WorldWideScience

Sample records for apical hypertrophic cardiomyopathy

  1. Apical Hypertrophic Cardiomyopathy Mimicking Acute Coronary Syndrome

    Directory of Open Access Journals (Sweden)

    Lütfü Bekar

    2013-03-01

    Full Text Available Apical hypertrophic cardiomyopathy is a rare form of hypertrophic cardiomyopathy and it can be mistaken for coronary artery disease due to the symptoms and electrocardiography findings. In this report, we aimed to present a patient referred to our clinic with complaints of chest pain and electrocardiography findings who had been misdiagnosed as non-ST elevation acute coronary syndrome.

  2. Multimodality imaging in apical hypertrophic cardiomyopathy

    Science.gov (United States)

    Parisi, Rosario; Mirabella, Francesca; Secco, Gioel Gabrio; Fattori, Rossella

    2014-01-01

    Apical hypertrophic cardiomyopathy (AHCM) is a relatively rare morphologic variant of HCM in which the hypertrophy of myocardium is localized to the left ventricular apex. Symptoms of AHCM might vary from none to others mimic coronary artery disease including acute coronary syndrome, thus resulting in inappropriate hospitalization. Transthoracic echocardiography is the first-line imaging technique for the diagnosis of hypertrophic cardiomyopathies. However, when the hypertrophy of the myocardium is localized in the ventricular apex might results in missed diagnosis. Aim of this paper is to review the different imaging techniques used for the diagnosis of AHCM and their role in the detection and comprehension of this uncommon disease. PMID:25276293

  3. Apical Hypertrophic Cardiomyopathy in Association with PulmonaryArtery Hypertension

    Directory of Open Access Journals (Sweden)

    Mehdi Peighambari

    2012-09-01

    Full Text Available Apical Hypertrophic Cardiomyopathy is an uncommon condition constituting 1% -2% of the cases with Hypertrophic Cardiomyopathy (HCM diagnosis. We interestingly report two patients with apical hypertrophic cardiomyopathy in association with significant pulmonary artery hypertension without any other underlying reason for pulmonary hypertension. The patients were assessed by echocardiography, cardiac catheterization and pulmonary function parameters study.

  4. Hypertrophic cardiomyopathy with mid-ventricular obstruction and apical aneurysm

    Directory of Open Access Journals (Sweden)

    N.D. Oryshchyn

    2016-11-01

    Full Text Available A case report of apical left ventricular aneurysm in patient with hypertrophic cardiomyopathy with mid-ventricular obstruction (diagnosis and surgical treatment is presented. We revealed apical aneurysm and mid-ventricular obstruction during echocardiography and specified anatomical characteristics of aneurysm during computer tomography. There was no evidence of obstructive coronary artery disease during coronary angiography. Taking into consideration multiple cerebral infarcts, aneurysm resection and left ventricular plastics was performed. Electronic microscopy of myocardium confirmed the diagnosis of hypertrophic cardiomyopathy.

  5. Spontaneous coronary artery dissection associated with apical hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Tuncer, M.; Gumrukcuoglu, H.A.; Ekim, H.; Gunes, Y.; Simsek, H.

    2010-01-01

    Apical hypertrophic cardiomyopathy (HCM) is a relatively uncommon inherited disease. Spontaneous coronary artery dissection (SCAD) is also uncommonly observed, which often occurs in pregnant or post partum women but is rare in men. This report describes a 38 years old man with apical hypertrophic cardiomyopathy who developed SCAD leading to acute inferior myocardial infarction. After emergent appendectomy operation at another hospital, he was immediately transferred to the Cardiology Department of our hospital due to acute myocardial infarction. He emergently underwent coronary angiography which showed a long dissection involving the right coronary. He underwent an emergent CABG with cardiopulmonary bypass. Postoperative recovery was uneventful and he was discharged. According to our knowledge, no case of spontaneous coronary artery dissection associated with apical hypertrophic cardiomyopathy unrelated to postpartum period or oral contraceptive use has been reported so far. (author)

  6. An unusual ST-segment elevation: apical hypertrophic cardiomyopathy shows the ace up its sleeve.

    Science.gov (United States)

    de Santis, Francesco; Pergolini, Amedeo; Zampi, Giordano; Pero, Gaetano; Pino, Paolo Giuseppe; Minardi, Giovanni

    2013-01-01

    Apical hypertrophic cardiomyopathy is part of the broad clinical and morphologic spectrum of hypertrophic cardiomyopathy. We report a patient with electrocardiographic abnormalities in whom acute coronary syndrome was excluded and apical hypertrophic cardiomyopathy was demonstrated by careful differential diagnosis. Copyright © 2012 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  7. Apical hypertrophic cardiomyopathy with hemodynamically unstable ventricular arrhythmia - Atypical presentation.

    Science.gov (United States)

    Chaturvedi, Hemant; Pandey, Rudra Dev; Sharma, Krishna Kumar; Makkar, Jitendra Singh; Sharma, Sanjeev K

    2016-09-01

    We present a patient with asymptomatic apical hypertrophic cardiomyopathy (AHCM) who recently developed cardiac arrhythmias, and shortly discuss the diagnostic modalities, differential diagnosis, and treatment strategy for this condition. AHCM is a rare form of hypertrophic cardiomyopathy, which usually involves the apex of the left ventricle. AHCM can occur with varied presentations such as chest pain, palpitations, dyspnea, syncope, atrial fibrillation, myocardial infarction, embolic events, ventricular fibrillation, and congestive heart failure. The most peculiar electrocardiogram findings are giant T-waves inversion in the precordial leads with left ventricular (LV) hypertrophy. A transthoracic echocardiogram is the initial diagnostic modality in the evaluation of AHCM and shows hypertrophy of the LV apex. Other diagnostic modalities, including left ventriculography, multislice spiral computed tomography, and cardiac magnetic resonance imagings, are also valuable tools. Medications used to manage include verapamil, beta-blockers, and antiarrhythmic agents. An implantable cardioverter defibrillator (ICD) is recommended for high-risk patients. Copyright © 2015 Cardiological Society of India. Published by Elsevier B.V. All rights reserved.

  8. Serious arrhythmias in patients with apical hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Okishige, Kaoru; Sasano, Tetsuo; Yano, Kei; Azegami, Kouji; Suzuki, Kou; Itoh, Kuniyasu [Yokohama Red Cross Hospital (Japan)

    2001-05-01

    We report cases of serious arrhythmias associated with apical hypertrophic cardiomyopathy (AHCM). Thirty-one patients were referred to our institute to undergo further assessment of their AHCM from 1988 to 1999. Three patients with nonsustained ventricular tachycardia demonstrated an {sup 123}I-MIBG regional reduction in the tracer uptake. In two patients with ventricular fibrillation (VF), the findings from {sup 123}I-MIBG imaging revealed regional sympathetic denervation in the inferior and lateral regions. Electrophysiologic study demonstrated reproducible induction of VF in aborted sudden death and presyncopal patients, resulting in the need for an implantable defibrillator device and amiodarone in each patient. Patients with refractory atrial fibrillation with a rapid ventricular response suffered from serious congestive heart failure. A prudent assessment and strategy in patients with this disease would be indispensable in avoiding a disastrous outcome. (author)

  9. An Atypical Case of Apical Hypertrophic Cardiomyopathy: Absence of Giant T Waves in spite of Extreme Apical Wall Hypertrophy

    Directory of Open Access Journals (Sweden)

    Elias Sanidas

    2015-01-01

    Full Text Available Apical hypertrophic cardiomyopathy is an uncommon variant of hypertrophic cardiomyopathy, with hypertrophy mainly affecting the apex of the left ventricle. We hereby describe a case of an octogenarian female patient who was randomly diagnosed with AHCM due to other comorbidities.

  10. Clinical sustained uniform ventricular tachycardia in hypertrophic cardiomyopathy: association with left ventricular apical aneurysm.

    OpenAIRE

    Alfonso, F; Frenneaux, M P; McKenna, W J

    1989-01-01

    Of 51 patients with hypertrophic cardiomyopathy who had episodes of ventricular tachycardia detected during ambulatory electrocardiographic monitoring only two had clinical sustained uniform ventricular tachycardia that required medical treatment because of worsening symptoms. In both patients the arrhythmia was associated with the uncommon finding of an apical aneurysm with angiographically normal coronary arteries.

  11. Scintigraphic evaluation of regional myocardial sympathetic activity in patients with hypertrophic cardiomyopathy. Comparison between asymmetrical hypertrophic cardiomyopathy and apical hypertrophy

    Energy Technology Data Exchange (ETDEWEB)

    Eno, Shin; Takeo, Eiichiro; Sasaki, Satoshi; Matsuda, Keiji; Fujii, Hideaki; Kanazawa, Ikuo [Chugoku Rosai General Hospital, Kure, Hiroshima (Japan)

    1998-02-01

    Using {sup 123}I-MIBG (metaiodobenzylguanidine) and {sup 201}Tl imagings, an examination concerning the relation between the hypertrophic region and its sympathetic nervous function was done. Subjects were 12 normal adults (4 males and 8 females, mean age 61.3 yr), 13 patients with asymmetrical hypertrophic cardiomyopathy (10 males and 3 females, 63.9 yr) and 13 patients with apical hypertrophy (9 males and 4 females, 67.2 yr). The SPECT apparatus was Toshiba two-gated gamma camera GCA 7200A. At 20 min and 3 hr after intravenous injection of 111 MBq of {sup 123}I-MIBG, myocardial SPECT and planar images were obtained with collimator LEHR under following conditions: photoelectric peak 159 KeV, window width 20%, matrix size 64 x 64 (256 x 256 for the planar image), step angle 6deg, 40 sec/step and 180deg for 1 camera. In another day, {sup 201}Tl SPECT and planar imagings were performed 10 min after intravenous injection of 111 MBq of {sup 201}Tl for the photoelectric peak 72 KeV under similar conditions to above. SPECT images were reconstructed using Butterworth filter and Shepp and Logan filter. Images were examined for the defect score, myocardium/mediastinum ratio, whole heart washout rate and regional washout rate. In the asymmetrical hypertrophic myopathy, abnormal sympathetic nerve function was recognized on the regions regardless of their disease severity while in the apical hypertrophy, abnormality was restricted on the apical region. Therefore, the two diseases were found different from each other from the aspect of sympathetic nerve functions. (K.H.)

  12. Phenotypic overlap in hypertrophic cardiomyopathy: apical hypertrophy, midventricular obstruction, and apical aneurysm.

    Science.gov (United States)

    Minami, Yuichiro; Haruki, Shintaro; Hagiwara, Nobuhisa

    2014-12-01

    Within the diverse phenotypic spectrum of hypertrophic cardiomyopathy (HCM), subgroups of patients with apical hypertrophy (APH), midventricular obstruction (MVO), and apical aneurysm (APA) have emerged. While previous studies have suggested the existence of considerable overlap between APH, MVO, and APA, there are still many unanswered questions. Therefore, we attempted to clarify the relationship of the above three phenotypes of HCM with respect to prevalence, overlap, and outcomes. Among the 544 study HCM patients (mean follow-up period: 11.6±7.4 years), 170 with APH (31.3%), 51 with MVO (9.4%), and 24 with APA (4.4%) were examined. There was phenotypic overlap between APH and MVO in 17 patients, APH and APA in 14 patients, and MVO and APA in 14 patients. Furthermore, a combination of APH, MVO, and APA was observed in eight patients. Detailed analysis of the relationship between overlapping phenotypes and the prognosis showed that APA patients without a history of APH had an extremely poor outcome (probability of the combined endpoint of sudden death and potentially lethal arrhythmic events ≥50%). Conversely, APH patients without MVO had a strikingly good outcome (probability of the combined endpoint <5%). Other patients had an intermediate outcome (probability of the combined endpoint 10-40%). Our results suggest that overlap between these three forms of HCM is substantial, and that detailed classification of the overlapping phenotypes is clinically meaningful. Copyright © 2014 Japanese College of Cardiology. Published by Elsevier Ltd. All rights reserved.

  13. Diagnosis of apical hypertrophic cardiomyopathy: T-wave inversion and relative but not absolute apical left ventricular hypertrophy.

    Science.gov (United States)

    Flett, Andrew S; Maestrini, Viviana; Milliken, Don; Fontana, Mariana; Treibel, Thomas A; Harb, Rami; Sado, Daniel M; Quarta, Giovanni; Herrey, Anna; Sneddon, James; Elliott, Perry; McKenna, William; Moon, James C

    2015-03-15

    Diagnosis of apical HCM utilizes conventional wall thickness criteria. The normal left ventricular wall thins towards the apex such that normal values are lower in the apical versus the basal segments. The impact of this on the diagnosis of apical hypertrophic cardiomyopathy has not been evaluated. We performed a retrospective review of 2662 consecutive CMR referrals, of which 75 patients were identified in whom there was abnormal T-wave inversion on ECG and a clinical suspicion of hypertrophic cardiomyopathy. These were retrospectively analyzed for imaging features consistent with cardiomyopathy, specifically: relative apical hypertrophy, left atrial dilatation, scar, apical cavity obliteration or apical aneurysm. For comparison, the same evaluation was performed in 60 healthy volunteers and 50 hypertensive patients. Of the 75 patients, 48 met conventional HCM diagnostic criteria and went on to act as another comparator group. Twenty-seven did not meet criteria for HCM and of these 5 had no relative apical hypertrophy and were not analyzed further. The remaining 22 patients had relative apical thickening with an apical:basal wall thickness ratio >1 and a higher prevalence of features consistent with a cardiomyopathy than in the control groups with 54% having 2 or more of the 4 features. No individual in the healthy volunteer group had more than one feature and no hypertension patient had more than 2. A cohort of individuals exist with T wave inversion, relative apical hypertrophy and additional imaging features of HCM suggesting an apical HCM phenotype not captured by existing diagnostic criteria. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  14. Association of ST elevation with apical aneurysm in hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Ozcan Ozeke

    2015-09-01

    Conclusions: Clinicians and specifically echocardiographers must pay special attention on the electrocardiography to correctly detect the frequently overlooked apical aneurysm in HCM patients, and should be careful for apical aneurysm particularly in the presence of STE in V4-6 derivations.

  15. Apical hypertrophic cardiomyopathy with hemodynamically unstable ventricular arrhythmia – Atypical presentation

    Directory of Open Access Journals (Sweden)

    Hemant Chaturvedi

    2016-09-01

    Full Text Available We present a patient with asymptomatic apical hypertrophic cardiomyopathy (AHCM who recently developed cardiac arrhythmias, and shortly discuss the diagnostic modalities, differential diagnosis, and treatment strategy for this condition. AHCM is a rare form of hypertrophic cardiomyopathy, which usually involves the apex of the left ventricle. AHCM can occur with varied presentations such as chest pain, palpitations, dyspnea, syncope, atrial fibrillation, myocardial infarction, embolic events, ventricular fibrillation, and congestive heart failure. The most peculiar electrocardiogram findings are giant T-waves inversion in the precordial leads with left ventricular (LV hypertrophy. A transthoracic echocardiogram is the initial diagnostic modality in the evaluation of AHCM and shows hypertrophy of the LV apex. Other diagnostic modalities, including left ventriculography, multislice spiral computed tomography, and cardiac magnetic resonance imagings, are also valuable tools. Medications used to manage include verapamil, beta-blockers, and antiarrhythmic agents. An implantable cardioverter defibrillator (ICD is recommended for high-risk patients.

  16. Relationship between giant negative T wave-apical hypertrophy and hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Sakuma, Ichiro; Anzai, Teisuke; Kakinoki, Shigeo; Mikami, Taisei; Kanamori, Katsushi; Kudo, Toshihiko; Sakamoto, Sanya; Yasuda, Hisakazu

    1986-01-01

    To assess a relationship between giant negative T wave (GNT) and left ventricular (LV) hypertrophic patterns, and to clarify the pathogenesis of apical hypertrophic cardiomyopathy (AHC), 12 patients (pts) with AHC (group A : GNT (+), mid-ventricular hypertrophy at chorda level in echocardiography (mVH) (-)) and 24 pts with non-obstructive hypertrophic cardiomyopathy (group B : GNT (+), mVH (+), n = 12, and group C : GNT (-), mVH (+), n = 12 were studied with multi-slice ECG gated X-ray computed tomography (MSECT) and left ventriculography (LVG). In MSECT images pts in group A showed LV hypertrophy (LVH) localized at the apex and pts in group B showed LVH relatively thicker at the apex ; however pts in group C had more severe LVH spreading towards the base. End-diastolic LVG patterns were spade or spade-like pattern in group A, although non-spade pattern in group C. Left ventricular mass (LVM) calculated from MSECT was significantly heavier in group C than in groups A and B. In groups A and B there was a wide variation in LVM from as light as that in normal controls to as heavy as that in group C. In conclusion, LVH relatively localized at the apex was assumed to generate GNT. AHC pts showed a wide variation in the severity of LVH and their pathogeneses might be different. (author)

  17. Midventricular Hypertrophic Cardiomyopathy with Apical Aneurysm: Potential for Underdiagnosis and Value of Multimodality Imaging

    Directory of Open Access Journals (Sweden)

    Archana Sivanandam

    2016-01-01

    Full Text Available We illustrate a case of midventricle obstructive HCM and apical aneurysm diagnosed with appropriate use of multimodality imaging. A 75-year-old African American woman presented with a 3-day history of chest pain and dyspnea with elevated troponins. Her electrocardiogram showed sinus rhythm, left atrial enlargement, left ventricular hypertrophy, prolonged QT, and occasional ectopy. After medical therapy optimization, she underwent coronary angiography for an initial diagnosis of non-ST segment elevation myocardial infarction. Her coronaries were unremarkable for significant disease but her left ventriculogram showed hyperdynamic contractility of the midportion of the ventricle along with a large dyskinetic aneurysmal apical sac. A subsequent transthoracic echocardiogram provided poor visualization of the apical region of the ventricle but contrast enhancement identified an aneurysmal pouch distal to the midventricular obstruction. To further clarify the diagnosis, cardiac magnetic resonance imaging with contrast was performed confirming the diagnosis of midventricular hypertrophic cardiomyopathy with apical aneurysm and fibrosis consistent with apical scar on delayed enhancement. The patient was medically treated and subsequently underwent elective implantable defibrillator placement in the ensuing months for recurrent nonsustained ventricular tachycardia and was initiated on prophylactic oral anticoagulation with warfarin for thromboembolic risk reduction.

  18. A case of mid-apical obstructive hypertrophic cardiomyopathy treated with a transapical myectomy approach: a case report.

    Science.gov (United States)

    Scudeler, Thiago Luis; Rezende, Paulo Cury; Oikawa, Fernando Teiichi Costa; da Costa, Leandro Menezes Alves; Hueb, Alexandre Ciappina; Hueb, Whady

    2014-11-11

    Hypertrophic cardiomyopathy is a genetic cardiac disease characterized by marked variability in morphological expression and natural history. The hypertrophic myocardium is often confined to the septum or lateral wall of the left ventricle, but it can also be encountered in the middle or apical segments of the myocardium. Treatment is based on medical therapy. Others therapies, such as embolization of the septal artery or ventriculomyectomy, are indicated in special situations. Surgery is the standard treatment, and it is classically done via a transaortic approach; however, in cases in which the hypertrophic myocardium is confined to mid-apical segments, a transapical approach is an option. Only a few cases of mid-apical obstructive hypertrophic cardiomyopathy treated with a myectomy using a transapical approach have been reported in the English-language literature. In this report, we present a case of a patient with mid-apical obstructive hypertrophic cardiomyopathy treated using this new approach. A 63-year-old Caucasian woman presented with a history of chest pain and shortness of breath causing significant limitations on her daily life activities. She had a history of coronary artery disease. Her physical examination was unremarkable. Transthoracic echocardiography revealed normal systolic function and significant concentric left ventricular hypertrophy that was greater in the mid-apical region. Nuclear magnetic resonance imaging confirmed significant hypertrophy of the median segments of the left ventricle. The patient had persistent symptoms despite receiving optimized medical treatment, and a surgical approach was indicated. As a myectomy using transaortic technique was thought to be difficult to perform in her case, a transapical approach was used. No complications occurred, and her symptoms resolved. A transapical myectomy should be taken into consideration for patients with mid-apical obstructive hypertrophic cardiomyopathy that is refractory to medical

  19. Clinical significance of left ventricular apical aneurysms in hypertrophic cardiomyopathy patients: the role of diagnostic electrocardiography.

    Science.gov (United States)

    Ichida, Masaru; Nishimura, Yoshioki; Kario, Kazuomi

    2014-10-01

    Some patients with hypertrophic cardiomyopathy (HCM) develop left ventricular apical aneurysm, leading to serious cardiovascular complications. The aims of this study were to identify the incidence and clinical course of HCM patients with apical aneurysms in Japan, and to evaluate the role of electrocardiography (ECG) as a screening test to detect apical aneurysms in HCM patients. In a retrospective, single center analysis of a population of 247 HCM patients, 21 patients (8.5%) had left ventricular apical aneurysms. Their mean age was 60 ± 14 years (range: 23-77 years) at study entry. Over 4.7 ± 3.3 years of follow-up, 10 patients (47.6%) experienced an adverse clinical event (annual event rate: 10.1%/y), including five implantable cardioverter-defibrillator (ICD) implantations for ventricular tachycardia/ventricular fibrillation (VT/VF), an appropriate discharge of ICD for VT/VF, and four nonfatal thromboembolic strokes. Two patients developed systolic dysfunction (ejection fraction <50%). No sudden cardiac death or progressive heart failure was detected. Fourteen patients showed ST-segment elevation (≥ 1 mm) in V3 through V5 of ECG. In four patients, progression of the ST-segment elevation was recognized. When the ST-segment elevation was used to identify apical aneurysms in HCM patients, the sensitivity was 66.7%, and the specificity was 98.7%. Apical aneurysms in HCM patients in Japan are not rare, and are associated with serious cardiovascular complications. The early diagnosis of apical aneurysms can be achieved by serial ECG. Copyright © 2014 Japanese College of Cardiology. Published by Elsevier Ltd. All rights reserved.

  20. Hypertrophic cardiomyopathy with midventricular obstruction and apical aneurysm formation in a single family: case report

    Directory of Open Access Journals (Sweden)

    Paraskevaidis Stylianos

    2009-06-01

    Full Text Available Abstract Background Hypertrophic cardiomyopathy (HCM is an extremely heterogeneous disease. An under recognized and very often missed subgroup within this broad spectrum concerns patients with left ventricular (LV apical aneurysms in the absence of coronary artery disease. Case presentation We describe a case of HCM with midventricular obstruction and apical aneurysm formation in 3 patients coming from a single family. This HCM pattern was detected by 2D-echocardiography and confirmed by cardiac magnetic resonance imaging. A cardioverter defibrillator was implanted in one of the patients because of non-sustained ventricular tachycardia detected in 24-h Holter monitoring and an abrupt drop in systolic blood pressure during maximal exercise test. The defibrillator activated 8 months after implantation by suppression of a ventricular tachycardia providing anti-tachycardia pacing. The patient died due to refractory heart failure 2 years after initial evaluation. The rest of the patients are stable after a 2.5-y follow-up period. Conclusion The detection of apical aneurysm by echocardiography in HCM patients may be complicated. Ventricular tachycardia arising from the scarred aneurysm wall may often occur predisposing to sudden death.

  1. CASE OF DIAGNOSIS OF APICAL FORM OF HYPERTROPHIC CARDIOMYOPATHY WITH A PATIENT WITH PROGRESSIVE ANGINA CLINIC

    Directory of Open Access Journals (Sweden)

    N. S. Krylova

    2015-01-01

    Full Text Available Objective of work: to describe the apical form of hypertrophic cardiomyopathy (AFHC developing under the "mask" of the ischemic heart disease not diagnosed for a long period.Materials and methods. Patient B., 73 y.o., female, was brought to the cardiology department with complains of severe pressing pain behind the breastbone caused with no apparent reason and lasting for over 4 hours. The following examination of the patient was performed: electrocardiography (ECG, echocardiography (EchoCG, Holter ECG monitoring, coronary angiography (CAG, ventriculography.Results. The final diagnosis for the patient was set on the basis of the following readings: ECG data (basic rhythm – atrial fibrillation, left ventricle (LV hypertrophy, negative T-waves in leads V1–6, ST segment depression up to 1–2 mm in leads V4–6, EchoCG (hypertrophy of apical segments of the LV with decreasing of its cavity, moderate dilatation of the left atrium, intraventricular obstruction in the apical third of the LV with the maximum pressure gradient of up to 48 mm Hg., CAG (stenotic lesions of coronary arteries were found, ventriculography (LV volume is not increased, no violations of local contractility, narrowing of the LV cavity in the lower third is observed with thinning in the apex, which indicatesexpressed apical hypertrophy of the LV myocard. AFHC, apical form with moderate obstruction in the lower third of the left ventricle. Stress angina syndrome. CAG and ventriculography were main diagnostic methods that allowed setting the final diagnosis.Conclusion. The clinical case sets forth the peculiarities of diagnostics, therapy, and post-therapy management of patients with this form of AFHC.

  2. Multiple Coronary Artery Microfistulas Associated with Apical Hypertrophic Cardiomyopathy: Left and Right Coronary Artery to the Left Ventricle

    Directory of Open Access Journals (Sweden)

    Jeong-Woo Choi

    2015-01-01

    Full Text Available A 76-year-old woman underwent coronary angiography for chest pain. On the coronary angiogram, no significant coronary artery atherosclerotic stenosis was observed. Multiple coronary artery microfistulas, draining from the left anterior descending artery to the left ventricle and from the posterior descending artery of the right coronary artery to the left ventricle, were observed. Apical wall thickening and fistula flow from the left anterior descending artery were demonstrated by using transthoracic echocardiography. We describe a rare case of multiple coronary artery microfistulas from the left and right coronary artery to the left ventricle combined with apical hypertrophic cardiomyopathy.

  3. Apical Hypertrophic Cardiomyopathy in a Case with Chest Pain and Family History of Sudden Cardiac Death: A Case Report

    Directory of Open Access Journals (Sweden)

    Mostafa Ahmadi

    2017-09-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is the most common genetic cardiovascular disease, which is caused by a multitude of mutations in genes encoding proteins of the cardiac sarcomere (1. Apical hypertrophic cardiomyopathy (AHCM is an uncommon type of HCM. The sudden cardiac death is less likely to occur in the patients inflicted with AHCM (2. Herein, we presented the case of a 29-year-old man with AHCM, who had typical exertional chest pain without any cardiovascular risk factors, except for a sudden cardiac death in his older brother at the age of 28 years. After performing complete clinical and paraclinical evaluations, the patient underwent optimal medical treatment with beta-blocker agents without any symptoms.

  4. A Rare Case of Hypertrophic Cardiomyopathy with Subendocardial Late Gadolinium Enhancement in an Apical Aneurysm with Thrombus

    Directory of Open Access Journals (Sweden)

    Yusuke Morita

    2014-01-01

    Full Text Available The mechanisms responsible for the development of apical aneurysms in cases of hypertrophic cardiomyopathy (HCM are currently unclear but likely involve multiple factors. Here, we present a case of HCM with marked subendocardial fibrosis involving the apical and proximal portions of the left ventricle. A 71-year-old man with left ventricular hypertrophy presented with signs and symptoms of heart failure. The presence of asymmetrical left ventricular hypertrophy and bilateral, thickened ventricular walls with an apical aneurysm on transthoracic echocardiography suggested a diagnosis of HCM with ventricular dysfunction. No intraventricular pressure gradients with obstruction were identified. Late gadolinium enhancement (LGE with cardiac magnetic resonance imaging and endomyocardial biopsies showed subendocardial fibrosis involving the apical aneurysm and proximal portion. Whereas LGE in a transmural pattern is commonly observed in HCM apical aneurysms, subendocardial LGE, as noted in the present case, is a relatively rare occurrence. Thus, the present case may provide unique insights into the adverse remodeling process and formation of apical aneurysms in cases of HCM.

  5. Assessment of myocardial perfusion abnormalities in patients with apical hypertrophic cardiomyopathy using exercise [sup 201]Tl scintigraphy

    Energy Technology Data Exchange (ETDEWEB)

    Sugihara, Hiroki; Taniguchi, Yoko; Ohtsuki, Katsuichi (Kyoto Prefectural Univ. of Medicine (Japan)) (and others)

    1993-11-01

    Regional myocardial perfusion abnormalities commonly occur during exercise in patients with hypertrophic cardiomyopathy (HCM). Exercise [sup 201]Tl myocardial scintigraphy has provided a noninvasive means of identifying myocardial perfusion abnormalities in patients with HCM. On the other hand, apical hypertrophic cardiomyopathy (APH) is reported as a subtype of HCM. Whether APH is essentially equal to HCM or not is controversial. To assess myocardial ischemia in patients with APH, we studied 28 patients with APH, with exercise [sup 201]Tl SPECT. Myocardial perfusion images were obtained immediately after submaximal exercise and again after a 3-hour delay. Regional perfusion defects during exercise were identified in 19 of the 28 patients (68%) with APH. Complete reversible defects were observed in 15 (79%) patients with APH. Although perfusion defects were present in all regions of the left ventricle in patients with HCM, they were present only in the apical region in patients with APH. Thus, reversible [sup 201]Tl perfusion abnormalities commonly occur during exercise in patients with APH as well as in patients with HCM. (author).

  6. Cardiomiopatia hipertrófica apical associada a doença arterial coronária Apical hypertrophic cardiomyopathy associated with coronary artery disease

    Directory of Open Access Journals (Sweden)

    Francisco Manes Albanesi Fº

    1998-08-01

    Full Text Available Homem de 59 anos, portador de cardiomiopatia hipertrófica apical há 12 anos, apresentou agudização de quadro anginoso. Foi detectada doença arterial coronária com lesão trivascular, e indicada cirurgia de revascularização, com anastomose de artéria mamária e a colocação de duas pontes de veia safena, tendo evoluído com melhora do quadro anginoso e redução da dimensão do átrio esquerdo.A fifty-nine year old man, known to have hypertrophic cardiomyopathy, presented worsening of angina. Multivessel coronary artery disease was diagnosed, and he underwent myocardial revascularization (mammary and two safenous grafts were implanted with good evolution and reduction of left atrium dimension.

  7. New perspectives in Hypertrophic Cardiomyopathy

    NARCIS (Netherlands)

    M.J.M. Kofflard (Marcel)

    1998-01-01

    textabstractHypertrophic cardiomyopathy is a primary cardiac disorder with a heterogeneous expression. Although relatively uncommon, the disease has been studied extensively as appears from the numerous studies that have explored specific facets of hypertrophic cardiomyopathy. This review will focus

  8. HYPERTROPHIC CARDIOMYOPATHY IN MULTIMORBIDITY

    Directory of Open Access Journals (Sweden)

    A. I. Lakhonina

    2016-06-01

    Full Text Available Aspects of diagnosis, difficulties in the diagnosis and optimal therapeutic strategies in patient with hypertrophic cardiomyopathy and comorbid conditions such as arterial hypertension, ischemic heart disease, dyslipidemia, diabetes mellitus type 2, stenosis of the left renal artery, obesity are reviewed on the example of clinical case. Hypertrophic cardiomyopathy combined with multimorbidity conditions requires a high-quality medical management, where the main goal is to improve the quality and duration of patient's life. This goal is being achieved by optimizing patient's lifestyle and assigning only the minimum amount of medications. Necessity of careful diagnosis of hypertrophic cardiomyopathy, evaluation of the risk of sudden death and search of optimal treatment in patients with multimorbidity pathology are demonstrated in clinical case.

  9. Myocardial scarring on cardiovascular magnetic resonance in asymptomatic or minimally symptomatic patients with “pure” apical hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Kim Kyung-Hee

    2012-07-01

    Full Text Available Abstract Background Late gadolinium enhancement (LGE cardiovascular magnetic resonance (CMR enables state-of-the-art in vivo evaluations of myocardial fibrosis. Although LGE patterns have been well described in asymmetrical septal hypertrophy, conflicting results have been reported regarding the characteristics of LGE in apical hypertrophic cardiomyopathy (ApHCM. This study was undertaken to determine 1 the frequency and distribution of LGE and 2 its prognostic implication in ApHCM. Methods Forty patients with asymptomatic or minimally symptomatic pure ApHCM (age, 60.2 ± 10.4 years, 31 men were prospectively enrolled. LGE images were acquired using the inversion recovery segmented spoiled-gradient echo and phase-sensitive inversion recovery sequence, and analyzed using a 17-segment model. Summing the planimetered LGE areas in all short axis slices yielded the total volume of late enhancement, which was subsequently presented as a proportion of total LV myocardium (% LGE. Results Mean maximal apical wall thickness was 17.9±2.3mm, and mean left ventricular (LV ejection fraction was 67.7 ± 8.0%. All but one patient presented with electrocardiographic negative T wave inversion in anterolateral leads, with a mean maximum negative T wave of 7.2 ± 4.7mm. Nine patients (22.5% had giant negative T waves, defined as the amplitude of ≥10mm, in electrocardiogram. LGE was detected in 130 segments of 30 patients (75.0%, occupying 4.9 ± 5.5% of LV myocardium. LGE was mainly detected at the junction between left and right ventricles in 12 (30% and at the apex in 28 (70%, although LGE-positive areas were widely distributed, and not limited to the apex. Focal LGE at the non-hypertrophic LV segments was found in some ApHCM patients, even without LGE of hypertrophied apical segments. Over the 2-year follow-up, there was no one achieving the study end-point, defined as all-cause death, sudden cardiac death and hospitalization for heart failure

  10. Hypertrophic Cardiomyopathy Association

    Science.gov (United States)

    ... be donated to Hypertrophic Cardiomyopathy Association. iGive.com - Online Shopping Joing iGive.com to earn money for the ... it works, check out the iGive website . AmazonSmile - Online Shopping Amazon donates 0.5% of the purchase price ...

  11. Delayed-enhancement MRI of apical hypertrophic cardiomyopathy: assessment of the intramural distribution and comparison with clinical symptoms, ventricular arrhythmias, and cine MRI

    International Nuclear Information System (INIS)

    Amano, Yasuo; Fukushima, Yoshimitsu; Kumita, Shinichiro; Takayama, Morimasa; Kitamura, Mitsunobu

    2011-01-01

    Background: Hypertrophic cardiomyopathy (HCM) is reported to show patchy midwall myocardial hyper enhancement on delayed-enhancement magnetic resonance imaging (DE-MRI). The intramural distribution of myocardial hyper enhancement and its correlation with clinical symptoms, ventricular arrhythmias, and cardiac function have not been described for symptomatic apical HCM. Purpose: To evaluate the features and significance of myocardial hyper enhancement on DE-MRI in symptomatic apical HCM. Material and Methods: Thirteen patients with symptomatic apical HCM and their 65 apical segments were investigated. Myocardial hyper enhancement and regional and global functional parameters were determined with MRI. We investigated the intramural distribution and frequencies of this myocardial hyper enhancement and compared them with the patients' clinical symptoms, the presence of ventricular arrhythmias, and cine MRI. Results: Eight (61.5%) patients with symptomatic apical HCM displayed apical myocardial hyper enhancement, and 22 (33.8%) of the 65 apical segments examined showed myocardial hyper enhancement. Of the myocardial hyper enhancement observed, 81.8% showed a subendocardial pattern.The Hyperenhanced apical myocardium had a lower percentage of systolic myocardial thickening, and was associated with serious symptoms (e.g. syncope) and ventricular arrhythmias. Conclusion: Patients with symptomatic apical HCM showed myocardial hyper enhancement involving the subendocardial layer, which might be related to regional systolic dysfunction, serious clinical symptoms, and ventricular arrhythmias

  12. Delayed-enhancement MRI of apical hypertrophic cardiomyopathy: assessment of the intramural distribution and comparison with clinical symptoms, ventricular arrhythmias, and cine MRI

    Energy Technology Data Exchange (ETDEWEB)

    Amano, Yasuo; Fukushima, Yoshimitsu; Kumita, Shinichiro (Dept. of Radiology, Nippon Medical School, Tokyo (Japan)), email: yas-amano@nifty.com; Takayama, Morimasa (Dept. of Cardiology, Sakakibara Heart Inst., Tokyo (Japan)); Kitamura, Mitsunobu (Coronary Care Unit, Chiba-Hokuso Hospital of Nippon Medical School, Chiba (Japan))

    2011-07-15

    Background: Hypertrophic cardiomyopathy (HCM) is reported to show patchy midwall myocardial hyper enhancement on delayed-enhancement magnetic resonance imaging (DE-MRI). The intramural distribution of myocardial hyper enhancement and its correlation with clinical symptoms, ventricular arrhythmias, and cardiac function have not been described for symptomatic apical HCM. Purpose: To evaluate the features and significance of myocardial hyper enhancement on DE-MRI in symptomatic apical HCM. Material and Methods: Thirteen patients with symptomatic apical HCM and their 65 apical segments were investigated. Myocardial hyper enhancement and regional and global functional parameters were determined with MRI. We investigated the intramural distribution and frequencies of this myocardial hyper enhancement and compared them with the patients' clinical symptoms, the presence of ventricular arrhythmias, and cine MRI. Results: Eight (61.5%) patients with symptomatic apical HCM displayed apical myocardial hyper enhancement, and 22 (33.8%) of the 65 apical segments examined showed myocardial hyper enhancement. Of the myocardial hyper enhancement observed, 81.8% showed a subendocardial pattern.The Hyperenhanced apical myocardium had a lower percentage of systolic myocardial thickening, and was associated with serious symptoms (e.g. syncope) and ventricular arrhythmias. Conclusion: Patients with symptomatic apical HCM showed myocardial hyper enhancement involving the subendocardial layer, which might be related to regional systolic dysfunction, serious clinical symptoms, and ventricular arrhythmias

  13. Reversible ischaemia in hypertrophic cardiomyopathy.

    OpenAIRE

    Thomson, H.; Fong, W.; Stafford, W.; Frenneaux, M.

    1995-01-01

    Atypical and typical chest pains are common symptoms in patients with hypertrophic cardiomyopathy. Some of these chest pains seem to be caused by ischaemia. It is difficult to objectively demonstrate ischaemia in hypertrophic cardiomyopathy. The first line treatment for chest pain considered to be ischaemic in patients with hypertrophic cardiomyopathy is the use of either a beta blocker or calcium blocker. Septal myectomy can be effective in patients with symptoms refractory to conventional t...

  14. Hypertrophic Cardiomyopathy: A Review

    OpenAIRE

    Houston, Brian A; Stevens, Gerin R

    2015-01-01

    Hypertrophic cardiomyopathy (HCM) is a global disease with cases reported in all continents, affecting people of both genders and of various racial and ethnic origins. Widely accepted as a monogenic disease caused by a mutation in 1 of 13 or more sarcomeric genes, HCM can present catastrophically with sudden cardiac death (SCD) or ventricular arrhythmias or insidiously with symptoms of heart failure. Given the velocity of progress in both the fields of heart failure and HCM, we present a revi...

  15. New perspectives in Hypertrophic Cardiomyopathy

    OpenAIRE

    Kofflard, Marcel

    1998-01-01

    textabstractHypertrophic cardiomyopathy is a primary cardiac disorder with a heterogeneous expression. Although relatively uncommon, the disease has been studied extensively as appears from the numerous studies that have explored specific facets of hypertrophic cardiomyopathy. This review will focus on the anatomic abnormalities, the prevalence, symptoms and clinical outcome, therapeutic interventions and genetic mutations responsible for the disease.

  16. Hypertrophic cardiomyopathy: a review.

    Science.gov (United States)

    Hensley, Nadia; Dietrich, Jennifer; Nyhan, Daniel; Mitter, Nanhi; Yee, May-Sann; Brady, MaryBeth

    2015-03-01

    Hypertrophic cardiomyopathy (HCM) is a relatively common disorder that anesthesiologists encounter among patients in the perioperative period. Fifty years ago, HCM was thought to be an obscure disease. Today, however, our understanding and ability to diagnose patients with HCM have improved dramatically. Patients with HCM have genotypic and phenotypic variability. Indeed, a subgroup of these patients exhibits the HCM genotype but not the phenotype (left ventricular hypertrophy). There are a number of treatment modalities for these patients, including pharmacotherapy to control symptoms, implantable cardiac defibrillators to manage malignant arrhythmias, and surgical myectomy and septal ablation to decrease the left ventricular outflow obstruction. Accurate diagnosis is vital for the perioperative management of these patients. Diagnosis is most often made using echocardiographic assessment of left ventricular hypertrophy, left ventricular outflow tract gradients, systolic and diastolic function, and mitral valve anatomy and function. Cardiac magnetic resonance imaging also has a diagnostic role by determining the extent and location of left ventricular hypertrophy and the anatomic abnormalities of the mitral valve and papillary muscles. In this review on hypertrophic cardiomyopathy for the noncardiac anesthesiologist, we discuss the clinical presentation and genetic mutations associated with HCM, the critical role of echocardiography in the diagnosis and the assessment of surgical interventions, and the perioperative management of patients with HCM undergoing noncardiac surgery and management of the parturient with HCM.

  17. Comparison of the prevalence, clinical features, and long-term outcomes of midventricular hypertrophy vs apical phenotype in patients with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Cai, Chi; Duan, Fu-jian; Yang, Yin-jian; Guo, Xi-ying; Liu, Yan-ling; Liu, Yu-qing; Yan, Li-rong; Xu, Zhi-min; Zhao, Shi-hua; Hua, Wei; Li, Yi-shi; Fan, Chao-mei

    2014-04-01

    Previous studies on the association between the distribution of left ventricle hypertrophy and the clinical features of hypertrophic cardiomyopathy (HCM) have yielded unclear results. The aim of this study was to investigate the differences in the prevalence, clinical features, management strategies, and long-term outcomes between patients with midventricular hypertrophic obstructive cardiomyopathy (MVHOCM) and patients with apical HCM (ApHCM). A retrospective study of 60 patients with MVHOCM and 263 patients with ApHCM identified in a consecutive single-centre cohort consisting of 2068 patients with HCM was performed. The prevalence, clinical features, and natural history of the patients in these 2 groups were compared. Compared with ApHCM patients, patients with MVHOCM tended to be much younger and more symptomatic during their initial evaluation. Over a mean follow-up of 7 years, the probability of cardiovascular mortality and that of morbidity was significantly greater in MVHOCM patients compared with ApHCM patients (log-rank, P < 0.001). Our results suggest that, compared with ApHCM, MVHOCM represents an uncommon presentation of the clinical spectrum of HCM that is characterized by progressive clinical deterioration leading to increased cardiovascular mortality and morbidity. Our results also underscore the importance of the timely recognition of MVHOCM for the prediction of prognosis and the early consideration of appropriate management strategies. Copyright © 2014 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  18. Contractile Dysfunction in Sarcomeric Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    MacIver, David H; Clark, Andrew L

    2016-09-01

    The pathophysiological mechanisms underlying the clinical phenotype of sarcomeric hypertrophic cardiomyopathy are controversial. The development of cardiac hypertrophy in hypertension and aortic stenosis is usually described as a compensatory mechanism that normalizes wall stress. We suggest that an important abnormality in hypertrophic cardiomyopathy is reduced contractile stress (the force per unit area) generated by myocardial tissue secondary to abnormalities such as cardiomyocyte disarray. In turn, a progressive deterioration in contractile stress provokes worsening hypertrophy and disarray. A maintained or even exaggerated ejection fraction is explained by the increased end-diastolic wall thickness producing augmented thickening. We propose that the nature of the hemodynamic load in an individual with hypertrophic cardiomyopathy could determine its phenotype. Hypertensive patients with hypertrophic cardiomyopathy are more likely to develop exaggerated concentric hypertrophy; athletic individuals an asymmetric pattern; and inactive individuals a more apical hypertrophy. The development of a left ventricular outflow tract gradient and mitral regurgitation may be explained by differential regional strain resulting in mitral annular rotation. Copyright © 2016. Published by Elsevier Inc.

  19. DIFFERENTIAL DIAGNOSIS OF HYPERTROPHIC CARDIOMYOPATHY

    Directory of Open Access Journals (Sweden)

    I. V. Leontyeva

    2017-01-01

    Full Text Available Hypertrophic cardiomyopathy is the most common form of cardiomyopathy, occurring in childhood, occurring when a gene is mutated that encodes proteins of sarcomeric and non-sarcomeric complexes. The diagnosis of the disease is based on the data of echocardiography, revealing structural changes in the heart muscle according to the type of hypertrophy, while the genesis of these changes remains unclear. The causes of hypertrophic cardiomyopathy in childhood are diverse. Of great importance is the early diagnosis of metabolic forms of hypertrophic cardiomyopathy, so in some cases regress of hypertrophy is possible against the background of enzyme-substitution or other drug therapy. The article presents a clinical (cardiac and extracardiac symptoms and laboratory markers of hypertrophic cardiomyopathy with mutations of genes of proteins of the sarcomeric complex, congenital metabolic disorders (glycogenoses, lysosomal pathology, fatty acid metabolism disorders, and mitochondrial diseases, genetic syndromes (Noonan, LEOPARD, Costello, cardio-fascial-cutaneous, neuromuscular diseases. The criteria for differential diagnosis of genetic forms of hypertrophic cardiomyopathy and myocardial hypertrophy in athletes are presented. 

  20. HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY

    Directory of Open Access Journals (Sweden)

    A. G. Osiev

    2015-01-01

    Full Text Available Hypertrophic cardiomyopathy (HCMP is a relatively common disease with genetic predisposition, that is widely spread irrespective of gender, race or ethnicity. The cause of this pathology are mutations of genes encoding synthesis of contracting proteins. Degree and type of mutations define clinical manifestation of the disease and its prognosis. HCMP is classified according to four main criteria: depending on morphology, presence of left ventricular outlet obstruction, pressure gradient and hemodynamic parameters. Its prevalence amounts to 1:500, and in the recent years mortality has decreased significantly to 1%. Main symptoms of HCMP include dyspnoea, dizziness, syncope, angina, and heart arrhythmias. HCMP does not manifest obligatorily with all above mentioned signs and symptoms. Presence and severity of any symptoms depend on morphological particulars of the disease. Particular attention should be paid to arrhythmias, with atrial fibrillation among them, that may cause hazardous and occasionally lethal complications. Electrocardiography and echocardiography are recognized as the “golden standard” of HCMP diagnostics, while in the recent years, magnetic resonance imaging has become a highly informative diagnostic tool. Radionuclide diagnostics is used less frequently, while physical examination and assessments have been moving backwards. At present, main strategies in HCMP include medical treatment with β-blockers, calcium antagonists, angiotensin-converting enzyme inhibitors and anti-arrhythmics. There are two techniques for surgical treatment, i.e. myectomy by Morrow and alcohol septal ablation that is becoming increasingly popular. The article reviews literature on state-of-the-art diagnostics and treatment of HCMP patients.

  1. Magnetic resonance imaging in hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Ichida, Fukiko; Hamamichi, Yuuji; Hashimoto, Ikuo; Tsubata, Shinichi; Miyazaki, Ayumi; Okada, Toshio; Futatsuya, Ryuusuke; Okada, Eikichi (Toyama Medical and Pharmaceutical Univ. (Japan))

    1994-02-01

    To evaluate the capability of magnetic resonance imaging (MRI) in the anatomical diagnosis and tissue characterization, 8 children with hypertrophic cardiomyopathy were studied comparing with echocardiography and [sup 201]Tl myocardial imaging. The severity and distribution of hypertrophy were comparable on echocardiography and MRI. MRI was superior to echocardiography to demonstrate the apical hypertrophy. In 4 patients with severe hypertrophy, heterogenous high signal intensity was demonstrated in the site of hypertrophy, which was enhanced by T[sub 2] weighted imaging. In the patient with decreased cardiac performance and progressed cardiac failure, the heterogeneity and high signal intensity progressed in one year interval. Simultaneously performed [sup 201]Tl myocardial imaging showed patchy perfusion defect. Histological findings of the left ventricle demonstrated hypertrophy, degeneration and marked dysarray of the myocytes and fibrosis. MRI has the potential ability for the evaluation and sequential monitoring of myocardial tissue characterization as well as cardiac anatomy in childhood hypertrophic cardiomyopathy. (author).

  2. Magnetic resonance imaging in familial hypertrophic cardiomyopathy associated with abnormal thallium perfusion and cardiac enzymes

    International Nuclear Information System (INIS)

    Nishimura, Tsunehiko; Nagata, Seiki; Sakakibara, Hiroshi

    1988-01-01

    Gated magnetic resonance imaging (MRI) was performed in 6 patients with familial hypertrophic cardiomyopathy associated with abnormal thallium perfusion, and 12 patients with ordinary hypertrophic cardiomyopathy. The patients with ordinary hypertrophic cardiomyopathy and abnormal thickening of the septal wall and normal left ventricular dimensions, while the patients with familial hypertrophic cardiomyopathy had focal wall thinning (usually involving the apical-septal wall) and dilated left ventricle in addition to hypertrophied heart. The quantitative measurement for cardiac dimensions using MRI was similar to that found on echocardiography in all cases. In addition, inhomogeneous signal intensities at left ventricular wall were observed in 3 cases of familial hypertrophic cardiomyopathy, which may suggest the existence of myocardial fibrosis. Gated MRI should be performed for early detection and follow-up of hypertrophic cardiomyopathy, since some patients will progress from hypertrophic cardiomyopathy to dilated cardiomyopathy. (author)

  3. Animal models of hypertrophic cardiomyopathy

    NARCIS (Netherlands)

    Maass, Alexander; Leinwand, Leslie A.

    Familial hypertrophic cardiomyopathy (FHC) is an autosomal-dominant disease that is both clinically and genetically heterogeneous. Disease-causing mutations have been found in eight genes encoding structural components of the thick and thin filament systems of the cardiac myocyte; it has therefore

  4. Improving Outcomes in Hypertrophic Cardiomyopathy

    NARCIS (Netherlands)

    P.A. Vriesendorp (Pieter)

    2016-01-01

    markdownabstractImproving outcomes in hypertrophic cardiomyopathy (HCM) is focused on the improvement of the therapeutic strategies for patients with HCM. First it demonstrates that individual patient selection in patients with obstructive and symptomatic HCM can lead to near normal life-expectancy;

  5. Cor triatriatum and hypertrophic cardiomyopathy.

    Science.gov (United States)

    Pellaton, Cyril; O'Mahony, Costas; Ludman, Andrew J; Sekhri, Neha; Mohiddin, Saidi

    2016-12-01

    : Cor triatriatum is a rare congenital anomaly known to be associated with other inherited heart diseases. We present a nonrestrictive cor triatriatum sinistrum associated with hypertrophic cardiomyopathy to illustrate how different multimodality noninvasive imaging techniques complement each other and can help with the diagnosis. To the best of our knowledge, this coexistence has not been previously reported.

  6. T-wave inversions related to left ventricular basal hypertrophy and myocardial fibrosis in non-apical hypertrophic cardiomyopathy: A cardiovascular magnetic resonance imaging study

    Energy Technology Data Exchange (ETDEWEB)

    Chen, Xiuyu, E-mail: cxy0202@126.com [Department of Radiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037 (China); Zhao, Shihua, E-mail: zhaoshihua0202@126.com [Department of Radiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037 (China); Zhao, Tao, E-mail: taozhao0202@126.com [Department of Radiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037 (China); Lu, Minjie, E-mail: lmjkan@126.com [Department of Radiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037 (China); Yin, Gang, E-mail: gangyin0202@126.com [Department of Radiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037 (China); Jiang, Shiliang, E-mail: jiangsl-2011@163.com [Department of Radiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037 (China); Prasad, Sanjay, E-mail: s.prasad@rbht.nhs.uk [NIHR Biomedical Research Unit, Royal Brompton Hospital Sydney Street, London, SW3 6NP (United Kingdom)

    2014-02-15

    Objectives: To investigate the relationship between T-wave inversions and left ventricular (LV) segmental hypertrophy and myocardial fibrosis assessed by cardiovascular magnetic resonance (CMR) in patients with non-apical hypertrophic cardiomyopathy (HCM). Methods: 196 consecutive patients with non-apical HCM underwent late gadolinium enhancement (LGE) CMR and 12-lead electrocardiogram. The distribution and magnitude of LV segmental hypertrophy and LGE were assessed according to the AHA 17-segment model and analyzed in relation to T-wave inversions. Results: Of 196 HCM patients, 144 (73%) exhibited T-wave inversions. 144 (73%) patients had evidence of myocardial fibrosis as defined by LGE, and the prevalence of LGE was significantly higher in patients with T-wave inversions compared with those without T-wave inversions (78% vs. 59%, P = 0.008). T-wave inversions were related to basal anterior and basal anteroseptal LGE (20% vs. 10%, P = 0.04 and 68% vs. 46%, P = 0.005, respectively). In addition, T-wave inversions were associated with greater basal anteroseptal and basal inferior wall thickness (19.5 ± 4.7 mm vs. 16.7 ± 4.5 mm, P < 0.001 and 10.9 ± 3.3 mm vs. 9.6 ± 3.0 mm, P = 0.01, respectively). By logistic regression analysis, basal anteroseptal wall thickness and LGE were independent determinants of T-wave inversions (P = 0.005, P = 0.01, respectively). Conclusions: T-wave inversions in HCM are associated with LGE and wall thickness of the left ventricular basal segments. Moreover, basal anteroseptal wall thickness and LGE are independent determinants of T-wave inversions.

  7. T-wave inversions related to left ventricular basal hypertrophy and myocardial fibrosis in non-apical hypertrophic cardiomyopathy: A cardiovascular magnetic resonance imaging study

    International Nuclear Information System (INIS)

    Chen, Xiuyu; Zhao, Shihua; Zhao, Tao; Lu, Minjie; Yin, Gang; Jiang, Shiliang; Prasad, Sanjay

    2014-01-01

    Objectives: To investigate the relationship between T-wave inversions and left ventricular (LV) segmental hypertrophy and myocardial fibrosis assessed by cardiovascular magnetic resonance (CMR) in patients with non-apical hypertrophic cardiomyopathy (HCM). Methods: 196 consecutive patients with non-apical HCM underwent late gadolinium enhancement (LGE) CMR and 12-lead electrocardiogram. The distribution and magnitude of LV segmental hypertrophy and LGE were assessed according to the AHA 17-segment model and analyzed in relation to T-wave inversions. Results: Of 196 HCM patients, 144 (73%) exhibited T-wave inversions. 144 (73%) patients had evidence of myocardial fibrosis as defined by LGE, and the prevalence of LGE was significantly higher in patients with T-wave inversions compared with those without T-wave inversions (78% vs. 59%, P = 0.008). T-wave inversions were related to basal anterior and basal anteroseptal LGE (20% vs. 10%, P = 0.04 and 68% vs. 46%, P = 0.005, respectively). In addition, T-wave inversions were associated with greater basal anteroseptal and basal inferior wall thickness (19.5 ± 4.7 mm vs. 16.7 ± 4.5 mm, P < 0.001 and 10.9 ± 3.3 mm vs. 9.6 ± 3.0 mm, P = 0.01, respectively). By logistic regression analysis, basal anteroseptal wall thickness and LGE were independent determinants of T-wave inversions (P = 0.005, P = 0.01, respectively). Conclusions: T-wave inversions in HCM are associated with LGE and wall thickness of the left ventricular basal segments. Moreover, basal anteroseptal wall thickness and LGE are independent determinants of T-wave inversions

  8. Hypertrophic cardiomyopathy screening in young athletes

    Energy Technology Data Exchange (ETDEWEB)

    Rappoport, W.J. [Arizona Heart Inst., Phoenix, AZ (United States); Steingard, P.M. [Phoenix Suns, Phoenix, AZ (United States)

    2006-07-01

    Hypertrophic cardiomyopathy is the leading cause of sudden death during vigorous exercise. Early identification of this abnormality by ECG screening of high-school athletes before they participate in competitive sports helps save lives. (orig.)

  9. Athlete's heart or hypertrophic cardiomyopathy?

    Science.gov (United States)

    Lauschke, Jörg; Maisch, Bernhard

    2009-02-01

    Intensive endurance training is able to cause a distinct pattern of functional and structural changes of the cardiovascular system. In an unknown proportion of athletes a so called "athlete's heart" develops. There is an overlap between this type of physiologic cardiac hypertrophy and mild forms of hypertrophic cardiomyopathy (HCM), the most common genetic disorder of the cardiovascular system with a prevalence of 0.2%. HCM is caused by mutations in 14 genes coding for sarcomere proteins. In the literature up to 50% of cases of sudden cardiac death (SCD) in younger sportsmen were connected to hypertrophic cardiomyopathy. It is therefore the most common cause of SCD in highly trained young athletes. Because of this data a great interest in distinguishing these two diagnoses exists. Apart from clinical examination and some non-specific ECG-changes, Echocardiography is the method of choice. The athlete's heart shows an eccentric biventricular hypertrophy with wall thicknesses under 15 mm and a moderately dilated left ventricle (LVEDD up to 58 mm). HCM is commonly characterized by asymmetric left ventricular hypertrophy with a reduced LV-diameter. In up to 70% of cases left ventricular outflow tract obstruction is evident during stress echocardiography. Systolic function is normal in highly trained athletes and the majority of HCM patients as well. There are important differences regarding diastolic filling patterns. Physiological hypertrophy is consistent with a normal diastolic function with even increased early diastolic filling. In case of HCM diastolic dysfunction (mostly relaxation disturbances) occurs in the majority of patients and is therefore inconsistent with an athlete's heart. If the diagnosis could not be stated using echocardiography, methods like cardiac-MRI, metabolic exercise testing, histological studies of endomyocardial biopsies and genetic testing can provide further information. A correct diagnosis may on the one hand prevent some athletes from

  10. Fabry Disease in Families With Hypertrophic Cardiomyopathy

    DEFF Research Database (Denmark)

    Adalsteinsdottir, Berglind; Palsson, Runolfur; Desnick, Robert J

    2017-01-01

    BACKGROUND: The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA(α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B...

  11. Hypertrophic Cardiomyopathy Update on Prognosis and Therapy

    NARCIS (Netherlands)

    C. van der Lee (Christiaan)

    2006-01-01

    textabstractHypertrophic cardiomyopathy (HCM) is an intriguing disease due to its heterogeneity in genetic, morphologic, and clinical spectrum. The insights in the prognosis and natural history of HCM have evolved tremendously over the past 40 years. The fi rst studies, which contained data

  12. Hypertrophic Cardiomyopathy in Athletes: Catching a Killer.

    Science.gov (United States)

    Maron, Barry J.

    1993-01-01

    A leading cause of sudden death among young athletes, hypertrophic cardiomyopathy (HCM) does not always present cardiac signs and symptoms. Echocardiography offers the most effective means for diagnosis. Some patients require pharmaceutical or surgical intervention. Patients with HCM should not engage in organized competitive sports or…

  13. Functional effects of losartan in hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Axelsson, Anna Karin Irene; Iversen, Kasper; Vejlstrup, Niels G.

    2016-01-01

    OBJECTIVE: There is a lack of disease-modifying treatments in hypertrophic cardiomyopathy (HCM). The aim of this randomised, placebo-controlled study was to assess if losartan could improve or ameliorate deterioration of cardiac function and exercise capacity. METHODS: Echocardiography, exercise...

  14. Pregnancy in women with hypertrophic cardiomyopathy

    NARCIS (Netherlands)

    Pieper, P. G.; Walker, F.

    Hypertrophic cardiomyopathy (HCM) is increasingly being diagnosed in pregnant women. Women with HCM generally tolerate pregnancy well. The risk is however higher in women who are symptomatic before pregnancy or in those with severe left ventricular outflow tract obstruction. The incidence of

  15. Multivessel myocardial bridging in a patient with spiral hypertrophic cardiomyopathy

    OpenAIRE

    Fritz, Timothy; Abdallah, Wissam; McNamara, Richard

    2016-01-01

    Myocardial bridging is commonly observed in hypertrophic cardiomyopathy, usually confined to the left anterior descending (LAD), and correlates to the hypertrophic septum. We present a patient with unique spiral hypertrophic cardiomyopathy (HCM) and compression of all three coronary arteries corresponding to this hypertrophy pattern.

  16. Evaluation of left ventricular torsion in children with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Prinz, Christian; Faber, Lothar; Horstkotte, Dieter; Körperich, Hermann; Moysich, Axel; Haas, Nikolaus; Kececioglu, Deniz; Thorsten Laser, Kai

    2014-04-01

    To evaluate the role of torsion in hypertrophic cardiomyopathy in children. A total of 88 children with idiopathic hypertrophic cardiomyopathy (n = 24) and concentric hypertrophy (n = 20) were investigated with speckle-tracking echocardiography and compared with age- and gender-matched healthy controls (n = 44). In hypertrophic cardiomyopathy, we found increased torsion (2.8 ± 1.6 versus 1.9 ± 1.0°/cm [controls], p Hypertrophic cardiomyopathy patients demonstrated a negative correlation between left ventricular muscle mass and torsion (r = -0.7, p hypertrophic cardiomyopathy is characterised by predominantly enhanced systolic basal clockwise rotation. Diastolic untwisting is delayed in both groups. Torsion may be an interesting marker to guide patients with hypertrophic cardiomyopathy.

  17. ACE I/D polymorphism in Indian patients with hypertrophic cardiomyopathy and dilated cardiomyopathy

    DEFF Research Database (Denmark)

    Rai, Taranjit Singh; Dhandapany, Perundurai Subramaniam; Ahluwalia, Tarun Veer Singh

    2008-01-01

    The study was carried to determine the association of angiotensin converting enzyme (ACE) insertion/deletion (I/D) polymorphism with the risk of hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and restrictive cardiomyopathy (RCM)....

  18. Cushing's syndrome in pregnancy and neonatal hypertrophic obstructive cardiomyopathy.

    Science.gov (United States)

    Fayol, L; Masson, P; Millet, V; Simeoni, U

    2004-10-01

    Cushing's syndrome is rare in pregnancy but can cause spontaneous abortion, stillbirth or premature birth. We report a case of transient hypertrophic obstructive cardiomyopathy in a newborn whose mother had hypercortisolism due to a primary adrenal lesion. There was no family history of hypertrophic obstructive cardiomyopathy. Follow-up revealed complete resolution of the cardiac abnormalities in the infant. Cushing's syndrome in the mother resolved after delivery. Although maternal hypercortisolism seldom results in symptomatic hypercortisolism in the newborn, hypertrophic obstructive cardiomyopathy can occur.

  19. Cardiovascular magnetic resonance in hypertrophic cardiomyopathy and infiltrative cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Rebecca Schofield

    2016-11-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is the most common inherited cardiac disease. Cardiac imaging plays a key role in the diagnosis and management, with cardiovascular magnetic resonance (CMR an important modality. CMR provides a number of different techniques in one examination: structure and function, flow imaging and tissue characterisation particularly with the late gadolinium enhancement (LGE technique. Other techniques include vasodilator perfusion, mapping (especially T1 mapping and extracellular volume quantification [ECV] and diffusion-weighted imaging with its potential to detect disarray. Clinically, the uses of CMR are diverse. The imaging must be considered within the context of work-up, particularly the personal and family history, Electrocardiogram (ECG and echocardiogram findings. Subtle markers of possible HCM can be identified in genotype positive left ventricular hypertrophy (LVH-negative subjects. CMR has particular advantages for assessment of the left ventricle (LV apex and is able to detect both missed LVH (apical and basal antero-septum, when the echocardiography is normal but the ECG abnormal. CMR is important in distinguishing HCM from both common phenocopies (hypertensive heart disease, athletic adaptation, ageing related changes and rarer pheno and/or genocopies such as Fabry disease and amyloidosis. For these, in particular the LGE technique and T1 mapping are very useful with a low T1 in Fabry’s, and high T1 and very high ECV in amyloidosis. Moreover, the tissue characterisation that is possible using CMR offers a potential role in patient risk stratification, as scar is a very strong predictor of future heart failure. Scar may also play a role in the prediction of sudden death. CMR is helpful in follow-up assessment, especially after septal alcohol ablation and myomectomy.

  20. Cardiovascular magnetic resonance in hypertrophic cardiomyopathy and infiltrative cardiomyopathy

    OpenAIRE

    Schofield, R.; Manacho, K.; Castelletti, S.; Moon, J. C.

    2016-01-01

    Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Cardiac imaging plays a key role in the diagnosis and management, with cardiovascular magnetic resonance (CMR) an important modality. CMR provides a number of different techniques in one examination: structure and function, flow imaging and tissue characterisation particularly with the late gadolinium enhancement (LGE) technique. Other techniques include vasodilator perfusion, mapping (especially T1 mapping and ex...

  1. Hypertrophic cardiomyopathy presenting with 3rd-degree atrioventricular block.

    OpenAIRE

    Rosen, K L; Cameron, R W; Bigham, P J; Neish, S R

    1997-01-01

    A 15-year-old boy presented with exercise intolerance and near syncope. Electrocardiography showed 3rd-degree atrioventricular block. He was treated emergently with temporary transvenous ventricular pacing. Two-dimensional echocardiography revealed hypertrophic cardiomyopathy. Subsequently, a permanent, transvenous, dual-chamber pacemaker was implanted. Hypertrophic cardiomyopathy rarely causes complete atrioventricular block. It is particularly unusual for the presenting symptoms of hypertro...

  2. Septal alcoholization in hypertrophic cardiomyopathy: about 11 cases

    African Journals Online (AJOL)

    Outcomes of septal alcoholization in hypertrophic obstructive cardiomyopathy are not enough studied in all centers. The purpose of this study was to determine the outcomes of septal alcoholization in hypertrophic obstructive cardiomyopathy in our hospital. A retrospective and prospective descriptive study focused on all ...

  3. The Role of Echocardiography in Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Jing Ping Sun

    2017-02-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is a common genetic cardiovascular disease and appears in all ethnic groups. HCM is diagnosed on the basis of left ventricular hypertrophy. Echocardiography is a key technique in the diagnosis of HCM, the prognosis of patients with HCM, the management strategy for HCM, and the follow-up of patients with HCM. This review briefly describes and discusses the practical use of established echocardiography techniques and the current and emerging echocardiographic methods that can help physicians in the correct diagnostic and pathophysiological assessment of patients with HCM.

  4. Cardiovascular magnetic resonance in hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Shiozaki, Afonso Akio; Parga, Jose Rodrigues; Arteaga, Edmundo; Rochitte, Carlos Eduardo [Sao Paulo Univ. (USP), SP (Brazil). Instituto do Coracao. Setor de Tomografia Computarizada e Ressonancia Magnetica Cardiovascular]. E-mail: rochitte@incor.usp.br; Kim, Raymond J. [Duke Cardiovascular Magnetic Resonance Center, Durham, NC (United States); Tassi, Eduardo Marinho [Diagnosticos da America S.A., Rio de Janeiro, RJ (Brazil). Sector of Cardiovascular Magnetic Resonance and Computed Tomography

    2007-03-15

    Hypertrophic cardiomyopathy (HCM) is the most frequent genetic cardiac disease that causes sudden death in young people, with an incidence of 1:500 adults. The routinely used criteria for worst prognosis have limited sensitivity and specificity. Thus, the estimated risk of evolving to dilated cardiomyopathy or sudden death is somewhat inaccurate, leading to management uncertainty of HCM patients. Therefore, an accurate noninvasive method for the diagnosis of HCM with prognostic value is of great importance. In the last years, Cardiovascular Magnetic Resonance (CMR) emerged not only as a diagnostic tool, but also as a study with prognostic values, by characterizing myocardial fibrosis with great accuracy in HCM patients. Additionally, CMR identifies the types of hypertrophy, analyses the ventricular function, estimates the intraventricular gradient and allows the determination of differential diagnosis. Moreover, CMR can uniquely access myocardial fibrosis in HCM. (author)

  5. Cardiovascular magnetic resonance in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Shiozaki, Afonso Akio; Parga, Jose Rodrigues; Arteaga, Edmundo; Rochitte, Carlos Eduardo; Tassi, Eduardo Marinho

    2007-01-01

    Hypertrophic cardiomyopathy (HCM) is the most frequent genetic cardiac disease that causes sudden death in young people, with an incidence of 1:500 adults. The routinely used criteria for worst prognosis have limited sensitivity and specificity. Thus, the estimated risk of evolving to dilated cardiomyopathy or sudden death is somewhat inaccurate, leading to management uncertainty of HCM patients. Therefore, an accurate noninvasive method for the diagnosis of HCM with prognostic value is of great importance. In the last years, Cardiovascular Magnetic Resonance (CMR) emerged not only as a diagnostic tool, but also as a study with prognostic values, by characterizing myocardial fibrosis with great accuracy in HCM patients. Additionally, CMR identifies the types of hypertrophy, analyses the ventricular function, estimates the intraventricular gradient and allows the determination of differential diagnosis. Moreover, CMR can uniquely access myocardial fibrosis in HCM. (author)

  6. Correlation of Electrocardiographic Changes with Cardiac Magnetic Resonance Findings in Patients with Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Gabriela Miana de Mattos Paixão

    Full Text Available Abstract Background: Electrocardiogram is the initial test in the investigation of heart disease. Electrocardiographic changes in hypertrophic cardiomyopathy have no set pattern, and correlates poorly with echocardiographic findings. Cardiac magnetic resonance imaging has been gaining momentum for better assessment of hypertrophy, as well as the detection of myocardial fibrosis. Objectives: To correlate the electrocardiographic changes with the location of hypertrophy in hypertrophic cardiomyopathy by cardiac magnetic resonance. Methods: This descriptive cross-sectional study evaluated 68 patients with confirmed diagnosis of hypertrophic cardiomyopathy by cardiac magnetic resonance. The patients’ electrocardiogram was compared with the location of the greatest myocardial hypertrophy by cardiac magnetic resonance. Statistical significance level of 5% and 95% confidence interval were adopted. Results: Of 68 patients, 69% had septal hypertrophy, 21% concentric and 10% apical hypertrophies. Concentric hypertrophy showed the greatest myocardial fibrosis mass (p < 0.001 and the greatest R wave size in D1 (p = 0.0280. The amplitudes of R waves in V5 and V6 (p = 0.0391, p = 0.0148 were higher in apical hypertrophy, with statistical significance. Apical hypertrophy was also associated with higher T wave negativity in D1, V5 and V6 (p < 0.001. Strain pattern was found in 100% of the patients with apical hypertrophy (p < 0.001. Conclusion: The location of myocardial hypertrophy by cardiac magnetic resonance can be correlated with electrocardiographic changes, especially for apical hypertrophy.

  7. Myocardial glucose metabolism in patients with hypertrophic cardiomyopathy. Assessment by F-18-FDG PET study

    Energy Technology Data Exchange (ETDEWEB)

    Uehara, Toshiisa [Osaka Univ., Suita (Japan). Medical School; Ishida, Yoshio; Hayashida, Kohei [and others

    1998-04-01

    In an investigation of myocardial metabolic abnormalities in hypertrophic myocardium, the myocardial glucose metabolism was evaluated with F-18-fluorodeoxyglucose (FDG) positron emission tomography (PET) in 32 patients with hypertrophic cardiomyopathy, and the results were compared with those in 9 patients with hypertensive heart disease. F-18-FDG PET study was performed in the fasting and glucose-loading states. The myocardial regional %dose uptake was calculated quantitatively. The average regional %dose uptake in the fasting state in the patients with asymmetric septal hypertrophy and dilated-phase hypertrophic cardiomyopathy was significantly higher than that in the patients with hypertensive heart disease (0.75{+-}0.34%, 0.65{+-}0.25%, and 0.43{+-}0.22%/100 g myocardium, respectively). In contrast, the average %dose uptake in the glucose-loading state in the patients with asymmetric septal hypertrophy and dilated-phase hypertrophic cardiomyopathy was not significantly different from that in patients with hypertensive heart disease (1.17{+-}0.49%, 0.80{+-}0.44% and 0.99{+-}0.45%, respectively). The patients with apical hypertrophy had also low %dose uptake in the fasting state (0.38{+-}0.21%) as in the hypertensive heart disease patients, so that the characteristics of asymmetric septal hypertrophy and dilated-phase hypertrophic cardiomyopathy are considered to be high FDG uptake throughout the myocardium in the fasting state. Patients with apical hypertrophy are considered to belong to other disease categories metabolically. F-18-FDG PET study is useful in the evaluation of the pathophysiologic diagnosis of patients with hypertrophic cardiomyopathy. (author)

  8. RARE CASES OF HYPERTROPHIC CARDIOMYOPATHY: VARIANTS AND CLINICAL OBSERVATIONS

    Directory of Open Access Journals (Sweden)

    V. Yu. Zimina

    2015-09-01

    Full Text Available Hypertrophic cardiomyopathy belongs to a group of hereditary diseases due to sarcomere gene mutation. This abnormality is characterized by the development of symmetric or asymmetric hypertrophy of left ventricular myocardium with its normal contractile function or hypercontractility. Authors provide a brief overview of variants of hypertrophic cardiomyopathy and phenocopies of this disease, when structural changes in the heart are not the result of classic sarcomere gene mutation. In patients with some phenocopies concentric left ventricular hypertrophy can transform into its dilatation with reduced contractility. Such variant of hypertrophic cardiomyopathy is presented in the first clinical observation. The second case shows that hypertrophic cardiomyopathy can be one of the symptoms of the disease with other reasons for poor outcome.

  9. RARE CASES OF HYPERTROPHIC CARDIOMYOPATHY: VARIANTS AND CLINICAL OBSERVATIONS

    Directory of Open Access Journals (Sweden)

    V. Yu. Zimina

    2014-01-01

    Full Text Available Hypertrophic cardiomyopathy belongs to a group of hereditary diseases due to sarcomere gene mutation. This abnormality is characterized by the development of symmetric or asymmetric hypertrophy of left ventricular myocardium with its normal contractile function or hypercontractility. Authors provide a brief overview of variants of hypertrophic cardiomyopathy and phenocopies of this disease, when structural changes in the heart are not the result of classic sarcomere gene mutation. In patients with some phenocopies concentric left ventricular hypertrophy can transform into its dilatation with reduced contractility. Such variant of hypertrophic cardiomyopathy is presented in the first clinical observation. The second case shows that hypertrophic cardiomyopathy can be one of the symptoms of the disease with other reasons for poor outcome.

  10. MT-CYB mutations in hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Hagen, Christian M; Aidt, Frederik H; Havndrup, Ole

    2013-01-01

    Mitochondrial dysfunction is a characteristic of heart failure. Mutations in mitochondrial DNA, particularly in MT-CYB coding for cytochrome B in complex III (CIII), have been associated with isolated hypertrophic cardiomyopathy (HCM). We hypothesized that MT-CYB mutations might play an important...... and m.15482T>C; p.S246P were identified. Modeling showed that the p.C93Y mutation leads to disruption of the tertiary structure of Cytb by helix displacement, interfering with protein-heme interaction. The p.S246P mutation induces a diproline structure, which alters local secondary structure and induces...... of HCM patients. We propose that further patients with HCM should be examined for mutations in MT-CYB in order to clarify the role of these variants....

  11. Percutaneous septal ablation for left mid-ventricular obstructive hypertrophic cardiomyopathy: a case report

    Directory of Open Access Journals (Sweden)

    Alioglu Emin

    2006-04-01

    Full Text Available Abstract Background Mid-ventricular obstructive hypertrophic cardiomyopathy (MVOHC is a rare type of cardiomyopathy. The diagnosis is based on the hourglass appearance on the left ventriculogram and the presence of pressure gradient between apical and basal chamber of the ventriculum on the hemodynamic assessment. Case presentation The present case represents successful percutaneous treatment with septal ablation to patient with MVOHC associated with systolic anterior motion of the mitral valve and obstruction at both the mid-ventricular and outflow levels. Conclusion Alcohol septal ablation has been proposed as less invasive alternatives to surgery in patients with MVOHC.

  12. Cardiac sarcoid: a chameleon masquerading as hypertrophic cardiomyopathy and dilated cardiomyopathy in the same patient.

    Science.gov (United States)

    Agarwal, Anushree; Sulemanjee, Nasir Z; Cheema, Omar; Downey, Francis X; Tajik, A Jamil

    2014-05-01

    Sarcoidosis is a multisystem, granulomatous disease of unknown etiology often seen in young adults, with cardiac involvement in more than one-quarter of sarcoid patients. The clinical presentation of cardiac sarcoid depends upon the location and extent of myocardium involved. Although cardiac sarcoid may produce asymmetrical septal hypertrophy, it is most commonly considered in the differential diagnosis of dilated cardiomyopathy. The hypertrophic stage of cardiac sarcoid is rarely seen. We describe a case of cardiac sarcoid in a young patient wherein a distinctive appearance of the cardiac sarcoid spectrum from "hypertrophic" stage to thinned/scarred stage, masquerading as hypertrophic cardiomyopathy followed by dilated cardiomyopathy, is demonstrated. © 2014, Wiley Periodicals, Inc.

  13. HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY AS A SIDE-EFFECT OF DEXAMETHASONE TREATMENT FOR BRONCHOPULMONARY DYSPLASIA

    NARCIS (Netherlands)

    BRAND, PLP; VANLINGEN, RA; BRUS, F; TALSMA, MD; ELZENGA, NJ

    1993-01-01

    We report three infants who developed hypertrophic obstructive cardiomyopathy during dexamethasone treatment for bronchopulmonary dysplasia. In all three infants, echocardiography had ruled out cardiac abnormalities prior to the dexamethasone course. The hypertrophic obstructive cardiomyopathy

  14. Syncope in children with hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    I. V. Leontyeva

    2014-01-01

    Full Text Available Seventy children aged 7 to 17 years with hypertrophic cardiomyopathy (HCM were examined; among them there were 11 syncope patients and 5 presyncope patients. The screening program included standard electrocardiography (ECG, Doppler echocardiogra-phy, 24-hour Holter ECG monitoring, and an incremental exercise testing (Bruce treadmill test. The markers of myocardial electrical instability were determined. In the children with HCM, syncope was established to be heterogeneous; it had an arrhythmogenic origin and, in most cases, occurred in the presence of tachyarrhythmia (44% or bradyarrythmia (25%; its vasovagal genesis was probable in one third of the examinees. The children with syncope were typified by the asymmetric, obstructive form of HCM, at the same tone there was most commonly left ventricular hypertrophy concurrent with left atrial enlargement. 24-hour Holter monitoring showed that bradycardia was prevalent in the patients, 3 patients were found to have more than 2-second cardiac rhythm pauses caused by second-degree atrioventricular block in 1 case or by sick sinus syndrome in 2. Nonsustained ventricular tachycardia was noted in two patients. The children with syncope were typified by the signs of myocardial electrical instability as a reduction in the early phase of heart rate turbulence and by impaired QT/RR interval adaptation as hyperadaptation. The paper presents the developed management tactics for children with syncope and indications for the implantation of a cardioverter defibrillator, a pacemaker, or an ECG loop recorder.

  15. A One Health Approach to Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Ueda, Yu; Stern, Joshua A

    2017-09-01

    Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease in humans and results in significant morbidity and mortality. Research over the past 25 years has contributed enormous insight into this inherited disease particularly in the areas of genetics, molecular mechanisms, and pathophysiology. Our understanding continues to be limited by the heterogeneity of clinical presentations with various genetic mutations associated with HCM. Transgenic mouse models have been utilized especially studying the genotypic and phenotypic interactions. However, mice possess intrinsic cardiac and hemodynamic differences compared to humans and have limitations preventing their direct translation. Other animal models of HCM have been studied or generated in part to overcome these limitations. HCM in cats shows strikingly similar molecular, histopathological, and genetic similarities to human HCM, and offers an important translational opportunity for the study of this disease. Recently, inherited left ventricular hypertrophy in rhesus macaques was identified and collaborative investigations have been conducted to begin to develop a non-human primate HCM model. These naturally-occurring large-animal models may aid in advancing our understanding of HCM and developing novel therapeutic approaches to this disease. This review will highlight the features of HCM in humans and the relevant available and developing animal models of this condition.

  16. Significance of myocardial scintigraphy in hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Emoto, Tsugumichi; Shimizu, Yoshimi; Yuo, Hiroyuki (Kanazawa Univ. (Japan). School of Medicine) (and others)

    1994-02-01

    The study investigated the relationship between the occurrence incidence of abnormal findings on exercice Tl-201 myocardial scintigraphy and pathophysiology in hypertrophic cardiomyopathy (HCM). Fifty HCM patients underwent exercise Tl-201 scintigraphy. Simultaneously, 12-lead ECG was recorded during exercise. In addition, 17 patients, who were randomly selected from the 50 patients, underwent I-123 BMIPP myocardial scintigraphy. Abnormal findings were observed in 23 of the 50 patients (46%) on Tl images. Among these patients, 19 patients (38%) had redistribution on 3 hr images (the group of reversible defects (R)), and 4 (8%) had no redistribution (the group of fixed defects (F)). Regarding the occurrence incidence of ischemic ST changes and exercise tolerance ability, there was no difference between the group of normal findings and the group of R. In the group of F, however, ST changes were seen in all patients, although there was no difference in exercise tolerance ability. Of 17 patients who underwent I-123 BMIPP scintigraphy, 7 had normal findings on Tl images. Of these 7, 4 had abnormal findings on BMIPP images and decreased exercise tolerance ability as well. These findings suggest the necessity for careful follow-up even in HCM patients who had no abnormal findings on Tl images. (N.K.).

  17. Danon’s disease as a cause of hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    I. V. Leontyeva

    2015-01-01

    Full Text Available Hypertrophic cardiomyopathy is the most common inherited disease of the myocardium. The causes of the disease are heterogeneous; its primary form results from mutations in the genes encoding cardiac sarcomeric proteins; its secondary (metabolic and syndromic forms develop due to mutations in the genes encoding non-sarcomeric proteins. Glycogenosis is the most common cause of the metabolic ones of hypertrophic cardiomyopathy. Danon’s disease (lysosome-associated membrane protein 2 (LAMP2-cardiomyopathy is a form of glycogenosis and it is characterized by a typical triad: hypertrophic cardiomyopathy, mental retardation, and skeletal myopathy. The disease occurs with mutations in the LAMP2 gene; X-linked dominant inheritance. LAMP2-cardiomyopathy does not virtually differ in its clinical manifestations from the severe form of hypertrophic cardiomyopathy, which results from mutations in the sarcomeric protein genes. The disease is characterized by a poor progressive course with the high probability of causing sudden death or with the progression of severe heart failure. Implantation of a cardioverter defibrillator is a main method to prevent sudden cardiac death. 

  18. Twenty Years of Alcohol Septal Ablation in Hypertrophic Obstructive Cardiomyopathy

    Science.gov (United States)

    Rigopoulos, Angelos G.; Seggewiss, Hubert

    2016-01-01

    Hypertrophic obstructive cardiomyopathy is the most common genetic cardiac disease and is generally characterised by asymmetric septal hypertrophy and intraventricular obstruction. Patients with severe obstruction and significant symptoms that persist despite optimal medical treatment are candidates for an invasive septal reduction therapy. Twenty years after its introduction, percutaneous transluminal alcohol septal ablation has been increasingly preferred for septal reduction in patients with drug refractory hypertrophic obstructive cardiomyopathy. Myocardial contrast echocardiography and injection of reduced alcohol volumes have increased safety, while efficacy is comparable to the surgical alternative, septal myectomy, which has for decades been regarded as the ‘gold standard’ treatment. Data on medium- and long-term survival show improved prognosis with survival being similar to the general population. Current guidelines have supported its use by experienced operators in centres specialised in the treatment of patients with hypertrophic obstructive cardiomyopathy. PMID:25563291

  19. Comparison among patients with hypertrophic cardiomyopathy, hypertrophic cardiomyopathy with hypertension and hypertensive heart disease by {sup 123}I-BMIPP myocardial scintigraphy

    Energy Technology Data Exchange (ETDEWEB)

    Yoneyama, Satoshi; Sugihara, Hiroki; Ito, Kazuki [Kyoto Prefectural Univ. of Medicine (Japan)] [and others

    1997-12-01

    The usefulness of {sup 123}I-BMIPP myocardial SPECT in discriminating hypertrophic cardiomyopathy (46 patients), hypertrophic cardiomyopathy with hypertension (23 patients), and hypertensive hypertrophic heart (20 patients) was studied. SPECT image was divided into 17 domains, and dimension of decreased accumulation was decided visually at each domain as four classes called defect score (DS). Summation of DS (TDS) of each group was used to compare frequency and dimension of decreased accumulation, and characteristic of each site. Frequency of decreased accumulation and TDS in hypertrophic cardiomyopathy were similar in dimension with those in hypertrophic cardiomyopathy with hypertension, and those data in hypertensive hypertrophic heart were lower than those in above-mentioned 2 groups. In the cases of hypertrophic cardiomyopathy and hypertrophic cardiomyopathy with hypertension, decreased accumulation site was similar and was anterior wall-septum junction, septum-posterior wall junction and apex of heart. In the case of hypertensive hypertrophic heart, decreased accumulation site was only the posterior wall. Frequency, dimension and site of decreased accumulation in hypertrophic cardiomyopathy were different from those in hypertensive hypertrophic heart, and BMIPP was thought to be useful in discriminating these diseases. (K.H.)

  20. Emotional stress triggers symptoms in hypertrophic cardiomyopathy: a survey of the Hypertrophic Cardiomyopathy Association.

    Science.gov (United States)

    Lampert, Rachel; Salberg, Lisa; Burg, Matthew

    2010-09-01

    Symptoms are among the most important factors impacting quality of life (QOL) in hypertrophic cardiomyopathy (HCM) patients, and reflect a poor prognosis. Whether emotional stress can trigger symptoms of chest pain, dyspnea, palpitations, and lightheadedness has not been described. Members of the Hypertrophic Cardiomyopathy Association (HCMA) received an electronic link via e-mail to an ongoing online survey, also accessed via links on the HCMA message-board and homepage. Between May 2007 and November 2008, there were 1,297 respondents. The survey queried demographic and self-reported clinical information, and types and triggers of symptoms. Respondents reported physical and emotional QOL on a 1-10 Likert scale. Symptoms reported included chest pain (49%), dyspnea (70%), palpitations (61%), and syncope/lightheadedness (59%). The most common symptom trigger was exertion, 64% describing symptoms while climbing stairs or hills. Forty-nine percent described experiencing symptoms during emotional stress. Those reporting chest pain were more likely to report emotion triggering (60%) than those reporting palpitations, syncope/lightheadedness, or dyspnea (50-54% each). Both physical and emotional QOL were significantly decreased in those describing emotion-triggered symptoms. Women were more likely than men to report symptoms overall, as well as emotion-triggered symptoms (50% vs 35%, P symptoms (79% vs 58%, P symptoms, both emotion- and exertion-triggered symptoms remained significantly more common in women. Triggering of symptoms by emotion is common in individuals with HCM. Further studies will determine pathways linking emotional stressors with chest pain, dyspnea, palpitations, and lightheadedness in these patients. ©2010, The Authors. Journal compilation ©2010 Wiley Periodicals, Inc.

  1. Penetrance of Hypertrophic Cardiomyopathy in Children Who Are Mutation Positive

    NARCIS (Netherlands)

    Vermeer, Alexa M. C.; Clur, Sally-Ann B.; Blom, Nico A.; Wilde, Arthur A. M.; Christiaans, Imke

    2017-01-01

    Objectives To investigate the presence of hypertrophic cardiomyopathy (HCM) at first cardiac evaluation and during follow-up and cardiac events in predictively tested children who are mutation positive. Study design The study included 119 predictively tested children who were mutation positive, with

  2. The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study

    DEFF Research Database (Denmark)

    Hedley, Paula L; Haundrup, Ole; Andersen, Paal S

    2011-01-01

    as well as the T-tubules of the sarcolemma. It has been suggested that minK forms part of an "electro-mechanical feed-back" which links cardiomyocyte stretching to changes in ion channel function. We examined whether mutations in KCNE genes were associated with hypertrophic cardiomyopathy (HCM), a genetic...

  3. Hypertrophic Cardiomyopathy in a Middle Aged Man - A Case Report

    African Journals Online (AJOL)

    Background: Hypertrophic cardiomyopathy (HCM) is a disease of the myocardium with autosomal dominant pattern of inheritance. It is characterized by inappropriate hypertrophy involving either the interventricular septum, apex or left ventricular free wall in isolation or combined. The disease is often asymptomatic and may ...

  4. Hypertrophic cardiomyopathy in South African Blacks | Lewis | South ...

    African Journals Online (AJOL)

    Hypertrophic cardiomyopathy (HCM) has been considered rare among the Black population of southern Africa. We report 7 patients with the disease who presented during a 14-month period. Current concepts in the approach to the diagnosis and treatment of HCM are discussed. It is possible that with greater awareness of ...

  5. Prognosis in hypertrophic cardiomyopathy observed in a large clinic population

    NARCIS (Netherlands)

    M.J.M. Kofflard (Marcel); D.J. Waldstein; J. Vos (Jeroen); F.J. ten Cate (Folkert)

    1993-01-01

    textabstractOverall annual cardiac mortality in hypertrophic cardiomyopathy (HC) has been reported to be between 2 and 4%, although these numbers are primarily from retrospective studies of patients referred to large research institutions. A clinic population of 113 patients with HC was

  6. Peripheral vascular structure and function in hypertrophic cardiomyopathy

    NARCIS (Netherlands)

    Rowley, N.J.; Green, D.J.; George, K.; Thijssen, D.H.J.; Oxborough, D.; Sharma, S.; Somauroo, J.D.; Jones, J.; Sheikh, N.; Whyte, G.

    2012-01-01

    BACKGROUND: Hypertrophic cardiomyopathy (HCM) is characterised by idiopathic cardiac enlargement and represents the most frequent cause of sudden cardiac death in athletes under the age of 35 years. Differentiation between physiological (ie, exercise-related) and pathological (ie, HCM-related)

  7. Atrioventricular conduction after alcohol septal ablation for obstructive hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Axelsson, Anna; Weibring, Kristina; Havndrup, Ole

    2014-01-01

    AIMS: Lesion of the atrioventricular conduction system is a well known adverse effect of alcohol septal ablation (ASA) in patients with obstructive hypertrophic cardiomyopathy (HCM). We assessed the atrioventricular conduction at long-term follow-up after ASA. METHODS: In patients with a pacemaker...

  8. Symmetric Dimethylarginine in Cats with Hypertrophic Cardiomyopathy and Diabetes Mellitus

    DEFF Research Database (Denmark)

    Langhorn, R.; Kieler, I. N.; Koch, J.

    2018-01-01

    Background: Symmetric dimethylarginine (SDMA) has been increasingly used as a marker of early chronic kidney disease (CKD) in cats, but little is known about the influence of comorbidities on SDMA in this species. Hypothesis: Hypertrophic cardiomyopathy (HCM) and diabetes mellitus (DM), independe...... controls, a finding that needs further investigation and should be kept in mind when evaluating renal function of cats with this endocrinopathy....

  9. Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Hagen, Christian M; Aidt, Frederik H; Havndrup, Ole

    2015-01-01

    Hypertrophic cardiomyopathy (HCM) is a genetic cardiac disease primarily caused by mutations in genes coding for sarcomeric proteins. A molecular-genetic etiology can be established in ~60% of cases. Evolutionarily conserved mitochondrial DNA (mtDNA) haplogroups are susceptibility factors for HCM...

  10. Penetrance of Hypertrophic Cardiomyopathy in Children and Adolescents

    DEFF Research Database (Denmark)

    Jensen, Morten K; Havndrup, Ole; Christiansen, Michael

    2013-01-01

    The penetrance of hypertrophic cardiomyopathy (HCM) during childhood and adolescence has been only sparsely described. We studied the penetrance of HCM and the short- and long-term outcomes of clinical screening and predictive genetic testing of child relatives of patients with HCM....

  11. Cardiac symptoms before sudden cardiac death caused by hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Lynge, Thomas Hadberg; Risgaard, Bjarke; Jabbari, Reza

    2016-01-01

    AIMS: Hypertrophic cardiomyopathy (HCM) is a frequent cause of sudden cardiac death (SCD) among the young (SCDY). The aim of this study was to characterize symptoms before SCDY due to HCM. METHODS AND RESULTS: Through review of all death certificates, we identified all SCDs in Danes aged 1-35 years...

  12. Atrioventricular conduction after alcohol septal ablation for obstructive hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Axelsson, Anna; Weibring, Kristina; Havndrup, Ole

    2014-01-01

    AIMS: Lesion of the atrioventricular conduction system is a well known adverse effect of alcohol septal ablation (ASA) in patients with obstructive hypertrophic cardiomyopathy (HCM). We assessed the atrioventricular conduction at long-term follow-up after ASA. METHODS: In patients with a pacemake...

  13. Left ventricular function in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Takahashi, Hiromi; Yamaguchi, Ryutaro; Ifuku, Masayasu

    1985-01-01

    The present study was to investigate of left ventricular (LV) function during exercise in 26 patients with hypertrophic cardiomyopathy(HCM) usingTc-99m equilibrium angiocardiography, and to elucidate the mechanism of impaired functional reserve during exercise. In patients with HCM, LV ejection fraction decreased from 65 ± 8 (mean ± SD) % at rest to 59 ± 18 % at peak exercise, in contrast to an increase among controls (from 56 ± 9 % to 64 ± 9 %). As compared with resting values, cardiac output increased to 168 ± 24 % at peak exercise in HCM, but the increase was significantly less than that in controls (215 ± 47 %). Stroke volume decreased gradually to 83 ± 16 % during exercise in HCM, while it increased to 114 ± 10 % at an exercise level of half intensity, and it decreased slightly to 106 ± 16 % at peak exercise. LV end-systolic volume decreased among controls to 78 ± 27 % at peak exercise, but remained unchanged in HCM (118 ± 58 %). An increase in peak ejection rate at peak exercise was less in HCM than in controls (143 ± 26 % vs 170 ± 42 %). No significant differences were observed between the two groups concerning changes in indices of LV diastolic function including LV end-diastolic volume, peak filling rate or 1/3 filling rate during exercise. In the analysis of LV function curves, pulmonary arterial diastolic pressure increased to a greater extent in HCM than in controls (19 ± 6 mmHg vs 11 ± 6 mmHg); whereas, an increase in the stroke work index was less in HCM (80 ± 26 g.m/m 2 /beat vs 121 ± 21 g.m/m 2 /beat) at peak exercise. Thus, the LV function curve shifted downward and to the right in patients with HCM. The above findings indicate that LV functional reserve during exercise is impaired, especially as to systolic function in patients with HCM, while deterioration of diastolic function may be partly compromised by elevated filling pressure. (J.P.N.)

  14. Differentiation of hypertrophic cardiomyopathy from left ventricular hypertrophy induced by essential hypertension using magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Doyoshita, Hiroko; Murakami, Eiji; Takekoshi, Noboru; Matsui, Shinobu; Nakato, Hideaki; Enyama, Hiroto

    1988-03-01

    To examine the efficacy of magnetic resonance imaging (MRI) in diagnosing hypertrophic cardiomyopathy (HCM), 16 patients with HCM and 14 hypertensives with left ventricular hypertrophy (LDH) were studied using a 0.5 Tesla Siemens MRI apparatus equipped with cardiac gating. In HCM, left ventricular hypertrophy was localized to the septal wall in four, to the apical wall in two, to both the septal and apical walls in two, and to the apical and inferior walls in one, and it was diffuse in seven patients. In hypertensives, LVH was localized to the septal wall in three, to both the septal and anterior walls in two, to the free wall in one, and it was diffuse in eight patients. The distribution of the hypertrophic portion was nearly equal in both groups. The thickest portion of the left ventricular wall was 24.6 +- 4.8 mm in HCM and 21.6 +- 5.4 mm in hypertension, and there was no significant difference between them. The T/sub 2/ relaxation time of the hypertrophic portion was 52.2 +- 4.8 msec in HCM and 45.3 +- 6.1 msec in hypertension, and there was a significant difference between them (p < 0.01). However, there were no significant differences between the T/sub 2/ relaxation times of the hypertrophic and non-hypertrophic protions in both groups. In conclusion, it may be difficult to differentiate HCM from hypertension based on the distribution of hypertrophic portions, but measurements of the T/sub 2/ relaxation times may be useful for making the differential diagnosis.

  15. Restrictive cardiomyopathy and hypertrophic cardiomyopathy overlap: the importance of the phenotype

    Directory of Open Access Journals (Sweden)

    Juan Pablo Kaski

    2012-10-01

    Full Text Available Restrictive cardiomyopathy (RCM is defined on the basis of the haemodynamic finding of restrictive ventricular physiology. However, restrictive ventricular pathophysiology is also a feature of other subtypes of cardiomyopathy, including hypertrophic cardiomyopathy (HCM. Clinically and aetiologically, there is an overlap between RCM and HCM with restrictive physiology. However, the clinical distinction between these two entities can be an important pointer towards the underlying aetiology. This review highlights the importance of the recognition of the clinical phenotype as the first step in the classification of cardiomyopathies.

  16. Clinical Features and Echocardiographic Findings in Children with Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Cristina Blesneac

    2013-12-01

    Full Text Available Background: Hypertrophic cardiomyopathy, one of the most common inherited cardiomyopathies, is a heterogeneous disease resulting from sarcomeric protein mutations, with an incidence in the adult population of 1:500. Current information on the epidemiology and outcomes of this disease in children is limited. Methods: Thirty-four children diagnosed with hypertrophic cardiomyopathy in the Pediatric Cardiology Department from Tîrgu Mureș were evaluated concerning familial and personal history, clinical, paraclinical and therapeutic aspects. Hypertrophic cardiomyopathy was defined by the presence of a hypertrophied, non-dilated ventricle, in the absence of a cardiac or systemic disease that could produce ventricular hypertrophy. Results: The youngest diagnosed child was a neonate, a total of 10 patients being diagnosed until 1 year of age. In 6 cases a positive familial history was found. Noonan syndrome was found in 2 cases. Only 21 patients were symptomatic, the predominant symptoms being shortness of breath on exertion with exercise limitations. Left ventricular outflow tract obstruction was present in 21 cases (61.7%. Twenty-four patients were on β-blocking therapy, while 4 patients underwent septal myectomy. Conclusions: Hypertrophic cardiomyopathy is a heterogeneous disorder in terms of evolution, age of onset, type and extent of hypertrophy, and the risk of sudden death. It can affect children of any age. There is a need for a complex evaluation, including familial and personal anamnesis, clinical examination, electrocardiogram and echocardiography of all patients. It is highly important to develop screening strategies, including genetic testing, for an early diagnosis, especially in asymptomatic patients with a positive familial background

  17. Transcriptional regulation of cardiac genes balance pro- and anti-hypertrophic mechanisms in hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Nina Gennebäck

    2012-06-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is characterized by unexplained left ventricular hypertrophy. HCM is often hereditary, but our knowledge of the mechanisms leading from mutation to phenotype is incomplete. The transcriptional expression patterns in the myocar - dium of HCM patients may contribute to understanding the mechanisms that drive and stabilize the hypertrophy. Cardiac myectomies/biopsies from 8 patients with hypertrophic obstructive cardiomyopathy (HOCM and 5 controls were studied with whole genome Illumina microarray gene expression (detecting 18 189 mRNA. When comparing HOCM myocardium to controls, there was significant transcriptional down-regulation of the MYH6, EGR1, APOB and FOS genes, and significant transcriptional up-regulation of the ACE2, JAK2, NPPA (ANP, APOA1 and HDAC5 genes. The transcriptional regulation revealed both pro- and anti-hypertrophic mechanisms. The pro-hypertrophic response was explained by the transcriptional down-regulation of MYH6, indicating that the switch to the fetal gene program is maintained, and the transcriptional up-regulation of JAK2 in the JAK-STAT pathway. The anti-hypertrophic response was seen as a transcriptional down-regulation of the immediate early genes (IEGs, FOS and EGR1, and a transcriptional up-regulation of ACE2 and HDAC5. This can be interpreted as a transcriptional endogenous protection system in the heart of the HOCM patients, neither growing nor suppressing the already hypertrophic myocardium.

  18. Age-dependent heterogeneity of familiar hypertrophic cardiomyopathy phenotype: a role of cardiovascular magnetic resonance.

    Science.gov (United States)

    Glaveckaitė, Sigita; Rudys, Alfredas; Mikštienė, Violeta; Valevičienė, Nomeda; Palionis, Darius; Laucevičius, Aleksandras

    2013-01-01

    In this case report, we present familiar hypertrophic cardiomyopathy with age-dependent heterogeneity of the disease phenotype among the members of one family who carry the same mutation of the myosin-binding protein C gene. Phenotypic heterogeneity is common in patients with familial forms of hypertrophic cardiomyopathy, both in clinical expression and outcome. Compared with other noninvasive cardiac imaging modalities, cardiovascular magnetic resonance provides an opportunity to more accurately characterize the varying phenotypic presentations of hypertrophic cardiomyopathy.

  19. Evaluation of left cardiac function by exercise in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Konishi, Tokuji; Horayama, Norihisa; Hamada, Masayuki; Nakano, Takeshi; Takezawa, Hideo

    1981-01-01

    Left ventricular systolic and diastolic features at rest and exercise in hypertrophic cardiomyopathy were evaluated by Fourier analysis of blood pool scintigraphy (intracorporeal labelling with sup(99m)Tc-RBC). In the normal group (17 subjects), the left ventricular ejection fraction showed a linear increase, but no abnormality of regional ventricular wall motion, by multistage exercises. The hypertrophic cardiomyopathy group showed higher left ventricular ejection fractions at rest than those of the normal group, and in the HCM group (non-obstructive, from morphological features; 7 cases) the left ventricular ejection fraction did not increase any more when it reached a certain plateau in accordance with increased stress. In the HOCM (obstructive; 5 cases), the left ventricular ejection fraction showed a decreasing tendency as the stress was increased and also showed contractile abnormalities from the left ventricular center to the apex. Fourier analysis was effective for the evaluation of these changes. (Chiba, N.)

  20. Atrial myxoma in a patient with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Abdou, Mahmoud; Hayek, Salim; Williams, Byron R

    2013-01-01

    Atrial myxoma is the most common primary cardiac tumor. Patients with atrial myxoma typically present with obstructive, embolic, or systemic symptoms; asymptomatic presentation is very rare. To our knowledge, isolated association of atrial myxoma with hypertrophic cardiomyopathy has been reported only once in the English-language medical literature. We report the case of an asymptomatic 71-year-old woman with known hypertrophic cardiomyopathy in whom a left atrial mass was incidentally identified on cardiac magnetic resonance images. After surgical excision of the mass and partial excision of the left atrial septum, histopathologic analysis confirmed the diagnosis of atrial myxoma. The patient was placed on preventive implantable cardioverter-defibrillator therapy and remained asymptomatic. The management of asymptomatic cardiac myxoma is a topic of debate, because no reports definitively favor either conservative or surgical measures.

  1. Myocardial ischemia in hypertrophic cardiomyopathy; Isquemia miocardica na cardiomiopatia hipertrofica

    Energy Technology Data Exchange (ETDEWEB)

    Lima Filho, Moyses de Oliveira; Figueiredo, Geraldo L.; Simoes, Marcus V.; Pyntia, Antonio O.; Marin Neto, Jose Antonio [Sao Paulo Univ., Ribeirao Preto, SP (Brazil). Faculdade de Medicina. Div. de Cardiologia

    2000-08-01

    Myocardial ischemia in hypertrophic cardiomyopathy is multifactorial and explains the occurrence of angina, in about 50% of patients. The pathophysiology of myocardial ischemia may be explained by the increase of the ventricular mass and relative paucity of the coronary microcirculation; the elevated ventricular filling pressures and myocardial stiffness causing a compression of the coronary microvessels; the impaired coronary vasodilator flow reserve caused by anatomic and functional abnormalities; and the systolic compression of epicardial vessel (myocardial bridges). Myocardial ischemia must be investigated by perfusion scintigraphic methods since its presence influences the prognosis and has relevant clinical implications for management of patients. Patients with hypertrophic cardiomyopathy and documented myocardial ischemia usually need to undergo invasive coronary angiography to exclude the presence of concomitant atherosclerotic coronary disease. (author)

  2. Primary amyloid heart disease presenting as hypertrophic obstructive cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Weston, L.T.; Raybuck, B.D.; Robinowitz, M.; Brinker, J.A.; Oetgen, W.J.

    1986-01-01

    This report describes the unusual presentation of a patient with primary cardiac amyloidosis. Initial clinical symptoms and hemodynamic studies, including Technetium-99m-pyrophosphate scintigraphy, suggested hypertrophic obstructive cardiomyopathy, but endomyocardial biopsy revealed diffuse amyloid infiltration. Only two other cases of left ventricular outflow tract obstruction due to cardiac amyloidosis have been reported. The false-negative technetium-99m-pyrophosphate scintigram in this patient argues for the use of endomyocardial biopsy to aid in the diagnosis of left ventricular hypertrophy.

  3. Hypertrophic Cardiomyopathy Complicated by Pulmonary Edema in the Postpartum Period

    Directory of Open Access Journals (Sweden)

    Kate Hanneman

    2013-01-01

    Full Text Available We report the case of a 42-year-old patient with hypertrophic cardiomyopathy (HCM who presented to the emergency department with severe shortness of breath one week following uneventful cesarean delivery. Thoracic CT ruled out pulmonary embolus and confirmed pulmonary edema. Asymmetric interventricular septal thickening was clearly identified, demonstrating that the heart may be evaluated even on a non-ECG gated study. Acute pulmonary edema in the postpartum period is an unusual clinical presentation of HCM.

  4. Characteristics of hypertrophic cardiomyopathy on delayed contrast-enhanced MRI

    International Nuclear Information System (INIS)

    Yan Chaowu; Zhao Shihua; Li Hua; Jiang Shiliang; Lu Minjie; Zhang Yan; Wei Yunqing; Ling Jian; Fang Wei

    2010-01-01

    Objective: To analyze the characteristics of hypertrophic cardiomyopathy (HCM) on delayed contrast-enhanced cardiac magnetic resonance imaging (CMRI). Methods: All patients underwent delayed contrast-enhanced CMRI. The left ventricle was divided into 9 segments to assess the location, extent and function of the hypertrophic segments. The t test was applied for the statistics. Results: Of 154 patients, delayed enhancement of' hypertrophic segment was found in 95 cases and non-delayed enhancement in 59 cases. The thickness and number of hypertrophic segment in patients with delayed enhancement were larger than those with non-delayed enhancement [(24.8±5.5) mm vs (20.4± 3.8) mm, t=3.82, P<0.05; (3.3±1.9) vs (2.4±1.7), t=2.26, P<0.05], and the age was younger [(46.0±15.2) years vs (55.0±11.9) years, t=-3.67, P<0.05]. The diffuse enhancement was found in 62 patients, and confluent enhancement in 33 patients. Confluent enhancement was found in all 14 patients after the alcohol ablation procedure. Conclusion: The age, thickness and number of hypertrophic segments in patients with delayed enhancement are different from those with non-delayed enhancement. (authors)

  5. Dizzy Spells in a Patient with Hypertrophic Obstructive Cardiomyopathy and a Pacemaker

    OpenAIRE

    Wilschut, J. M.; de Voogt, W. G.

    2010-01-01

    Pacemaker syndrome represents the clinical consequences of the haemodynamic adverse effects of atrioventricular asynchrony during pacing. Patients suffering from hypertrophic cardiomyopathy may be particularly sensitive to these effects because of the importance of atrial systolic contribution to left ventricular diastolic filling. In this case report, we describe the symptoms and cause of pacemaker syndrome in a patient with hypertrophic obstructive cardiomyopathy.

  6. Beneficial effects of biventricular pacing in a patient with hypertrophic cardiomyopathy and intraventricular conduction delay

    OpenAIRE

    Rinaldi, C A; Bucknall, C A; Gill, J S

    2002-01-01

    The beneficial use of biventricular pacing is reported in a patient with hypertrophic cardiomyopathy and intraventricular conduction delay. This resulted in improvements in symptomatic status and exercise tolerance that may be related to cardiac resynchronisation. The improvement in symptoms by biventricular pacing in a patient with hypertrophic cardiomyopathy and intraventricular conduction delay is previously undocumented and requires further investigation.

  7. Influence of Septal Thickness on the Clinical Outcome After Alcohol Septal Alation in Hypertrophic Cardiomyopathy

    DEFF Research Database (Denmark)

    Jensen, Morten K; Jacobsson, Linda; Almaas, Vibeke Marie

    2016-01-01

    BACKGROUND: We assessed the influence of interventricular septal thickness (IVSd) on the clinical outcome and survival after alcohol septal ablation (ASA) in patient with hypertrophic cardiomyopathy. METHODS AND RESULTS: We analyzed 531 patients with hypertrophic cardiomyopathy (age: 56±14 years...

  8. HYPERTROPHIC CARDIOMYOPATHY AS A PART OF INHERITED MALFORMATION SYNDROMES IN INFANTS

    Directory of Open Access Journals (Sweden)

    M.V. Tural'chuk

    2011-01-01

    Full Text Available The data of clinical and instrumental examination of two infantile patients with obstructive hypertrophic cardiomyopathy in association with marked multisystem involvement as a picture of inherited malformation syndromes are given.Key words: infants, hypertrophic cardiomyopathy, LEOPARD syndrome, Noonan syndrome.(Voprosy sovremennoi pediatrii — Current Pediatrics. 2011; 10 (3: 166–169

  9. Survival and sudden cardiac death after septal ablation for hypertrophic obstructive cardiomyopathy

    DEFF Research Database (Denmark)

    Jensen, Morten Kvistholm; Havndrup, Ole; Hassager, Christian

    2011-01-01

    Reports of long-term survival and the risk of sudden cardiac death (SCD) after percutaneous transluminal septal myocardial ablation (PTSMA) in patients with hypertrophic obstructive cardiomyopathy (HOCM) are sparse.......Reports of long-term survival and the risk of sudden cardiac death (SCD) after percutaneous transluminal septal myocardial ablation (PTSMA) in patients with hypertrophic obstructive cardiomyopathy (HOCM) are sparse....

  10. Clinical Utility of Cardiovascular Magnetic Resonance in Hypertrophic Cardiomyopathy

    Science.gov (United States)

    2012-01-01

    Hypertrophic cardiomyopathy (HCM) is characterized by substantial genetic and phenotypic heterogeneity, leading to considerable diversity in clinical course including the most common cause of sudden death in young people and a determinant of heart failure symptoms in patients of any age. Traditionally, two-dimensional echocardiography has been the most reliable method for establishing a clinical diagnosis of HCM. However, cardiovascular magnetic resonance (CMR), with its high spatial resolution and tomographic imaging capability, has emerged as a technique particularly well suited to characterize the diverse phenotypic expression of this complex disease. For example, CMR is often superior to echocardiography for HCM diagnosis, by identifying areas of segmental hypertrophy (ie., anterolateral wall or apex) not reliably visualized by echocardiography (or underestimated in terms of extent). High-risk HCM patient subgroups identified with CMR include those with thin-walled scarred LV apical aneurysms (which prior to CMR imaging in HCM remained largely undetected), end-stage systolic dysfunction, and massive LV hypertrophy. CMR observations also suggest that the cardiomyopathic process in HCM is more diffuse than previously regarded, extending beyond the LV myocardium to include thickening of the right ventricular wall as well as substantial morphologic diversity with regard to papillary muscles and mitral valve. These findings have implications for management strategies in patients undergoing invasive septal reduction therapy. Among HCM family members, CMR has identified unique phenotypic markers of affected genetic status in the absence of LV hypertrophy including: myocardial crypts, elongated mitral valve leaflets and late gadolinium enhancement. The unique capability of contrast-enhanced CMR with late gadolinium enhancement to identify myocardial fibrosis has raised the expectation that this may represent a novel marker, which may enhance risk stratification. At

  11. Clinical Utility of Cardiovascular Magnetic Resonance in Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Maron Martin S

    2012-02-01

    Full Text Available Abstract Hypertrophic cardiomyopathy (HCM is characterized by substantial genetic and phenotypic heterogeneity, leading to considerable diversity in clinical course including the most common cause of sudden death in young people and a determinant of heart failure symptoms in patients of any age. Traditionally, two-dimensional echocardiography has been the most reliable method for establishing a clinical diagnosis of HCM. However, cardiovascular magnetic resonance (CMR, with its high spatial resolution and tomographic imaging capability, has emerged as a technique particularly well suited to characterize the diverse phenotypic expression of this complex disease. For example, CMR is often superior to echocardiography for HCM diagnosis, by identifying areas of segmental hypertrophy (ie., anterolateral wall or apex not reliably visualized by echocardiography (or underestimated in terms of extent. High-risk HCM patient subgroups identified with CMR include those with thin-walled scarred LV apical aneurysms (which prior to CMR imaging in HCM remained largely undetected, end-stage systolic dysfunction, and massive LV hypertrophy. CMR observations also suggest that the cardiomyopathic process in HCM is more diffuse than previously regarded, extending beyond the LV myocardium to include thickening of the right ventricular wall as well as substantial morphologic diversity with regard to papillary muscles and mitral valve. These findings have implications for management strategies in patients undergoing invasive septal reduction therapy. Among HCM family members, CMR has identified unique phenotypic markers of affected genetic status in the absence of LV hypertrophy including: myocardial crypts, elongated mitral valve leaflets and late gadolinium enhancement. The unique capability of contrast-enhanced CMR with late gadolinium enhancement to identify myocardial fibrosis has raised the expectation that this may represent a novel marker, which may enhance

  12. Prediction of Sarcomere Mutations in Subclinical Hypertrophic Cardiomyopathy

    Science.gov (United States)

    Captur, Gabriella; Lopes, Luis R.; Mohun, Timothy J.; Patel, Vimal; Li, Chunming; Bassett, Paul; Finocchiaro, Gherardo; Ferreira, Vanessa M.; Esteban, Maite Tome; Muthurangu, Vivek; Sherrid, Mark V.; Day, Sharlene M.; Canter, Charles E.; McKenna, William J.; Seidman, Christine E.; Bluemke, David A.; Elliott, Perry M.; Ho, Carolyn Y.; Moon, James C.

    2014-01-01

    Background Sarcomere protein mutations in hypertrophic cardiomyopathy (HCM) induce subtle cardiac structural changes prior to the development of left ventricular hypertrophy (LVH). We have proposed that myocardial crypts are part of this phenotype and independently associated with the presence of sarcomere gene mutations. We tested this hypothesis in genetic HCM pre-LVH (G+LVH−). Methods and Results A multi-centre case-control study investigated crypts and 22 other cardiovascular magnetic resonance (CMR) parameters in subclinical HCM to determine their strength of association with sarcomere gene mutation carriage. The G+LVH− sample (n=73) was 29±13 years old and 51% male. Crypts were related to the presence of sarcomere mutations (for ≥1 crypt, β=2.5, 95% confidence interval [CI] 0.5-4.4, p=0.014; for ≥2 crypts, β=3.0, 95%CI 0.8-7.9, p=0.004). In combination with 3 other parameters: anterior mitral valve leaflet (AMVL) elongation (β=2.1, 95%CI 1.7-3.1, p<0.001), abnormal LV apical trabeculae (β=1.6, 95%CI 0.8-2.5, p<0.001), and smaller LV end-systolic volumes (β=1.4, 95%CI 0.5-2.3, p=0.001), multiple crypts indicated the presence of sarcomere gene mutations with 80% accuracy and an area under the curve of 0.85 (95%CI 0.8-0.9). In this G+LVH− population cardiac myosin-binding protein C mutation carriers had twice the prevalence of crypts when compared to the other combined mutations (47 vs. 23%; odds ratio, 2.9; 95%CI 1.1–7.9; p=0.045). Conclusions The subclinical HCM phenotype measured by CMR in a multi-center environment and consisting of crypts (particularly multiple), AMVL elongation, abnormal trabeculae and smaller LV systolic cavity, is indicative of the presence of sarcomere gene mutations and highlights the need for further study. PMID:25228707

  13. Mitochondrial Cardiomyopathy Presenting as Dilated Phase of Hypertrophic Cardiomyopathy Diagnosed with Histological and Genetic Analyses

    Directory of Open Access Journals (Sweden)

    Toshiki Kuno

    2017-01-01

    Full Text Available We report a case with 46-year-old man diagnosed with mitochondrial cardiomyopathy in the dilated phase of hypertrophic cardiomyopathy. Since cardiac magnetic resonance imaging, beta-methyl-p-I123-iodophenyl-pentadecanoic myocardial scintigraphy, and positron emission tomography/computed tomography revealed no remarkable findings, we performed electron microscopic examination, which aided in diagnosing mitochondrial cardiomyopathy. Muscle biopsy was also compatible with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes and DNA analysis also concluded it. Since muscle biopsy is less invasive for patients compared to endomyocardial biopsy, cardiologists need to consider it. The diagnosis of mitochondrial cardiomyopathy is helpful because it is a genetic condition and also for consideration of device therapy, as well as management for acute crisis.

  14. Influence of dynamic obstruction and hypertrophy location on diastolic function in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Avegliano, Gustavo; Costabel, J Pablo; Huguet, Marina; Thierer, Jorge; Trivi, Marcelo; Catalina, Tobon-Gomez; Petit, Mario; Bijnens, Bart; Frangi, Alejandro; Ronderos, Ricardo

    2014-03-01

    Hypertrophic cardiomyopathy (HCM) is a disease with marked genetic and phenotypic heterogeneity. It is well known that obstructive septal forms of this disease entail worse clinical outcome compared with nonobstructive septal and apical forms. The objective of this study was to analyze the differences in left ventricular diastolic function in different subgroups of HCMs and to assess the influence of the location of myocardial hypertrophy and the presence of dynamic obstruction on impairment of diastolic function and its correlation with the clinical status. We studied 86 patients with HCM; 27 with the obstructive asymmetric septal type (OAS), 37 with the nonobstructive asymmetric septal type (NOAS) and 22 with apical hypertrophic cardiomyopathy (ApHCM). Patients underwent conventional and tissue Doppler echocardiography and were assessed applying the latest recommendations regarding diastolic dysfunction. Cardiac magnetic resonance was used to study the various morphologic subtypes and quantify left ventricular mass (LVM). The early diastolic annular velocity (e') was significantly lower in OAS with a median of 5 cm/s compared with NOAS with 7 cm/s and ApHCM with 7.5 cm/s (P = 0.0002), and the E/e' ratio was 8.5 in ApHCM, 10 in NOAS and 14 in OAS (P = 0.0001); no significant differences were found in LVM or maximal wall thickness. In HCM, the location of left ventricular hypertrophy and the presence of dynamic obstruction affect the degree of diastolic dysfunction; impairment is greater in patients with the OAS type, and markedly less in patients with apical involvement.

  15. Collecting, Analyzing, and Publishing Massive Data about the Hypertrophic Cardiomyopathy

    Science.gov (United States)

    Montserrat, Lorenzo; Cotelo-Lema, Jose Antonio; Luaces, Miguel R.; Seco, Diego

    We present in this paper the architecture and some implementation details of a Document Management System and Workflow to help in the diagnosis of the hypertrophic cardiomyopathy, one of the most frequent genetic cardiovascular diseases. The system allows a gradual and collaborative creation of a knowledge base about the mutations associated with this disease. The system manages both the original documents of the scientific papers and the data extracted from these papers by the experts. Furthermore, a semiautomatic report generation module exploits this knowledge base to create high quality reports about the studied mutations.

  16. Tetralogy of Fallot and hypertrophic cardiomyopathy: a rare association

    Directory of Open Access Journals (Sweden)

    Carvalho Angela Maria Férrer

    2003-01-01

    Full Text Available Tetralogy of Fallot is known as the most common cyanotic congenital heart disease and has a prevalence of 10% of all congenital heart diseases. Although many other heart anomalies may coexist, the association of tetralogy of Fallot and hypertrophic cardiomyopathy is extremely rare. We report this association in a 15-month-old female, cyanotic since birth, in her first hospital admission for diagnosis and treatment of recurring cyanotic crises. In addition, a review of the literature and of the problems related to the treatment is provided.

  17. Two different cardiomyopathies in a single patient : hypertrophic cardiomyopathy and left ventricular noncompaction.

    Science.gov (United States)

    Sunbul, M; Ozben, B; Mutlu, B

    2013-05-01

    Hypertrophic cardiomyopathy is a complex and relatively common genetic disorder characterized by left ventricular (LV) hypertrophy, usually associated with a nondilated and hyperdynamic chamber with heterogeneous phenotypic expression and clinical course. On the other hand, LV noncompaction is an uncommon cardiomyopathy characterized by the persistence of fetal myocardium with a pattern of prominent trabecular meshwork and deep intertrabecular recesses, systolic dysfunction, and LV dilatation. We report a 29-year-old man with these two different inherent conditions. Our case raises the possibility of a genetic mutation common to these two clinical entities or different gene mutations existing in the same individual.

  18. The quantitative diagnosis of thallium-201 myocardial perfusion images and vectorcardiograms in myocardial infarction and hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Watanabe, Yoshihiko; Yasui, Shoji; Inagaki, Haruo; Kawai, Naoki; Sotobata, Iwao.

    1981-01-01

    Correlation studies were carried out between thallium-201 myocardial perfusion images and vectorcardiograms in 77 patients with myocardial infarction (48 anterior and 29 inferior infarctions) and 30 patients with hypertrophic cardiomyopathy. A quantitative method was developed; myocardial 201 Tl uptake index (a relative myocardial activity to background, MUI) and myocardial 201 Tl uptake ratio (a ratio of regional myocardial counts to maximal myocardial counts, MUR) were utilized to differentiate myocardial infarction from hypertrophic cardiomyopathy, and evaluate them. A fairly good agreement between left ventriculograms and myocardial perfusion images was obtained in myocardial infarction (diagnostic accuracy 95.1% in anterior and 75.6% in inferior infarction). In anterior infarction the linear relationship of r = -0.58 (p 201 Tl images (septal, apical and anterior, apical and septal, and anterior dominant types). Azimuth angles of instantaneous 10 msec vector were directed right-anteriorly (mean 114.5 degrees) in septal hypertrophy, and left-anteriorly (mean 84.9 degrees) in apical and anterior hypertrophy. Elevation angle of maximal T vector in apical hypertrophy was deviated superiorly (mean 102.6 degrees). There was a good correlation (r = 0.60, p < 0.001) between the magnitude of spatial maximal QRS vector and lateral wall MUR. (author)

  19. The Portuguese Registry of Hypertrophic Cardiomyopathy: Overall results.

    Science.gov (United States)

    Cardim, Nuno; Brito, Dulce; Rocha Lopes, Luís; Freitas, António; Araújo, Carla; Belo, Adriana; Gonçalves, Lino; Mimoso, Jorge; Olivotto, Iacopo; Elliott, Perry; Madeira, Hugo

    2018-01-01

    We report the results of the Portuguese Registry of Hypertrophic Cardiomyopathy, an initiative that reflects the current spectrum of cardiology centers throughout the territory of Portugal. A direct invitation to participate was sent to cardiology departments. Baseline and outcome data were collected. A total of 29 centers participated and 1042 patients were recruited. Four centers recruited 49% of the patients, of whom 59% were male, and mean age at diagnosis was 53±16 years. Hypertrophic cardiomyopathy (HCM) was identified as familial in 33%. The major reason for diagnosis was symptoms (53%). HCM was obstructive in 35% of cases and genetic testing was performed in 51%. Invasive septal reduction therapy was offered to 8% (23% of obstructive patients). Most patients (84%) had an estimated five-year risk of sudden death of Portugal is characterized by relatively advanced age at diagnosis, and a high proportion of invasive treatment of obstructive forms. Long-term mortality is low; heart failure is the most common cause of death followed by sudden cardiac death. However, the burden of morbidity remains considerable, emphasizing the need for disease-specific treatments that impact the natural history of the disease. Copyright © 2017 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

  20. An Unusual Presentation of a Myocardial Crypt in Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Danny A. J. P. van de Sande

    2014-01-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is a common inherited cardiovascular disease with prevalence of 0.2% in the population. More than 1000 mutations in more than 10 genes encoding for proteins of the cardiac sarcomere have been identified. Cardiac magnetic resonance imaging (CMR is used to characterize left ventricular morphology with great precision in patients with HCM and it identifies unique structural abnormalities in patients with HCM. We present a case of a 56-year-old man who had positive family history of HCM who was a carrier of the genetic MYH-7 2770 G > C, exon 23 mutation. Transthoracic echocardiography showed thickening of the interventricular septum (16 mm and in particular the basal septum. CMR confirmed the diagnosis of HCM in the anteroseptal myocardium with a thickness of 23 mm and also revealed large and deep myocardial crypts in the anterior wall. These myocardial crypts are rarely found in the so-called genotype positive and phenotype positive patients, as in our case. Also the crypts in this case are deeper and wider than those reported in other cases. So in conclusion, this case reveals an uncommon finding of a myocardial crypt at an unusual myocardial site with the unusual morphology in a patient with genotypic and phenotypic expression of hypertrophic cardiomyopathy.

  1. Family communication in a population at risk for hypertrophic cardiomyopathy.

    Science.gov (United States)

    Batte, Brittany; Sheldon, Jane P; Arscott, Patricia; Huismann, Darcy J; Salberg, Lisa; Day, Sharlene M; Yashar, Beverly M

    2015-04-01

    Encouraging family communication is an integral component of genetic counseling; therefore, we sought to identify factors impacting communication to family members at risk for Hypertrophic Cardiomyopathy (HCM). Participants (N = 383) completed an online survey assessing: 1) demographics (gender, genetic test results, HCM family history, and disease severity); 2) illness representations; 3) family functioning and cohesiveness; 4) coping styles; 5) comprehension of HCM autosomal dominant inheritance; and 6) communication of HCM risk information to at-risk relatives. Participants were a national sample of individuals with HCM, recruited through the Hypertrophic Cardiomyopathy Association. Data from 183 participants were analyzed using a logistic regression analysis, with family communication as a dichotomous dependent variable. We found that female gender and higher comprehension of autosomal dominant inheritance were significant predictors of participants' communication of HCM risk information to all their siblings and children. Our results suggest that utilizing interventions that promote patient comprehension (e.g., a teaching-focused model of genetic counseling) are important and may positively impact family communication within families with HCM.

  2. Efficacy of Gd-DTPA-enhanced MRI in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Okamoto, Shinya; Aoki, Toshikazu; Konishi, Tokuji; Nakano, Takeshi; Yamakado, Kyoichiro; Sakuma, Hajime; Takeda, Kann; Nakagawa, Takashi

    1991-01-01

    The cabability of magnetic resonance (MR) imaging to detect tissue characterization or myocardial degeneration process of the hypertrophied myocardium was evaluated in 15 patients with hypertrophic cardiomyopathy. T1-weighted MR images were obtained with a 1.5 T MR unit by using ECG-gated spin-echo techniques. MR images were visually reviewed before and after enhancement of Gd-DTPA. Four patients had an increase in signal intensity mainly in the endocardium of the left ventricular septum on non-enhanced MR images, 3 of whom had widespread high intensity in addition to two-thirds of the wall. Gd-DTPA enhanced-MR images showed high intensity over the whole septum in 5 patients and also in the antero-lateral endocardium in 4 patients. Decreased intensity on non-enhanced MR images, as shown in 4 patients, became clear on enhanced-MR images. According to findings on enhanced-MR images, signal intensity was defined as normal (N), septum (S), and diffuse (D). Patients in Group D tended to be younger and have more frequently family history. Regarding both interventricular septum thickness and left ventricular posterior wall thickness, there was no significant difference among the three groups. Both left ventricular diastolic diameter and left ventricular systolic diameter were significantly larger in Group D than the other two groups. Left ventricular ejection fraction was significantly lower in both Group S and Group D. Widespread abnormal intensity on Gd-DTPA enhanced MR images was associated with findings similar to dilated cardiomyopathy, such as dilated left ventricular lumen and decreased ejection fraction. Gd-DTPA enhanced MR imaging seemed to be useful for visualizing myocardial degeneration in hypertrophic cardiomyopathy.(N.K.)

  3. Lysosome-associated hypertrophic cardiomyopathy (Danon's disease in two siblings

    Directory of Open Access Journals (Sweden)

    I. V. Leontyeva

    2015-01-01

    Full Text Available The paper presents a clinical observation of two siblings with Danon's disease (lysosome-associated cardiomyopathy verified by genetic examination. Heart lesion in Danon's disease bears a phenotypic similarity to the primary forms of hypertrophic cardiomyopathy; in this connection the correct etiology of the disease has remained long unestablished. The presence of laboratory markers as the significantly raised levels of transaminases, creatine phosphokinase, and lactate dehydrogenase was as a guide for suspecting the metabolic origin of the disease. Two siblings with a similar LAMP gene mutation were observed to have a different clinical course: a severer clinical course of cardiomyopathy with extreme myocardial hypertrophy, myocardial electric instability, and mental development retardation in one case and a more favorable course in the other; although a 2-year follow-up also revealed negative changes. For the prevention of sudden cardiac death, a cardioverter defibrulator was implanted and continuous therapy with p-adrenoblockers was performed. The specific feature of the cases was no symptoms of skeletal myopathy, moderate mental retardation only in the elder brother, no evidence of an accessory atrioventricular junction despite the fact that there were ECG manifestations of Wolff-Parkinson-White syndrome

  4. Hypertrophic cardiomyopathy: an autopsy analysis of 14 cases.

    Directory of Open Access Journals (Sweden)

    Phadke R

    2001-07-01

    Full Text Available BACKGROUND: Hypertrophic cardiomyopathy (HCM is one of the less common forms of primary cardiomyopathies. There is little data available on HCM in Indian literature. AIMS: To assess the incidence and analyse the clinicopathological features of HCM. SETTINGS: Analysis of data of 15 years from a tertiary care centre. METHODS AND MATERIAL: The clinical and pathological data in fourteen cases of HCM with respect to their gross and microscopic features and clinical presentation were reviewed. RESULTS: Incidence of HCM amongst the autopsied primary cardiomyopathies (N = 101 was 13.9% (n=14. Males were affected more. Common presenting symptoms were exertional dyspnoea, angina and palpitations. Concentric and asymmetric hypertrophy was equally seen. Obliterative small vessel disease was noted in 50% of the cases. Although significant myofibre disarray (>5% was seen in all fourteen cases, it could be demonstrated in only 40- 50% of an average of twenty sections studied. Type IA myofibre disarray was the commonest. Six of the fourteen patients died suddenly. Cardiac failure was the commonest cause of death. CONCLUSIONS: Myofibre disarray is a highly sensitive and specific marker for HCM only when considered in a quantitative rather than a qualitative fashion. In this context, the rationale for performing endomyocardial biopsy is to rule out mimics of HCM.

  5. Determination of multidirectional myocardial deformations in cats with hypertrophic cardiomyopathy by using two-dimensional speckle-tracking echocardiography.

    Science.gov (United States)

    Suzuki, Ryohei; Mochizuki, Yohei; Yoshimatsu, Hiroki; Teshima, Takahiro; Matsumoto, Hirotaka; Koyama, Hidekazu

    2017-12-01

    Objectives Hypertrophic cardiomyopathy, a primary disorder of the myocardium, is the most common cardiac disease in cats. However, determination of myocardial deformation with two-dimensional speckle-tracking echocardiography in cats with various stages of hypertrophic cardiomyopathy has not yet been reported. This study was designed to measure quantitatively multidirectional myocardial deformations of cats with hypertrophic cardiomyopathy. Methods Thirty-two client-owned cats with hypertrophic cardiomyopathy and 14 healthy cats serving as controls were enrolled and underwent assessment of myocardial deformation (peak systolic strain and strain rate) in the longitudinal, radial and circumferential directions. Results Longitudinal and radial deformations were reduced in cats with hypertrophic cardiomyopathy, despite normal systolic function determined by conventional echocardiography. Cats with severely symptomatic hypertrophic cardiomyopathy also had lower peak systolic circumferential strain, in addition to longitudinal and radial strain. Conclusions and relevance Longitudinal and radial deformation may be helpful in the diagnosis of hypertrophic cardiomyopathy. Additionally, the lower circumferential deformation in cats with severe hypertrophic cardiomyopathy may contribute to clinical findings of decompensation, and seems to be related to severe cardiac clinical signs. Indices of multidirectional myocardial deformations by two-dimensional speckle-tracking echocardiography may be useful markers and help to distinguish between cats with hypertrophic cardiomyopathy and healthy cats. Additionally, they may provide more detailed assessment of contractile function in cats with hypertrophic cardiomyopathy.

  6. Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Ho, Carolyn Y; Carlsen, Christian; Thune, Jens Jakob

    2009-01-01

    BACKGROUND: Genetic testing identifies sarcomere mutation carriers (G+) before clinical diagnosis of hypertrophic cardiomyopathy (HCM), allowing characterization of initial disease manifestations. Previous studies demonstrated that impaired relaxation develops before left ventricular hypertrophy...

  7. Echocardiographic evaluation of pre-diagnostic development in young relatives genetically predisposed to hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Jensen, Morten K; Havndrup, Ole; Christiansen, Michael

    2015-01-01

    Identification of the first echocardiographic manifestations of hypertrophic cardiomyopathy may be important for clinical management and our understanding of the pathogenesis. We studied the development of pre-diagnostic echocardiographic changes in young relatives to HCM patients during long...

  8. Mitochondrial dysfunction and oxidative stress in Naturally-Occurring Feline Hypertrophic Cardiomyopathy

    DEFF Research Database (Denmark)

    Christiansen, Liselotte Bruun

    Background: Hypertrophic cardiomyopathy (HCM) is a primary myocardial disease, characterized by unexplained hypertrophy of the left ventricle. HCM features similar clinical and pathological characteristics in human beings and cats and is a common cause of sudden death and heart failure...

  9. Safety profile and utility of treadmill exercise in patients with high-gradient hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Sorensen, Lars Lindholm; Liang, Hsin-Yueh; Pinheiro, Aurelio

    2017-01-01

    BACKGROUND: Exercise echocardiography in the evaluation of hypertrophic cardiomyopathy (HCM) provides valuable information for risk stratification, selection of optimal treatment, and prognostication. However, HCM patients with left ventricular outflow tract gradients ≥30mm Hg are often excluded ...

  10. Ventricular Arrhythmias in Hypertrophic Cardiomyopathy- Can We Ever Predict Them?

    Directory of Open Access Journals (Sweden)

    Narayanan Namboodiri

    2010-03-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is characterized by gross cardiac and myocyte hypertrophy, myocyte disarray, and interstitial fibrosis. This condition is relatively common, with a prevalence of about 1:500 in the general population. Most patients with HCM are either asymptomatic or have only minimal symptoms. In general, HCM is a relatively benign disease with an annual mortality rate of slightly less than 1% in unselected HCM populations [1,2]. However, sudden cardiac death (SCD may be the first manifestation of the disease. Approximately 60% to 70% of all patients with HCM die suddenly [3], and the fatal event is generally assumed, though not proven so far, due to ventricular arrhythmias.

  11. Hypertrophic Cardiomyopathy: How do Mutations Lead to Disease?

    Energy Technology Data Exchange (ETDEWEB)

    Marsiglia, Júlia Daher Carneiro, E-mail: julia.marsiglia@usp.br; Pereira, Alexandre Costa [Instituto do Coração, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP (Brazil)

    2014-03-15

    Hypertrophic cardiomyopathy (HCM) is the most common monogenic genetic cardiac disease, with an estimated prevalence of 1:500 in the general population. Clinically, HCM is characterized by hypertrophy of the left ventricle (LV) walls, especially the septum, usually asymmetric, in the absence of any cardiac or systemic disease that leads to a secondary hypertrophy. The clinical course of the disease has a large inter- and intrafamilial heterogeneity, ranging from mild symptoms of heart failure late in life to the onset of sudden cardiac death at a young age and is caused by a mutation in one of the genes that encode a protein from the sarcomere, Z-disc or intracellular calcium modulators. Although many genes and mutations are already known to cause HCM, the molecular pathways that lead to the phenotype are still unclear. This review focus on the molecular mechanisms of HCM, the pathways from mutation to clinical phenotype and how the disease's genotype correlates with phenotype.

  12. Hypertrophic cardiomyopathy secondary to hepatitis C virus-related vasculitis.

    Science.gov (United States)

    Cavalli, Giulio; Berti, Alvise; Fragasso, Gabriele; De Cobelli, Francesco

    2016-12-01

    : Almost invariably associated with chronic HCV infection, cryoglobulinemic vasculitis is a small-vessel vasculitis commonly affecting the skin, kidneys, and peripheral nervous system. Cardiac involvement, possibly due to cardiac microcirculation involvement, is an utterly rare and severe complication. We describe a case of hypertrophic cardiomyopathy secondary to cryoglobulinemic vasculitis. Evaluation with transthoracic cardiac ultrasound and cardiac MRI evidenced severe left ventricular hypertrophy and diffuse hypokinesia, a marked decrease in left ventricular ejection fraction, and a subtle late enhancement of inferior and lateral left ventricular walls. Upon clinical stabilization, the patient received treatment with anti-CD20 monoclonal antibody rituximab. Clinical and radiological follow-up with cardiac ultrasound and cardiac MRI documented a dramatic and sustained clinical improvement, with marked reduction of left ventricular hypertrophy, resolution of late enhancement, recovery of left ventricular contractility and function.

  13. Hypertrophic cardiomyopathy and ultra-endurance running - two incompatible entities?

    Directory of Open Access Journals (Sweden)

    Wilson Mathew G

    2011-11-01

    Full Text Available Abstract Regular and prolonged exercise is associated with increased left ventricular wall thickness that can overlap with hypertrophic cardiomyopathy (HCM. Differentiating physiological from pathological hypertrophy has important implications, since HCM is the commonest cause of exercise-related sudden cardiac death in young individuals. Most deaths have been reported in intermittent 'start-stop' sports such as football (soccer and basketball. The theory is that individuals with HCM are unable to augment stroke volume sufficiently to meet the demands of endurance sports and are accordingly 'selected-out' of participation in such events. We report the case of an ultra-endurance athlete with 25 years of > 50 km competitive running experience, with genetically confirmed HCM; thereby demonstrating that these can be two compatible entities.

  14. Hypertrophic cardiomyopathy and ultra-endurance running - two incompatible entities?

    Science.gov (United States)

    Wilson, Mathew G; Chandra, Navin; Papadakis, Michael; O'Hanlon, Rory; Prasad, Sanjay K; Sharma, Sanjay

    2011-11-29

    Regular and prolonged exercise is associated with increased left ventricular wall thickness that can overlap with hypertrophic cardiomyopathy (HCM). Differentiating physiological from pathological hypertrophy has important implications, since HCM is the commonest cause of exercise-related sudden cardiac death in young individuals. Most deaths have been reported in intermittent 'start-stop' sports such as football (soccer) and basketball. The theory is that individuals with HCM are unable to augment stroke volume sufficiently to meet the demands of endurance sports and are accordingly 'selected-out' of participation in such events. We report the case of an ultra-endurance athlete with 25 years of > 50 km competitive running experience, with genetically confirmed HCM; thereby demonstrating that these can be two compatible entities.

  15. Ultrastructural myocardial changes in seven cats with spontaneous hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Christiansen, Liselotte Bruun; Prats Gavalda, Clara; Hyttel, Poul

    2015-01-01

    OBJECTIVES: Hypertrophic cardiomyopathy (HCM) is the most common heart disease in cats and shares clinical and pathological characteristics with human HCM. Little is known about the pathogenic mechanisms underlying development of spontaneous feline HCM. ANIMALS: The study population consisted...... of seven cats diagnosed with HCM and eight age-matched cats with no evidence of cardiac disease. METHODS: Fresh myocardial biopsies taken from the middle of the left ventricular posterior free wall were obtained and examined with transmission electron microscopy. RESULTS: Electron microscopic examination...... showed ultrastructural aberrations of the myocardial cytoarchitecture and of the interstitium in the seven cats with HCM. In the most severely affected cats the myofibrils were disorganized and subsarcolemmal mitochondria were depleted. In control cats, contraction band artifacts were commonly seen...

  16. Leopard syndrome and hypertrophic cardiomyopathy: an association related to sudden death.

    Science.gov (United States)

    Antunes, Murillo de Oliveira; Arteaga, Edmundo; Matsumoto, Afonso Yoshikiro; Ianni, Barbara Maria

    2009-06-01

    We describe an uncommon association between Leopard syndrome and hypertrophic cardiomyopathy in a 27-year-old woman, who was little symptomatic and came for sudden death risk stratification and prevention. She has a rare syndrome, whose symptoms are maculae over the body and abnormalities in eyes, genital organs, heart and in growth. Association of hypertrophic cardiomyopathy with sudden death risk factors determined the implantation of cardioverter-defibrillator (ICD) for primary prevention.

  17. The Comparision of Left Atrial Functions Between Hypertrophic Cardiomyopathy and Hypertension

    Directory of Open Access Journals (Sweden)

    Ahmet Akdi

    2016-12-01

    Full Text Available INTRODUCTION: The presence of left ventricule hypertrophy (LVH due to arterial hypertension may impair atrial function. Also, hypertrophic cardiomyopathy (HCM represents a generalized myopathic process affecting both ventricular and atrial myocardium. In this study we aimed to evaluate left atrial volumes, phasic functions in hypertrophic cardiomyopathy and hypertensive heart disease. METHODS: The study consisted of 42 patients (25 men, 17 women; mean age 51.2 years with hypertrophic cardiomyopathy (n = 20 or hypertensive heart disease (n = 22. Two-dimensional echocardiographic left atrial volumes (maximal, minimal and pre-contraction volumes were obtained and left atrial phasic functions (reservoir, conduit, and pumping functions were calculated. The findings were compared with those of age- and sex-matched 20 controls (9 men, 11 women; mean age 44.2 years without structural heart disease. RESULTS: Left atrial volumes were found to be significantly increased in patients with hypertrophic cardiomyopathy and hypertensive heart disease compared with control groups. Left atrial reservoir and conduit functions were significantly lower in patients with hypertrophic cardiomyopathy than in those with hypertensive heart disease and control groups (p < 0.01 and p < 0.01, respectively. There was no significant difference of left atrial pumping functions between study groups (p = 0.2. DISCUSSION AND CONCLUSION: This study showed that left atrial minimal, maximal and pre-contraction volume indexes are increased in hypertensive and hypertrophic cardiomyopathy groups compared with control group, but there was no significant difference between hypertrophic cardiomyopathy and hypertensive patients. In hypertrophic cardiomyopathy group left atrial phasic functions, including conduit, reservoir and pump, were decreased significantly more than hypertensive and control group. In hypertensive patients left atrial phasic functions were decreased but compared with

  18. Comparison Between Clinical and Echocardiographic Findings in Infants and Children Diagnosed with Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Cristina Blesneac

    2015-06-01

    Full Text Available Background: Hypertrophic cardiomyopathy is a rather common hereditary disease with an autozomal dominant character, caused by mutations of genes that code for proteins of the cardiac sarcomere. The observed prevalence of this disease is much lower in pediatric patients compared to adults, because it’s late gene expression. Hypertrophic cardiomyopathy presenting in infancy has been shown to have a very high mortality.

  19. Hypertrophic cardiomyopathy: prognostic factors and survival analysis in 128 Egyptian patients.

    Science.gov (United States)

    El-Saiedi, Sonia A; Seliem, Zeinab S; Esmail, Reem I

    2014-08-01

    Hypertrophic cardiomyopathy is an important cause of disability and death in patients of all ages. Egyptian children may differ from Western and Asian patients in the pattern of hypertrophy distribution, clinical manifestations, and risk factors. The aim of our study was to report the clinical characteristics and outcomes of Egyptian children with hypertrophic cardiomyopathy studied over a 7-year duration and to determine whether the reported adult risk factors for sudden cardiac death are predictive of the outcome in these affected children. This retrospective study included 128 hypertrophic cardiomyopathy children. The data included personal history, family history, physical examination, baseline laboratory measurements, electrocardiogram, and Holter and echocardiographic results. Logistic regression analysis was used for the detection of risk factors of death. Fifty-one out of 128 patients died during the period of the study. Of the 51 deaths, 36 (70.5%) occurred in patients presenting before 1 year of age. Only eight patients had surgical intervention. Extreme left ventricular hypertrophy, that is, interventricular septal wall thickness or posterior wall thickness Z-score >6, sinus tachycardia, and supraventricular tachycardia were found to be independent risk factors for prediction of death in patients with hypertrophic cardiomyopathy. At our Egyptian tertiary care centre, hypertrophic cardiomyopathy has a relatively worse prognosis when compared with reports from Western and Asian series. Infants have a worse outcome than children presenting after the age of 1 year. A poorer prognosis in childhood hypertrophic cardiomyopathy is predicted by an extreme left ventricular hypertrophy, the presence of sinus tachycardia, and supraventricular tachycardia.

  20. [Gene mutation and clinical phenotype analysis of patients with Noonan syndrome and hypertrophic cardiomyopathy].

    Science.gov (United States)

    Liu, X H; Ding, W W; Han, L; Liu, X R; Xiao, Y Y; Yang, J; Mo, Y

    2017-10-02

    Objective: To analyze the gene mutations and clinical features of patients with Noonan syndrome and hypertrophic cardiomyopathy. Method: Determined the mutation domain in five cases diagnosed with Noonan syndrome and hypertrophic cardiomyopathy and identified the relationship between the mutant domain and hypertrophic cardiomyopathy by searching relevant articles in pubmed database. Result: Three mutant genes (PTPN11 gene in chromosome 12, RIT1 gene in chromosome 1 and RAF1 gene in chromosome 3) in five cases all had been reported to be related to hypertrophic cardiomyopathy. The reported hypertrophic cardiomyopathy relevant genes MYPN, MYH6 and MYBP3 had also been found in case 1 and 2. Patients with same gene mutation had different clinical manifestations. Both case 4 and 5 had RAF1 mutation (c.770C>T). However, case 4 had special face, low IQ, mild pulmonary artery stenosis, and only mild ventricular hypertrophy. Conclusion: Noonan syndrome is a genetic heterogeneity disease. Our study identified specific gene mutations that could result in Noonan syndrome with hypertrophic cardiomyopathy through molecular biology methods. The results emphasize the importance of gene detection in the management of Noonan syndrome.

  1. Relationship between electrocardiographic features and distribution of hypertrophy in patients with hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Sato, Tetsuya; Nakamura, Kazufumi; Yamanari, Hiroshi; Ohe, Tohru [Okayama Univ. (Japan). School of Medicine; Yoshinouchi, Takeo

    1998-07-01

    To evaluate the relationship between the distribution of hypertrophy and the electrocardiographic findings in patients with hypertrophic cardiomyopathy (HCM), 54 HCM patients were studied using magnetic resonance imaging. The patients were divided into 4 groups according to hypertrophic patterns: hypertrophy only at the apex (group I, n=12); hypertrophy in both the apex and base (group II, n=20); hypertrophy only at the base with asymmetric septal hypertrophy (ASH) (group IIIa, n=17); and hypertrophy only at the base without ASH (group IIIb, n=5). Abnormal Q waves in leads II, III and aV{sub F} were found in 1/12, 3/20, 10/17 and 0/5, respectively, and in leads I and aV{sub L} they were found in 1/12, 8/20, 4/17 and 1/5, respectively. The largest negative T waves (mm) were found in group I (group I vs group II vs group IIIa vs group IIIb: 15.2{+-}5.3, 8.2{+-}6.1, 1.6{+-}2.0, 0.8{+-}1.3, respectively). The largest positive T waves (mm) were identified in group IIIb (3.8{+-}3.0, 6.8{+-}3.2, 5.8{+-}3.6, 9.3{+-}2.1, respectively). The presence of abnormal Q waves reflected regional hypertrophy in HCM patients but the configuration of T waves represented the difference in the localization of hypertrophy between the basal and apical segments. (author)

  2. Sudden cardiac arrest in a young patient with hypertrophic cardiomyopathy and zero canonical risk factors: the inherent limitations of risk stratification in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Kohorst, John J; Bos, J Martijn; Hagler, Donald J; Ackerman, Michael J

    2014-01-01

    Hypertrophic cardiomyopathy is the most common heritable cardiovascular disease and a common cause of sudden cardiac death (SCD) in young adolescents and athletes. Clinical risk stratification for SCD is predicated on the presence of established risk factors; however, this assessment is far from perfect. Herein, we present a 16-year-old male who was resuscitated successfully from his sentinel event of out-of-hospital cardiac arrest. Prior to this event, he was asymptomatic and lacked all traditional SCD-predisposing risk factors for hypertrophic cardiomyopathy. © 2013 Wiley Periodicals, Inc.

  3. Misclassification of hypertrophic cardiomyopathy: validation of diagnostic codes

    Directory of Open Access Journals (Sweden)

    Magnusson P

    2017-08-01

    Full Text Available Peter Magnusson,1,2 Andreas Palm,2,3 Eva Branden,2,4 Stellan Mörner5 1Cardiology Research Unit, Department of Medicine, Karolinska Institutet, Stockholm, 2Centre for Research and Development, Uppsala University, Region Gävleborg, Gävle, 3Department of Medical Sciences, Respiratory, Allergy and Sleep Research, Uppsala University, Uppsala, 4Department of Medicine, Karolinska Institutet, Stockholm, 5Heart Center and Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden Purpose: To validate diagnostic codes for hypertrophic cardiomyopathy (HCM, analyze misclassfications, and estimate the prevalence of HCM in an unselected Swedish regional cohort.Patients and methods: Using the hospitals’ electronic medical records (used for the Swedish National Patient Register, we identified 136 patients from 2006 to 2016 with the HCM-related codes 142.1 and 142.2 (International Classification of Diseases.Results: Of a total of 129 residents in the catchment area, 88 patients were correctly classified as HCM (positive predictive value 68.2% and 41 patients (31.8% were misclassified as HCM. Among the 88 HCM patients (52.2% males, 74 were alive and 14 were dead (15.9%. This yields an HCM prevalence of 74/183,337, that is, 4.0 diagnosed cases per 10,000 in the adult population aged ≥18 years. The underlying diagnoses of misclassified cases were mainly hypertension (31.7% and aortic stenosis (22.0%. Other types of cardiomyopathies accounted for several cases of misclassification: dilated (nonischemic or ischemic, left ventricular noncompaction, and Takotsubo. Miscellaneous diagnoses were amyloidosis, pulmonary stenosis combined with ventricular septal defect, aortic insufficiency, athelete’s heart, and atrioventricular conduction abnormality. The mean age was not significantly different between HCM and misclassified patients (65.8±15.8 vs 70.1±13.4 years; P=0.177. There were 47.8% females among HCM and 60.8% females among

  4. Sudden death associated with group A streptococcal infection in an 8-year-old girl with undiagnosed hypertrophic cardiomyopathy.

    OpenAIRE

    Bragonier, R.; Oades, P.

    1998-01-01

    An 8-year-old girl died suddenly without prior symptoms. Post-mortem examination identified both systemic group A streptococcal infection and hypertrophic cardiomyopathy. She had no history of cardiac symptoms and was not in a high-risk group for sudden death due to hypertrophic cardiomyopathy. We believe the disseminated but asymptomatic group A streptococcal infection precipitated her early death from hypertrophic cardiomyopathy. Sudden unexpected death during systemic infection should be f...

  5. Assessment of reverse redistribution on exercise [sup 201]Tl myocardial SPECT in patients with hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Taniguchi, Yoko; Sugihara, Hiroki; Ootsuki, Katsuichi (Kyoto Prefectural Univ. of Medicine (Japan)) (and others)

    1993-06-01

    Reverse redistribution is revealed on exercise [sup 201]Tl myocardial SPECT in some cases of hypertrophic cardiomyopathy. Ten patients with hypertrophic cardiomyopathy without coronary artery disease who showed reverse redistribution visually were studied. Reverse redistribution was evaluated by the early and delayed images of exercise [sup 201]Tl myocardial SPECT. Relation between reverse redistribution and distribution of left ventricular hypertrophy estimated by echocardiography and magnetic resonance imaging was investigated, and the mechanism of reverse redistribution was analyzed by referring to Bull's eye display of washout rate. Reverse redistribution was displayed in non-hypertrophic region and washout rate was normal in that region and low in hypertrophic region. In conclusion, in order to interpret reverse redistribution it is necessary to recognize hypertrophic region and to refer to washout rate. (author).

  6. Clinical Profile and Consequences of Atrial Fibrillation in Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Rowin, Ethan J; Hausvater, Anais; Link, Mark S; Abt, Patrick; Gionfriddo, William; Wang, Wendy; Rastegar, Hassan; Estes, N A Mark; Maron, Martin S; Maron, Barry J

    2017-12-19

    Atrial fibrillation (AF), the most common sustained arrhythmia in hypertrophic cardiomyopathy (HCM), is capable of producing symptoms that impact quality of life and is associated with risk for embolic stroke. However, the influence of AF on clinical course and outcome in HCM remains incompletely resolved. Records of 1558 consecutive patients followed at the Tufts Medical Center Hypertrophic Cardiomyopathy Institute for 4.8±3.4 years (from 2004 to 2014) were accessed. Of the 1558 patients with HCM, 304 (20%) had episodes of AF, of which 226 (74%) were confined to symptomatic paroxysmal AF (average, 5±5; range, 1 to >20), whereas 78 (26%) developed permanent AF, preceded by 7±6 paroxysmal AF episodes. At last evaluation, 277 patients (91%) are alive at 62±13 years of age, including 89% in New York Heart Association class I or II. No difference was found in outcome measures for patients with AF and age- and sex-matched patients with HCM without AF. Four percent of patients with AF died of HCM-related causes (n=11), with annual mortality 0.7%; mortality directly attributable to AF (thromboembolism without prophylactic anticoagulation) was 0.1% per year (n=2 patients). Patients were treated with antiarrhythmic drugs (most commonly amiodarone [n=103] or sotalol [n=78]) and AF catheter ablation (n=49) or the Maze procedure at surgical myectomy (n=72). Freedom from AF recurrence at 1 year was 44% for ablation patients and 75% with the Maze procedure ( P <0.001). Embolic events were less common with anticoagulation prophylaxis (4/233, 2%) than without (9/66, 14%) ( P <0.001). Transient symptomatic episodes of AF, often responsible for impaired quality of life, are unpredictable in frequency and timing, but amenable to effective contemporary treatments, and infrequently progress to permanent AF. AF is not a major contributor to heart failure morbidity or a cause of arrhythmic sudden death; when treated, it is associated with low disease-related mortality, no different

  7. Progress with genetic cardiomyopathies: Screening, counseling, and testing in dilated, hypertrophic and arrhythmogenic right ventricular dysplasia/cardiomyopathy

    Science.gov (United States)

    Hershberger, Ray E.; Cowan, Jason; Morales, Ana; Siegfried, Jill D.

    2010-01-01

    Summary This review focuses on the genetic cardiomyopathies: principally dilated cardiomyopathy (DCM), with salient features of hypertrophic cardiomyopathy (HCM) and arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), regarding genetic etiology, genetic testing, and genetic counseling. Enormous progress has recently been made in identifying genetic causes for each cardiomyopathy, and key phenotype and genotype information is reviewed. Clinical genetic testing is rapidly emerging with a principal rationale of identifying at-risk asymptomatic or disease-free relatives. Knowledge of a disease-causing mutation can guide clinical surveillance for disease onset, thereby enhancing preventive and treatment interventions. Genetic counseling is also indicated for patients and their family members regarding the symptoms of their cardiomyopathy, its inheritance pattern, family screening recommendations, and genetic testing options and possible results. PMID:19808347

  8. Determinants of myocardial energetics and efficiency in symptomatic hypertrophic cardiomyopathy.

    Science.gov (United States)

    Timmer, Stefan A J; Germans, Tjeerd; Götte, Marco J W; Rüssel, Iris K; Dijkmans, Pieter A; Lubberink, Mark; ten Berg, Jurrien M; ten Cate, Folkert J; Lammertsma, Adriaan A; Knaapen, Paul; van Rossum, Albert C

    2010-04-01

    Next to hypertrophy, hypertrophic cardiomyopathy (HCM) is characterized by alterations in myocardial energetics. A small number of studies have shown that myocardial external efficiency (MEE), defined by external work (EW) in relation to myocardial oxidative metabolism (MVO(2)), is reduced. The present study was conducted to identify determinants of MEE in patients with HCM by use of dynamic positron emission tomography (PET) and cardiovascular magnetic resonance imaging (CMR). Twenty patients with HCM (12 men, mean age: 55.2 + or - 13.9 years) and 11 healthy controls (7 men, mean age: 48.1 + or - 10 years) were studied with [(11)C]acetate PET to assess MVO(2). CMR was performed to determine left ventricular (LV) volumes and mass (LVM). Univariate and multivariate analyses were employed to determine independent predictors of myocardial efficiency. Between study groups, MVO(2) (controls: 0.12 + or - 0.04 ml x min(-1) x g(-1), HCM: 0.13 + or - 0.05 ml x min(-1) x g(-1), p = 0.64) and EW (controls: 9,139 + or - 2,484 mmHg x ml, HCM: 9,368 + or - 2,907 mmHg x ml, p = 0.83) were comparable, whereas LVM was significantly higher (controls: 99 + or - 21 g, HCM: 200 + or - 76 g, p efficiency. Mechanical external efficiency could independently be predicted by SV and LVM.

  9. Hyaluronan and Collagen in Human Hypertrophic Cardiomyopathy: A Morphological Analysis

    Directory of Open Access Journals (Sweden)

    Martin Hellström

    2012-01-01

    Full Text Available Introduction. The hypertrophic cardiomyopathy (HCM disease process is not only limited to cardiomyocyte abnormalities but also engages the extracellular matrix. Hyaluronan (HA and its receptor CD44 are involved in cellular growth and tissue proliferation but have so far been less studied in myocardial hypertrophy. In HCM, collagens are abundant but their histological distribution and relation to hyaluronan have not been described. Material and Methods. Myocardial specimens from 5 patients with symptomatic left ventricular tract obstruction undergoing myectomy due to HCM were processed for histochemistry and immunohistochemistry. Results. HA staining was more intense in HCM patients. The histological distribution of HA was the same in patients and controls, that is, interstitial staining including the space between cardiomyocytes, in fibrous septa, and in the adventitia of intramyocardial blood vessels. CD44 was not detected in the myocardium of patients or controls. Collagen I showed the same general localisation as HA but detailed distribution differed. Conclusions. This is the first study that describes the distribution of hyaluronan in human HCM. HA staining is more intense in HCM patients but without coexpression of its receptor CD44, at least not in the chronic phase of HCM. HA and collagen I have the same localisation.

  10. Flow-Induced Mitral Leaflet Motion in Hypertrophic Cardiomyopathy

    Science.gov (United States)

    Meschini, Valentina; Mittal, Rajat; Verzicco, Roberto

    2017-11-01

    Hypertrophic cardiomyopathy (HCM) is considered the cause of sudden cardiac death in developed countries. Clinically it is found to be related to the thickening of the intra-ventricular septum combined with elongated mitral leaflets. During systole the low pressure, induced by the abnormal velocities in the narrowed aortic channel, can attract one or both the mitral leaflets causing the aortic obstruction and sometimes instantaneous death. In this paper a fluid structure interaction model for the flow in the left ventricle with a native mitral valve is employed to investigate the physio-pathology of HCM. The problem is studied using direct numerical simulations of the Navier-Stokes equations with a two-way coupled structural solver based on interaction potential approach for the structure dynamics. Simulations are performed for two different degrees of hypertrophy, and two values of pumping efficiency. The leaflets dynamics and the ventricle deformation resulting from the echocardiography of patients affected by HCM are well captured by the simulations. Moreover, the procedures of leaflets plication and septum myectomy are simulated in order to get insights into the efficiency and reliability of such surgery.

  11. Hypertrophic Obstructive Cardiomyopathy: Surgical Myectomy and Septal Ablation.

    Science.gov (United States)

    Nishimura, Rick A; Seggewiss, Hubert; Schaff, Hartzell V

    2017-09-15

    Hypertrophic cardiomyopathy is a genetic disorder characterized by marked hypertrophy of the myocardium. It is frequently accompanied by dynamic left ventricular outflow tract obstruction and symptoms of dyspnea, angina, and syncope. The initial therapy for symptomatic patients with obstruction is medical therapy with β-blockers and calcium antagonists. However, there remain a subset of patients who have continued severe symptoms, which are unresponsive to medical therapy. These patients can be treated with septal reduction therapy, either surgical septal myectomy or alcohol septal ablation. When performed by experienced operators working in high-volume centers, septal myectomy is highly effective with a >90% relief of obstruction and improvement in symptoms. The perioperative mortality rate for isolated septal myectomy in most centers is <1%. Alcohol septal ablation is a less invasive treatment. In many patients, the hemodynamic and clinical results are comparable to that of septal myectomy. However, the results of alcohol septal ablation are dependent on the septal perforator artery supplying the area of the contact between the hypertrophied septum and the anterior leaflet of the mitral valve. There are some patients, particularly younger patients with severe hypertrophy, who do not uniformly experience complete relief of obstruction and symptoms. Both techniques of septal reduction therapy are highly operator dependent. The final decision as to which approach should be selected in any given patient is dependent up patient preference and the availability and experience of the operator and institution at which the patient is being treated. © 2017 American Heart Association, Inc.

  12. Diastolic filling in a physical model of obstructive hypertrophic cardiomyopathy

    Science.gov (United States)

    Schovanec, Joseph; Samaee, Milad; Lai, Hong Kuan; Santhanakrishnan, Arvind

    2015-11-01

    Hypertrophic Cardiomyopathy (HCM) is an inherited heart disease that affects as much as one in 500 individuals, and is the most common cause of sudden death in young athletes. The myocardium becomes abnormally thick in HCM and deforms the internal geometry of the left ventricle (LV). Previous studies have shown that a vortex is formed during diastolic filling, and further that the dilated LV morphology seen in systolic heart failure results in altering the filling vortex from elliptical to spherical shape. We have also previously shown that increasing LV wall stiffness decreases the filling vortex circulation. However, alterations to intraventricular filling fluid dynamics due to an obstructive LV morphology and locally elevated wall stiffness (in the hypertrophied region) have not been previously examined from a mechanistic standpoint. We conducted an experimental study using an idealized HCM physical model and compared the intraventricular flow fields obtained from 2D PIV to a baseline LV physical model with lower wall stiffness and anatomical geometry. The obstruction in the HCM model leads to earlier breakdown of the filling vortex as compared to the anatomical LV. Intraventricular filling in both models under increased heart rates will be discussed.

  13. Hypertrophic Cardiomyopathy and Connective Tissue Dysplasia Syndrome: Comorbidity Variants

    Directory of Open Access Journals (Sweden)

    Yu. N. Belenkov

    2016-01-01

    Full Text Available Aim. To study the structure of co-morbidities, especially connective tissue undifferentiated dysplasia syndrome (CTDS, in patients with hypertrophic cardiomyopathy (HCM to develop an algorithm of complex examination of patients.Material and methods. Patients with HCM (n=186; 88 men and 78 women were examined. The diagnosis of HCM was based on current guidelines; molecular genetic study was performed in the absence of phenotypic manifestations. Echocardiography and standard examination of cardiac patient were performed in all patients to identify comorbidities. Genotyping of polymorphisms of 12 modifying genes was performed in 61 patients and 61 people in the control group.Results. HCM was most often associated with uterine myoma (52%, cardiac and extracardiac congenital malformations (50%, and thyroid diseases (37%. Combination of HCM with different variants of connective tissue dysplasia was found in 17% of patients (mitral valve prolapse – 6.3%, tricuspid valve prolapse – 2.7%, supplemental chords – 4.5%, bivalve aortic disease – 1.8%, increased left ventricular trabeculation – 3.6%, atrial septal aneurysm – 3.6%, membranous ventricular septal defect – 1.8%.Conclusion. CTDS is one of the most often associated disorders in patients with HCM. The study of the association of CTDS and HCM, the nature of their genetic structure and similarity of pathogenesis require further study.

  14. Long-term outcome of percutaneous transluminal septal myocardial ablation in hypertrophic obstructive cardiomyopathy: a Scandinavian multicenter study

    DEFF Research Database (Denmark)

    Jensen, Morten Kvistholm; Almaas, Vibeke Marie; Jacobsson, Linda

    2011-01-01

    Single-center reports on percutaneous transluminal septal myocardial ablation (PTSMA) in patients with hypertrophic obstructive cardiomyopathy have shown considerable differences in outcome.......Single-center reports on percutaneous transluminal septal myocardial ablation (PTSMA) in patients with hypertrophic obstructive cardiomyopathy have shown considerable differences in outcome....

  15. Outcome of alcohol septal ablation in mildly symptomatic patients with hypertrophic obstructive cardiomyopathy

    DEFF Research Database (Denmark)

    Veselka, Josef; Faber, Lothar; Liebregts, Max

    2017-01-01

    Background- The long-term efficacy and safety of alcohol septal ablation (ASA) in patients with highly symptomatic hypertrophic obstructive cardiomyopathy has been demonstrated. The aim of this study was to evaluate the long-term outcomes of mildly symptomatic patients with hypertrophic obstructive......, and III at the last clinical checkup, respectively. Conclusions- Mildly symptomatic hypertrophic obstructive cardiomyopathy patients treated with ASA had sustained symptomatic and hemodynamic relief with a low risk of developing severe heart failure. Their survival is comparable to the general population....... cardiomyopathy treated with ASA. Methods and Results- We retrospectively evaluated consecutive patients enrolled in the Euro-ASA registry (1427 patients) and identified 161 patients (53±13 years; 27% women) who were mildly symptomatic (New York Heart Association [NYHA] class II) pre-ASA. The median...

  16. Value of noninvasive diagnostic procedures in cardiology: typical findings in hypertrophic obstructive cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Riebeling, V.; Bubenheimer, P.

    1984-06-01

    Routine chest X-ray often yields poor information for diagnosis of heart disease. The diagnostic value of invasive procedures in cardiology is generally accepted. The patient's as well as the physician's risk of the examination, however, has to be considered. A high number of heart diseases, e.g. hypertrophic obstructive cardiomyopathy (HOCM) is mainly detected by noninvasive procedures such as auscultation, electrocardiography, phonomechanocardiography, echocardiography, physical manoeuvres, and pharmacological provocation tests. Typical findings in hypertrophic obstructive cardiomyopathy are demonstrated.

  17. Effect of Institutional Experience on Outcomes of Alcohol Septal Ablation for Hypertrophic Obstructive Cardiomyopathy

    DEFF Research Database (Denmark)

    Veselka, Josef; Faber, Lothar; Jensen, Morten Kvistholm

    2018-01-01

    BACKGROUND: The current American College of Cardiology Foundation/American Heart Association guidelines on hypertrophic cardiomyopathy state that institutional experience is a key determinant of successful outcomes and lower complication rates of alcohol septal ablation (ASA). The aim of this study...... was to evaluate the safety and efficacy of ASA according to institutional experience with the procedure. METHODS: We retrospectively evaluated 1310 patients with symptomatic obstructive hypertrophic cardiomyopathy who underwent ASA and were divided into 2 groups. The first-50 group consisted of the first...

  18. Clinical significance of giant negative T waves in hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Alfonso, F.; Nihoyannopoulos, P.; Stewart, J.; Dickie, S.; Lemery, R.; McKenna, W.J. (St. George' s Hospital Medical School, London (England))

    1990-04-01

    To assess the clinical significance of giant negative T waves in patients with hypertrophic cardiomyopathy from Western nations, clinical, echocardiographic, radionuclide and 48 h electrocardiographic (ECG) monitoring findings were compared in 27 patients with and 56 patients without giant negative T waves. Patients with giant negative T waves were older at diagnosis (43 +/- 15 versus 32 +/- 14 years, p less than 0.005), had greater ECG voltage (SV1 + RV5 = 57 +/- 20 versus 37 +/- 18 mm, p less than 0.001) and had a more vertical frontal plane axis (38.4 +/- 34 versus 13.4 +/- 45 degrees, p less than 0.05). Left ventricular wall thickness on two-dimensional echocardiography was similar at the mitral valve level (mean 16.5 +/- 4 versus 16.6 +/- 3 cm), but was greater at the papillary muscle level (mean 20.7 +/- 5 versus 17.6 +/- 3 mm, p less than 0.01) and apex (mean 23.3 +/- 5 versus 17.3 +/- 3 mm, p less than 0.001) in patients with giant negative T waves. Fewer patients with giant negative T waves had asymmetric septal hypertrophy (12 (44%) of 27 versus 36 (64%) of 56, p = 0.08) or systolic anterior motion of the mitral valve (4 (14%) of 27 versus 25 (45%) of 56, p less than 0.01), whereas left ventricular end-diastolic (44.1 +/- 6 versus 39.6 +/- 5 mm, p = 0.01) and end-systolic dimensions (27.8 +/- 4 versus 24 +/- 6 mm, p less than 0.05) were greater in this group. Nonsustained ventricular tachycardia was seen on ECG monitoring in 21% of patients in both groups.

  19. Distinguishing ventricular septal bulge versus hypertrophic cardiomyopathy in the elderly.

    Science.gov (United States)

    Canepa, Marco; Pozios, Iraklis; Vianello, Pier Filippo; Ameri, Pietro; Brunelli, Claudio; Ferrucci, Luigi; Abraham, Theodore P

    2016-07-15

    The burgeoning evidence of patients diagnosed with sigmoidal hypertrophic cardiomyopathy (HCM) later in life has revived the quest for distinctive features that may help discriminate it from more benign forms of isolated septal hypertrophy often labelled ventricular septal bulge (VSB). HCM is diagnosed less frequently than VSB at older ages, with a reversed female predominance. Most patients diagnosed with HCM at older ages suffer from hypertension, similar to those with VSB. A positive family history of HCM and/or sudden cardiac death and the presence of exertional symptoms usually support HCM, though they are less likely in older patients with HCM, and poorly investigated in individuals with VSB. A more severe hypertrophy and the presence of left ventricular outflow obstruction are considered diagnostic of HCM, though stress echocardiography has not been consistently used in VSB. Mitral annulus calcification is very prevalent in both conditions, whereas a restrictive filling pattern is found in a minority of older patients with HCM. Genetic testing has low applicability in this differential diagnosis at the current time, given that a causative mutation is found in less than 10% of elderly patients with suspected HCM. Emerging imaging modalities that allow non-invasive detection of myocardial fibrosis and disarray may help, but have not been fully investigated. Nonetheless, there remains a considerable morphological overlap between the two conditions. Comprehensive studies, particularly imaging based, are warranted to offer a more evidence-based approach to elderly patients with focal septal thickening. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  20. Clinical Characteristics and Prognosis of End-stage Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Yan Xiao

    2015-01-01

    Full Text Available Background: End-stage hypertrophic cardiomyopathy (HCM is complicated by substantial adverse events. However, few studies have focused on electrocardiographic features and their prognostic values in HCM. This study aimed to evaluate the clinical manifestations and prognostic value of electrocardiography in patients with end-stage HCM. Methods: End-stage HCM patients were enrolled from a total of 1844 consecutive HCM patients from April 2002 to November 2013 at Fuwai Hospital. Clinical data, including medical history, electrocardiography, and echocardiography, were analyzed. Cox hazards regression analysis was used to assess the risk factors for cardiovascular mortality. Results: End-stage HCM was identified in 99 (5.4% patients, averaged at 52 ± 16 years old at entry. Atrial fibrillation was observed in 53 patients and mural thrombus in 19 patients. During 3.9 ± 3.0 years of follow-up, embolic stroke, refractory heart failure, and death or transplantation were observed in 20, 39, and 51 patients, respectively. The incidence of annual mortality was 13.2%. Multivariate Cox hazards regression analysis identified New York Heart Association Class (NYHA III/IV at entry (hazard ratio [HR]: 1.99; 95% confidence interval [CI]: 1.05-3.80; P = 0.036, left bundle branch block (LBBB (HR: 2.80; 95% CI: 1.47-5.31; P = 0.002, and an abnormal Q wave (HR: 2.21; 95% CI: 1.16-4.23; P = 0.016 as independent predictors of cardiovascular death, in accordance with all-cause death and heart failure-related death. Conclusions: LBBB and an abnormal Q wave are risk factors of cardiovascular mortality in end-stage HCM and provide new evidence for early intervention. Susceptibility of end-stage HCM patients to mural thrombus and embolic events warrants further attention.

  1. Acute Effects of Nasal CPAP in Patients With Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Nerbass, Flávia B; Salemi, Vera M C; Pedrosa, Rodrigo P; Portilho, Natanael de P; Ferreira-Filho, Julio C A; Moriya, Henrique T; Antunes, Murillo O; Arteaga-Fernández, Edmundo; Drager, Luciano F; Lorenzi-Filho, Geraldo

    2016-11-01

    Hypertrophic cardiomyopathy (HCM) is a common genetic disease that may cause left ventricular outflow tract (LVOT) obstruction, heart failure, and sudden death. Recent studies have shown a high prevalence of OSA among patients with HCM. Because the hemodynamics in patients with LVOT obstruction are unstable and depend on the loading conditions of the heart, we evaluated the acute effects of CPAP on hemodynamics and cardiac performance in patients with HCM. We studied 26 stable patients with HCM divided into nonobstructive HCM (n = 12) and obstructive HCM (n = 14) groups (LVOT gradient pressure lower or higher than 30 mm Hg, respectively). Patients in the supine position while awake were continuously monitored with beat-to-beat BP measurements and electrocardiography. Two-dimensional echocardiography was performed at rest (baseline) and after 20 min of nasal CPAP at 1.5 cm H 2 O and 10 cm H 2 O, which was applied in a random order interposed by 10 min without CPAP. BP, cardiac output, stroke volume, heart rate, left ventricular ejection fraction, and LVOT gradient did not change during the study period in either group. CPAP at 10 cm H 2 O decreased right atrial size and right ventricular relaxation in all patients. It also decreased left atrial volume significantly and decreased right ventricular outflow acceleration time, suggesting an increase in pulmonary artery pressure in patients with obstructive HCM. The acute application of CPAP is apparently safe in patients with HCM, because CPAP does not lead to hemodynamic compromise. Long-term studies in patients with HCM and sleep apnea and nocturnal CPAP are warranted. ClinicalTrials.gov; No. NCT01631006; URL: www.clinicaltrials.gov. Copyright © 2016 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

  2. Pulmonary hypertension and clinical correlates in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Musumeci, Maria Beatrice; Mastromarino, Vittoria; Casenghi, Matteo; Tini, Giacomo; Francia, Pietro; Maruotti, Antonello; Romaniello, Antonella; Magrì, Damiano; Lillo, Rosa; Adduci, Carmen; Volpe, Massimo; Autore, Camillo

    2017-12-01

    Pulmonary hypertension (PH) in patients with hypertrophic cardiomyopathy (HCM) has been investigated in a small number of studies. Purpose of this study was to assess the prevalence and its association with outcome in a population of consecutive HCM outpatients. We retrospectively analyzed data of 361 consecutive HCM outpatients in whom echocardiographic measurements of pulmonary artery systolic pressure (PASP) were available at initial and most recent evaluation. Four different clinical groups were specifically investigated: patients without left ventricular outflow tract obstruction (group A, 165), with obstruction (group B, 126), patients diagnosed at the age≥65 (group C, 50) and patients with end stage (ES) HCM (group D, 20). PH was identified in 41 (11.4%) of the 361 patients at initial evaluation while it has been recognized in 25 (7,8% [1.1%/year]) during a median follow-up of 3.4years. Analysis of subgroups showed that prevalence of PH increased from patient group A to D (8%, group A, 19%, group B, 28% group C, 70%, group D, respectively, p<0,01). During follow-up, patients with PH showed a significant higher HCM-related mortality (p=0.01) and morbidity (p<0.001) as compared with those without PH, but in multivariable analysis, PH resulted an independent risk factor only for HCM-related morbidity (HR=2.50, 95% CI 1.08-5.79, p=0.03). PH affects a significant proportion of patients with HCM. Its prevalence varies according to different clinical profiles. It is associated with an unfavorable clinical outcome and is an independent predictor of morbidity. Copyright © 2017 Elsevier B.V. All rights reserved.

  3. Interaction of Adverse Disease Related Pathways in Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Rowin, Ethan J; Maron, Martin S; Chan, Raymond H; Hausvater, Anais; Wang, Wendy; Rastegar, Hassan; Maron, Barry J

    2017-12-15

    Hypertrophic cardiomyopathy (HC) has been characterized as a generally progressive genetic heart disease, creating an ominous perspective for patients and managing cardiologists. We explored the HC disease burden and interaction of adverse clinical pathways to clarify patient expectations over long time periods in the contemporary therapeutic era. We studied 1,000 consecutive HC patients (52 ± 17 years) at Tufts Medical Center, followed 9.3 ± 8 years from diagnosis, employing a novel disease pathway model: 46% experienced a benign course free of adverse pathways, but 42% of patients progressed along 1 major pathway, most commonly refractory heart failure to New York Heart Association class III or IV requiring surgical myectomy (or alcohol ablation) or heart transplant; repetitive or permanent atrial fibrillation; and least commonly arrhythmic sudden death events. Eleven percent experienced 2 of these therapeutic end points at different times in their clinical course, most frequently the combination of advanced heart failure and atrial fibrillation, whereas only 1% incurred all 3 pathways. Freedom of progression from 1 to 2 disease pathways, or from 2 to 3 was 80% and 93% at 5 years, respectively. Annual HC-related mortality did not differ according to the number of pathways: 1 (0.8%), 2 (0.8%), or 3 (2.4%) (p = 0.56), and 93% of patients were in New York Heart Association classes I or II at follow-up. In conclusion, it is uncommon for HC patients to experience multiple adverse (but treatable) disease pathways, underscoring the principle that HC is not a uniformly progressive disease. These observations provide a measure of clarity and/or reassurance to patients regarding the true long-term disease burden of HC. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. Biventricular / Left Ventricular Pacing in Hypertrophic Obstructive Cardiomyopathy: An Overview

    Directory of Open Access Journals (Sweden)

    Radu Vatasescu, MD

    2012-05-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is an autosomal dominant inherited genetic disease characterized by compensatory pathological left ventricle (LV hypertrophy due to sarcomere dysfunction. In an important proportion of patients with HCM, the site and extent of cardiac hypertrophy results in severe obstruction to LV outflow tract (LVOT, contributing to disabling symptoms and increasing the risk of sudden cardiac death (SCD. In patients with progressive and/or refractory symptoms despite optimal pharmacological treatment, invasive therapies that diminish or abolish LVOT obstruction relieve heart failure-related symptoms, improve quality of life and could be associated with long-term survival similar to that observed in the general population. The gold standard in this respect is surgical septal myectomy, which might be supplementary associated with a reduction in SCD. Percutaneous techniques, particularly alcohol septal ablation (ASA and more recently radiofrequency (RF septal ablation, can achieve LVOT gradient reduction and symptomatic benefit in a large proportion of HOCM patients at the cost of a supposedly limited septal myocardial necrosis and a 10-20% risk of chronic atrioventricular block. After an initial period of enthusiasm, standard DDD pacing failed to show in randomized trials significant LVOT gradient reductions and objective improvement in exercise capacity. However, case reports and recent small pilot studies suggested that atrial synchronous LV or biventricular (biV pacing significantly reduce LVOT obstruction and improve symptoms (acutely as well as long-term in a large proportion of severely symptomatic HOCM patients not suitable to other gradient reduction therapies. Moreover, biV/LV pacing in HOCM seems to be associated with significant LV reverse remodelling.

  5. [Sigmoid septum: A variant of the ventricular hypertrophy or of the hypertrophic cardiomyopathy?].

    Science.gov (United States)

    Gentille-Lorente, Delicia; Salvadó-Usach, Teresa

    2016-01-01

    Sigmoid septum and hypertrophic cardiomyopathy presenting with left ventricular hypertrophy and, although they appear to be different entities, often involve problems in the differential diagnosis. This study was carried out to assess the prevalence and characteristics of the echocardiographic sigmoid septum and its differential findings regarding hypertrophic cardiomyopathy. Descriptive, observational and prospective study. A total of 1,770 patients were studied by echocardiography. Sigmoid septum (focal and isolated hypertrophy of the basal interventricular septum≥13mm in men and ≥12mm in women, exceeding ≥50% of the median septum thickness) was classified as «Type 1» (≤14mm) and «Type 2» (≥15mm). There were 59 cases of sigmoid septum (prevalence of 3.3%): 26 (1.5%) patients with type 1 (50% male) and 33 (1.9%) patients with type 2 (72.7% male); there were 25 (1.4%) cases of hypertrophic cardiomyopathy (76% male). The group with type 2 sigmoid septum differed from hypertrophic cardiomyopathy in: was older (73±10.5years; Phypertrophic cardiomyopathy, patients with type 2 sigmoid septum are older and generally hypertensive; otherwise, often they have no clear differences in their clinical, electrocardiographic or echocardiographic characteristics. Therefore, cardiac resonance is helpful in the differential diagnosis. Copyright © 2016 Instituto Nacional de Cardiología Ignacio Chávez. Published by Masson Doyma México S.A. All rights reserved.

  6. Changes in left atrial deformation in hypertrophic cardiomyopathy: Evaluation by vector velocity imaging

    Directory of Open Access Journals (Sweden)

    Hala Mahfouz Badran

    2012-12-01

    Full Text Available Objectives: Hypertrophic cardiomyopathy (HCM represents a generalized myopathic process affecting both ventricular and atrial myocardium. We assessed the global and regional left atrial (LA function and its relation to left ventricular (LV mechanics and clinical status in patients with HCM using Vector Velocity Imaging (VVI. Methods: VVI of the LA and LV was acquired from apical four- and two-chamber views of 108 HCM patients (age 40±19years, 56.5% men and 33 healthy subjects, all had normal LV systolic function. The LA subendocardium was traced to obtain atrial volumes, ejection fraction, velocities, and strain (ɛ/strain rate (SR measurements. Results: Left atrial reservoir (ɛsys,SRsys and conduit (early diastolic SRe function were significantly reduced in HCM compared to controls (P-1.8s-1 was 81% sensitive and 30% specific, SRa>-1.5s-1 was 73% sensitive and 40% specific. By multivariate analysis global LVɛsys and LV septal thickness are independent predictors for LAɛsys, while end systolic diameter is the only independent predictor for SRsys, P<.001. Conclusion: Left atrial reservoir and conduit function as measured by VVI were significantly impaired while contractile function was preserved among HCM patients. Left atrial deformation was greatly influenced by LV mechanics and correlated to severity of phenotype.

  7. Atrial Fibrillation in Hypertrophic Cardiomyopathy: Is the Extent of Septal Hypertrophy Important?

    Science.gov (United States)

    Park, Kyoung-Min; Im, Sung Il; Kim, Eun Kyoung; Lee, Sang-Chol; Park, Seung-Jung; Kim, June Soo; On, Young Keun

    2016-01-01

    Hypertrophic cardiomyopathy (HCM) is a cardiac disease associated with a high incidence of atrial fibrillation (AF). Recent studies have suggested that interventricular septum thickness may influence the risk stratification of patients with AF. We evaluated the effects of septal hypertrophy on morbidity and mortality in patients with HCM. Patients were followed for a median of 6.1 years and were divided into two groups according to the extent of septal hypertrophy. A total of 1,360 HCM patients were enrolled: 482 (33%) apical or apicoseptal, 415 (28%) asymmetric septal, 388 (27%) basal septal, 38 (2.6%) concentric, and 37 (2.5%) diffuse and mixed type. Ninety-two all-cause deaths and 21 cardiac deaths occurred. The total event rates were significantly higher for patients with HCM with more extensive septal hypertrophy (group A) compared to those with HCM ± focal septal hypertrophy (group B), regardless of type (phypertrophy (phypertrophy [odds ratio (OR) 5.44 (2.29-12.92), phypertrophy is an independent predictor of progression to AF in patients with HCM.

  8. Asymmetric left ventricular hypertrophy associated with morbid obesity mimicking familial hypertrophic cardiomyopathy.

    Science.gov (United States)

    Wong, Raymond Ching-Chiew; Tan, Kong Bing

    2014-12-01

    Asymmetric septal hypertrophy with systolic anterior motion of the mitral valve is frequently a phenotypic, but not pathognomonic, expression of genetic hypertrophic cardiomyopathy (HCM) with or without obstruction. It can, however, be associated nonspecifically with other forms of increased left ventricular (LV) afterload. We herein report the case of a young man with obesity cardiomyopathy and heart failure who presented with asymmetric septal hypertrophy and marked LV hypertrophy, and endomyocardial biopsy ruled out genetic HCM.

  9. Cardiomyopathy

    Science.gov (United States)

    ... often in middle-aged people and is more likely to affect men. The most common cause is coronary artery disease or heart attack. Hypertrophic cardiomyopathy. This type involves abnormal thickening of ...

  10. Regional myocardial coronary blood flow reserve in hypertrophic cardiomyopathy assessed by digital subtraction coronary angiography

    Energy Technology Data Exchange (ETDEWEB)

    Terashima, Satoshi; Nakamura, Takashi; Furukawa, Keizo (Kyoto Prefectural Univ. of Medicine (Japan)) (and others)

    1992-01-01

    Using digital subtraction coronary angiography (DSA), we evaluated the regional myocardial coronary blood flow reserve (rMFR) in 18 patients with hypertrophic cardiomyopathy (HCM). There were 13 patients with asymmetrical septal hypertrophy (ASH), and 5 with asymmetrical apical hypertrophy (AAH). Eight subjects without apparent cardiac abnormality served as controls. Relations between the rMFR and regional wall thickness, as determined by echocardiography, were also investigated. Peak contrast density (Cm) and time to Cm (Tm) were measured from digital angiograms at the middle and distal ventricular septum (VS) and at the apical and left ventricular posterior wall (PW). The rMFR of each region of interest was expressed as the ratio of Cm/Tm at the baseline and at peak hyperemic response induced by intracoronary administration of papaverine. The rMFR was significantly lower at the VS and apex in HCM than in controls: middle VS, 1.9[+-]0.5 vs 3.9[+-]0.5, p<0.001; distal VS, 2.0[+-]0.5 vs 4.4[+-]0.9, p<0.001; and the apex, 2.0[+-]0.7 vs 4.5[+-]1.6, p<0.01. However, it did not differ at the PW; 2.6[+-]0.9 vs 3.0[+-]0.9 between the 3 groups. The middle VS and apex, where the wall was the thickest, had the lowest rMFR in ASH and AAH. Furthermore, at the VS and apex, a curvilinear relationship was observed between the rMFR and wall thickness (rMFR=-0.88 ln WT+2.39, r=-0.57, p<0.001). These results indicated that disproportionate hypertrophy contributes to impairment of the rMFR, and that the decreased rMFR may be one of the significant causes of reversible myocardial ischemia in patients with HCM. (author).

  11. Genetic Counseling and Cardiac Care in Predictively Tested Hypertrophic Cardiomyopathy Mutation Carriers: The Patients' Perspective

    NARCIS (Netherlands)

    Christiaans, Imke; van Langen, Irene M.; Birnie, Erwin; Bonsel, Gouke J.; Wilde, Arthur A. M.; Smets, Ellen M. A.

    2009-01-01

    Hypertrophic cardiomyopathy (HCM) is a common hereditary heart disease associated with sudden cardiac death. predictive genetic counseling and testing are performed using adapted Huntington guidelines, that is, psychosocial care and time for reflection are not obligatory and the test result can be

  12. LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation

    Directory of Open Access Journals (Sweden)

    Ganigara Madhusudan

    2011-01-01

    Full Text Available In LEOPARD syndrome, mutations affecting exon 13 of the PTPN11 gene have been correlated with a rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy (HCM. This is a report of early onset severe HCM in an infant with LEOPARD syndrome and an unusual mutation in exon 13, showing genotype-phenotype correlation.

  13. Sequential Atrioventricular Pacing in Patients With Hypertrophic Cardiomyopathy: An 18-year Experience.

    Science.gov (United States)

    Jurado Román, Alfonso; Montero Cabezas, José M; Rubio Alonso, Belén; García Tejada, Julio; Hernández Hernández, Felipe; Albarrán González-Trevilla, Agustín; Velázquez Martín, María T; Coma Samartín, Raúl; Rodríguez García, Jesús; Tascón Pérez, Juan C

    2016-04-01

    Controversy persists regarding the role of sequential atrioventricular pacing in patients with obstructive hypertrophic cardiomyopathy and disabling symptoms. The aim of this study was to evaluate the effect of pacing on symptoms, dynamic gradient, and left ventricular function in patients with hypertrophic cardiomyopathy. From 1991 to 2009, dual-chamber pacemakers were implanted in 82 patients with obstructive hypertrophic cardiomyopathy and disabling symptoms despite optimal medical therapy. Sequential pacing was performed with a short atrioventricular delay. Clinical and echocardiographic parameters were measured before and immediately after implantation and after a long follow-up (median, 8.5 years [range, 1-18 years]). The New York Heart Association functional class was immediately reduced after pacemaker implantation in 95% of patients (P hypertrophic cardiomyopathy improves functional class and reduces dynamic gradient and mitral regurgitation immediately after pacemaker implantation and at final follow-up. Prolonged ventricular pacing has no negative effects on systolic or diastolic function in these patients. Copyright © 2015 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

  14. Effects of permanent dual chamber pacing on myocardial perfusion in symptomatic hypertrophic cardiomyopathy

    NARCIS (Netherlands)

    Posma, JL; Blanksma, PK; VanderWall, EE; Vaalburg, W; Crijns, HJGM; Lie, KI

    1996-01-01

    Objective-Angina and the presence of myocardial ischaemia are common in hypertrophic cardiomyopathy. Dual chamber pacing results in clinical improvement in these patients. This study evaluates the effects of permanent dual chamber pacing on absolute regional myocardial perfusion and perfusion

  15. Obtaining insurance after DNA diagnostics : A survey among hypertrophic cardiomyopathy mutation carriers

    NARCIS (Netherlands)

    Christiaans, Imke; Kok, Tjitske M.; Van Langen, Irene M.; Birnie, Erwin; Bonsel, Gouke J.; Wilde, Arthur A. M.; Smets, Ellen M. A.

    2010-01-01

    Hypertrophic cardiomyopathy (HCM) is a common hereditary heart disease associated with increased mortality. Disclosure of DNA test results may have social implications such as low access to insurance. In the Netherlands, insurance companies are restricted in the use of genetic information of their

  16. Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy

    NARCIS (Netherlands)

    Christiaans, Imke; Birnie, Erwin; Bonsel, Gouke J.; Wilde, Arthur A.M.; van Langen, Irene M.

    2008-01-01

    Hypertrophic cardiomyopathy is a common autosomal dominant disease, associated with heart failure and arrhythmias predisposing to sudden cardiac death. After the detection of the causal mutation in the proband predictive DNA testing of relatives is possible (cascade screening). Prevention of sudden

  17. Obtaining insurance after DNA diagnostics: a survey among hypertrophic cardiomyopathy mutation carriers

    NARCIS (Netherlands)

    Christiaans, Imke; Kok, Tjitske M.; van Langen, Irene M.; Birnie, Erwin; Bonsel, Gouke J.; Wilde, Arthur A. M.; Smets, Ellen M. A.

    2010-01-01

    Hypertrophic cardiomyopathy (HCM) is a common hereditary heart disease associated with increased mortality. Disclosure of DNA test results may have social implications such as low access to insurance. In the Netherlands, insurance companies are restricted in the use of genetic information of their

  18. Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers: The patients' perspective

    NARCIS (Netherlands)

    Christiaans, Imke; Van Langen, Irene M.; Birnie, Erwin; Bonsel, Gouke J.; Wilde, Arthur A. M.; Smets, Ellen M. A.

    2009-01-01

    Hypertrophic cardiomyopathy (HCM) is a common hereditary heart disease associated with sudden cardiac death. Predictive genetic counseling and testing are performed using adapted Huntington guidelines, that is, psychosocial care and time for reflection are not obligatory and the test result can be

  19. Assessment of quantitative hypertrophy scores in hypertrophic cardiomyopathy : Magnetic resonance imaging versus echocardiography

    NARCIS (Netherlands)

    Posma, JL; Blanksma, PK; vanderWall, EE; Hamer, HPM; Mooyaart, EL; Lie, KI

    1996-01-01

    To compare the diagnostic value of spin-echo magnetic resonance (MR) imaging and transthoracic echocardiography in quantitative assessment of the extent of hypertrophy in patients with hypertrophic cardiomyopathy (HCM), we examined 52 consecutive patients with HCM. The Spirito-Maron and Wigle

  20. Regression of outflow tract obstruction subsequent to treatment with verapamil in hypertrophic obstructive cardiomyopathy

    DEFF Research Database (Denmark)

    Frandsen, F; Mickley, H

    1990-01-01

    A 29-year-old man suffering from hypertrophic obstructive cardiomyopathy was treated with verapamil 240 mg daily for 4.5 years. During this period the symptoms were reduced, and an intraventricular gradient diminished from 80 to 20 mm Hg, possibly due to a decrease in left ventricular ejection...

  1. Long-term clinical outcome after alcohol septal ablation for obstructive hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Veselka, Josef; Jensen, Morten Kvistholm; Liebregts, Max

    2016-01-01

    AIMS: The first cases of alcohol septal ablation (ASA) for obstructive hypertrophic cardiomyopathy (HCM) were published two decades ago. Although the outcomes of single-centre and national ASA registries have been published, the long-term survival and clinical outcome of the procedure are still...

  2. Cardiac troponin I degradation in serum of patients with hypertrophic obstructive cardiomyopathy undergoing percutaneous septal ablation

    DEFF Research Database (Denmark)

    Madsen, Lene H; Lund, Terje; Grieg, Zanina

    2009-01-01

    : percutaneous transluminal septal myocardial ablation (PTSMA) of hypertrophic obstructive cardiomyopathy (HOCM). Here the iatrogenic induction of myocardial necrosis occurs in vivo, allowing us to investigate degradation of cTnI by the second. METHODS: Blood samples were obtained from 8 patients with HOCM just...

  3. Hypertrophic cardiomyopathy. Evaluation by gated cardiac blood pool scanning. [/sup 99m/Tc tracer technique

    Energy Technology Data Exchange (ETDEWEB)

    Pohost, G.M.; Vignola, P.A.; McKusick, K.E.; Block, P.C.; Myers, G.S.; Walker, H.J.; Copen, D.L.; Dinsmore, T.E.

    1977-01-01

    The gated radionuclide cardiac blood pool scan (GCS) can be used to visualize the entire profile of the interventricular septum and left ventricular contraction. Twenty-two patients with hypertrophic cardiomyopathy, nine with valvular aortic stenosis and six normals, underwent echocardiography and GCS. All patients with hypertrophic cardiomyopathy had asymmetric septal hypertrophy and 14 of 22 had resting systolic anterior motion of the anterior leaflet of the mitral valve on echocardiogram. In eight patients with aortic stenosis with adequate echocardiograms, two had asymmetric septal hypertrophy and none had systolic anterior motion. The GCS demonstrated disproportionate upper septal thickening in 11; septal flattening in 16; cavity obliteration in 17; and a filling defect in the region of the left ventricular outflow tract in 16 of the 22 patients with hypertrophic cardiomyopathy. In the nine patients with valvular aortic stenosis, two demonstrated septal flattening, two cavity obliteration, two an outflow tract defect, and none disproportionate upper septal thickening. Both patients with cavity obliteration demonstrated asymmetric septal hypertrophy on echocardiogram. One normal control patient had septal flattening. Thus the gated cardiac blood pool scan provides an atraumatic technique for the evaluation of patients with hypertrophic cardiomyopathy which complements the echocardiogram.

  4. Systolic anterior motion of the tricuspid valve in a patient with hypertrophic obstructive cardiomyopathy

    NARCIS (Netherlands)

    Farag, Emile S.; Planken, R. Nils; Boekholdt, S. Matthijs; Kluin, Jolanda

    2017-01-01

    Hypertrophic cardiomyopathy is a heterogeneous myocardial disease and is characterized by increased left ventricular wall thickness. Left ventricular outflow tract obstruction occurs in up to 70% of patients and is often caused by systolic anterior motion of the mitral valve, a paradoxical

  5. Initial results of combined anterior mitral leaflet extension and myectomy in patients with obstructive hypertrophic cardiomyopathy

    NARCIS (Netherlands)

    M.J.M. Kofflard (Marcel); L.A. van Herwerden (Lex); D.J. Waldstein; P.N. Ruygrok (Peter); H. Boersma (Eric); M.A. Taams (Meindert); F.J. ten Cate (Folkert)

    1996-01-01

    textabstractObjectives. The purpose of this study was to describe the clinical and functional results of combined anterior mitral leaflet extension and myectomy in patients with hypertrophic obstructive cardiomyopathy. Background. Septal myectomy is the most commonly performed surgical procedure in

  6. Three patients presenting with severe macrosomia and congenital hypertrophic cardiomyopathy: a case series.

    Science.gov (United States)

    Vincent, Marie; Benbrik, Nadir; Romefort, Bénédicte; Colombel, Agnès; Bézieau, Stéphane; Isidor, Bertrand

    2017-03-24

    Macrosomia and hypertrophic cardiomyopathy are two features often associated in neonates of diabetic mothers. We report the cases of three patients with severe macrosomia and critical hypertrophic cardiomyopathy without severely unbalanced maternal diabetes. Only three patients with those two features and no uncontrolled maternal diabetes have been previously reported. The first patient was a 39-week-old girl, the second patient was a 39-week-old girl, and the third patient was a 41-week-old boy. The two French girls and the French boy had severe macrosomia and hypertrophic cardiomyopathy, leading to the death of the boy. The outcome of the two girls was favorable, with a standardization of growth curves and ventricular hypertrophy. Their mothers presented with high body mass index but no severe documented maternal diabetes; glycemic imbalance was only suspected on postnatal analyses. There was no hydramnios during pregnancy and no other environmental factor, especially toxic exposure. Their parents are from Mayotte, Guadeloupe, and Guinea-Conakry. The usual genetics causes, Beckwith-Wiedemann syndrome, and chromosomal copy number variation, were also excluded. This report suggests the implication of other factors in addition to glycemic disorders, including genetic factors, in the occurrence of macrosomia and severe hypertrophic cardiomyopathy in neonates. These three original observations indicate that gynecologists and neonatologists should pay attention to neonates from mothers with a high body mass index and when maternal diabetes is not documented.

  7. Electrocardiographic features of sarcomere mutation carriers with and without clinically overt hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Lakdawala, Neal K; Thune, Jens Jakob; Maron, Barry J

    2011-01-01

    In hypertrophic cardiomyopathy (HC), electrocardiographic (ECG) changes have been postulated to be an early marker of disease, detectable in sarcomere mutation carriers when left ventricular (LV) wall thickness is still normal. However, the ECG features of mutation carriers have not been fully...

  8. Relationship between Regional Fat Distribution and Hypertrophic Cardiomyopathy Phenotype.

    Directory of Open Access Journals (Sweden)

    Valeria Guglielmi

    Full Text Available Hypertrophic cardiomyopathy (HCM, the most common genetic heart disease, is characterized by heterogeneous phenotypic expression. Body mass index has been associated with LV mass and heart failure symptoms in HCM. The aim of our study was to investigate whether regional (trunk, appendicular, epicardial fat distribution and extent could be related to hypertrophy severity and pattern in HCM.Cardiovascular magnetic resonance was performed in 32 subjects with echocardiography-based diagnosis of HCM (22M/10F, 57.2±12.6 years characterized by predominant hypertrophy at the interventricular septum (IVS. Regional fat distribution was assessed by dual-energy X-ray absorptiometry.Gender differences were detected in maximum IVS thickness (M: 18.3±3.8 mm vs. F: 14.3±4 mm, p = 0.012, right ventricle (RV systolic function (M: 61.3±6.7%; F: 67.5±6.3%, p = 0.048, indexed RV end-diastolic (M: 64.8±16.3 ml/m2; F: 50.7±15.5 ml/m2, p = 0.04 and end-systolic volumes (M: 24.3±8.3 ml/m2; F: 16.7±7.4 ml/m2, p = 0.04. After adjusting for age and gender, maximum IVS thickness was associated with truncal fat (Tr-FAT (β = 0.43, p = 0.02, but not with either appendicular or epicardial fat. Epicardial fat resulted independently associated with NT-proBNP levels (β = 0.63, p = 0.04. Late Gadolinium Enhancement-positive subjects displayed greater maximum IVS thickness (p = 0.02, LV mass index (p = 0.015 and NT-proBNP levels (p = 0.04, but no associations with fat amount or distribution were observed.Truncal, but not appendicular or epicardial fat amount, seems to be related with maximum IVS thickness, the hallmark feature in our cohort of HCM patients. Further prospective researches are needed to assess a potential causative effect of central adiposity on HCM phenotype.

  9. Nebivolol Desensitizes Myofilaments of a Hypertrophic Cardiomyopathy Mouse Model

    Directory of Open Access Journals (Sweden)

    Sabrina Stücker

    2017-08-01

    Full Text Available Background: Hypertrophic cardiomyopathy (HCM patients often present with diastolic dysfunction and a normal to supranormal systolic function. To counteract this hypercontractility, guideline therapies advocate treatment with beta-adrenoceptor and Ca2+ channel blockers. One well established pathomechanism for the hypercontractile phenotype frequently observed in HCM patients and several HCM mouse models is an increased myofilament Ca2+ sensitivity. Nebivolol, a commonly used beta-adrenoceptor antagonist, has been reported to lower maximal force development and myofilament Ca2+ sensitivity in rabbit and human heart tissues. The aim of this study was to evaluate the effect of nebivolol in cardiac muscle strips of an established HCM Mybpc3 mouse model. Furthermore, we investigated actions of nebivolol and epigallocatechin-gallate, which has been shown to desensitize myofilaments for Ca2+ in mouse and human HCM models, in cardiac strips of HCM patients with a mutation in the most frequently mutated HCM gene MYBPC3.Methods and Results: Nebivolol effects were tested on contractile parameters and force-Ca2+ relationship of skinned ventricular muscle strips isolated from Mybpc3-targeted knock-in (KI, wild-type (WT mice and cardiac strips of three HCM patients with MYBPC3 mutations. At baseline, KI strips showed no difference in maximal force development compared to WT mouse heart strips. Neither 1 nor 10 μM nebivolol had an effect on maximal force development in both genotypes. 10 μM nebivolol induced myofilament Ca2+ desensitization in WT strips and to a greater extent in KI strips. Neither 1 nor 10 μM nebivolol had an effect on Ca2+ sensitivity in cardiac muscle strips of three HCM patients with MYBPC3 mutations, whereas epigallocatechin-gallate induced a right shift in the force-Ca2+ curve.Conclusion: Nebivolol induced a myofilament Ca2+ desensitization in both WT and KI strips, which was more pronounced in KI muscle strips. In human cardiac muscle

  10. Determinants of myocardial energetics and efficiency in symptomatic hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Timmer, Stefan A.J.; Germans, Tjeerd; Goette, Marco J.W.; Ruessel, Iris K.; Dijkmans, Pieter A.; Knaapen, Paul; Rossum, Albert C. van [VU University Medical Center, Department of Cardiology, 5F, Amsterdam (Netherlands); Lubberink, Mark; Lammertsma, Adriaan A. [VU University Medical Center, Department of Nuclear Medicine and PET Research, Amsterdam (Netherlands); Berg, Jurrien M. ten [St. Antonius Hospital, Department of Cardiology, Nieuwegein (Netherlands); Cate, Folkert J. ten [Thoraxcenter Erasmus Medical Center, Department of Cardiology, Rotterdam (Netherlands)

    2010-04-15

    Next to hypertrophy, hypertrophic cardiomyopathy (HCM) is characterized by alterations in myocardial energetics. A small number of studies have shown that myocardial external efficiency (MEE), defined by external work (EW) in relation to myocardial oxidative metabolism (MVO{sub 2}), is reduced. The present study was conducted to identify determinants of MEE in patients with HCM by use of dynamic positron emission tomography (PET) and cardiovascular magnetic resonance imaging (CMR). Twenty patients with HCM (12 men, mean age: 55.2 {+-} 13.9 years) and 11 healthy controls (7 men, mean age: 48.1 {+-} 10 years) were studied with [{sup 11}C]acetate PET to assess MVO{sub 2}. CMR was performed to determine left ventricular (LV) volumes and mass (LVM). Univariate and multivariate analyses were employed to determine independent predictors of myocardial efficiency. Between study groups, MVO{sub 2} (controls: 0.12 {+-} 0.04 ml.min{sup -1}.g{sup -1}, HCM: 0.13 {+-} 0.05 ml.min{sup -1}.g{sup -1}, p = 0.64) and EW (controls: 9,139 {+-} 2,484 mmHg.ml, HCM: 9,368 {+-} 2,907 mmHg.ml, p = 0.83) were comparable, whereas LVM was significantly higher (controls: 99 {+-} 21 g, HCM: 200 {+-} 76 g, p < 0.001) and MEE was decreased in HCM patients (controls: 35 {+-} 8%, HCM: 21 {+-} 10%, p < 0.001). MEE was related to stroke volume (SV), LV outflow tract gradient, NH{sub 2}-terminal pro-brain natriuretic peptide (NT-proBNP) and serum free fatty acid levels (all p < 0.05). Multivariate analysis revealed that SV (ss = 0.74, p < 0.001) and LVM (ss = -0.43, p = 0.013) were independently related to MEE. HCM is characterized by unaltered MVO{sub 2}, impaired EW generation per gram of myocardial tissue and subsequent deteriorated myocardial efficiency. Mechanical external efficiency could independently be predicted by SV and LVM. (orig.)

  11. Contemporary Natural History and Management of Nonobstructive Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Maron, Martin S; Rowin, Ethan J; Olivotto, Iacopo; Casey, Susan A; Arretini, Anna; Tomberli, Benedetta; Garberich, Ross F; Link, Mark S; Chan, Raymond H M; Lesser, John R; Maron, Barry J

    2016-03-29

    Left ventricular outflow tract gradients are absent in an important proportion of patients with hypertrophic cardiomyopathy (HCM). However, the natural course of this important patient subgroup remains largely unresolved. The authors systematically employed exercise (stress) echocardiography to define those patients without obstruction to left ventricular outflow at rest and/or under physiological exercise and to examine their natural history and clinical course to create a more robust understanding of this complex disease. We prospectively studied 573 consecutive HCM patients in 3 centers (44 ± 17 years; 66% male) with New York Heart Association functional class I/II symptoms at study entry, including 249 in whom left ventricular outflow tract obstruction was absent both at rest and following physiological exercise (<30 mm Hg; nonobstructive HCM) and retrospectively assembled clinical follow-up data. Over a median follow-up of 6.5 years, 225 of 249 nonobstructive patients (90%) remained in classes I/II, whereas 24 (10%) developed progressive heart failure to New York Heart Association functional classes III/IV. Nonobstructive HCM patients were less likely to experience advanced limiting class III/IV symptoms than the 324 patients with outflow obstruction (1.6%/year vs. 7.4%/year rest obstruction vs. 3.2%/year provocable obstruction; p < 0.001). However, 7 nonobstructive patients (2.8%) did require heart transplantation for progression to end stage versus none of the obstructive patients. HCM-related mortality among nonobstructive patients was low (n = 8; 0.5%/year), with 5- and 10-year survival rates of 99% and 97%, respectively, which is not different from expected all-cause mortality in an age- and sex-matched U.S. population (p = 0.15). HCM patients with nonobstructive disease appear to experience a relatively benign clinical course, associated with a low risk for advanced heart failure symptoms, other disease complications, and HCM-related mortality, and

  12. Left Atrial Mechanical Function and Global Strain in Hypertrophic Cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    Kyung-Jin Kim

    Full Text Available Atrial fibrillation is the most common arrhythmia and is associated with adverse outcomes in hypertrophic cardiomyopathy (HCM. Although left atrial (LA remodeling and dysfunction are known to associate with the development of atrial fibrillation in HCM, the changes of the LA in HCM patients remain unclear. This study aimed to evaluate the changes in LA size and mechanical function in HCM patients compared to control subjects and to determine the characteristics of HCM associated with LA remodeling and dysfunction.Seventy-nine HCM patients (mean age, 54 ± 11 years; 76% were men were compared to 79 age- and sex-matched controls (mean age, 54 ± 11 years; 76% were men and 20 young healthy controls (mean age, 33 ± 5 years; 45% were men. The LA diameter, volume, and mechanical function, including global strain (ε, were evaluated by 2D-speckle tracking echocardiography. The phenotype of HCM, maximal left ventricular (LV wall thickness, LV mass, and presence and extent of late gadolinium enhancement (LGE were evaluated with cardiac magnetic resonance imaging.HCM patients showed increased LA volume index, impaired reservoir function, and decreased LA ε compared to the control subjects. When we divided the HCM group according to a maximal LA volume index (LAVImax of 38.7 ml/m2 or LA ε of 21%, no significant differences in the HCM phenotype and maximal LV wall thickness were observed for patients with LAVImax >38.7 ml/m2 or LA ε ≤21%. Conversely, the LV mass index was significantly higher both in patients with maximal LA volume index >38.7 ml/m2 and with LA ε ≤21% and was independently associated with LAVImax and LA ε. Although the LGE extent was increased in patients with LA ε ≤21%, it was not independently associated with either LAVImax or LA ε.HCM patients showed progressed LA remodeling and dysfunction; the determinant of LA remodeling and dysfunction was LV mass index rather than LV myocardial fibrosis by LGE-magnetic resonance

  13. Hypertrophic Obstructive Cardiomyopathy Masked by Tako-Tsubo Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Y. Daralammori

    2012-01-01

    Full Text Available Introduction. Left ventricular outflow obstruction might be part of the pathophysiological mechanism of Tako-tsubo cardiomyopathy. This obstruction can be masked by Tako-tsubo cardiomyopathy and diagnosed only by followup. Case Presentation. A 70-year-old female presented with Tako-tsubo cardiomyopathy and masked obstructive hypertrophic cardiomyopathy at presentation. Conclusion. Tako-tsubo cardiomyopathy typically presents like an acute MI and is characterized by severe, but transient, regional left ventricular systolic dysfunction. Prompt evaluation of the coronary status is, therefore, mandatory. The prognosis under medical treatment of heart failure symptoms and watchful waiting is favourable. Previous studies showed that LVOT obstruction might be part of the pathophysiological mechanism of TCM. This paper supports this theory. However, TCM may also mask any preexisting LVOT obstruction.

  14. Changes in gadolinium-DTPA enhanced magnetic resonance signal intensity ratio in hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Tsukihashi, Hironori; Ishibashi, Yutaka; Shimada, Toshio; Hatano, Jun; Tanabe, Kazuaki; Ooyake, Nobuyuki; Morioka, Shigefumi; Moriyama, Katsutoshi (Shimane Medical Univ., Izumo (Japan))

    Serial gadolinium-diethylene-triamine-pentaacetic acid (Gd-DTPA) enhanced magnetic resonance (MR) signal intensity ratios were measured in 6 normal subjects and 20 hypertrophic cardiomyopathy (HCM) patients to try to differentiate normal from disorganized myocardial tissue. Images were obtained at 10-minute intervals 5-60 minutes after Gd-DTPA (0.1 mmol/kg) injection. The signal intensity ratio (myocardial signal intensity/skeletal muscle signal intensity) was measured at both hypertrophic and non-hypertrophic regions in each image at the apex and mid-ventricular levels. The signal intensity ratio was standardized to compare each case. Hypertrophic myocardium was classified into two types. Type I in 11 of 20 patients was visualized as a homogeneous image, while type II in the other 9 patients was revealed as a mixed isointensity and high intensity area. The peak value of the standardized signal intensity ratio at the apex level was 1.28[+-]0.09 in HCM patients and 1.23[+-]0.06 in normal subjects, and at the mid ventricular level was 1.26[+-]0.07 in hypertrophic regions, 1.17[+-]0.12 in non-hypertrophic regions, and 1.16[+-]0.07 in normal subjects. Thirty minutes after Gd injection, the standardized signal intensity ratio at the apex level was 1.21[+-]0.08 in HCM patients and 1.07[+-]0.08 in normal subjects, and those at the mid ventricular level was 1.20[+-]0.09 in hypertrophic regions, 1.11[+-]0.11 in non-hypertrophic regions, and 1.04[+-]0.06 in normal subjects. The delayed decay of the signal intensity ratio and high signal intensity ratio in Gd-DTPA enhanced MR images are useful in myocardial tissue characterization in hypertrophic cardiomyopathy. (author).

  15. A new 4D trajectory-based approach unveils abnormal LV revolution dynamics in hypertrophic cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    Andrea Madeo

    Full Text Available The assessment of left ventricular shape changes during cardiac revolution may be a new step in clinical cardiology to ease early diagnosis and treatment. To quantify these changes, only point registration was adopted and neither Generalized Procrustes Analysis nor Principal Component Analysis were applied as we did previously to study a group of healthy subjects. Here, we extend to patients affected by hypertrophic cardiomyopathy the original approach and preliminarily include genotype positive/phenotype negative individuals to explore the potential that incumbent pathology might also be detected. Using 3D Speckle Tracking Echocardiography, we recorded left ventricular shape of 48 healthy subjects, 24 patients affected by hypertrophic cardiomyopathy and 3 genotype positive/phenotype negative individuals. We then applied Generalized Procrustes Analysis and Principal Component Analysis and inter-individual differences were cleaned by Parallel Transport performed on the tangent space, along the horizontal geodesic, between the per-subject consensuses and the grand mean. Endocardial and epicardial layers were evaluated separately, different from many ecocardiographic applications. Under a common Principal Component Analysis, we then evaluated left ventricle morphological changes (at both layers explained by first Principal Component scores. Trajectories' shape and orientation were investigated and contrasted. Logistic regression and Receiver Operating Characteristic curves were used to compare these morphometric indicators with traditional 3D Speckle Tracking Echocardiography global parameters. Geometric morphometrics indicators performed better than 3D Speckle Tracking Echocardiography global parameters in recognizing pathology both in systole and diastole. Genotype positive/phenotype negative individuals clustered with patients affected by hypertrophic cardiomyopathy during diastole, suggesting that incumbent pathology may indeed be foreseen by

  16. A new 4D trajectory-based approach unveils abnormal LV revolution dynamics in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Madeo, Andrea; Piras, Paolo; Re, Federica; Gabriele, Stefano; Nardinocchi, Paola; Teresi, Luciano; Torromeo, Concetta; Chialastri, Claudia; Schiariti, Michele; Giura, Geltrude; Evangelista, Antonietta; Dominici, Tania; Varano, Valerio; Zachara, Elisabetta; Puddu, Paolo Emilio

    2015-01-01

    The assessment of left ventricular shape changes during cardiac revolution may be a new step in clinical cardiology to ease early diagnosis and treatment. To quantify these changes, only point registration was adopted and neither Generalized Procrustes Analysis nor Principal Component Analysis were applied as we did previously to study a group of healthy subjects. Here, we extend to patients affected by hypertrophic cardiomyopathy the original approach and preliminarily include genotype positive/phenotype negative individuals to explore the potential that incumbent pathology might also be detected. Using 3D Speckle Tracking Echocardiography, we recorded left ventricular shape of 48 healthy subjects, 24 patients affected by hypertrophic cardiomyopathy and 3 genotype positive/phenotype negative individuals. We then applied Generalized Procrustes Analysis and Principal Component Analysis and inter-individual differences were cleaned by Parallel Transport performed on the tangent space, along the horizontal geodesic, between the per-subject consensuses and the grand mean. Endocardial and epicardial layers were evaluated separately, different from many ecocardiographic applications. Under a common Principal Component Analysis, we then evaluated left ventricle morphological changes (at both layers) explained by first Principal Component scores. Trajectories' shape and orientation were investigated and contrasted. Logistic regression and Receiver Operating Characteristic curves were used to compare these morphometric indicators with traditional 3D Speckle Tracking Echocardiography global parameters. Geometric morphometrics indicators performed better than 3D Speckle Tracking Echocardiography global parameters in recognizing pathology both in systole and diastole. Genotype positive/phenotype negative individuals clustered with patients affected by hypertrophic cardiomyopathy during diastole, suggesting that incumbent pathology may indeed be foreseen by these methods. Left

  17. Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy.

    Science.gov (United States)

    Valente, Anne Marie; Lakdawala, Neal K; Powell, Andrew J; Evans, Sarah P; Cirino, Allison L; Orav, E John; MacRae, Calum A; Colan, Steven D; Ho, Carolyn Y

    2013-06-01

    Left ventricular hypertrophy (LVH) typically manifests during or after adolescence in sarcomere mutation carriers at risk for developing hypertrophic cardiomyopathy. Guidelines recommend serial imaging of mutation carriers without LVH (G+/LVH-) to monitor for phenotypic evolution, but the optimal strategy is undefined. Compared with echocardiography (echo), cardiac MRI (CMR) offers improved endocardial visualization and potential to assess scar. However, the incremental advantage offered by CMR for early diagnosis of hypertrophic cardiomyopathy is unclear. Therefore, we systematically compared echo and CMR in G+/LVH- subjects. A total of 40 sarcomere mutation carriers with normal echo wall thickness (hypertrophic cardiomyopathy, including 1 with mild LVH by CMR at baseline. Echo is unlikely to miss substantial LVH; however, CMR identified mild hypertrophy in ≈10% of mutation carriers with normal echo wall thickness. CMR may be a useful adjunct in hypertrophic cardiomyopathy family screening, particularly in higher risk situations, or if echocardiographic images are suboptimal or suggest borderline LVH.

  18. Comparison of Valsalva manoeuvre and exercise in echocardiographic evaluation of left ventricular outflow tract obstruction in hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Jensen, Morten Krogh; Havndrup, Ole; Pecini, Redi

    2010-01-01

    Several methods are used to induce latent left ventricular outflow tract (LVOT) gradients in patients with hypertrophic cardiomyopathy (HCM). We compared LVOT gradients induced by Valsalva manoeuvre (VM) and exercise echocardiography (EE) in patients with HCM treated with percutaneous transluminal...

  19. Morphological and Tissue Alterations in one Papillary Muscle: an Early Sign of Hypertrophic Cardiomyopathy?

    Directory of Open Access Journals (Sweden)

    Alberto Cresti

    2016-12-01

    Full Text Available Isolated Papillary Muscle (PM hypertrophy has been supposed to be a phenotypic variant of hypertrophic cardiomyopathy. Whether this finding may explain an electrocardiographic pattern of left ventricular hypertrophy has to be demonstrated. A cardiac magnetic resonance imaging may add additional crucial information. Our case was a 26-year-old asymptomatic male cyclist who underwent routine sport medicine screening. His cousin had suddenly died during a bicycle race at 40 years of age, and autopsy had revealed a hypertrophic cardiomyopathy. Screening revealed an electrocardiographic pattern of left ventricular hypertrophy. A multimodal imaging examination was also performed and the only abnormal finding was a hypertrophic anterolateral PM and cardiac magnetic resonance imaging showed fibrotic substitution of its head. An otherwise unexplained electrocardiographic pattern of left ventricular hypertrophy can be justified by an isolated PM hypertrophy. Cardiac magnetic resonance imaging is crucial for precise ventricular wall and papillary thickness measurement. In the presence of an isolated PM hypertrophy, postgadolinium T1 mapping can demonstrate the presence of abnormal tissue and probably fibrosis of the papillary head, which can confirm the presence of a strictly localized form of hypertrophic cardiomyopathy.

  20. The follow-up of progressive hypertrophic cardiomyopathy using magnetic resonance rotating frame relaxation times.

    Science.gov (United States)

    Khan, Muhammad Arsalan; Laakso, Hanne; Laidinen, Svetlana; Kettunen, Sanna; Heikura, Tommi; Ylä-Herttuala, Seppo; Liimatainen, Timo

    2018-02-01

    Magnetic resonance rotating frame relaxation times are an alternative non-contrast agent choice for the diagnosis of chronic myocardial infarct. Fibrosis typically occurs in progressive hypertrophic cardiomyopathy. Fibrosis has been imaged in myocardial infarcted tissue using rotating frame relaxation times, which provides the possibility to follow up progressive cardiomyopathy without contrast agents. Mild and severe left ventricular hypertrophy were induced in mice by transverse aortic constriction, and the longitudinal rotating frame relaxation times (T 1ρ ) and relaxation along the fictitious field (T RAFF2 , T RAFF3 ) were measured at 5, 10, 24, 62 and 89 days after transverse aortic constriction in vivo. Myocardial fibrosis was verified using Masson's trichrome staining. Increases in the relative relaxation time differences of T 1ρ , together with T RAFF2 and T RAFF3 , between fibrotic and remote tissues over time were observed. Furthermore, T RAFF2 and T RAFF3 showed higher relaxation times overall in fibrotic tissue than T 1ρ . Relaxation time differences were highly correlated with an excess of histologically verified fibrosis. We found that T RAFF2 and T RAFF3 are more sensitive than T 1ρ to hypertrophic cardiomyopathy-related tissue changes and can serve as non-invasive diagnostic magnetic resonance imaging markers to follow up the mouse model of progressive hypertrophic cardiomyopathy. Copyright © 2017 John Wiley & Sons, Ltd.

  1. Myocardial glucose metabolism in patients with hypertrophic cardiomyopathy; [sup 18]F-FDG PET study

    Energy Technology Data Exchange (ETDEWEB)

    Uehara, Toshiisa; Nishimura, Tsunehiko; Kozuka, Takahiro (Osaka Univ. (Japan). Faculty of Medicine); Ishida, Yoshio; Shimonagata, Tsuyoshi; Nagata, Seiki; Miyatake, Kunio; Tokuda, Takahiro

    1994-01-01

    To find a clue to elucidate pathophysiology of hypertrophic cardiomyopathy (HCM), myocardial glucose metabolism was investigated by using positron computed tomography (PET) with F-18-fluorodeoxyglucose (F-18 FDG) in 28 HCM patients and 9 hypetensive (H) patients. The degree of F-18 FDG uptake in the myocardium was quantitatively determined by %dose uptake per myocardium of 30 g. A group of H patients had almost normal pattern; i.e., fasting F-18 FDG uptake was low (0.13[+-]0.07%/myocardium of 30 g) and was remarkably increased on glucose loading (0.30[+-]0.14%). In all HCM patients but 4 of apical type (AT), however, fasting F-18 FDG uptake was remarkably high (0.20[+-]0.08% for 12 patients with asymmetrical septal hypertrophy (ASH), 0.17[+-]0.07% for 6 of diffuse type (DT) and 0.20[+-]0.07% for 6 of dilated phase (DP)). Decreased uptake of F-18 FDG was seen on glucose loading for DP (0.19[+-]0.08%) and AT (0.17[+-]0.11%), although it was almost normal for ASH (0.33[+-]0.15%). According to regional myocardium, fasting F-18 FDG uptake was decreased in the entire myocardium in all HCM patients but those of AT. F-18 FDG was decreased on glucose loading in bokth DT and DP patients, suggesting the presence of myocardial disturbance. In conclusion, HCM patients were characterized by having increased uptake of F-18 FDG on fasting. This has an important implication for the understanding of its pathophysiology and diagnosis of hyertrophic myocardium. (N.K.).

  2. Ablation of hypertrophic septum using radiofrequency energy: an alternative for gradient reduction in patient with hypertrophic obstructive cardiomyopathy?

    Science.gov (United States)

    Riedlbauchová, Lucie; Janoušek, Jan; Veselka, Josef

    2013-06-01

    Alcohol septal ablation and surgical myectomy represent accepted therapeutic options for treatment of symptomatic patients with hypertrophic obstructive cardiomyopathy. Long-term experience with radiofrequency ablation of arrhythmogenic substrates raised a question if this technique might be effective for left ventricular outflow tract (LVOT) gradient reduction. We report on a 63-year-old patient with recurrence of symptoms 1 year after alcohol septal ablation (ASA) leading originally to a significant reduction of both symptoms and gradient. Due to a new increase of gradient in the LVOT up to 200 mm Hg with corresponding worsening of symptoms and due to refusal of surgical myectomy by the patient, endocardial radiofrequency ablation of the septal hypertrophy (ERASH) was indicated. Radiofrequency ablation was performed in the LVOT using irrigated-tip ablation catheter; the target site was identified using intracardiac echocardiography and electroanatomical CARTO mapping. ERASH caused an immediate gradient reduction due to hypokinesis of the ablated septum. At 2-month follow-up exam, significant clinical improvement was observed, together with persistent gradient reduction assessed with Doppler echocardiography. Echocardiography and magnetic resonance revealed persistent septal hypokinesis and slight thinning of the ablated region. Septal ablation using radiofrequency energy may be a promising alternative or adjunct to the treatment of hypertrophic obstructive cardiomyopathy. Intracardiac echocardiography and electroanatomical CARTO mapping enable exact lesion placement and preservation of atrioventricular conduction.

  3. Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics

    NARCIS (Netherlands)

    Mook, Olaf R. F.; Haagmans, Martin A.; Soucy, Jean-François; van de Meerakker, Judith B. A.; Baas, Frank; Jakobs, Marja E.; Hofman, Nynke; Christiaans, Imke; Lekanne Deprez, Ronald H.; Mannens, Marcel M. A. M.

    2013-01-01

    Genetic evaluation of cardiomyopathies poses a challenge. Multiple genes are involved but no clear genotype-phenotype correlations have been found so far. In the past, genetic evaluation for hypertrophic (HCM) and dilated (DCM) cardiomyopathies was performed by sequential screening of a very limited

  4. Hypertrophic Cardiomyopathy (HCM): How Flow Analysis May Drive Medical Management and Surgical Approach

    Science.gov (United States)

    Abraham, Theodore P.

    2011-11-01

    Hypertrophic Cardiomyopathy (HCM) is the most common inherited heart disease and occurs in 1 in 500 persons worldwide regardless of race, age and gender. It is the most common cause of sudden death in the young and also causes heart failure and cardiac arrhythmias. The primary anatomic abnormality is thickening of certain walls, or sometimes global thickening of the left or right ventricle. The patterns of thickening along with increased ventricular stiffness lead to suboptimal ventricular filling and inefficient ejection of blood from the ventricle. Treatment for HCM can be medical or surgical. The choice of therapy is driven by the presence and severity of outflow obstruction. Flow analysis could provide sophisticated information about outflow and inflow ventricular dynamics. These flow dynamics features may enable better medical choices and provide information that would allow superior surgical planning. Associate Professor of Medicine & Director, Hypertrophic Cardiomyopathy Clinic

  5. Influence of Septal Thickness on the Clinical Outcome After Alcohol Septal Alation in Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Jensen, Morten K; Jacobsson, Linda; Almaas, Vibeke; van Buuren, Frank; Hansen, Peter R; Hansen, Thomas F; Aakhus, Svend; Eriksson, Maria J; Bundgaard, Henning; Faber, Lothar

    2016-06-01

    We assessed the influence of interventricular septal thickness (IVSd) on the clinical outcome and survival after alcohol septal ablation (ASA) in patient with hypertrophic cardiomyopathy. We analyzed 531 patients with hypertrophic cardiomyopathy (age: 56±14 years, men 55%) treated with ASA. Survival status was obtained 7.9±4.0 years after ASA. Baseline IVSd was inversely associated with survival (hazard ratio [HR] for 1 mm increment, 1.13; confidence interval, 1.05-1.21; Psymptoms throughout the spectrum of septal hypertrophy. Severe septal hypertrophy before ASA remained a marker of reduced survival after ASA with a 5-fold increased risk of all-cause mortality in patients with baseline IVSd >25 mm compared with patients with baseline IVSd <20 mm. © 2016 American Heart Association, Inc.

  6. Left Atrial trajectory impairment in Hypertrophic Cardiomyopathy disclosed by Geometric Morphometrics and Parallel Transport

    Science.gov (United States)

    Piras, Paolo; Torromeo, Concetta; Re, Federica; Evangelista, Antonietta; Gabriele, Stefano; Esposito, Giuseppe; Nardinocchi, Paola; Teresi, Luciano; Madeo, Andrea; Chialastri, Claudia; Schiariti, Michele; Varano, Valerio; Uguccioni, Massimo; Puddu, Paolo E.

    2016-10-01

    The analysis of full Left Atrium (LA) deformation and whole LA deformational trajectory in time has been poorly investigated and, to the best of our knowledge, seldom discussed in patients with Hypertrophic Cardiomyopathy. Therefore, we considered 22 patients with Hypertrophic Cardiomyopathy (HCM) and 46 healthy subjects, investigated them by three-dimensional Speckle Tracking Echocardiography, and studied the derived landmark clouds via Geometric Morphometrics with Parallel Transport. Trajectory shape and trajectory size were different in Controls versus HCM and their classification powers had high AUC (Area Under the Receiving Operator Characteristic Curve) and accuracy. The two trajectories were much different at the transition between LA conduit and booster pump functions. Full shape and deformation analyses with trajectory analysis enabled a straightforward perception of pathophysiological consequences of HCM condition on LA functioning. It might be worthwhile to apply these techniques to look for novel pathophysiological approaches that may better define atrio-ventricular interaction.

  7. Hypertrophic Cardiomyopathy Mimicking Acute Anterior Myocardial Infarction Associated with Sudden Cardiac Death

    Directory of Open Access Journals (Sweden)

    Y. Daralammouri

    2012-01-01

    Full Text Available Hypertrophic cardiomyopathy is the most common genetic disease of the heart. We report a rare case of hypertrophic obstructive cardiomyopathy mimicking an acute anterior myocardial infarction associated with sudden cardiac death. The patient presented with acute ST elevation myocardial infarction and significant elevation of cardiac enzymes. Cardiac catheterization showed some atherosclerotic coronary artery disease, without significant stenosis. Echocardiography showed left ventricular hypertrophy with a left ventricular outflow tract obstruction; the pressure gradient at rest was 20 mmHg and became severe with the Valsalva maneuver (100 mmHg. There was no family history of sudden cardiac death. Six days later, the patient suffered a syncope on his way to magnetic resonance imaging. He was successfully resuscitated by ventricular fibrillation.

  8. Distinct ECG Phenotypes Identified in Hypertrophic Cardiomyopathy Using Machine Learning Associate With Arrhythmic Risk Markers

    Directory of Open Access Journals (Sweden)

    Aurore Lyon

    2018-03-01

    Full Text Available Aims: Ventricular arrhythmia triggers sudden cardiac death (SCD in hypertrophic cardiomyopathy (HCM, yet electrophysiological biomarkers are not used for risk stratification. Our aim was to identify distinct HCM phenotypes based on ECG computational analysis, and characterize differences in clinical risk factors and anatomical differences using cardiac magnetic resonance (CMR imaging.Methods: High-fidelity 12-lead Holter ECGs from 85 HCM patients and 38 healthy volunteers were analyzed using mathematical modeling and computational clustering to identify phenotypic subgroups. Clinical features and the extent and distribution of hypertrophy assessed by CMR were evaluated in the subgroups.Results: QRS morphology alone was crucial to identify three HCM phenotypes with very distinct QRS patterns. Group 1 (n = 44 showed normal QRS morphology, Group 2 (n = 19 showed short R and deep S waves in V4, and Group 3 (n = 22 exhibited short R and long S waves in V4-6, and left QRS axis deviation. However, no differences in arrhythmic risk or distribution of hypertrophy were observed between these groups. Including T wave biomarkers in the clustering, four HCM phenotypes were identified: Group 1A (n = 20, with primary repolarization abnormalities showing normal QRS yet inverted T waves, Group 1B (n = 24, with normal QRS morphology and upright T waves, and Group 2 and Group 3 remaining as before, with upright T waves. Group 1A patients, with normal QRS and inverted T wave, showed increased HCM Risk-SCD scores (1A: 4.0%, 1B: 1.8%, 2: 2.1%, 3: 2.5%, p = 0.0001, and a predominance of coexisting septal and apical hypertrophy (p < 0.0001. HCM patients in Groups 2 and 3 exhibited predominantly septal hypertrophy (85 and 90%, respectively.Conclusion: HCM patients were classified in four subgroups with distinct ECG features. Patients with primary T wave inversion not secondary to QRS abnormalities had increased HCM Risk-SCD scores and coexisting septal and apical

  9. Discrepant Measurements of Maximal Left Ventricular Wall Thickness Between Cardiac Magnetic Resonance Imaging and Echocardiography in Patients With Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Hindieh, Waseem; Weissler-Snir, Adaya; Hammer, Helene; Adler, Arnon; Rakowski, Harry; Chan, Raymond H

    2017-08-01

    We sought to compare maximal left ventricular (LV) wall thickness (WT) measurements as obtained by routine clinical practice between echocardiography and cardiac magnetic resonance (CMR) and document causes of discrepancy. One-hundred and ninety-five patients with hypertrophic cardiomyopathy (median age, 52.8±15.1 years) who underwent echocardiography and CMR imaging within 6 months (median, 41 days; interquartile range, 16-97 days) were included. LVWT was assessed in parasternal long and short axis by 2-dimensional echocardiography and in short axis by CMR. By Bland-Altman plot, mean maximal LVWT difference between echocardiography and CMR was 0.5 mm (95% confidence interval, -6.9, 7.8) with equal distribution of discrepancy along the full range of LVWT. Ninety-seven patients (49.7%) were identified to have intermodal measurement discrepancies ≥10%. In 7 patients (7.2%), reported measurement by CMR was inaccurate because of interpretation error. In 90 patients (92.8%), echocardiography underestimated (n=32; 33.0%) or overestimated (n=58; 59.8%) maximal LVWT. Underestimation was because of focal LV hypertrophy (n=10; 10.3%) or poor acoustic windows (n=22; 22.7%) while overestimation resulted from inclusion of right ventricular myocardium (n=37; 38.1%), LV trabeculations (n=5; 5.2%), papillary muscle (n=3; 3.1%), and apical-septal bundle (n=1; 1.0%), as well as imaging plane obliquity (n=7; 12.5%). In 31 (15.9%) patients, measurement discrepancy occurred at diagnostic or prognostic cut-offs. Although maximal LVWT by echocardiography in general measured similar to CMR, discordance because of limitations in echocardiography technique was present in a significant subset of patients. As measurement of LVWT impacts diagnosis and sudden death management, CMR should be considered as part of routine evaluation of all patients with hypertrophic cardiomyopathy. © 2017 American Heart Association, Inc.

  10. Differentiation of infiltrative cardiomyopathy from hypertrophic cardiomyopathy using high-sensitivity cardiac troponin T: a case-control study.

    Science.gov (United States)

    Kubo, Toru; Baba, Yuichi; Hirota, Takayoshi; Tanioka, Katsutoshi; Yamasaki, Naohito; Yamanaka, Shigeo; Iiyama, Tatsuo; Kumagai, Naoko; Furuno, Takashi; Sugiura, Tetsuro; Kitaoka, Hiroaki

    2015-06-16

    Because infiltrative cardiomyopathy and hypertrophic cardiomyopathy (HCM) share clinical and hemodynamic features of left ventricular (LV) hypertrophy and abnormal diastolic function, it is often difficult to distinguish these entities. We investigated the potential role of high-sensitivity cardiac troponin T (hs-cTnT) for differentiation of infiltrative cardiomyopathy from HCM. The study group consisted of 46 consecutive patients with infiltrative cardiomyopathies or HCM in whom sarcomere protein gene mutations were identified at Kochi Medical School Hospital; of these, there were 11 patients with infiltrative cardiomyopathy (cardiac amyloidosis in 8 patients and Fabry disease in 3 patients) and 35 HCM patients. Serum hs-cTnT level was significantly higher in patients who had infiltrative cardiomyopathy than in those who had HCM (0.083 ± 0.057 ng/ml versus 0.027 ± 0.034 ng/ml, p  40 years at age), hs-cTnT level, maximum LV wall thickness, posterior wall thickness, peak early (E) transmitral filling velocity, peak early diastolic (Ea) velocity of tissue Doppler imaging at the lateral corner and E/Ea ratios at both the septal and lateral corners were significantly different between the two groups. As for diagnostic accuracy to differentiate the two groups by using receiver operating characteristic analysis, hs-cTnT was the highest value of area under the curve (0.939) and E/Ea (lateral) was second highest value (0.914). Serum hs-cTnT is a helpful diagnostic indicator for accurate differentiation between infiltrative cardiomyopathy and HCM.

  11. Pattern and degree of left ventricular remodeling following a tailored surgical approach for hypertrophic obstructive cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Ismail El-Hamamsy

    2012-07-01

    Full Text Available Background The role of a tailored surgical approach for hypertrophic cardiomyopathy (HCM on regional ventricular remodelling remains unknown. The aims of this study were to evaluate the pattern, extent and functional impact of regional ventricular remodelling after a tailored surgical approach. Conclusion Following a tailored surgical relief of outflow obstruction for HCM, there is a marked regional reverse LV remodelling. These changes could have a significant impact on overall ventricular dynamics and function.

  12. Symptom assessment and exercise impairment in surgical decision making in hypertrophic obstructive cardiomyopathy: Relationship to outcomes.

    Science.gov (United States)

    Desai, Milind Y; Smedira, Nicholas G; Bhonsale, Aditya; Thamilarasan, Maran; Lytle, Bruce W; Lever, Harry M

    2015-10-01

    We sought to assess the long-term outcomes in patients with hypertrophic cardiomyopathy and severe left ventricular outflow tract obstruction, in whom the decision regarding surgery (vs conservative management) was based on assessment of symptoms or exercise capacity. This was an observational study of 1530 patients with hypertrophic cardiomyopathy (aged 50 ± 13 years, 63% were men) with severe left ventricular outflow tract obstruction (excluding those aged hypertrophic cardiomyopathy, and syncope were present in 15%, 17%, and 18% of patients, respectively, whereas 73% patients were in New York Heart Association class II or greater. Mean left ventricular ejection fraction, basal septal thickness, and left ventricular outflow tract gradient (resting or provocable) were 62% ± 5%, 2.2 ± 1 cm, and 101 ± 39 mm Hg, respectively. A total of 858 patients (56%) underwent exercise echocardiography, of whom 503 (59%) had exercise capacity impairment. At 8.1 ± 6 years, 990 patients (65%) underwent surgical relief of left ventricular outflow tract obstruction, and 540 patients (35%) did not. There were 156 events (10%) (134 deaths), with 0% 30-day mortality in the surgical group. On multivariable Cox proportional hazard analysis, increasing age (hazard ratio [HR], 1.20), coronary artery disease (HR, 1.68), worse New York Heart Association class (HR, 1.46), and atrial fibrillation (HR, 1.90) predicted higher events, whereas surgery (time-dependent covariate HR, 0.57) was associated with improved event-free survival (all P hypertrophic cardiomyopathy and severe left ventricular outflow tract obstruction, in whom the decision regarding surgery was based on the presence of intractable symptoms and impaired exercise capacity, surgery was associated with significant improvement in long-term composite outcomes. Copyright © 2015 The American Association for Thoracic Surgery. Published by Elsevier Inc. All rights reserved.

  13. Clinical Spectrum, Therapeutic Options, and Outcome of Advanced Heart Failure in Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Pasqualucci, Daniele; Fornaro, Alessandra; Castelli, Gabriele; Rossi, Alessandra; Arretini, Anna; Chiriatti, Chiara; Targetti, Mattia; Girolami, Francesca; Corda, Marco; Orrù, Pierpaolo; Matta, Gildo; Stefàno, Pierluigi; Cecchi, Franco; Porcu, Maurizio; Olivotto, Iacopo

    2015-11-01

    The clinical course of patients with hypertrophic cardiomyopathy and advanced heart failure (HF) subtended by progressive left ventricular dysfunction has received limited attention. Our aim was to assess the outcome of HF and impact of treatment options including the implantable cardioverter-defibrillator and heart transplantation (HT) in patients with hypertrophic cardiomyopathy evaluated at 2 Italian referral centers >3 decades. All-cause mortality and a combined end point including death, HT, or appropriate implantable cardioverter-defibrillator shock were assessed in 71 consecutive patients with HF not related to outflow obstruction (7% of the entire hypertrophic cardiomyopathy cohort) followed up for 6.1±6.9 years after development of New York Heart Association class III to IV symptoms. At enrollment, left ventricular ejection fraction was 50% in 16; all had restrictive left ventricular filling. During follow-up, 35 patients died (49%%; 5-year rate, 49%) and 53 met the combined end point (75%; 5-year rate, 62%). Most events occurred in the 3 years after HF onset (17% per year compared with only 3% per year subsequently). Appropriate implantable cardioverter-defibrillator shocks occurred in 11 of 34 implanted patients. Of 37 patients evaluated for HT, 14 were transplanted, 10 listed, and 13 excluded; 2 early post-HT deaths occurred in patients with elevated pulmonary vascular resistance. Eleven of the 14 HT patients were alive at 10±8 years. In hypertrophic cardiomyopathy, advanced HF not associated with outflow obstruction portends a severely unfavorable prognosis, particularly in the first 3 years after onset of symptoms, despite frequently preserved systolic function in about one quarter of the patients. Outcome of HT is favorable but requires early consideration, as the window of opportunity may be short. © 2015 American Heart Association, Inc.

  14. A Case Report of Percutaneous Transluminal Septal Myocardial Ablation in Patients with Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    M.H. Namazi

    2004-10-01

    Full Text Available A number of patients with severe obstruction due to hypertrophic cardiomyopathy have derived benefit at least over the short-term from inventional infarction of a portion of the interventricular septum by the infusion of alcohol into a selectively catheterized septal artery , with reduction of the outflow gradient and improvement in symptoms .This paper contains successful TASH on a symptomatic patient with high LVOT gradient and methods and complications.

  15. Papillary thyroid carcinoma treated with radiofrequency ablation in a patient with hypertrophic cardiomyopathy: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Sun, Jian Yi; Liu, Xiao Sun; Zhang, Qing; Hong, Yan Yun; Song, Bin; Teng, Xiao Dong; Yu, Ji Ren [The First Affiliated Hospital, Medical College, Zhejiang University, Hangzhou (China)

    2016-07-15

    Standard therapy has not been established for thyroid cancer when a thyroidectomy is contraindicated due to systemic disease. Herein, we reported a patient who had hypertrophic cardiomyopathy and papillary thyroid carcinoma treated by radiofrequency ablation because of inability to tolerate a thyroidectomy. Radiofrequency ablation can be used to treat thyroid cancer when surgery is not feasible, although the long-term outcome needs further observation.

  16. Papillary Thyroid Carcinoma Treated with Radiofrequency Ablation in a Patient with Hypertrophic Cardiomyopathy: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Sun, Jianyi; Liu, Xiaosun; Zhang, Qing; Hong, Yanyun; Song, Bin [Department of Gastrointestinal and Thyroid Surgery, The First Affiliated Hospital, Medical College, Zhejiang University, Hangzhou 310003 (China); Teng, Xiaodong [Department of Pathology, The First Affiliated Hospital, Medical College, Zhejiang University, Hangzhou 310003 (China); Yu, Jiren [Department of Gastrointestinal and Thyroid Surgery, The First Affiliated Hospital, Medical College, Zhejiang University, Hangzhou 310003 (China)

    2016-11-01

    Standard therapy has not been established for thyroid cancer when a thyroidectomy is contraindicated due to systemic disease. Herein, we reported a patient who had hypertrophic cardiomyopathy and papillary thyroid carcinoma treated by radiofrequency ablation because of inability to tolerate a thyroidectomy. Radiofrequency ablation can be used to treat thyroid cancer when surgery is not feasible, although the long-term outcome needs further observation.

  17. Hypertrophic cardiomyopathy and Wolff-Parkinson-White Syndrome with complete auriculoventricular block. A strange association

    International Nuclear Information System (INIS)

    Vallejo, Franco J; Montana, Paula A; Vesga, Carlos; Miranda Antonio; Citelli Jose E; Negrete Alberto; Gil, Efrain

    2007-01-01

    A 22 years old male patient is admitted for a syncope episode. An electrocardiogram shows a Wolff-Parkinson-White pattern and signs of auricular overload with left ventricular hypertrophy and complete auriculoventricular block. The transthoracic echocardiogram is compatible with non-obstructive hypertrophic cardiomyopathy. An electrophysiological study is carried out, finding pre-excitation through an accessory way and infra-His auriculoventricular block. An ablation is performed and a bicameral pacemaker is implanted

  18. Magnesium status and the effect of magnesium supplementation in feline hypertrophic cardiomyopathy.

    OpenAIRE

    Freeman, L M; Brown, D J; Smith, F W; Rush, J E

    1997-01-01

    Magnesium deficiency has been associated with the development of cardiovascular disease in several species. Cats may be predisposed to alterations in magnesium status because of recent changes in the composition of commercial feline diets. The purposes of this study were 1) to examine the dietary history of cats with hypertrophic cardiomyopathy (HCM), 2) to study magnesium status of cats with HCM compared to normal cats, and 3) to determine the effects of magnesium supplementation in cats wit...

  19. Current management of hypertrophic cardiomyopathy: evidence in pathophysiology, diagnosis and treatment

    International Nuclear Information System (INIS)

    Quesada Mena, Luis Diego

    2013-01-01

    Available literary evidence is reviewed on the current management of hypertrophic cardiomyopathy. The bibliographical search is carried out in physical and online texts, cardiology journals, databases (MEDLINE), original studies, reviews and metaanalysis. Literature in English and Spanish is included from the first descriptions of the disease in the fifties, until the date of the investigation. Clinical management of patients is compared and recommendations published by consensus groups of international associations [es

  20. Study familial hypertrophic cardiomyopathy using patient-specific induced pluripotent stem cells

    OpenAIRE

    Han, Lu; Li, Yang; Tchao, Jason; Kaplan, Aaron D.; Lin, Bo; Li, You; Mich-Basso, Jocelyn; Lis, Agnieszka; Hassan, Narmeen; London, Barry; Bett, Glenna C.L.; Tobita, Kimimasa; Rasmusson, Randall L.; Yang, Lei

    2014-01-01

    Aims Familial hypertrophic cardiomyopathy (HCM) is one the most common heart disorders, with gene mutations in the cardiac sarcomere. Studying HCM with patient-specific induced pluripotent stem-cell (iPSC)-derived cardiomyocytes (CMs) would benefit the understanding of HCM mechanism, as well as the development of personalized therapeutic strategies. Methods and results To investigate the molecular mechanism underlying the abnormal CM functions in HCM, we derived iPSCs from an HCM patient with...

  1. Assessment of chest pain in hypertrophic cardiomyopathy using exercise thallium-201 myocardial scintigraphy

    International Nuclear Information System (INIS)

    Pitcher, D.; Wainwright, R.; Maisey, M.; Curry, P.; Sowton, E.

    1980-01-01

    Exercise thallium-201 myocardial scintigraphy was performed in 23 patients with hypertrophic cardiomyopathy. Eighteen patients presented with chest pain which was a persistent symptom in 11. Selective coronary arteriography was performed in 16 patients and showed normal coronary arteries in 15 and insignificant luminal irregularities in one patient. Eighteen patients had abnormal scintigrams. Three had an abnormal distribution of tracer entirely attributable to asymmetric septal hypertrophy, whereas 15 had discrete tracer uptake defects which could not be explained solely by myocardial hypertrophy. In this latter group of patients three scintigraphic patterns were identified: (1) in 10 patients defects were seen in scintigrams immediately after exercise but not in delayed images obtained four to six hours later. Eight of these patients had chest pain. (2) Four patients had uptake defects seen in both initial and delayed images. One patient had chest pain. (3) In three patients, one of whom had chest pain, tracer defects were seen only in delayed images and were not apparent in the initial scintigrams. Chest pain occurred in eight out of 10 patients with scintigraphic evidence of myocardial ischaemia but was present in only three out of 13 patients with non-ischaemic scintigrams. The value of exercise thallium-201 myocardial imaging as a diagnostic technique in hypertrophic cardiomyopathy appears limited. Scintigraphic evidence of regional myocardial ischaemia in the absence of significant coronary artery disease, however, contributes to an understanding of the mechanism of angina production in patients with hypertrophic cardiomyopathy. (author)

  2. Plasma concentration of fibronectin is decreased in patients with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Fucikova, Alena; Lenco, Juraj; Tambor, Vojtech; Rehulkova, Helena; Pudil, Radek; Stulik, Jiri

    2016-12-01

    To confirm the initial iTRAQ-based proteomic findings related to the plasma fibronectin level and hypertrophic cardiomyopathy using an antibody-based assay. The iTRAQ technique was used for the discovery proteomic analysis of the pooled plasma samples. The ELISA was used for verification of fibronectin plasma concentration in individual samples. Additional five related plasma proteins were assessed: matrix metalloproteinase 2, matrix metalloproteinase 9, tissue inhibitor of metalloproteinase 1, tissue inhibitor of metalloproteinase 2 and brain natriuretic peptide. The plasma fibronectin level in patients with hypertrophic cardiomyopathy was significantly lower in comparison to the healthy subjects [215.5±47.3μg/ml, n=17 vs. 376.7±134.8μg/ml, n=17; p<0.0001]. In this study we present and confirm our initial proteomic findings and we suggest fibronectin as a potential indicator of an extracellular matrix remodeling related to the hypertrophic cardiomyopathy. Copyright © 2016 Elsevier B.V. All rights reserved.

  3. Syncope in the young athlete: Assessment of prognosis in subjects with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Magalhães-Ribeiro, Carlos; Freitas, João

    2016-01-01

    Syncope is a common but concerning event in young athletes. Although mostly due to benign reflex causes, syncope may be arrhythmic and precede sudden cardiac death. Efforts must therefore be made to distinguish post-exertional syncope from syncope during exercise, which can be an ominous sign of a possible underlying heart disease, such as hypertrophic cardiomyopathy. Prevention requires cooperation between physician and athlete, in order to identify individuals at risk and to protect them from sudden death. Solving this diagnostic dilemma may lead to recommendations for athletes to be cleared to play or disqualified from competitive sports, and presents challenging and controversial decisions to the health care provider that can prove difficult to implement. Although exercise contributes to physical and psychological well-being, there are insufficient data to indicate whether an athlete with hypertrophic cardiomyopathy diagnosed after a syncopal episode can safely resume competitive physical activity. The purpose of this study was to review the literature on syncope in young athletes and its relationship to individuals with hypertrophic cardiomyopathy, in order to enable accurate assessment of prognosis and the possibility of resuming competitive sports. Copyright © 2016 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

  4. Hypertrophic cardiomyopathy: from mutation to functional analysis of defective protein

    Czech Academy of Sciences Publication Activity Database

    Čapek, P.; Vondrášek, Jiří; Škvor, J.; Brdička, R.

    2011-01-01

    Roč. 52, č. 3 (2011), s. 384-391 ISSN 0353-9504 Grant - others:GA MŠk(CZ) LN00B107 Program:LN Institutional research plan: CEZ:AV0Z40550506 Keywords : myosin heavy chain * homology modeling * molecular simulation * inherited cardiomyopathies Subject RIV: CE - Biochemistry Impact factor: 1.796, year: 2011

  5. Extent of late gadolinium enhancement at right ventricular insertion points in patients with hypertrophic cardiomyopathy: relation with diastolic dysfunction

    Energy Technology Data Exchange (ETDEWEB)

    Zhu, Yinsu [Seoul National University Hospital, Department of Radiology, Seoul (Korea, Republic of); The First Affiliated Hospital of Nanjing Medical University, Department of Radiology, Nanjing, Jiangsu (China); Park, Eun-Ah; Lee, Whal; Chu, Ajung; Chung, Jin Wook; Park, Jae Hyung [Seoul National University Hospital, Department of Radiology, Seoul (Korea, Republic of); Kim, Hyung-Kwan [Seoul National University Hospital, Division of Cardiology, Department of Internal Medicine, Seoul (Korea, Republic of)

    2015-04-01

    Our aim was to examine the association between the extent of late gadolinium enhancement (LGE) at right ventricular insertion points (RVIP) and left ventricular (LV) functional parameters in patients with hypertrophic cardiomyopathy (HCM). Sixty-one HCM patients underwent echocardiography and cardiovascular magnetic resonance (CMR) within one week. Mitral annular velocities (E/E') were obtained from echocardiography; LV ejection fraction (EF), LV mass index, LV wall maximal thickness, and left atrial volume index (LAVI) were obtained from MR. LGE extent was quantified (proportion of total LV myocardial mass) according to location: % RVIP-LGE and % non-RVIP-LGE. Although LGE was commonly present in both apical (74 %) and non-apical HCMs (88 %) (p = 0.163), RVIP-LGE was more frequent (86 % vs. 47 %, p = 0.002) in non-apical HCMs in which E/E' was significantly higher (19.23 ± 8.40 vs. 13.13 ± 5.06, p = 0.009). In addition, RVIP-LGE extent was associated with LV diastolic dysfunction (r = 0.45, p < 0.001 for E/E'; r = 0.53, p < 0.001 for LAVI) and lower LVEF (r = -0.42, p = 0.001). There was no correlation between non-RVIP-LGE extent and other parameters. Multiple linear regression analysis revealed RVIP-LGE extent as an independent predictor of E/E' (β = 0.45, p < 0.001) and LAVI in HCM patients (β = 0.53, p < 0.001). The extent of LGE at RVIPs in HCM patients is associated with increased estimated LV filling pressure and chronic diastolic burden. (orig.)

  6. High sensitivity of late gadolinium enhancement for predicting microscopic myocardial scarring in biopsied specimens in hypertrophic cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    Tetsuo Konno

    Full Text Available BACKGROUND: Myocardial scarring can be assessed by cardiac magnetic resonance imaging with late gadolinium enhancement and by endomyocardial biopsy. However, accuracy of late gadolinium enhancement for predicting microscopic myocardial scarring in biopsied specimens remains unknown in hypertrophic cardiomyopathy. We investigated whether late gadolinium enhancement in the whole heart reflects microscopic myocardial scarring in the small biopsied specimens in hypertrophic cardiomyopathy. METHODS AND RESULTS: Twenty-one consecutive patients with hypertrophic cardiomyopathy who were examined both by cardiac magnetic resonance imaging and by endomyocardial biopsy were retrospectively studied. The right interventricular septum was the target site for endomyocardial biopsy in all patients. Late gadolinium enhancement in the ventricular septum had an excellent sensitivity (100% with a low specificity (40% for predicting microscopic myocardial scarring in biopsied specimens. The sensitivity of late gadolinium enhancement in the whole heart remained 100% with a specificity of 27% for predicting microscopic myocardial scarring in biopsied specimens. Quantitative assessments of fibrosis revealed that the extent of late gadolinium enhancement in the whole heart was the only independent variable related to the microscopic collagen fraction in biopsied specimens (β  =  0.59, 95% confident interval: 0.15 - 1.0, p  =  0.012. CONCLUSIONS: Although there was a compromise in the specificity, the sensitivity of late gadolinium enhancement was excellent for prediction of microscopic myocardial scarring in hypertrophic cardiomyopathy. Moreover, the severity of late gadolinium enhancement was independently associated with the quantitative collagen fraction in biopsied specimens in hypertrophic cardiomyopathy. These findings indicate that late gadolinium enhancement can reflect both the presence and the extent of microscopic myocardial scarring in the small

  7. Heart rate turbulence as a marker of myocardial electrical instability in children with hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    V. A. Makarova

    2014-01-01

    Full Text Available Heart rate turbulence is a myocardial electrical instability marker used to stratify the risk of sudden cardiac death. Fifty children aged 7 to 17 years with hypertrophic cardiomyopathy were examined. The survey program included standard electrocardiography, Doppler echocardiography, and 24-hour Holter ECG monitoring. Heart rate turbulence parameters, such as turbulence onset and turbulence slope, were analyzed. According to turbulence onset greater than zero, heart rate turbulence impairment was identified in 5 of the 24 patients included in the survey. The abnormal turbulence slope values of less than 6 msec/RR were found in 3 patients. Both parameters were abnormal in 1 patient. Heart rate turbulence impairment was significantly more common in children with the non-obstructive form of hypertrophic cardiomyopathy than in those with its obstructive form (χ2=3,05; p=0,08. All the children with abnormal heart rhythm turbulence values had one or more major risk factors for sudden cardiac death, which significantly exceeds their rates in the normal heart rate turbulence groups (χ2=7,11; p=0,007. The patients with abnormal turbulence onset values were more often found to have syncope (χ2=3,2; p=0,02. One such patient was recorded to have unstable ventricular tachycardia (χ2=10,56; p=0,001. Our findings suggest that heart rate turbulence is an additional predictor of the unfavorable course of hypertrophic cardiomyopathy in children. 

  8. Mitral valve repair or replacement in hypertrophic obstructive cardiomyopathy: a prospective randomized study.

    Science.gov (United States)

    Bogachev-Prokophiev, Alexander; Afanasyev, Alexander; Zheleznev, Sergey; Fomenko, Michael; Sharifulin, Ravil; Kretov, Eugenie; Karaskov, Alexander

    2017-09-01

    The optimal surgical strategy for concomitant mitral valve intervention during myectomy remains controversial. The purpose of this study was to compare the results of mitral valve replacement versus repair in patients with hypertrophic obstructive cardiomyopathy and severe mitral regurgitation. Between 2010 and 2013, a total of 88 patients with hypertrophic obstructive cardiomyopathy and severe mitral regurgitation were randomly assigned to undergo either mitral valve replacement or repair in addition to extended myectomy. Three patients from the repair group were switched to mitral valve replacement after repair failure. There was 1 early death (2.4%) in the replacement group. The resting left ventricular outflow tract gradient was reduced from 89.1 ± 20.4 to 18.3 ± 5.7 mmHg (P replacement and repair groups, respectively; there was no significant difference between the groups (P = 0.458). At 2-year follow-up, overall survival was 87.2 ± 4.9% and 96.7 ± 3.3% (P = 0.034); freedom from sudden cardiac death was 95.6 ± 3.1% and 96.7 ± 3.3% (P = 0.615); and freedom from thromboembolic events was 91.2 ± 4.2% and 100%, respectively (P = 0.026). Both mitral valve repair and valve replacement in addition to extended myectomy are effective methods of surgical treatment in patients with hypertrophic obstructive cardiomyopathy who have severe mitral regurgitation. The benefits of mitral valve repair are better overall survival and a lower rate of thromboembolic events. ClinicalTrials.gov: NCT02054221. © The Author 2017. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  9. Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Maron, Martin S; Xin, Winnie; Sims, Katherine B; Butler, Rita; Haas, Tammy S; Rowin, Ethan J; Desnick, Robert J; Maron, Barry J

    2018-02-01

    Fabry disease is an X-linked lysosomal storage disorder caused by the deficient activity of α-galactosidase A due to mutations in the GLA gene, which may be associated with increased left ventricular wall thickness and mimic the morphologic features of hypertrophic cardiomyopathy. Management strategies for these 2 diseases diverge, with Fabry disease-specific treatment utilizing recombinant α-galactosidase A enzyme replacement therapy. We studied a prospectively assembled consecutive cohort of 585 patients (71% male) from 2 hypertrophic cardiomyopathy tertiary referral centers by screening for low α-galactosidase A activity in dried blood spots. Male patients with low α-galactosidase A activity levels and all females were tested for mutations in the GLA gene. In 585 patients previously diagnosed with hypertrophic cardiomyopathy, we identified 2 unrelated patients (0.34%), both with the GLA mutation encoding P.N215S, the most common mutation causing later-onset Fabry disease phenotype. These patients were both asymptomatic, a man aged 53 years and a woman aged 69 years, and demonstrated a mild cardiac phenotype with symmetric distribution of left ventricular hypertrophy. After family screening, a total of 27 new Fabry disease patients aged 2-81 years were identified in the 2 families, including 12 individuals who are now receiving enzyme replacement therapy. These observations support consideration for routine prospective screening for Fabry disease in all patients without a definitive etiology for left ventriclar hypertrophy. This strategy would likely result, through cascade family testing, in the earlier identification of new Fabry disease-affected males and female heterozygotes who may benefit from monitoring and/or enzyme replacement therapy. Copyright © 2018 Elsevier Inc. All rights reserved.

  10. Nonobstructive Hypertrophic Cardiomyopathy Out of the Shadows: Known from the Beginning but Largely Ignored … Until Now.

    Science.gov (United States)

    Maron, Barry J; Rowin, Ethan J; Maron, Martin S; Braunwald, Eugene

    2017-02-01

    Hypertrophic cardiomyopathy was first recognized as a disease of obstruction to left ventricular outflow, hence, its early names and acronyms such as idiopathic hypertrophic subaortic obstruction. The nonobstructive subset of patients, incapable of developing mechanical impedance to left ventricular outflow at rest or with physiologic exercise, was initially recognized by the Braunwald group at the National Institutes of Health >50 years ago in the preimaging era, and is now recognized as comprising about one-third of hypertrophic cardiomyopathy patients. Nevertheless, until recently, and for 25 years, this substantial patient subset has been largely ignored and incompletely understood in terms of its clinical significance and consequences. However, the newfound interest in nonobstructive hypertrophic cardiomyopathy with recent cohort data permits more robust clarity of this subset, as well as the overall disease spectrum. As a group, patients with nonobstructive disease experience a largely stable clinical course at relatively low risk for progressive heart failure symptoms to New York Heart Association class III/IV in (90%). On the other hand, there is a small but important subgroup of 10% at risk for developing drug-refractory advanced heart failure sufficient to justify consideration for heart transplant as the only definitive treatment option. This recognition closes a significant gap in understanding the natural history of hypertrophic cardiomyopathy, also underscoring that the disease is not uniformly grim but instead consistent with extended longevity, thereby providing many patients with a measure of reassurance. Copyright © 2016. Published by Elsevier Inc.

  11. Hypertrophic Cardiomyopathy After a Single Dose of Dexamethasone in a Preterm Infant

    Directory of Open Access Journals (Sweden)

    Yusuf Kale

    2015-08-01

    Full Text Available Dexamethasone is widely used in preterm infants with severe pulmonary disease. Hypertrophic cardiomyopathy (HCM is a transient side effect observed after multiple doses of dexamethasone. We report a preterm infant with myocardial hypertrophy after a single dose of dexamethasone (0.5 mg/kg used to treat laryngeal edema secondary to prolonged intubation. A benign course was observed without left ventricular outflow tract obstruction and with recovery within 4 weeks. Myocardial effects of dexamethasone may be independent of dose and duration of treatment. The risk/benefit ratio must be carefully considered before using even a single dose of dexamethasone in preterm infants.

  12. Efficacy and safety of the angiotensin II receptor blocker losartan for hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Axelsson, Anna; Iversen, Kasper; Vejlstrup, Niels

    2015-01-01

    18 years and older) with obstructive or non-obstructive hypertrophic cardiomyopathy were randomly assigned via computer-based system to losartan (100 mg per day) or placebo for 12 months. Patients and investigators were masked to assigned treatment. The primary endpoint was change in left ventricular......·0001) confirmed drug compliance; blood pressure did not decrease in the placebo group. Two (2%) patients, both in the placebo group, died from sudden cardiac death during follow-up. In the losartan group, one (1%) patient had angioedema, one (1%) had deterioration of renal function, and one (1%) had hyperkalaemia...

  13. Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome

    Directory of Open Access Journals (Sweden)

    Lutgardo García-Díaz

    2013-01-01

    Full Text Available A case of prenatally diagnosed fetal hypertrophic cardiomyopathy is reported. The mother was referred to our department at 37 weeks' gestation because of suspected congenital heart disease. Prenatal echocardiography showed biventricular hypertrophy and pericardial effusion, without additional abnormalities. Postnatal echocardiography confirmed prenatal diagnosis. Neonatal EKG showed biventricular hypertrophy and Wolff-Parkinson-White syndrome. Skeletal muscle biopsy was consistent with mitochondrial oxidative phosphorylation defect involving a combined defect of respiratory complexes I and IV. Echocardiographic followup during the first year of life showed progressive regression of hypertrophy and evolution to left ventricular myocardial noncompaction.

  14. Nuclear magnetic resonance imaging in patients with hypertrophic and dilated cardiomyopathy

    International Nuclear Information System (INIS)

    Boisvieux, A.

    1987-01-01

    Patients with hypertrophic and dilated cardiomyopathy and normal subjects were investigated with nuclear magnetic resonance imaging. To evaluate the NMR scanner possibilities, the results were compared with the echocardiographic investigation of the same patients. The capabilities of NMR imaging to provide information about intracardiac anatomy are emphasized. This study is preceded by a description of the physical principles underlying the phenomenon of nuclear magnetic resonance and of the techniques used to obtain NMR images and a review of the clinical use of NMR imaging for cardiac diagnosis [fr

  15. The role of imaging in the diagnosis and management of hypertrophic cardiomyopathy.

    Science.gov (United States)

    Weissler-Snir, Adaya; Crean, Andrew; Rakowski, Harry

    2016-01-01

    Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiomyopathy, affecting approximately 1:500 people. As the yield of genetic testing is only about 35-60%, the diagnosis of HCM is still clinical and based on the demonstration of unexplained and usually asymmetric left ventricular (LV) hypertrophy by imaging modalities. In the past, echocardiography was the sole imaging modality used for the diagnosis and management of HCM. However, in recent years other imaging modalities such as cardiac magnetic resonance have played a major role in the diagnosis, management and risk stratification of HCM, particularly when the location of left ventricular hypertrophy is atypical (apex, lateral wall) and when the echocardiographic imaging is sub-optimal. However, the most unique contribution of cardiac magnetic resonance is the quantification of myocardial fibrosis. Exercise stress echocardiography is the preferred provocative test for the assessment of LV outflow tract obstruction, which is detected only on provocation in one-third of the patients.

  16. Resolution of Neonatal Hypertrophic Cardiomyopathy Presumed Secondary to Acquired Maternal Ribonucleoprotein and Smith Autoantibodies

    Directory of Open Access Journals (Sweden)

    A. Shah

    2013-10-01

    Full Text Available Severe asymmetrical hypertrophic cardiomyopathy without heart block accompanied by neuromuscular hypotonia and feeding difficulties was evident shortly after birth in the second child of a mother with systemic lupus erythematosus who had no indication of gestational diabetes. High-level anti-ribonucleoprotein (RNP and Smoth (Sm antibodies arising from transplacental transfer of maternal antibodies were detected in the child's serum. The cardiac abnormalities improved with a commensurate decline in antibody titers. Previously reported cases of neonatal cardiomyopathy with endocardial fibroelastosis have been ascribed to the transplacental transfer of maternal Sjogrens Syndrome (SS A (Ro and Sjogrens Syndrome (SS B (La antibodies and have been more severe and persistent compared with our patient. We advocate close monitoring of all babies of mothers with systemic autoimmunity for changes in heart rate during pregnancy and signs of heart failure and neuromuscular weakness after delivery.

  17. Identification of established arrhythmogenic right ventricular cardiomyopathy mutation in a patient with the contrasting phenotype of hypertrophic cardiomyopathy.

    Science.gov (United States)

    Bainbridge, Matthew Neil; Li, Lili; Tan, Yanli; Cheong, Benjamin Y; Marian, Ali J

    2017-03-03

    Advances in the nucleic acid sequencing technologies have ushered in the era of genetic-based "precision medicine". Applications of the genetic discoveries to practice of medicine, however, are hindered by phenotypic variability of the genetic variants. The report illustrates extreme pleiotropic phenotypes associated with an established causal mutation for hereditary cardiomyopathy. We report a 61-year old white female who presented with syncope and echocardiographic and cardiac magnetic resonance (CMR) imaging findings consistent with the diagnosis of hypertrophic cardiomyopathy (HCM). The electrocardiogram, however, showed a QRS pattern resembling an Epsilon wave, a feature of arrhythmogenic right ventricular cardiomyopathy (ARVC). Whole exome sequencing (mean depth of coverage of exons 178X) analysis did not identify a pathogenic variant in the known HCM genes but identified an established causal mutation for ARVC. The mutation involves a canonical splice accepter site (c.2146-1G > C) in the PKP2 gene, which encodes plakophillin 2. Sanger sequencing confirmed the mutation. PKP2 is the most common causal gene for ARVC but has not been implicated in HCM. Findings on echocardiography and CMR during the course of 4-year follow up showed septal hypertrophy and a hyperdynamic left ventricle, consistent with the diagnosis of HCM. However, neither baseline nor follow up echocardiography and CMR studies showed evidence of ARVC. The right ventricle was normal in size, thickness, and function and there was no evidence of fibro-fatty infiltration in the myocardium. The patient carries an established pathogenic mutation for ARVC and a subtle finding of ARVC but exhibits the classic phenotype of HCM, a contrasting phenotype to ARVC. The case illustrates the need for detailed phenotypic characterization for patients with hereditary cardiomyopathies as well as the challenges physicians face in applying the genetic discoveries in practicing genetic-based "precision medicine".

  18. Apical ballooning with mid-ventricular obstruction: the many faces of Takotsubo cardiomyopathy

    Science.gov (United States)

    Spadotto, Veronica; Elmaghawry, Mohamed; Zorzi, Alessandro; Migliore, Federico; Marra, Martina Perazzolo

    2013-01-01

    Takotsubo cardiomyopathy (TTC) is a transient left ventricular dysfunction due to akinesia of the left-ventricular (LV) mid-apical segments (apical ballooning), which can cause severe reduction in LV systolic function. The typical clinical picture of TTC include chest pain, electrocardiographic changes consisting of mild ST-segment elevation followed by diffuse deep T-wave inversion, QTc interval prolongation and mild troponin release in the absence of significant coronary stenoses. The syndrome often affects post-menopausal women and is triggered by sympathetic overstimulation, like intense physical or emotional stress, so that it is called the “broken heart syndrome”. Although left-ventricular systolic dysfunction usually fully recovers within few days, heart failure can still complicate the early phase. We report a case of stress-induced cardiomyopathy that had full recovery after 4 weeks of follow up. The main electrocardiographic, angiographic and imaging features are discussed. PMID:24689016

  19. Pattern of left ventricular hypertrophy seen on transthoracic echo in patients with hypertensive cardiomyopathy when compared with idiopathic hypertrophic cardiomyopathy.

    Science.gov (United States)

    Mirza, Sumbul Javed; Radaideh, Ghazi Ahmad

    2013-01-01

    To explore the pattern of left ventricular hypertrophy caused by hypertension and to compare it with idiopathic hypertrophiccardiomyopathy. The retrospective study was conducted at the echocardiography lab of Rashid Hospital, Dubai, from January 2009 to January 2010. Cases of 11 patients with significant left ventricular hypertrophy (septum > 15 mm) due to underlying hypertension were analysed and compared with 11 cases of idiopathic hypertrophic cardiography (septum >15mm) to assess the two groups with similar baseline echocardiographic features. Minitab software was used for statistical analysis. Although the pattern of hypertrophy in hypertensive patients was more concentric (n = 5; 45%), there was also asymmetrical septal hypertrophy in 4 (36%) cases, particularly the elderly with sigmoid shape septum. There was evidence of resting mid-cavity gradient due to reduced left ventricular end-systolic diametre in 4 (36%) cases. Although the equation between hypertension and left ventricular hypertrophy is more concentric, but it can be associated with left ventricular outflow tract obstruction and significant mid-cavity gradients similar to that seen in idiopathic hypertrophic cardiomyopathy.

  20. Significance and relation between magnitude of left ventricular hypertrophy and heart failure symptoms in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Maron, Martin S; Zenovich, Andrey G; Casey, Susan A; Link, Mark S; Udelson, James E; Aeppli, Dorothee M; Maron, Barry J

    2005-06-01

    In hypertrophic cardiomyopathy (HC), an important subgroup of patients develop progressive and disabling symptoms that are related to heart failure and death. Although a direct relation has been demonstrated between left ventricular (LV) wall thickness and likelihood of sudden and unexpected death (usually in patients who are asymptomatic or mildly symptomatic), it is unresolved whether magnitude of hypertrophy is similarly associated with severity of heart failure. To determine the relation of LV wall thickness to heart failure symptoms in HC, 700 consecutive patients who had HC were assessed by 2-dimensional echocardiography. The relation between maximum level of heart failure symptoms by New York Heart Association functional class and maximum LV wall thickness was not linear but rather parabolic. Therefore, marked symptoms were most commonly associated with moderate degrees of LV hypertrophy (wall thickness 16 to 24 mm; 27%) but less frequently with extreme hypertrophy (>/=30 mm 13%) or mild hypertrophy (symptoms and magnitude of LV hypertrophy to be independent of other hypertrophic cardiomyopathy related clinical variables. In conclusion, no direct relation was evident between symptoms of heart failure and magnitude of LV wall thickness, with implications for the natural history of HC.

  1. Percutaneous Septal Ablation in Hypertrophic Obstructive Cardiomyopathy: From Experiment to Standard of Care

    Science.gov (United States)

    2014-01-01

    Hypertrophic cardiomyopathy (HCM) is one of the more common hereditary cardiac conditions. According to presence or absence of outflow obstruction at rest or with provocation, a more common (about 60–70%) obstructive type of the disease (HOCM) has to be distinguished from the less common (30–40%) nonobstructive phenotype (HNCM). Symptoms include exercise limitation due to dyspnea, angina pectoris, palpitations, or dizziness; occasionally syncope or sudden cardiac death occurs. Correct diagnosis and risk stratification with respect to prophylactic ICD implantation are essential in HCM patient management. Drug therapy in symptomatic patients can be characterized as treatment of heart failure with preserved ejection fraction (HFpEF) in HNCM, while symptoms and the obstructive gradient in HOCM can be addressed with beta-blockers, disopyramide, or verapamil. After a short overview on etiology, natural history, and diagnostics in hypertrophic cardiomyopathy, this paper reviews the current treatment options for HOCM with a special focus on percutaneous septal ablation. Literature data and the own series of about 600 cases are discussed, suggesting a largely comparable outcome with respect to procedural mortality, clinical efficacy, and long-term outcome. PMID:26556411

  2. Exercise Tl-201 myocardial scintigraphy and coronary blood flow velocity in patients with hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Sugihara, Hiroki; Umamoto, Ikuo; Harada, Yoshiaki (Kyoto Prefectural Univ. of Medicine (Japan)) (and others)

    1992-03-01

    In 22 patients with hypertrophic cardiomyopathy not associated with coronary stenosis, findings of exercise Tl-201 myocardial scintigraphy were reviewed in relation to coronary blood flow velocity. Blood flow velocity of the left antero-inferior segment was recorded by using a Doppler catheter. From time velocity integration in systolic and diastolic phases, both % systolic fraction (%SF) and %diastolic 1st third fraction (%d1F) were obtained. A decreased perfusion was visually assessed on exercise Tl-201 myocardial images. In addition, transient dilation of the left ventricular cavity was quantitatively assessed by expressing it as a transient dilation index (TDI) for subendocardial ischemia. Coronary blood flow velocity was characterized by a decrease in both %SF and %d1F and negative systolic flow. Both %SF and %d1F were inversely correlated with TDI. Coronary negative systolic flow was frequently associated with a decreased perfusion. These results suggest factors such as left ventricular relaxation impairment, other than coronary small vessel lesions, may also be involved in the occurrence of myocardial ischemia in hypertrophic cardiomyopathy. (N.K.).

  3. Homeostatic Left Heart integration and disintegration links atrio-ventricular covariation's dyshomeostasis in Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Piras, Paolo; Torromeo, Concetta; Evangelista, Antonietta; Gabriele, Stefano; Esposito, Giuseppe; Nardinocchi, Paola; Teresi, Luciano; Madeo, Andrea; Schiariti, Michele; Varano, Valerio; Puddu, Paolo Emilio

    2017-07-24

    Left ventricle and left atrium are and have been practically always analyzed separately in common clinically and non-clinically oriented cardiovascular investigations. Both classic and speckle tracking echocardiographic data contributed to the knowledge about deformational impairments occurring in systo-diastolic differences. Recently new trajectory based approaches allowed a greater awareness about the entire left ventricle or left atrium revolution and on their deficiencies that take place in presence of hypertrophic cardiomyopathy. However, surprisingly, the concomitant function of the two left heart chambers has not been analyzed for their geometrical/mechanical relationship. For the first time we study here, by acquiring left ventricle and left atrial geometries on the same heartbeat, the trajectory attributes of the entire left heart treated as a whole shape and the shape covariation of its two subunits. We contrasted healthy subjects with patients affected by hypertrophic cardiomyopathy. We found impaired left heart trajectory mainly in terms of orientation and size. More importantly, we found profound differences in the direction of morphological covariation of left ventricle and left atrium. These findings open to new perspectives in pathophysiological evaluation of different diseases by allowing the appreciation of concomitant functioning of both left heart whole geometry and of its two chambers.

  4. Invasive assessment of coronary microvascular dysfunction in hypertrophic cardiomyopathy: the index of microvascular resistance

    Energy Technology Data Exchange (ETDEWEB)

    Gutiérrez-Barrios, Alejandro, E-mail: aleklos@hotmail.com [Cardiology Department, Jerez Hospital, Jerez (Spain); Camacho-Jurado, Francisco [Cardiology Department, Punta Europa Hospital, Algeciras (Spain); Díaz-Retamino, Enrique; Gamaza-Chulián, Sergio; Agarrado-Luna, Antonio; Oneto-Otero, Jesús; Del Rio-Lechuga, Ana; Benezet-Mazuecos, Javier [Cardiology Department, Jerez Hospital, Jerez (Spain)

    2015-10-15

    Summary: We present a review of microvascular dysfunction in hypertrophic cardiomyopathy (HCM) and an interesting case of a symptomatic familial HCM patient with inducible ischemia by single photon emission computed tomography. Coronary angiography revealed normal epicardial arteries. Pressure wire measurements of fractional flow reserve (FFR), coronary flow reserve (CFR) and index of microvascular resistance (IMR) demonstrated a significant microcirculatory dysfunction. This is the first such case that documents this abnormality invasively using the IMR. The measurement of IMR, a novel marker of microcirculatory dysfunction, provides novel insights into the pathophysiology of this condition. - Highlights: • Microvascular dysfunction is a common feature in hypertrophic cardiomyopathy (HCM) and represents a strong predictor of unfavorable outcome and cardiovascular mortality. • The index of microvascular resistance (IMR) is a new method for invasively assessing the state of the coronary microcirculation using a single pressure-temperature sensor-tipped coronary wire. • However assessment of IMR in HCM has not been previously reported. We report a case in which microvascular dysfunction is assessed by IMR. This index may be useful in future researches of HCM.

  5. Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy.

    Science.gov (United States)

    Hinek, Aleksander; Teitell, Michael A; Schoyer, Lisa; Allen, William; Gripp, Karen W; Hamilton, Robert; Weksberg, Rosanna; Klüppel, Michael; Lin, Angela E

    2005-02-15

    Costello syndrome is a distinctive multiple congenital anomaly syndrome, characterized by loose soft skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features, skeletal abnormalities, cardiac abnormalities (cardiovascular malformation (CVM), hypertrophic cardiomyopathy, tachycardia), predisposition to malignancy, developmental delays, and mental retardation. Previous studies with cultured fibroblasts from individuals with Costello syndrome demonstrate excessive accumulation of chondroitin sulfate-bearing proteoglycans, associated with both impaired formation of elastic fibers and an unusually high rate of cellular proliferation. Despite multiple clinical reports of cardiac abnormalities, there has been only one previously published report describing post-mortem findings in hearts from Costello syndrome patients. Here we provide a detailed description of the post-mortem findings of the hearts of three children with Costello syndrome. Routine histological examination and results of targeted histochemical and immunohistochemical studies revealed that in addition to cardiomyocyte hypertrophy, these hearts also demonstrated massive pericellular and intracellular accumulation of chondroitin sulfate-bearing proteoglycans and a marked reduction of elastic fibers. Normal stroma was replaced by multifocal collagenous fibrosis. Most peculiar was the finding that the bulk of the chondroitin sulfate accumulated in these Costello syndrome hearts is a chondroitin-6-sulfate. In contrast, deposition of chondroitin-4 sulfate was below the level detected in normal hearts. We propose that an imbalance in sulfation of chondroitin sulfate molecules and subsequent accumulation of chondroitin-6-sulfate in cardiomyocytes contribute to the development of the hypertrophic cardiomyopathy of Costello syndrome. (c) 2005 Wiley-Liss, Inc.

  6. Percutaneous Septal Ablation in Hypertrophic Obstructive Cardiomyopathy: From Experiment to Standard of Care

    Directory of Open Access Journals (Sweden)

    Lothar Faber

    2014-01-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is one of the more common hereditary cardiac conditions. According to presence or absence of outflow obstruction at rest or with provocation, a more common (about 60–70% obstructive type of the disease (HOCM has to be distinguished from the less common (30–40% nonobstructive phenotype (HNCM. Symptoms include exercise limitation due to dyspnea, angina pectoris, palpitations, or dizziness; occasionally syncope or sudden cardiac death occurs. Correct diagnosis and risk stratification with respect to prophylactic ICD implantation are essential in HCM patient management. Drug therapy in symptomatic patients can be characterized as treatment of heart failure with preserved ejection fraction (HFpEF in HNCM, while symptoms and the obstructive gradient in HOCM can be addressed with beta-blockers, disopyramide, or verapamil. After a short overview on etiology, natural history, and diagnostics in hypertrophic cardiomyopathy, this paper reviews the current treatment options for HOCM with a special focus on percutaneous septal ablation. Literature data and the own series of about 600 cases are discussed, suggesting a largely comparable outcome with respect to procedural mortality, clinical efficacy, and long-term outcome.

  7. Current perspectives in hypertrophic cardiomyopathy with the focus on patients in the Finnish population: a review.

    Science.gov (United States)

    Kuusisto, Johanna; Sipola, Petri; Jääskeläinen, Pertti; Naukkarinen, Anita

    2016-11-01

    Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease, with the prevalence of about 1/500. During the last two decades, the knowledge of the etiology, pathogenesis, risk stratification and prevention of sudden death in HCM has substantially advanced. Most often, HCM is familial and caused by mutations in sarcomere genes, inherited in an autosomal dominant manner. In Finland, genetic background of HCM is unique, with a few founder mutations in cardiac sarcomere genes accounting for a considerable proportion of the disease. Pathogenic mechanisms induced by disease-causing mutations are still poorly understood, although alterations in intracellular calcium handling and inefficient generation of contractile force in myocytes are considered key features in triggering the hypertrophic response. Clinical features of the disease are highly variable from no symptoms to the spectrum of exertional dyspnea, angina, palpitations, syncope and sudden death. In the current patient care, implantable cardioverter defibrillators (ICDs) are successfully used to prevent sudden cardiac death in high risk subjects. Targeted genetic testing is recommended to confirm the diagnosis in patients with HCM and to identify family members with the disease. Future research is needed to elucidate key cellular mechanisms leading to HCM, which may allow specific prevention and treatment of the disease. Key messages Hypertrophic cardiomyopathy, most often caused by defects in sarcomere genes, is the most common inherited heart disease, and a common cause of sudden cardiac death (SCD) in athletes and young subjects. Cardiac imaging, ECG and genetic testing are pivotal in the diagnosis of the disease in patients and first-degree relatives. Implantable cardioverter defibrillators in patients with high risk for SCD and tailored pharmacotherapy are efficient tools in patient care, but so far, exact mechanisms leading to cardiac hypertrophy in HCM are only partially understood, and

  8. Nonischemic ST segment elevation in hypertrophic cardiomyopathy due to chest wall deformity from kyphoscoliosis

    Directory of Open Access Journals (Sweden)

    Aleš Blinc

    2010-04-01

    Full Text Available Aleš Blinc1, Mirjam Gubenšek1, Mišo Šabovič1, Marko Grmek2, Pavel Berden31Department of Vascular Diseases, 2Department of Nuclear Medicine, 3Department of Radiology, University Medical Centre Ljubljana, Ljubljana, SloveniaAbstract: A 57-year-old male was admitted with suspected acute coronary syndrome. He reported experiencing moderate chest pain when walking during the day prior to admission, but had very prominent ST segment elevations in the precordial electrocardiography (EKG leads. A physical examination revealed remarkable severe kyphoscoliosis with chest deformity. The patient’s cardiac troponin levels remained normal, while cardiac ultrasound and magnetic resonance imaging of the chest confirmed hypertrophic cardiomyopathy (HCM with severe thickening of the interventricular septum. Ischemic heart disease was ruled out by myocardial perfusion imaging with 99mTc-MIBI during rest and dipyridamole-induced stress without showing irreversible or reversible myocardial ischemia. Our diagnosis was that the chest pain was noncardiac in origin and that the pronounced ST segment elevations in the precordial EKG leads reflected the severely hypertrophic interventricular septum through the normally thick left ventricular free wall. The patient’s chest wall deformity brought his septum and the ventricular free wall nearly parallel to the left side of the chest wall, allowing for complete expression of the reciprocal EKG pattern of septal hypertrophy. We suggest that EKG findings should always be interpreted with the chest wall shape being kept in mind.Keywords: hypertrophic cardiomyopathy, EKG, ST segment elevation

  9. Quality of life and psychological distress in hypertrophic cardiomyopathy mutation carriers: A cross-sectional cohort study

    NARCIS (Netherlands)

    Christiaans, Imke; Van Langen, Irene M.; Birnie, Erwin; Bonsel, Gouke J.; Wilde, Arthur A.M.; Smets, Ellen M.A.

    2009-01-01

    Hypertrophic cardiomyopathy (HCM) is a common hereditary heart disease associated with heart failure and sudden death.Quality of life and psychological distress were found to be impaired in HCM patients but have never been assessed in mutationcarriers, with or without manifest HCM. We aimed to

  10. Long-Term Outcome of Alcohol Septal Ablation for Obstructive Hypertrophic Cardiomyopathy in the Young and the Elderly

    NARCIS (Netherlands)

    Liebregts, Max; Steggerda, Robbert C.; Vriesendorp, Pieter A.; van Velzen, Hannah; Schinkel, Arend F. L.; Willems, Rik; van Cleemput, Johan; van den Berg, Maarten P.; Michels, Michelle; ten Berg, Jurrien M.

    2016-01-01

    OBJECTIVES The aim of this study was to compare outcomes of alcohol septal ablation (ASA) in young and elderly patients with obstructive hypertrophic cardiomyopathy (HCM). BACKGROUND The American College of Cardiology Foundation/American Heart Association guidelines reserve ASA for elderly patients

  11. Quality of Life and Psychological Distress in Hypertrophic Cardiomyopathy Mutation Carriers: A Cross-Sectional Cohort Study

    NARCIS (Netherlands)

    Christiaans, Imke; van Langen, Irene M.; Birnie, Erwin; Bonsel, Gouke J.; Wilde, Arthur A. M.; Smets, Ellen M. A.

    2009-01-01

    Hypertrophic cardiomyopathy (HCM) is a common hereditary heart disease associated with heart failure and sudden death. Quality of life and psychological distress were found to be impaired in HCM patients but have never been assessed in mutation carriers, with or without manifest HCM. We aimed to

  12. Impact of the papillary muscles on cardiac magnetic resonance image analysis of important left ventricular parameters in hypertrophic cardiomyopathy

    NARCIS (Netherlands)

    Gommans, D.H.F.; Bakker, J.; Cramer, G.E.; Verheugt, F.W.A.; Brouwer, M.A.; Kofflard, M.J.M.

    2016-01-01

    PURPOSE: The use of cardiac magnetic resonance (CMR) analysis has increased in patients with hypertrophic cardiomyopathy (HCM). Quantification of left ventricular (LV) measures will be affected by the inclusion or exclusion of the papillary muscles as part of the LV mass, but the magnitude of effect

  13. Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives

    DEFF Research Database (Denmark)

    Andersen, Paal Skytt; Havndrup, Ole; Hougs, Lotte

    2008-01-01

    The American Heart Association (AHA) recommends family screening for hypertrophic cardiomyopathy (HCM). We assessed the outcome of family screening combining clinical evaluation and screening for sarcomere gene mutations in a cohort of 90 Danish HCM patients and their close relatives, in all 451...

  14. One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region

    DEFF Research Database (Denmark)

    Hougs, Lotte; Havndrup, Ole; Bundgaard, Henning

    2005-01-01

    Familial hypertrophic cardiomyopathy (FHC) is, in most cases, a disease of the sarcomere, caused by a mutation in one of 10 known sarcomere disease genes. More than 266 mutations have been identified since 1989. The FHC disease gene first characterized MYH7, encodes the cardiac beta-myosin heavy...

  15. Impact of alcohol septal ablation on left anterior descending coronary artery blood flow in hypertrophic obstructive cardiomyopathy

    NARCIS (Netherlands)

    van Dockum, W.G.; Knaapen, P.; Hofman, M.B.M.; Kuijer, J.P.A.; ten Cate, F.J.; ten Berg, J.M.; Beek, A.M.; Twisk, J.W.R.; van Rossum, A.C.

    2009-01-01

    Objectives: The aim of this study was to evaluate the effects of alcohol septal ablation (ASA) on coronary blood flow in symptomatic hypertrophic obstructive cardiomyopathy (HOCM) using cardiac MR (CMR) coronary flow measurements. Background: CMR flow mapping enables quantification of coronary blood

  16. Prevalence of exercise-induced left ventricular outflow tract obstruction in symptomatic patients with non-obstructive hypertrophic cardiomyopathy.

    LENUS (Irish Health Repository)

    Shah, J S

    2008-10-01

    Resting left ventricular outflow tract obstruction (LVOTO) occurs in 25% of patients with hypertrophic cardiomyopathy (HCM) and is an important cause of symptoms and disease progression. The prevalence and clinical significance of exercise induced LVOTO in patients with symptomatic non-obstructive HCM is uncertain.

  17. Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease survey

    NARCIS (Netherlands)

    Elliott, Perry; Baker, Robert; Pasquale, Ferdinando; Quarta, Giovanni; Ebrahim, Hatim; Mehta, Atul B.; Hughes, Derralynn A.; Anastasakis, Aristides; Autore, Camillo; Musumeci, Maria Beatrice; Frenneaux, Michael; Gimeno, Juan; Tiina, Heliö; Kuusisto, Johanna; Aalto-Setäla, Katriina; McKeown, Pascal; Monserrat, Lorenzo; Fernandez, Xusto; Pacileo, Giuseppe; Limongelli, Giuseppe; Rapezzi, Claudio; Biagini, Elena; ten Cate, Folkert J.; Wilde, Arthur A. M.; Pinto, Yigal M.; Christiaans, Imke; Zachara, Elisabetta

    2011-01-01

    The prevalence of Anderson-Fabry disease (AFD) in patients presenting with unexplained left ventricular hypertrophy (LVH) is controversial. The aim of this study was to determine the prevalence of AFD in a large, consecutive cohort of patients with hypertrophic cardiomyopathy (HCM) using rapid

  18. Gene-specific increase in the energetic cost of contraction in hypertrophic cardiomyopathy caused by thick filament mutations

    NARCIS (Netherlands)

    Witjas-Paalberends, E.R.; Guclu, A.; Germans, T.; Knaapen, P.; Harms, H.J.; Vermeer, A.M.C.; Christiaans, I.; Wilde, A.A.M.; dos Remedios, C.; Lammertsma, A.A.; van Rossum, A.C.; Stienen, G.J.M.; van Slegtenhorst, M.; Schinkel, A.F.; Michels, M.; Ho, C.Y.; Poggesi, C.; van der Velden, J.

    2014-01-01

    Aims Disease mechanisms regarding hypertrophic cardiomyopathy (HCM) are largely unknown and disease onset varies. Sarcomere mutations might induce energy depletion for which until now there is no direct evidence at sarcomere level in human HCM. This study investigated if mutations in genes encoding

  19. A Meta-analysis on the correlation between the polymorphism of angiotensin converting enzyme gene and hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Ling CHEN

    2014-01-01

    Full Text Available Objective To systematically investigate the correlation between the polymorphism of angiotensin converting enzyme (ACE gene I/D and hypertrophic cardiomyopathy. Methods The databases, such as PubMed, Embase, OVID, Web of Science, Cochrane library, CNKI, WanFang Data and VIP, were searched to collect the studies on the correlation between ACE I/D polymorphism and hypertrophic cardiomyopathy susceptibility. Studies that met the inclusion criteria were Meta-analyzed using Stata 11.0 software. Results Fifteen articles were collected including 1114 cases and 1648 controls. The Meta-analysis indicated that there was significant correlation between the 4 models of ACE I/D polymorphism and hypertrophic cardiomyopathy susceptibility [D vs I: OR=1.49, 95%CI (1.20, 1.84; DD vs (ID+II: OR=1.56, 95%CI (1.17, 2.08; (DD+ID vs II: OR=1.76, 95%CI (1.30, 2.38; DD vs II: OR=2.20, 95%CI (1.44, 3.37]. In subgroup analysis, the significant difference existed in Asian population, but no significance was found in European population (P<0.05. Conclusions There is a positive correlation between hypertrophic cardiomyopathy and ACE I/D polymorphism in population, and D allele and DD genotype are likely to be the risk factors of hypertrophic cardiomyopathy. But such correlation does not exist in European population. DOI: 10.11855/j.issn.0577-7402.2013.12.07

  20. Mitochondrial haplogroups modify the risk of developing hypertrophic cardiomyopathy in a Danish population.

    Directory of Open Access Journals (Sweden)

    Christian M Hagen

    Full Text Available Hypertrophic cardiomyopathy (HCM is a genetic disorder caused by mutations in genes coding for proteins involved in sarcomere function. The disease is associated with mitochondrial dysfunction. Evolutionarily developed variation in mitochondrial DNA (mtDNA, defining mtDNA haplogroups and haplogroup clusters, is associated with functional differences in mitochondrial function and susceptibility to various diseases, including ischemic cardiomyopathy. We hypothesized that mtDNA haplogroups, in particular H, J and K, might modify disease susceptibility to HCM. Mitochondrial DNA, isolated from blood, was sequenced and haplogroups identified in 91 probands with HCM. The association with HCM was ascertained using two Danish control populations. Haplogroup H was more prevalent in HCM patients, 60% versus 46% (p = 0.006 and 41% (p = 0.003, in the two control populations. Haplogroup J was less prevalent, 3% vs. 12.4% (p = 0.017 and 9.1%, (p = 0.06. Likewise, the UK haplogroup cluster was less prevalent in HCM, 11% vs. 22.1% (p = 0.02 and 22.8% (p = 0.04. These results indicate that haplogroup H constitutes a susceptibility factor and that haplogroup J and haplogroup cluster UK are protective factors in the development of HCM. Thus, constitutive differences in mitochondrial function may influence the occurrence and clinical presentation of HCM. This could explain some of the phenotypic variability in HCM. The fact that haplogroup H and J are also modifying factors in ischemic cardiomyopathy suggests that mtDNA haplotypes may be of significance in determining whether a physiological hypertrophy develops into myopathy. mtDNA haplotypes may have the potential of becoming significant biomarkers in cardiomyopathy.

  1. Carriers of the hypertrophic cardiomyopathy MYBPC3 mutation are characterized by reduced myocardial efficiency in the absence of hypertrophy and microvascular dysfunction

    NARCIS (Netherlands)

    Timmer, Stefan A. J.; Germans, Tjeerd; Brouwer, Wessel P.; Lubberink, Mark; van der Velden, Jolanda; Wilde, Arthur A. M.; Christiaans, Imke; Lammertsma, Adriaan A.; Knaapen, Paul; van Rossum, Albert C.

    2011-01-01

    Next to left ventricular (LV) hypertrophy, hypertrophic cardiomyopathy (HCM) is characterized by microvascular dysfunction and reduced myocardial external efficiency (MEE). Insights into the presence of these abnormalities as early markers of disease are of clinical importance in risk

  2. An International External Validation Study of the 2014 European Society of Cardiology Guideline on Sudden Cardiac Death Prevention in Hypertrophic Cardiomyopathy (Evidence from HCM)

    NARCIS (Netherlands)

    O'Mahony, Constantinos; Jichi, Fatima; Ommen, Steve R.; Christiaans, Imke; Arbustini, Eloisa; Garcia-Pavia, Pablo; Cecchi, Franco; Olivotto, Iacopo; Kitaoka, Hiroaki; Gotsman, Israel; Carr-White, Gerald; Mogensen, Jens; Antoniades, Loizos; Mohiddin, Saidi; Maurer, Mathew S.; Tang, Hak Chiaw; Geske, Jeffrey B.; Siontis, Konstantinos C.; Mahmoud, Karim; Vermeer, Alexa; Wilde, Arthur; Favalli, Valentina; Guttmann, Oliver; Gallego-Delgado, Maria; Dominguez, Fernando; Tanini, Ilaria; Kubo, Toru; Keren, Andre; Bueser, Teofila; Waters, Sarah; Issa, Issa F.; Malcolmson, James; Burns, Thomas; Sekhri, Neha; Hoeger, Christopher W.; Omar, Rumana Z.; Elliott, Perry M.

    2017-01-01

    Background -Identification of people with hypertrophic cardiomyopathy (HCM) who are at risk of sudden cardiac death (SCD) and require prophylactic implantable cardioverter defibrillator (ICD) is challenging. In 2014, the European Society of Cardiology (ESC) proposed a new risk stratification method

  3. An International External Validation Study of the 2014 European Society of Cardiology Guideline on Sudden Cardiac Death Prevention in Hypertrophic Cardiomyopathy (Evidence from HCM)

    DEFF Research Database (Denmark)

    O'Mahony, Constantinos; Jichi, Fatima; Ommen, Steve R

    2018-01-01

    Background -Identification of people with hypertrophic cardiomyopathy (HCM) who are at risk of sudden cardiac death (SCD) and require prophylactic implantable cardioverter defibrillator (ICD) is challenging. In 2014, the European Society of Cardiology (ESC) proposed a new risk stratification method...

  4. Redistribution of myocardial perfusion during permanent dual chamber pacing in symptomatic non-obstructive hypertrophic cardiomyopathy : A quantitative positron emission tomography study

    NARCIS (Netherlands)

    Posma, JL; Blanksma, PK; vanderWall, EE

    Dual chamber pacing causes significant symptomatic improvement in many patients with hypertrophic cardiomyopathy. The mechanism behind this beneficial response is not fully understood. Positron emission tomography showed a redistribution of myocardial flow during pacing in a patient with

  5. Cardiac magnetic resonance and computed tomography in hypertrophic cardiomyopathy: an update

    Energy Technology Data Exchange (ETDEWEB)

    Oliveira, Diogo Costa Leandro de; Assunção, Fernanda Boldrini; Santos, Alair Agusto Sarmet Moreira Damas dos; Nacif, Marcelo Souto, E-mail: diogocloliveira@hotmail.com, E-mail: diogocloliveira@gmail.com [Universidade Federal Fluminense (UFF), Niterói, Rio de Janeiro, RJ (Brazil)

    2016-08-15

    Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease and represents the main cause of sudden death in young patients. Cardiac magnetic resonance (CMR) and cardiac computed tomography (CCT) are noninvasive imaging methods with high sensitivity and specificity, useful for the establishment of diagnosis and prognosis of HCM, and for the screening of patients with subclinical phenotypes. The improvement of image analysis by CMR and CCT offers the potential to promote interventions aiming at stopping the natural course of the disease. This study aims to describe the role of RCM and CCT in the diagnosis and prognosis of HCM, and how these methods can be used in the management of these patients. (author)

  6. Effects of alcohol septal ablation on coronary microvascular function and myocardial energetics in hypertrophic obstructive cardiomyopathy.

    Science.gov (United States)

    Timmer, Stefan A J; Knaapen, Paul; Germans, Tjeerd; Dijkmans, Pieter A; Lubberink, Mark; Ten Berg, Jurrien M; Ten Cate, Folkert J; Rüssel, Iris K; Götte, Marco J W; Lammertsma, Adriaan A; van Rossum, Albert C

    2011-07-01

    This study investigated the effects of alcohol septal ablation (ASA) on microcirculatory function and myocardial energetics in patients with hypertrophic cardiomyopathy (HCM) and left ventricular outflow tract (LVOT) obstruction. In 15 HCM patients who underwent ASA, echocardiography was performed before and 6 mo after the procedure to assess the LVOT gradient (LVOTG). Additionally, [(15)O]water PET was performed to obtain resting myocardial blood flow (MBF) and coronary vasodilator reserve (CVR). Changes in LV mass (LVM) and volumes were assessed by cardiovascular magnetic resonance imaging. Myocardial oxygen consumption (MVo(2)) was evaluated by [(11)C]acetate PET in a subset of seven patients to calculate myocardial external efficiency (MEE). After ASA, peak LVOTG decreased from 41 ± 32 to 23 ± 19 mmHg (P = 0.04), as well as LVM (215 ± 74 to 169 ± 63 g; P energetics.

  7. Therapeutic Hypothermia and Out-of-Hospital Cardiac Arrest in a Child with Hypertrophic Obstructive Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Nancy Spurkeland

    2015-01-01

    Full Text Available Neurologic outcomes following pediatric cardiac arrest are consistently poor. Early initiation of cardiopulmonary resuscitation has been shown to have positive effects on both survival to hospital discharge, and improved neurological outcomes after cardiac arrest. Additionally, the use of therapeutic hypothermia may improve survival in pediatric cardiac arrest patients admitted to the intensive care unit. We report a child with congenital hypertrophic obstructive cardiomyopathy and an out-of-hospital cardiac arrest, in whom the early initiation of effective prolonged cardiopulmonary resuscitation and subsequent administration of therapeutic hypothermia contributed to a positive outcome with no gross neurologic sequelae. Continuing efforts should be made to promote and employ high-quality cardiopulmonary resuscitation, which likely contributed to the positive outcome of this case. Further research will be necessary to develop and solidify national guidelines for the implementation of therapeutic hypothermia in selected subpopulations of children with OHCA.

  8. Alcohol drinking triggers acute myocardial infarction in a case of hypertrophic obstructive cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Po-Chao Hsu

    2011-05-01

    Full Text Available Alcohol ingestion–related increased left ventricular outflow tract (LVOT pressure gradient in hypertrophic obstructive cardiomyopathy (HOCM has been reported in the literature; however, acute myocardial infarction (AMI after alcohol drinking in this patient group is rarely reported. Herein, we report a 68-year-old man with chronic alcoholism suffering from AMI after alcohol drinking. Electrocardiography revealed complete left bundle branch block, and chest X-ray showed acute pulmonary edema. Intubation was done for respiratory failure and intra-aortic balloon pump was also inserted for unstable hemodynamics. However, emergent coronary angiography revealed normal coronary arteries. HOCM was diagnosed by a high pressure gradient over LVOT and systolic anterior motion of mitral valve by echocardiography. This patient became stable under intensive care and medical treatment. This case reminds physicians that alcohol ingestion might cause AMI in HOCM patients because of increased LVOT pressure gradient and decreased coronary perfusion despite normal coronary arteries.

  9. [Athlete's heart and hypertrophic cardiomyopathy: contribution on clinical and morphologic differentiation].

    Science.gov (United States)

    Bahlmann, Edda; Kuck, Karl Heinz; Nienaber, Christoph A

    2015-07-01

    Hypertrophic cardiomyopathy (HCM) is a complex genetic disorder usually diagnosed in a young adult population. The diagnosis is based on echocardiographic identification of left ventricular hypertrophy, associated with a non-dilated hyperdynamic chamber in the absence of another cardiac or systemic disorder. The differentiation between HCM and physiological left ventricular hypertrophy (athlete`s heart) is essential: HCM is the main cause of exercise-induced sudden cardiac death in the young and especially in young athletes with overlapping features in Athlete's Heart or HCM. Differentiation between physiological left ventricular hypertrophy and HCM is challenging. Echocardiography allows detailed assessment of left ventricular structure and function which is fundamental. Additional genetic studies for identification of the broad HCM phenotype can be necessary to differentiate between Athlete's Heart and HCM. © Georg Thieme Verlag KG Stuttgart · New York.

  10. [Management of refractory symptoms in hypertrophic cardiomyopathy with restrictive pathophysiology: novel perspectives for ranolazine].

    Science.gov (United States)

    Tomberli, Benedetta; Girolami, Francesca; Coppini, Raffaele; Ferrantini, Cecilia; Rossi, Alessandra; Cecchi, Franco; Olivotto, Iacopo

    2012-04-01

    The management of patients with hypertrophic cardiomyopathy (HCM) and refractory symptoms due to massive hypertrophy and severe diastolic dysfunction represents a real challenge for the clinical cardiologist. Such patients often require novel therapeutic approaches, both invasive and pharmacological, involving multidisciplinary teamwork; however, the implementation of potentially viable treatment options is hindered by lack of disease-specific evidence. We report the case of a young woman with severe HCM and restrictive physiology, who underwent extensive myectomy via the transaortic and transapical approach, followed by biventricular pacing for cardiac resynchronization, with significant but incomplete symptomatic improvement. The subsequent introduction of ranolazine, based on promising preclinical data, has led to an excellent final result. An ongoing randomized clinical trial is currently testing the efficacy of ranolazine in symptomatic HCM.

  11. Isolated papillary muscle hypertrophy: A gap in our knowledge of hypertrophic cardiomyopathy?

    Science.gov (United States)

    Ferreira, Catarina; Delgado, Carlos; Vázquez, María; Trinidad, Carmen; Vilar, Manuel

    2014-06-01

    Increased thickness of left ventricular walls is the predominant characteristic and one of the diagnostic criteria of hypertrophic cardiomyopathy (HCM). This case illustrates an uncommon but important finding of isolated hypertrophy of the papillary muscles (PMs), observed in a young woman in whom an abnormal electrocardiogram was initially detected. During the investigation isolated PM hypertrophy was identified. The structural characteristics of the PMs have received scant attention in this setting and there is little information in the literature on this entity, whose real prevalence and clinical significance remain to be determined. The available information relates solitary PM hypertrophy with an early form or a different pattern of HCM. In this case PM hypertrophy was only detected due to the finding of an abnormal electrocardiogram, which prompted further diagnostic tests and a search for possible etiologies. Copyright © 2013 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  12. Cardiac magnetic resonance and computed tomography in hypertrophic cardiomyopathy: an update

    International Nuclear Information System (INIS)

    Oliveira, Diogo Costa Leandro de; Assunção, Fernanda Boldrini; Santos, Alair Agusto Sarmet Moreira Damas dos; Nacif, Marcelo Souto

    2016-01-01

    Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease and represents the main cause of sudden death in young patients. Cardiac magnetic resonance (CMR) and cardiac computed tomography (CCT) are noninvasive imaging methods with high sensitivity and specificity, useful for the establishment of diagnosis and prognosis of HCM, and for the screening of patients with subclinical phenotypes. The improvement of image analysis by CMR and CCT offers the potential to promote interventions aiming at stopping the natural course of the disease. This study aims to describe the role of RCM and CCT in the diagnosis and prognosis of HCM, and how these methods can be used in the management of these patients. (author)

  13. MicroRNAs Based Therapy of Hypertrophic Cardiomyopathy: The Road Traveled So Far

    Directory of Open Access Journals (Sweden)

    Catarina Roma-Rodrigues

    2015-01-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is an autosomal dominant disease characterized by variable expressivity, age penetrance, and a high heterogeneity. The transcriptional profile (miRNAs, mRNAs, epigenetic modifications, and posttranslational modifications seem to be highly relevant for the onset of the disease. miRNAs, small noncoding RNAs with 22 nucleotides, have been implicated in the regulation of cardiomyocyte function, being differentially expressed in several heart diseases, including HCM. Moreover, a different miRNA expression profile in the various stages of HCM development is also observed. This review summarizes the current knowledge of the profile of miRNAs characteristic of asymptomatic to overt HCM patients, discussing alongside their potential use for diagnosis and therapy. Indeed, the stability and specificity of miRNAs make them suitable targets for use as biomarkers for diagnosis and prognosis and as therapeutical targets.

  14. Can an athlete have too much ticker? Hypertrophic cardiomyopathy in young athletes.

    Science.gov (United States)

    Fitzgerald, Nicholas M; Sherwood, Megan; Fitzgerald, Dominic A

    2012-10-01

    Sudden cardiac death (SCD) is an uncommon but devastating potential consequence of participation in competitive sport. It is seen in adolescent and young adult athletes. The most common cause of this, hypertrophic cardiomyopathy (HCM), is a genetic disorder responsible for more than a third of cases and is manageable. Screening is undertaken for HCM, using differing strategies in Europe and North America. Screening and early diagnosis have reduced the mortality rate but has come at a significant economic cost. The evidence and relevant arguments for and against screening are presented together with management strategies as reflected by an illustrative case. © 2012 The Authors. Journal of Paediatrics and Child Health © 2012 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  15. Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy.

    Science.gov (United States)

    Bos, J Martijn; Towbin, Jeffrey A; Ackerman, Michael J

    2009-07-14

    Over the last 2 decades, the pathogenic basis for the most common heritable cardiovascular disease, hypertrophic cardiomyopathy (HCM), has been investigated extensively. Affecting approximately 1 in 500 individuals, HCM is the most common cause of sudden death in young athletes. In recent years, genomic medicine has been moving from the bench to the bedside throughout all medical disciplines including cardiology. Now, genomic medicine has entered clinical practice as it pertains to the evaluation and management of patients with HCM. The continuous research and discoveries of new HCM susceptibility genes, the growing amount of data from genotype-phenotype correlation studies, and the introduction of commercially available genetic tests for HCM make it essential that the modern-day cardiologist understand the diagnostic, prognostic, and therapeutic implications of HCM genetic testing.

  16. Impaired cardiac mitochondrial oxidative phosphorylation and enhanced mitochondrial oxidative stress in feline hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Christiansen, Liselotte Bruun; Dela, Flemming; Koch, Jørgen

    2015-01-01

    Mitochondrial dysfunction and oxidative stress are important players in the development of various cardiovascular diseases, but their roles in hypertrophic cardiomyopathy (HCM) remain unknown. We examined whether mitochondrial oxidative phosphorylation (OXPHOS) capacity was impaired with enhanced...... mitochondrial oxidative stress in HCM. Cardiac and skeletal muscles were obtained from 9 domestic cats with spontaneously occurring HCM with preserved left ventricular systolic function and from 15 age-matched control cats. Mitochondrial OXPHOS capacities with nonfatty acid and fatty acid substrates...... in permeabilized fibers and isolated mitochondria were assessed using high-resolution respirometry. ROS release originating from isolated mitochondria was assessed by spectrofluorometry. Thiobarbituric acid-reactive substances were also measured as a marker of oxidative damage. Mitochondrial ADP-stimulated state 3...

  17. Effects of losartan on left ventricular hypertrophy and fibrosis in patients with nonobstructive hypertrophic cardiomyopathy.

    Science.gov (United States)

    Shimada, Yuichi J; Passeri, Jonathan J; Baggish, Aaron L; O'Callaghan, Caitlin; Lowry, Patricia A; Yannekis, Gia; Abbara, Suhny; Ghoshhajra, Brian B; Rothman, Richard D; Ho, Carolyn Y; Januzzi, James L; Seidman, Christine E; Fifer, Michael A

    2013-12-01

    The aim of this study was to evaluate the effects of losartan on left ventricular (LV) hypertrophy and fibrosis in patients with nonobstructive hypertrophic cardiomyopathy (HCM). Despite evidence that myocardial hypertrophy and fibrosis are mediated by angiotensin II and are important determinants of morbidity and mortality in patients with HCM, no prior studies have evaluated the effects of angiotensin receptor blockers on LV hypertrophy and fibrosis with cardiac magnetic resonance imaging. In double-blind fashion, 20 patients (3 women, 17 men; age: 51 ± 13 years) with HCM were randomly assigned to receive placebo (n = 9) or losartan 50 mg twice a day (n = 11) for 1 year. Cardiac magnetic resonance imaging was performed at baseline and 1 year to measure LV mass and extent of fibrosis as assessed by late gadolinium enhancement. There was a trend toward a significant difference in the percent change in LV mass (median [interquartile range]: +5% [-4% to +21%] with placebo vs. -5% [-11% to -0.9%] with losartan; p = 0.06). There was a significant difference in the percent change in extent of late gadolinium enhancement, with the placebo group experiencing a larger increase (+31% ± 26% with placebo vs. -23% ± 45% with losartan; p = 0.03). This pilot study suggests attenuation of progression of myocardial hypertrophy and fibrosis with losartan in patients with nonobstructive HCM. Confirmation of these results in a larger trial is required to confirm a place for angiotensin receptor blockers in the management of patients with HCM. (Effect of Losartan in Patients With Nonobstructive Hypertrophic Cardiomyopathy; NCT01150461). Copyright © 2013 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  18. HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY IN AN 8-MONTH OLD FEMALE INFANT SUSPECTED INFANTILE ONSET POMPE DISEASE

    Directory of Open Access Journals (Sweden)

    Made Dwi Purnami

    2015-05-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is an autosomal dominant cardiac disorder marked with muscular hypertrophy of the left ventricle, associated obstruction of left ventricular outflow. About 0.2% of all cases worldwide. The majority of patients are asymptomatic, and some present with severe activity- limiting symptoms. The diagnosis of HCM before the age of 2 years is rare and usually discovered by chance, during the investigation of a murmur. Progressive disease characterized by prominent cardiomegaly, cadiomyopathy, hepatomegaly, musle weakness or hypotonia, respiratory distress, feeding difficulties and failure to thrive as presenting sign and symptoms are often referred to infantile Pompe disease. A deficiency of of the enzyme acid alpha glucosidase disease, result in lysosomal accumulation of glycogen in heart and skeletal muscle. Cardiorespiratory failure is the cause of significant morbidity and mortality in the first year of life. We reported a rare case, 8 month-old female with frequent respiratory distress since 2 months before admission. Physical examination showed dyspnea with chest wall retraction, no cyanosis, with grade III systolic murmur at midclavicular line sinistra, ICS IV- V and floopy infant. Chest films showed   pneumonia and cardiomegaly. The echocardiogram demonstrated bi-ventricular and interventricular hypertrophy with left ventricular obstruction. Laboratory finding there was increased levels of glutamic oxaloacetic acid transferase, alanin aminotransferase, and lactate dehydrogenase. Patient was diagnosed with hypertrophic obstructive cardiomyopathy of suspected infantile onset pompe disease. Despite medical treatment with propanolol dan diuretics, there was no significant improvement and she was died after 26th days of treatment in intermediate ward. [MEDICINA 2014;45:108-14]    

  19. Pathophysiology and meaning of washout rate in hypertrophic heart. Comparison between hypertensive cardiac hypertrophy and hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Nitta, Yutaka (Kanazawa Univ. (Japan). School of Medicine)

    1989-02-01

    The present study was attempted to clarify clinically the pathogenesis of hypertensive cardiac hypertrophy (HT) and hypertrophic cardiomyopathy (HCM). The exercise thallium-201 (Tl-201) myocardial scintigraphy by bicycle ergometer was performed in three groups: control, HT and HCM. The scintigrams were evaluated by circumferential profile analysis. Furthermore, the change of Tl-201 dynamics of exercise Tl-201 scintigraphy with verapamil injection was compared with the change of coronary sinus flow after verapamil injection at cardiac catheterization. The analysis of exercise Tl-201 scintigraphy without verapamil injection showed that initial uptake was not different among the three groups, but washout rate at three hours after Tl-201 injection (WR{sub 3}) was different among the three groups. Although WR{sub 3} of HT was not different from that of control, WR{sub 3} of HCM was lower than that of control. Comparison of WR{sub 3} with and without verapamil was performed. Although WR{sub 3} with verapamil injection was equal to that without verapamil injection in control and HT, WR{sub 3} with verapamil injection decreased compared to that without verapamil injection in HCM. As an index at the time that circulation changes rapidly and on a large scale, washout rate at one hour after Tl-201 injection (WR{sub 1}) was calculated. WR{sub 1} without verapamil injection was not different in the three groups and did not differ from that with verapamil injection in each group. By intravenous administration of verapamil, coronary sinus flow (CSF) increased to the same extent in the three groups. And the increment of CSF was not different in the three groups. (J.P.N.).

  20. [Physiopathology of mitral mechanics in hypertrophic cardiomyopathy. Groupe de travail "Cardiomyopathies et insuffisance cardiaque" de la Société Française de Cardiologie].

    Science.gov (United States)

    Hagège, A; Desnos, M; Komajda, M; Dubourg, O; Isnard, R; Guicheney, P; Schwartz, K; Lévine, R A

    1994-10-01

    Ventricular hypertrophy, the only indisputable phenotypical marker of hypertrophic cardiomyopathy, is the basis of the physiopathology and treatment of the disease. Mitral valve abnormalities are usually considered to be secondary to the hypertrophy but the genesis of systolic anterior motion by the Venturi effect has been questioned by many clinical and experimental observations. Abnormalities of the mitral valve apparatus may in themselves (elongation of the valves, antero-internal malposition of the mitral papillary muscles and/or hyperlaxicity of antero-internal corhdae tendinae) create systolic anterior motion or subaortic obstruction in the absence of septal hypertrophy and/or increased subaortic flow velocities. Anatomo-clinical studies have confirmed this hypothesis: a high prevalence of mitral valve disease (increased valvular surface and length) has been found in hypertrophic cardiomyopathy. The recognition of these abnormalities is of value from the therapeutic (mitral valvuloplasty) diagnostic (in borderline cases) and genetic (when the primary nature of the abnormalities is confirmed) points of view.

  1. Virtual Cardiac Surgery Using CFD: Application to Septal Myectomy in Obstructive Hypertrophic Cardiomyopathy

    Science.gov (United States)

    Vedula, Vijay; Mittal, Rajat; Abraham, Theodore

    2011-11-01

    Obstructive hypertrophic cardiomyopathy (HOCM) is characterized by ventricular wall thickening, diastolic dysfunction, and dynamic outflow tract obstruction, all of which strongly influence the vortex dynamics and pressure distribution in the left ventricle (LV). Severe cases of HCM are usually managed through septal myectomy where the surgeon resects the hypertrophic mass. Surgeons currently try to remove as much tissue as possible in order to optimize the post surgical result. However, excessive debulking increases the chance of ventricular septal defects, bundle branch block or complete heart block, and aneurysmal septal thinning. On the other hand, insufficient tissue removal also leads to unsatisfactory outcomes in terms of reduction of outflow tract pressure gradient. Knowing how much muscle to remove and where to remove it from could reduce the likelihood of complications and suboptimal outcomes. In the present study, we employ an immersed boundary solver to model the effect of septal myectomy for ventricles with HOCM and demonstrate the potential of such an approach for surgical planning. Computational resources were provided by the National Institute of Computational Science under Tergrid grant number TG-CTS100002.

  2. Hypertrophic Cardiomyopathy from A to Z: Genetics, Pathophysiology, Imaging, and Management.

    Science.gov (United States)

    Baxi, Ameya Jagdish; Restrepo, Carlos S; Vargas, Daniel; Marmol-Velez, Alejandro; Ocazionez, Daniel; Murillo, Horacio

    2016-01-01

    Hypertrophic cardiomyopathy (HCM) is a heterogeneous group of diseases related to sarcomere gene mutations exhibiting heterogeneous phenotypes with an autosomal dominant mendelian pattern of inheritance. The disorder is characterized by diverse phenotypic expressions and variable natural progression, which may range from dyspnea and/or syncope to sudden cardiac death. It is found across all racial groups and is associated with left ventricular hypertrophy in the absence of another systemic or cardiac disease. The management of HCM is based on a thorough understanding of the underlying morphology, pathophysiology, and clinical course. Imaging findings of HCM mirror the variable expressivity and penetrance heterogeneity, with the added advantage of diagnosis even in cases where a specific mutation may not yet be found. The diagnostic information obtained from imaging varies depending on the specific stage of HCM-phenotype manifestation, including the prehypertrophic, hypertrophic, and later stages of adverse remodeling into the burned-out phase of overt heart failure. However, subtle or obvious, these imaging findings become critical components in diagnosis, management, and follow-up of HCM patients. Although diagnosis of HCM traditionally relies on clinical assessment and transthoracic echocardiography, recent studies have demonstrated increased utility of multidetector computed tomography (CT) and particularly cardiac magnetic resonance (MR) imaging in diagnosis, phenotype differentiation, therapeutic planning, and prognostication. In this article, we provide an overview of the genetics, pathophysiology, and clinical manifestations of HCM, with the spectrum of imaging findings at MR imaging and CT and their contribution in diagnosis, risk stratification, and therapy. (©)RSNA, 2016.

  3. Myocardial Fibrosis in Hypertrophic Cardiomyopathy Demonstrated by Integrated Cardiac F-18 FDG PET/MR

    Energy Technology Data Exchange (ETDEWEB)

    Kong, Eunjung; Lee, Sanghee; Cho, Ihnho [Yeungnam Univ., Daegu (Korea, Republic of)

    2013-09-15

    Hypertrophic cardiomyopathy (HCM) is a common condition defined as a diffuse or segmental left ventricular (LV) hypertrophy with a nondilated and hyperdynamic chamber as well as cardiac arrhythmias. Cardiac MR (CMR) imaging is a key modality for evaluation of HCM. In addition to the assessment of LV wall thickness, LV function and aortic flow, CMR is capable of estimation of late gadolinium enhancement (LGE) in affected myocardium which has been shown to have a direct correlation with incidence and severity of arrhythmias in HCM. In patients with HCM, LGE on CMR is presumed to represent intramyocardial fibrosis. Meanwhile, F-18 FDG myocardial PET has been sporadically studied in HCM, mostly for evaluation of the metabolic status of a hypertrophic myocardial segment, especially after interventions or to demonstrate partial myocardial fibrosis. We presented here the case of a 25-year-old male patient referred for simultaneous F-18 FDG cardiac PET/MR for the evaluation of septal hypertrophy. The PET/MR revealed myocardial fibrosis in the septum associated with FDG-defect and LGE.

  4. Myocarditis caused by Feline Immunodeficiency Virus in Five Cats with Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Rolim, V Machado; Casagrande, R Assis; Wouters, A Terezinha Barth; Driemeier, D; Pavarini, S Petinatti

    2016-01-01

    Viral infections have been implicated as the cause of cardiomyopathy in several mammalian species. This study describes hypertrophic cardiomyopathy (HCM) and myocarditis associated with feline immunodeficiency virus (FIV) infection in five cats aged between 1 and 4 years. Clinical manifestations included dyspnoea in four animals, one of which also exhibited restlessness. One animal showed only lethargy, anorexia and vomiting. Necropsy examination revealed marked cardiomegaly, marked left ventricular hypertrophy and pallor of the myocardium and epicardium in all animals. Microscopical and immunohistochemical examination showed multifocal infiltration of the myocardium with T lymphocytes and fewer macrophages, neutrophils and plasma cells. An intense immunoreaction for FIV antigen in the cytoplasm and nucleus of lymphocytes and the cytoplasm of some macrophages was observed via immunohistochemistry (IHC). IHC did not reveal the presence of antigen from feline calicivirus, coronavirus, feline leukaemia virus, feline parvovirus, Chlamydia spp. or Toxoplasma gondii. The results demonstrate the occurrence of FIV infection in inflammatory cells in the myocardium of five cats with myocarditis and HCM. Copyright © 2015 Elsevier Ltd. All rights reserved.

  5. Relation of QRS duration to mortality in a community-based cohort with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Bongioanni, Sergio; Bianchi, Francesca; Migliardi, Alessandro; Gnavi, Roberto; Pron, Paolo Giay; Casetta, Marzia; Conte, Maria Rosa

    2007-08-01

    A prolonged QRS duration on the standard electrocardiogram is associated with an increased risk of cardiovascular death in cardiomyopathies of different origin. However, the relation between QRS duration and prognosis in hypertrophic cardiomyopathy (HC) remains undefined. We assessed the relation between QRS duration and cardiovascular death in 241 consecutive patients with HC. The study cohort was divided into 2 groups according to QRS duration: or =120 ms. Of the 241 patients, 191 (79%) had a QRS duration or =120 ms. During a mean follow-up of 7.9 +/- 5.1 years, 35 patients died of cardiovascular causes related to HC. Of these 35 patients, 13 (6%) had a QRS duration or =120 ms (p or =120 ms than in those with a QRS duration or =120 ms. Multivariate analysis confirmed that a QRS duration > or =120 ms was independently associated with an increased risk of cardiovascular death (hazard ratio 3.2, p = 0.007). New York Heart Association functional class III/IV was the only other clinical variable significantly and independently associated with an increased risk of cardiovascular death. In conclusion, in patients with HC, QRS duration on standard electrocardiogram is directly related to cardiovascular mortality, and a QRS duration > or =120 ms is a strong and independent predictor of prognosis.

  6. Metabolic crosstalk between the heart and liver impacts familial hypertrophic cardiomyopathy.

    Science.gov (United States)

    Magida, Jason A; Leinwand, Leslie A

    2014-04-01

    Familial hypertrophic cardiomyopathy (HCM) is largely caused by dominant mutations in genes encoding cardiac sarcomeric proteins, and it is etiologically distinct from secondary cardiomyopathies resulting from pressure/volume overload and neurohormonal or inflammatory stimuli. Here, we demonstrate that decreased left ventricular contractile function in male, but not female, HCM mice is associated with reduced fatty acid translocase (CD36) and AMP-activated protein kinase (AMPK) activity. As a result, the levels of myocardial ATP and triglyceride (TG) content are reduced, while the levels of oleic acid and TG in circulating very low density lipoproteins (VLDLs) and liver are increased. With time, these metabolic changes culminate in enhanced glucose production in male HCM mice. Remarkably, restoration of ventricular TG and ATP deficits via AMPK agonism as well as inhibition of gluconeogenesis improves ventricular architecture and function. These data underscore the importance of the systemic effects of a primary genetic heart disease to other organs and provide insight into potentially novel therapeutic interventions for HCM.

  7. [sup 123]I-labelled BMIPP fatty acid myocardial scintigraphy in patients with hypertrophic cardiomyopathy: SPECT comparison with stress [sup 201]Tl

    Energy Technology Data Exchange (ETDEWEB)

    Taki, J.; Nakajima, K.; Bunko, H.; Shimizu, M.; Taniguchi, M.; Hisada, K. (Kanazawa Univ. (Japan). School of Medicine)

    1993-03-01

    [sup 123]I-labelled 15-(p-iodophenyl)-3-(R,S)-methylpentadecanoic acid (BMIPP) myocardial single photon emission computed tomography (SPECT) was performed in 17 patients with hypertrophic cardiomyopathy, and was compared with [sup 201]Tl exercise stress myocardial perfusion (SPECT) images. Fourteen patients showed asymmetrical hypertrophy, and three demonstrated apical hypertrophy. SPECT was performed 20 min and 3 h after injection of 111 MBq [sup 123]I-BMIPP at rest. Exercise stress [sup 201]Tl SPECT was performed at 10 min and 3 h after injection and was compared with BMIPP imaging. In 13 patients BMIPP accumulation in the hypertrophied area in the 20 min image was lower that that of 3 h [sup 201]Tl uptake. Interestingly, six patients demonstrated [sup 201]Tl redistribution in the region where the uncoupling of BMIPP uptake at 20 min and [sup 201]Tl accumulation at 3 h after exercise was observed. These findings suggest that impaired fatty acid metabolism or utilization in hypertrophic myocardium and ischaemia or impaired coronary flow reserve may be one of the causes of the abnormality of fatty acid accumulation. (Author).

  8. Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene

    Directory of Open Access Journals (Sweden)

    Lehrke Stephanie

    2008-10-01

    Full Text Available Abstract Background Mutations in MYBPC3 encoding myosin binding protein C belong to the most frequent causes of hypertrophic cardiomyopathy (HCM and may also lead to dilated cardiomyopathy (DCM. MYBPC3 mutations initially were considered to cause a benign form of HCM. The aim of this study was to examine the clinical outcome of patients and their relatives with 18 different MYBPC3 mutations. Methods 87 patients with HCM and 71 patients with DCM were screened for MYBPC3 mutations by denaturing gradient gel electrophoresis and sequencing. Close relatives of mutation carriers were genotyped for the respective mutation. Relatives with mutation were then evaluated by echocardiography and magnetic resonance imaging. A detailed family history regarding adverse clinical events was recorded. Results In 16 HCM (18.4% and two DCM (2.8% index patients a mutation was detected. Seven mutations were novel. Mutation carriers exhibited no additional mutations in genes MYH7, TNNT2, TNNI3, ACTC and TPM1. Including relatives of twelve families, a total number of 42 mutation carriers was identified of which eleven (26.2% had at least one adverse event. Considering the twelve families and six single patients with mutations, 45 individuals with cardiomyopathy and nine with borderline phenotype were identified. Among the 45 patients, 23 (51.1% suffered from an adverse event. In eleven patients of seven families an unexplained sudden death was reported at the age between 13 and 67 years. Stroke or a transient ischemic attack occurred in six patients of five families. At least one adverse event occurred in eleven of twelve families. Conclusion MYBPC3 mutations can be associated with cardiac events such as progressive heart failure, stroke and sudden death even at younger age. Therefore, patients with MYBPC3 mutations require thorough clinical risk assessment.

  9. Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy

    Directory of Open Access Journals (Sweden)

    Roma-Rodrigues C

    2014-10-01

    Full Text Available Catarina Roma-Rodrigues,1 Alexandra R Fernandes1,2 1UCIBIO, Departamento de Ciências da Vida, Faculdade de Ciências e Tecnologia da Universidade Nova de Lisboa, Campus de Caparica, Caparica, Portugal; 2Centro de Química Estrutural, Instituto Superior Técnico, Universidade de Lisboa, Lisboa, Portugal Abstract: Hypertrophic cardiomyopathy (HCM is a primary disease of the cardiac muscle that occurs mainly due to mutations (>1,400 variants in genes encoding for the cardiac sarcomere. HCM, the most common familial form of cardiomyopathy, affecting one in every 500 people in the general population, is typically inherited in an autosomal dominant pattern, and presents variable expressivity and age-related penetrance. Due to the morphological and pathological heterogeneity of the disease, the appearance and progression of symptoms is not straightforward. Most HCM patients are asymptomatic, but up to 25% develop significant symptoms, including chest pain and sudden cardiac death. Sudden cardiac death is a dramatic event, since it occurs without warning and mainly in younger people, including trained athletes. Molecular diagnosis of HCM is of the outmost importance, since it may allow detection of subjects carrying mutations on HCM-associated genes before development of clinical symptoms of HCM. However, due to the genetic heterogeneity of HCM, molecular diagnosis is difficult. Currently, there are mainly four techniques used for molecular diagnosis of HCM, including Sanger sequencing, high resolution melting, mutation detection using DNA arrays, and next-generation sequencing techniques. Application of these methods has proven successful for identification of mutations on HCM-related genes. This review summarizes the features of these technologies, highlighting their strengths and weaknesses. Furthermore, current therapeutics for HCM patients are correlated with clinically observed phenotypes and are based on the alleviation of symptoms. This is

  10. Outcomes of Alcohol Septal Ablation in Younger Patients With Obstructive Hypertrophic Cardiomyopathy

    DEFF Research Database (Denmark)

    Liebregts, Max; Faber, Lothar; Jensen, Morten K.

    2017-01-01

    Objectives The aim of this study was to describe the safety and outcomes of alcohol septal ablation (ASA) in younger patients with obstructive hypertrophic cardiomyopathy. Background The American College of Cardiology Foundation/American Heart Association guidelines reserve ASA for older patients...... predictors of mortality in young patients were age, female sex, and residual left ventricular outflow tract gradient. Additionally, young patients treated with ≥2.5 ml alcohol had a higher all-cause mortality rate (0.6% vs. 1.4% per year in patients treated with ... patients with obstructive hypertrophic cardiomyopathy was safe and effective for relief of symptoms at long-term follow-up. The authors propose that the indication for ASA can be broadened to younger patients....

  11. A truncated cardiac troponin T molecule in transgenic mice suggests multiple cellular mechanisms for familial hypertrophic cardiomyopathy.

    OpenAIRE

    Tardiff, J C; Factor, S M; Tompkins, B D; Hewett, T E; Palmer, B M; Moore, R L; Schwartz, S; Robbins, J; Leinwand, L A

    1998-01-01

    Mutations in multiple cardiac sarcomeric proteins including myosin heavy chain (MyHC) and cardiac troponin T (cTnT) cause a dominant genetic heart disease, familial hypertrophic cardiomyopathy (FHC). Patients with mutations in these two genes have quite distinct clinical characteristics. Those with MyHC mutations demonstrate more significant and uniform cardiac hypertrophy and a variable frequency of sudden death. Patients with cTnT mutations generally exhibit mild or no hypertrophy, but a hi...

  12. The effects of candesartan on left ventricular hypertrophy and function in nonobstructive hypertrophic cardiomyopathy: a pilot, randomized study.

    Science.gov (United States)

    Penicka, Martin; Gregor, Pavel; Kerekes, Roman; Marek, Dan; Curila, Karol; Krupicka, Jiri

    2009-01-01

    Hypertrophic cardiomyopathy is caused by mutations in the genes that encode sarcomeric proteins and is primarily characterized by unexplained left ventricular hypertrophy, impaired cardiac function, reduced exercise tolerance, and a relatively high incidence of sudden cardiac death, especially in the young. The extent of left ventricular hypertrophy is one of the major determinants of disease prognosis. Angiotensin II has trophic effects on the heart and plays an important role in the development of myocardial hypertrophy. Here in a double-blind, placebo-controlled, randomized study, we show that the long-term administration of the angiotensin II type 1 receptor antagonist candesartan in patients with hypertrophic cardiomyopathy was associated with the significant regression of left ventricular hypertrophy, improvement of left ventricular function, and exercise tolerance. The magnitude of the treatment effect was dependent on specific sarcomeric protein gene mutations that had the greatest responses on the carriers of ss-myosin heavy chain and cardiac myosin binding protein C gene mutations. These data indicate that modulating the role of angiotensin II in the development of hypertrophy is specific with respect to both the affected sarcomeric protein gene and the affected codon within that gene. Thus, angiotensin II type 1 receptor blockade has the potential to attenuate myocardial hypertrophy and may, therefore, provide a new treatment option to prevent sudden cardiac death in patients with hypertrophic cardiomyopathy.

  13. Late enhancement of the left ventricular myocardium in young patients with hypertrophic cardiomyopathy by electron beam computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Kurosaki, Kenichi; Yoshibayashi, Muneo; Tsukano, Shinya; Ono, Yasuo; Arakaki, Yoshio; Naito, Hiroaki; Echigo, Shigeyuki [National Cardiovascular Center, Suita, Osaka (Japan)

    2001-05-01

    In the assessment of myocardial characteristics with computed tomography, late enhancement (intense stain in delayed phase image of contrast enhancement) is an abnormal finding and thought to represent fibrotic change. The purpose of this study was to investigate the clinical importance of late enhancement in young patients with hypertrophic cardiomyopathy. Forty-five patients with hypertrophic cardiomyopathy, aged 1 to 24 years, were examined by electron beam computed tomography. We also assessed the clinical data on these patients. Late enhancement was found in 29 (64%) patients, usually as a patchy, stained area in the myocardium. In 29 patients with late enhancement, seven (24%) has syncopal episode and seven (24%) had a family history of sudden death. In contrast, none (0%) of 16 patients without late enhancement had syncopal episode nor a family history of sudden death (p<0.05). Twenty-four hour electrocardiographic monitoring was performed for 31 patients. Al patients with ventricular tachycardia were in the group with late enhancement [10/23 (43%) vs 0/8 (0%), p<0.05]. Thirty-seven patients were examined by thallium scintigraphy. The perfusion defect was more frequently found in patients with late enhancement than in patients without [14/26 (54%) vs 2/11 (18%), p<0.05]. These data suggest that late enhancement shown with electron beam computed tomography is related to syncopal episode, family history of sudden death, ventricular tachycardia, and myocardial damage in young patients with hypertrophic cardiomyopathy. (author)

  14. Late enhancement of the left ventricular myocardium in young patients with hypertrophic cardiomyopathy by electron beam computed tomography

    International Nuclear Information System (INIS)

    Kurosaki, Kenichi; Yoshibayashi, Muneo; Tsukano, Shinya; Ono, Yasuo; Arakaki, Yoshio; Naito, Hiroaki; Echigo, Shigeyuki

    2001-01-01

    In the assessment of myocardial characteristics with computed tomography, late enhancement (intense stain in delayed phase image of contrast enhancement) is an abnormal finding and thought to represent fibrotic change. The purpose of this study was to investigate the clinical importance of late enhancement in young patients with hypertrophic cardiomyopathy. Forty-five patients with hypertrophic cardiomyopathy, aged 1 to 24 years, were examined by electron beam computed tomography. We also assessed the clinical data on these patients. Late enhancement was found in 29 (64%) patients, usually as a patchy, stained area in the myocardium. In 29 patients with late enhancement, seven (24%) has syncopal episode and seven (24%) had a family history of sudden death. In contrast, none (0%) of 16 patients without late enhancement had syncopal episode nor a family history of sudden death (p<0.05). Twenty-four hour electrocardiographic monitoring was performed for 31 patients. Al patients with ventricular tachycardia were in the group with late enhancement [10/23 (43%) vs 0/8 (0%), p<0.05]. Thirty-seven patients were examined by thallium scintigraphy. The perfusion defect was more frequently found in patients with late enhancement than in patients without [14/26 (54%) vs 2/11 (18%), p<0.05]. These data suggest that late enhancement shown with electron beam computed tomography is related to syncopal episode, family history of sudden death, ventricular tachycardia, and myocardial damage in young patients with hypertrophic cardiomyopathy. (author)

  15. A standard echocardiographic and tissue Doppler study of morphological and functional findings in children with hypertrophic cardiomyopathy compared to those with left ventricular hypertrophy in the setting of Noonan and LEOPARD syndromes.

    Science.gov (United States)

    Cerrato, Fabiana; Pacileo, Giuseppe; Limongelli, Giuseppe; Gagliardi, Maria Giulia; Santoro, Giuseppe; Digilio, Maria Cristina; Di Salvo, Giovanni; Ardorisio, Rachele; Miele, Tiziana; Calabrò, Raffaele

    2008-12-01

    Several clinical and echocardiographic studies describe morphological and functional findings in patients with hypertrophic cardiomyopathy. Less is known regarding morphological and functional characteristics of the left ventricular hypertrophy found in the setting of the Noonan and LEOPARD syndromes. To compare non-invasively the morphological and functional findings potentially affecting symptoms and clinical outcome in children with hypertrophic cardiomyopathy as opposed to Noonan and LEOPARD syndromes. We studied by echo-Doppler 62 children with left ventricular hypertrophy, dividing them into two subgroups matched for age and body surface area. The first group, of 45 patients with a mean age of 7.5 +/- 5.2 years and body surface area of 0.9 +/- 0.44 mq, had idiopathic hypertrophic cardiomyopathy. The second group, of 17 patients, all had left ventricular hypertrophy in the setting of Noonan or LEOPARD syndromes. Their mean age was 6.6 +/- 5 years, and body surface area was 0.8 +/- 0.36 mq. In all patients, we assessed the left ventricular maximal mural thickness, expressed as a Z-score, along with any obstructions in the left and right ventricular outflow tracts. In addition, to define left ventricular diastolic function, we used mitral flow and pulsed Tissue Doppler to record the Ea, Aa, Ea/Aa, E/Ea indexes in the apical 4-chamber view at the lateral corner of the mitral annulus. We also measured the diameters of the coronary arteries in the diastolic frame. Compared to those with hypertrophic cardiomyopathy, those with syndromic left ventricular hypertrophy showed a significantly increased Z-score for mural thickness, and a higher prevalence of obstruction in the left ventricular outflow tract. In addition, the patients with Noonan or LEOPARD syndromes showed a significantly decrease of Ea and increase of Aa, with a decreased Ea/Aa ratio, all suggestive of left ventricular abnormal relaxation. Moreover, the E/Ea ratio was significantly increased in these

  16. Canopy 2 attenuates the transition from compensatory hypertrophy to dilated heart failure in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Guo, Jian; Mihic, Anton; Wu, Jun; Zhang, Yuemei; Singh, Kaustabh; Dhingra, Sanjiv; Weisel, Richard D; Li, Ren-Ke

    2015-10-01

    A mismatch between adequate angiogenesis and overgrowth of myocytes may be a critical mechanism controlling the transition from adaptive hypertrophy to heart failure. Canopy 2 (CNPY2) was recently identified as a secreted, HIF-1α-regulated angiogenic growth factor. As angiogenic factors play important roles in the development of myocardial hypertrophy, we investigated the role of CNPY2 in molecular and functional changes during development of chronic heart failure using cardiac-specific transgenic (TG) mice that overexpress human CNPY2. We generated TG mice that constitutively express CNPY2 in the myocardium. Cardiomyopathy was induced in TG and wild-type (WT) mice by transverse aortic constriction (TAC). WT mice developed significant ventricular hypertrophy at 4 weeks and severe dilatation and heart failure at 12 weeks after TAC. However, TG mice preserved much better cardiac structure and function, with less severe ventricular dilatation and markedly reduced cardiac apoptosis and fibrosis following TAC. Excess CNPY2 in TG mice prevented significant loss of vasculature up to 12 weeks after TAC injury, resulting in a better local myocardial environment that facilitated myocyte survival and prevented excessive matrix remodelling compared with WT mice. TG mice had less accumulation of endogenous tumor suppressor p53 after TAC, indicating intrinsic activation of the p53-mediated repression of HIF-1α, and Cnpy2 was diminished in TG mice compared with WT controls. Our study showed a correlation between downregulation of endogenous mouse Cnpy2 and p53-mediated HIF-1α inhibition during late-stage hypertrophic development. Additional CNPY2 attenuated the transition from compensatory hypertrophic response to maladaptive ventricular dilatation and heart failure. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2015. For permissions please email: journals.permissions@oup.com.

  17. [Morphometric features of cardiomyocytes in the ventricular septum of patients with hypertrophic cardiomyopathy].

    Science.gov (United States)

    Egorova, I F; Serov, R A; Bockeria, L A

    2017-01-01

    to determine the diameter and length of cardiomyocytes (CMC) in the ventricular septum (VS) of patients with hypertrophic cardiomyopathy (HCM) and to analyze correlations of a change in CMC sizes with the anatomical features of the heart in the patients. Longitudinal sections of intraoperative myocardial biopsy specimens taken from 23 patients aged 15-59 years with HCM were treated using immunohistochemical detection of connexin 43; the sizes of 50 CMCs were measured; a 4-point scale was used to assess the degree of myofibril loss (MFL) in these cells. The change in the diameter and length of the cells during their rearrangement as MFL gradually increased, as well as the correlations of CMC sizes with the anatomical parameters of the heart were analyzed. VS CMCs from the patients with HCM were hypertrophic and were in the early stages of rearrangement accompanied by MFL. During this rearrangement, CMCs in some patients grew in length and, less frequently, diameter. The average diameter of CMCs was directly correlated with VS thickness. The average length of the cells in the CMC population with a considerable degree of MFL also directly correlated with VS thickness. The findings could suggest that the factor raising VS thickness in HCM may be an increase in not only diameter of CMCs, but also in length of CMCs, which had impaired orientation in the VS - which are oriented perpendicular to their normal tangential position. The presence of such CMCs in the VS myocardium in patients with HCM can be discussed due to the typical large number of myocardial areas with the impaired parallel arrangement of CMCs.

  18. Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation.

    Science.gov (United States)

    Adalsteinsdottir, Berglind; Teekakirikul, Polakit; Maron, Barry J; Burke, Michael A; Gudbjartsson, Daniel F; Holm, Hilma; Stefansson, Kari; DePalma, Steven R; Mazaika, Erica; McDonough, Barbara; Danielsen, Ragnar; Seidman, Jonathan G; Seidman, Christine E; Gunnarsson, Gunnar T

    2014-09-30

    The geographic isolation and homogeneous population of Iceland are ideally suited to ascertain clinical and genetic characteristics of hypertrophic cardiomyopathy (HCM) at the population level. Medical records and cardiac imaging studies obtained between 1997 and 2010 were reviewed to identify Icelandic patients with HCM. Surviving patients were recruited for clinical and genetic studies. A previously identified Icelandic mutation, MYBPC3 c.927-2A>G, was genotyped, and mutation-negative samples were sequenced for HCM genes and other hypertrophic genes. Record review identified 180 patients with HCM. Genetic analyses of 151 patients defined pathogenic mutations in 101 (67%), including MYBPC3 c.927-2A>G (88 patients, 58%), 4 other MYBPC3 or MYH7 mutations (5 patients, 3.3%), and 2 GLA mutations (8 patients, 5.3%). Haplotype and genetic genealogical data defined MYBPC3 c.927-2A>G as a founder mutation, introduced into the Icelandic population in the 15th century, with a current population prevalence of 0.36%. MYBPC3 c.927-2A>G mutation carriers exhibited phenotypic diversity but were younger at diagnosis (42 versus 49 years; P=0.001) and sustained more adverse events (15% versus 2%; P=0.02) than mutation-negative patients. All-cause mortality for patients with HCM was similar to that of an age-matched Icelandic population (hazard ratio, 0.98; P=0.9). HCM-related mortality (0.78%/y) occurred at a mean age of 68 compared with 81 years for non-HCM-related mortality (P=0.02). A founder MYBPC3 mutation that arose >550 years ago is the predominant cause of HCM in Iceland. The MYBPC3 c.927-2A>G mutation is associated with low adverse event rates but earlier cardiovascular mortality, illustrating the impact of genotype on outcomes in HCM. © 2014 American Heart Association, Inc.

  19. Cardiac troponin and tropomyosin: structural and cellular perspectives to unveil the Hypertrophic Cardiomyopathy phenotype

    Directory of Open Access Journals (Sweden)

    Mayra de A. Marques

    2016-09-01

    Full Text Available Inherited myopathies affect both skeletal and cardiac muscle and are commonly associated with genetic dysfunctions, leading to the production of anomalous proteins. In cardiomyopathies, mutations frequently occur in sarcomeric genes, but the cause-effect scenario between genetic alterations and pathological processes remains elusive. Hypertrophic cardiomyopathy (HCM was the first cardiac disease associated with a genetic background. Since the discovery of the first mutation in the β-myosin heavy chain, more than 1,400 new mutations in 11 sarcomeric genes have been reported, awarding HCM the title of the disease of the sarcomere. The most common macroscopic phenotypes are left ventricle and interventricular septal thickening, but because the clinical profile of this disease is quite heterogeneous, these phenotypes are not suitable for an accurate diagnosis. The development of genomic approaches for clinical investigation allows for diagnostic progress and understanding at the molecular level. Meanwhile, the lack of accurate in vivo models to better comprehend the cellular events triggered by this pathology has become a challenge. Notwithstanding, the imbalance of Ca2+ concentrations, altered signaling pathways, induction of apoptotic factors, and heart remodeling leading to abnormal anatomy have already been reported. Of note, a misbalance of signaling biomolecules, such as kinases and tumor suppressors (e.g., Akt and p53, seems to participate in apoptotic and fibrotic events. In HCM, structural and cellular information about defective sarcomeric proteins and their altered interactome is emerging but still represents a bottleneck for developing new concepts in basic research and for future therapeutic interventions. This review focuses on the structural and cellular alterations triggered by HCM-causing mutations in troponin and tropomyosin proteins and how structural biology can aid in the discovery of new platforms for therapeutics. We

  20. Cardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy Phenotype.

    Science.gov (United States)

    Marques, Mayra de A; de Oliveira, Guilherme A P

    2016-01-01

    Inherited myopathies affect both skeletal and cardiac muscle and are commonly associated with genetic dysfunctions, leading to the production of anomalous proteins. In cardiomyopathies, mutations frequently occur in sarcomeric genes, but the cause-effect scenario between genetic alterations and pathological processes remains elusive. Hypertrophic cardiomyopathy (HCM) was the first cardiac disease associated with a genetic background. Since the discovery of the first mutation in the β-myosin heavy chain, more than 1400 new mutations in 11 sarcomeric genes have been reported, awarding HCM the title of the "disease of the sarcomere." The most common macroscopic phenotypes are left ventricle and interventricular septal thickening, but because the clinical profile of this disease is quite heterogeneous, these phenotypes are not suitable for an accurate diagnosis. The development of genomic approaches for clinical investigation allows for diagnostic progress and understanding at the molecular level. Meanwhile, the lack of accurate in vivo models to better comprehend the cellular events triggered by this pathology has become a challenge. Notwithstanding, the imbalance of Ca 2+ concentrations, altered signaling pathways, induction of apoptotic factors, and heart remodeling leading to abnormal anatomy have already been reported. Of note, a misbalance of signaling biomolecules, such as kinases and tumor suppressors (e.g., Akt and p53), seems to participate in apoptotic and fibrotic events. In HCM, structural and cellular information about defective sarcomeric proteins and their altered interactome is emerging but still represents a bottleneck for developing new concepts in basic research and for future therapeutic interventions. This review focuses on the structural and cellular alterations triggered by HCM-causing mutations in troponin and tropomyosin proteins and how structural biology can aid in the discovery of new platforms for therapeutics. We highlight the importance

  1. Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy

    Science.gov (United States)

    Roma-Rodrigues, Catarina; Fernandes, Alexandra R

    2014-01-01

    Hypertrophic cardiomyopathy (HCM) is a primary disease of the cardiac muscle that occurs mainly due to mutations (>1,400 variants) in genes encoding for the cardiac sarcomere. HCM, the most common familial form of cardiomyopathy, affecting one in every 500 people in the general population, is typically inherited in an autosomal dominant pattern, and presents variable expressivity and age-related penetrance. Due to the morphological and pathological heterogeneity of the disease, the appearance and progression of symptoms is not straightforward. Most HCM patients are asymptomatic, but up to 25% develop significant symptoms, including chest pain and sudden cardiac death. Sudden cardiac death is a dramatic event, since it occurs without warning and mainly in younger people, including trained athletes. Molecular diagnosis of HCM is of the outmost importance, since it may allow detection of subjects carrying mutations on HCM-associated genes before development of clinical symptoms of HCM. However, due to the genetic heterogeneity of HCM, molecular diagnosis is difficult. Currently, there are mainly four techniques used for molecular diagnosis of HCM, including Sanger sequencing, high resolution melting, mutation detection using DNA arrays, and next-generation sequencing techniques. Application of these methods has proven successful for identification of mutations on HCM-related genes. This review summarizes the features of these technologies, highlighting their strengths and weaknesses. Furthermore, current therapeutics for HCM patients are correlated with clinically observed phenotypes and are based on the alleviation of symptoms. This is mainly due to insufficient knowledge on the mechanisms involved in the onset of HCM. Tissue engineering alongside regenerative medicine coupled with nanotherapeutics may allow fulfillment of those gaps, together with screening of novel therapeutic drugs and target delivery systems. PMID:25328416

  2. [Sudden cardiac death in familial hypertrophic cardiomyopathy. Identification of high-risk patients].

    Science.gov (United States)

    Pellnitz, C; Geier, C; Perrot, A; Dietz, R; Osterziel, K J; Haverkamp, W

    2005-05-06

    Hypertrophic cardiomyopathy (HCM) is a relatively frequent, genetically determined primary cardiomyopathy, characterized by most often asymmetric hypertrophy of the ventricular septum with or without systolic obstruction of the left ventricular outflow tract. HCM is a genetically heterogeneous disease, with 12 different disease-causing genes beeing indentified to date. Histologically the disease is characterized by hypertophy and disarray of myofibrils as well as by an increase in myocardial fibrosis. Clinically, these changes may lead to palpitations, dyspnoe on exertion, and/or angina pectoris. However, they also lead to an increased propensity to the development of severe ventricular tachyarrhythmias and sudden cardiac death. The incidence of sudden death is significantly increased in HCM, particularly in affected young subjects. Risk stratification in HCM should include a complete clinical-cardiological evaluation that should also consider new diagnostic features, e. g. MR imaging. Major risk factors for sudden cardiac death include a survived cardiac arrest (ventricular fibrillation), non-sustained and sustained ventricular tachycardia, a history of premature familial sudden death, unexplained syncope, an abnormal blood pressure response on exercise, and left ventricular thickness greater than or equal to 3 cm. Ideally, risk stratification should also include genetic testing, since some gene mutations seem to be associated with a higher risk for sudden cardiac death than others. However, genetic testing in HCM in not yet available on a routine basis. The implantation of a cardioverter/defibrillator is first-line therapy in patients with documented ventricular tachycardia/fibrillation or patients who have survived sudden cardiac death. These devices also play an important role in the primary prevention of sudden cardiac death in HCM. Algorithms and scores are available to estimate the risk of sudden death, however, the decision to implant a cardioverter

  3. Hypertrophic Cardiomyopathy: A Vicious Cycle Triggered by Sarcomere Mutations and Secondary Disease Hits.

    Science.gov (United States)

    Wijnker, Paul J M; Sequeira, Vasco; Kuster, Diederik W D; Velden, Jolanda van der

    2018-04-11

    Hypertrophic cardiomyopathy (HCM) is a cardiac genetic disease characterized by left ventricular hypertrophy, diastolic dysfunction, and myocardial disarray. Disease onset occurs between 20 and 50 years of age, thus affecting patients in the prime of their life. HCM is caused by mutations in sarcomere proteins, the contractile building blocks of the heart. Despite increased knowledge of causal mutations, the exact path from genetic defect leading to cardiomyopathy is complex and involves additional disease hits. Recent Advances: Laboratory-based studies indicate that HCM development not only depends on the primary sarcomere impairment caused by the mutation but also on secondary disease-related alterations in the heart. Here we propose a vicious mutation-induced disease cycle, in which a mutation-induced energy depletion alters cellular metabolism with increased mitochondrial work, which triggers secondary disease modifiers that will worsen disease and ultimately lead to end-stage HCM. Evidence shows excessive cellular reactive oxygen species (ROS) in HCM patients and HCM animal models. Oxidative stress markers are increased in the heart (oxidized proteins, DNA, and lipids) and serum of HCM patients. In addition, increased mitochondrial ROS production and changes in endogenous antioxidants are reported in HCM. Mutant sarcomeric protein may drive excessive levels of cardiac ROS via changes in cardiac efficiency and metabolism, mitochondrial activation and/or dysfunction, impaired protein quality control, and microvascular dysfunction. Interventions restoring metabolism, mitochondrial function, and improved ROS balance may be promising therapeutic approaches. We discuss the effects of current HCM pharmacological therapies and potential future therapies to prevent and reverse HCM. Antioxid. Redox Signal. 00, 000-000.

  4. Abrupt Onset of Refractory Heart Failure Associated With Light-Chain Amyloidosis in Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Tomberli, Benedetta; Cappelli, Francesco; Perfetto, Federico; Olivotto, Iacopo

    2017-01-01

    The natural history of hypertrophic cardiomyopathy (HCM) is complex and may include progressive heart failure and severe left ventricular dysfunction. When disease progression is abrupt, however, other coexisting diseases should be ruled out. This may be difficult in the case of amyloidosis, which classically mimics HCM. We present an example of severe clinical deterioration in a patient with HCM due to superimposed amyloid light-chain amyloidosis. A man in his 70s with a longstanding history of genetically confirmed HCM presented with rapid development of congestive heart failure over 6 months, in sharp contrast to a previously stable, asymptomatic clinical course. He was diagnosed as having the illness in his late 40s after a resuscitated cardiac arrest and regularly followed up on a yearly basis. His most recent electrocardiogram was profoundly changed from previous tracings, with marked and diffuse voltage reduction (QS in V1-V3) and inferolateral T-wave inversion. The echocardiogram showed an abrupt increase in the severity of left ventricular (LV) hypertrophy, with a concentric rather than asymmetric appearance, granular sparkling of the myocardium, biatrial enlargement, thickening of the mitral valve leaflets, and interatrial septum and mild pericardial effusion. Severe LV dysfunction with a restrictive LV filling pattern was evident, which is associated with LV outflow tract obstruction loss and right ventricle systolic impairment. Following hospital admission, multiple myeloma was diagnosed and confirmed by bone marrow biopsy and aspiration. Furthermore, abdominal fat aspiration showed amyloid deposition and confirmed the diagnosis of amyloid light-chain amyloidosis. Electrocardiograms, echocardiographic images, and videos presented in this report describe the abrupt and marked evolution of a sarcomeric to infiltrative cardiomyopathy, leading to an ominous outcome in which the patient died despite specific treatment. While progression to the end

  5. Echocardiography as a Screening Test for Myocardial Scarring in Children with Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Gregory Compton

    2016-01-01

    Full Text Available Introduction. Hypertrophic cardiomyopathy (HCM is burdened with morbidity and mortality including tachyarrhythmias and sudden cardiac death. These complications are attributed in part to the formation of proarrhythmic scars in the myocardium. The presence of extensive LGE is a risk factor for adverse outcomes in HCM. Late gadolinium enhancement (LGE cardiac magnetic resonance imaging (cMRI is the standard for the noninvasive evaluation of myocardial scars. However, echocardiography represents an attractive screening tool for myocardial scarring. The aim of this study was to compare the suitability of echocardiography to detect myocardial scars to the standard of cMRI-LGE. Methods. The cMRI studies and echocardiograms from 56 consecutive children with HCM were independently evaluated for the presence of cMRI-LGE and echocardiographic evidence of scarring by expert readers. Results. Echocardiography had a high sensitivity (93% and negative predictive value (94% in comparison to LGE. The false positive rate was high, leading to a low specificity (37% and a low positive predictive value (35%. Conclusions. Given the poor specificity and positive predictive value, echocardiography is not a suitable screening test for the presence of myocardial scarring in children with HCM. However, children without echocardiographic evidence of myocardial scarring may not need to undergo cardiac magnetic resonance imaging to “rule in” LGE.

  6. Coexistent coronary artery disease or myocardial bridging in patients with hypertrophic cardiomyopathy using coronary CT angiography

    International Nuclear Information System (INIS)

    Lee, Jae Hwan; Chun, Eun Ju; Kim, Yeo Koon; Yoo, Jin Young; Choi, Sang Il; Choi, Dong Ju

    2015-01-01

    To evaluate the prevalence of coexistent coronary artery disease (CAD) or myocardial bridging (MB) in patients with hypertrophic cardiomyopathy (HCM) using coronary CT angiography (CCTA) and assess the role of CCTA. The prevalence of obstructive CAD (> 50% luminal reduction) and MB (partial and full encasement) were assessed in 150 patients with HCM diagnosed by clinical findings, electrocardiography, and echocardiography of 19588 consecutive patients who underwent CCTA for suspected CAD. The overall feasibility of coronary artery visualization was 98.9% with CCTA. In patients with HCM, the prevalence of obstructive CAD and MB (14.7% partial and 28.0% full encasement) were 23.3% and 42.7%, respectively. Age, hypertension, family history of premature CAD, Framingham risk score and severe chest pain were associated with CAD, whereas male gender and septal type were associated with MB (all p < 0.05). In comparison to invasive coronary angiography (n = 37), the diagnostic accuracy of CCTA for the detection of CAD and full encasement MB was 89.2% and 86.5%, respectively. One-quarter of patients with HCM had coexistent obstructive CAD or full encasement MB. CCTA can be a feasible and accurate noninvasive imaging modality for the detection of CAD and MB in patients with HCM

  7. Myocardial Structural Alteration and Systolic Dysfunction in Preclinical Hypertrophic Cardiomyopathy Mutation Carriers

    Science.gov (United States)

    Yiu, Kai Hang; Atsma, Douwe E.; Delgado, Victoria; Ng, Arnold C. T.; Witkowski, Tomasz G.; Ewe, See Hooi; Auger, Dominique; Holman, Eduard R.; van Mil, Anneke M.; Breuning, Martijn H.; Tse, Hung Fat; Bax, Jeroen J.; Schalij, Martin J.; Marsan, Nina Ajmone

    2012-01-01

    Background To evaluate the presence of myocardial structural alterations and subtle myocardial dysfunction during familial screening in asymptomatic mutation carriers without hypertrophic cardiomyopathy (HCM) phenotype. Methods and Findings Sixteen HCM families with pathogenic mutation were studied and 46 patients with phenotype expression (Mut+/Phen+) and 47 patients without phenotype expression (Mut+/Phen−) were observed. Twenty-five control subjects, matched with the Mut+/Phen− group, were recruited for comparison. Echocardiography was performed to evaluate conventional parameters, myocardial structural alteration by calibrated integrated backscatter (cIBS) and global and segmental longitudinal strain by speckle tracking analysis. All 3 groups had similar left ventricular dimensions and ejection fraction. Basal anteroseptal cIBS was the highest in Mut+/Phen+ patients (−14.0±4.6 dB, p−19.0 dB basal anteroseptal cIBS or >−18.0% basal anteroseptal longitudinal strain had a sensitivity of 98% and a specificity of 72% in differentiating Mut+/Phen− group from controls. Conclusion The use of cIBS and segmental longitudinal strain can differentiate HCM Mut+/Phen− patients from controls with important clinical implications for the family screening and follow-up of these patients. PMID:22574137

  8. Electrocardiographic abnormalities in elite high school athletes: comparison to adolescent hypertrophic cardiomyopathy.

    Science.gov (United States)

    Thompson, Alex J; Cannon, Bryan C; Wackel, Philip L; Horner, Justin M; Ackerman, Michael J; O'Leary, Patrick W; Eidem, Benjamin W; Johnson, Jonathan N

    2016-01-01

    In athletes, ECG changes from physiological cardiac remodelling are common but can overlap with findings from a pathological disorder. We compared ECG findings in a group of elite high school athletes to a cohort of adolescents with hypertrophic cardiomyopathy (HCM). We prospectively performed 15-lead ECGs and echocardiograms in 147 elite high school athletes. Student-athlete ECGs were compared in blinded fashion to ECGs of 148 adolescents with HCM of similar age and ethnicity. Standard ECG hypertrophy criteria and established expert opinion guidelines (European Society of Cardiology, ESC and Seattle criteria) were analysed. All student-athletes had normal echocardiograms. Overall, 77/147 (52%) of student-athletes met standard ECG criteria for ventricular hypertrophy compared to 126/148 (85%) adolescents with HCM (padolescents with HCM who had pathological Q-waves, T-wave inversion and/or ST-segment depression compared to 1/147 (1%) athletes (padolescents with HCM from normals. Both ESC and Seattle criteria successfully stratified the student-athlete and HCM cohorts, however each had a false-negative rate >10% for the HCM cohort. The Seattle criteria demonstrated a significantly lower false-positive rate (1%) than the ESC criteria (24%). Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  9. Alcohol septal ablation for obstructive hypertrophic cardiomyopathy: outcomes in young, middle-aged, and elderly patients.

    Science.gov (United States)

    Leonardi, Robert A; Townsend, Jacob C; Patel, Chetan A; Wolf, Bethany J; Todoran, Thomas M; Powers, Eric R; Steinberg, Daniel H; Fernandes, Valerian L; Nielsen, Christopher D

    2013-11-01

    We compared the efficacy and safety of alcohol septal ablation (ASA) for obstructive hypertrophic cardiomyopathy (HCM) in young, middle-aged, and elderly patients. Intersociety guidelines suggest based on limited evidence that young patients with medically refractory symptoms of obstructive HCM should undergo surgical myectomy while elderly patients may be more appropriate for ASA. Data for 360 patients undergoing 389 ASAs were prospectively collected and retrospectively analyzed according to age. Young (elderly (≥65 years) patients comprised 28, 40, and 32% of the study population, respectively. Young patients had thicker left ventricular septal walls at baseline, and elderly patients had more comorbidity and dyspnea. Resting, mean left ventricular outflow tract gradients (LVOTGs) were similar across the age groups at baseline (62, 66, and 68 mm Hg, respectively; P = NS for all comparisons). LVOTGs and dyspnea were significantly and similarly improved in all age groups immediately after ASA and through 12 months of follow-up (P elderly patients (9.1 and 6.3% vs. 20.8%, respectively; P ≤ 0.016 for elderly vs. others). Mortality rates for young and middle-aged patients were lower than for elderly patients, but the differences were not statistically significant. Patients undergoing ASA had significant and similar improvements in LVOTGs and symptoms regardless of age. Procedural complications were increased in elderly patients, who had numerically but not statistically significantly higher mortality rates. Copyright © 2012 Wiley Periodicals, Inc.

  10. Coexistent coronary artery disease or myocardial bridging in patients with hypertrophic cardiomyopathy using coronary CT angiography

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jae Hwan; Chun, Eun Ju; Kim, Yeo Koon; Yoo, Jin Young; Choi, Sang Il; Choi, Dong Ju [Seoul National University Bundang Hospital, Seongnam (Korea, Republic of)

    2015-07-15

    To evaluate the prevalence of coexistent coronary artery disease (CAD) or myocardial bridging (MB) in patients with hypertrophic cardiomyopathy (HCM) using coronary CT angiography (CCTA) and assess the role of CCTA. The prevalence of obstructive CAD (> 50% luminal reduction) and MB (partial and full encasement) were assessed in 150 patients with HCM diagnosed by clinical findings, electrocardiography, and echocardiography of 19588 consecutive patients who underwent CCTA for suspected CAD. The overall feasibility of coronary artery visualization was 98.9% with CCTA. In patients with HCM, the prevalence of obstructive CAD and MB (14.7% partial and 28.0% full encasement) were 23.3% and 42.7%, respectively. Age, hypertension, family history of premature CAD, Framingham risk score and severe chest pain were associated with CAD, whereas male gender and septal type were associated with MB (all p < 0.05). In comparison to invasive coronary angiography (n = 37), the diagnostic accuracy of CCTA for the detection of CAD and full encasement MB was 89.2% and 86.5%, respectively. One-quarter of patients with HCM had coexistent obstructive CAD or full encasement MB. CCTA can be a feasible and accurate noninvasive imaging modality for the detection of CAD and MB in patients with HCM.

  11. Ventricular evoked response in patients with hypertrophic obstructive cardiomyopathy treated with DDD pacing

    Directory of Open Access Journals (Sweden)

    João Ricardo M. Sant'Anna

    1999-08-01

    Full Text Available OBJECTIVE: To assess the changes in ventricular evoked responses (VER produced by the decrease in left ventricular outflow tract gradient (LVOTG in patients with hypertrophic obstructive cardiomyopathy (HOCM treated with dual-chamber (DDD pacing. METHODS: A pulse generator Physios CTM (Biotronik, Germany was implanted in 9 patients with severe drug-refractory HOCM. After implantation, the following conditions were assessed: 1 Baseline evaluation: different AV delay (ranging from 150ms to 50 ms were sequentially programmed during 5 to 10 minutes, and the LVOTG (as determined by Doppler echocardiography and VER recorded; 2 standard evaluation, when the best AV delay (resulting in the lowest LVOTG programmed at the initial evaluation was maintained so that its effect on VER and LVOTG could be assessed during each chronic pacing evaluation. RESULTS: LVOTG decreased after DDD pacing, with a mean value of 59 ± 24 mmHg after dual chamber pacemaker, which was significantly less than the gradient before pacing (98 + 22mmHg. An AV delay >100ms produced a significantly lower decrease in VER depolarization duration (VER DD when compared to an AV delay <=100ms. Linear regression analyses showed a significant correlation between the LVOTG values and the magnitude of VER (r=0.69; p<0.05 in the 9 studied patients. CONCLUSION: The telemetry obtained intramyocardial electrogram is a sensitive means to assess left ventricular dynamics in patients with HOCM treated with DDD pacing.

  12. Long-Term Prognosis after Myectomy in Hypertrophic Obstructive Cardiomyopathy with Severe Left Ventricular Hypertrophy.

    Science.gov (United States)

    An, Shuoyan; Fan, Chaomei; Yang, Yinjian; Hang, Fei; Wang, Zhimin; Zhang, Yuhui; Zhang, Jian

    2018-01-01

    Patients with hypertrophic obstructive cardiomyopathy (HOCM) and severe left ventricular hypertrophy (maximal left ventricular wall thickness ≥30 mm) are at high risk of sudden cardiac death (SCD). In this study, we aimed to determine whether HOCM patients with severe hypertrophy had a lower incidence of SCD after myectomy. HOCM patients with severe hypertrophy were consecutively enrolled from Fuwai Hospital in China between 2000 and 2013. Long-term outcomes were retrospectively compared between the 2 groups, namely the myectomy group and medical group. A total of 244 patients (118 in the myectomy group and 126 in the medical group) were involved. The mean follow-up durations for the myectomy and medical groups were 5.07 ± 3.73 and 6.23 ± 4.15 years, respectively. During the follow-up period, the annual cardiovascular mortality rate was 0.84% in the myectomy group and 2.04% in the medical group (p = 0.041). The annual SCD rate was 0.33% in the myectomy group and 1.40% in the medical group (p = 0.040). Multivariate Cox regression analysis showed that myectomy was independently associated with lower rates of cardiovascular death and SCD. In HOCM patients with severe hypertrophy, those that underwent myectomy had a lower risk of cardiovascular death and SCD than those treated with medicines only. © 2018 S. Karger AG, Basel.

  13. Myocardial deformation from tagged MRI in hypertrophic cardiomyopathy using an efficient registration strategy

    Science.gov (United States)

    Piella, G.; De Craene, M.; Oubel, E.; Larrabide, I.; Huguet, M.; Bijnens, B. H.; Frangi, A. F.

    2009-02-01

    This paper combines different parallelization strategies for speeding up motion and deformation computation by non-rigid registration of a sequence of images. The registration is performed in a two-level acceleration approach: (1) parallelization of each registration process using MPI and/or threads, and (2) distribution of the sequential registrations over a cluster. On a 24-node double quad-core Intel Xeon (2.66 GHz CPU, 16 GB RAM) cluster, the method is demonstrated to efficiently compute the deformation of a cardiac sequence reducing the computation time from more than 3 hours to a couple of minutes (for low downsampled images). It is shown that the distribution of the sequential registrations over the cluster together with the parallelization of each pairwise registration by multithreading lowers the computation time towards values compatible with clinical requirements (a few minutes per patient). The combination of MPI and multithreading is only advantageous for large input data sizes. Performances are assessed for the specific scenario of aligning cardiac sequences of taggedMagnetic Resonance (tMR) images, with the aim of comparing strain in healthy subjects and hypertrophic cardiomyopathy (HCM) patients. In particular, we compared the distribution of systolic strain in both populations. On average, HCM patients showed lower average values of strain with larger deviation due to the coexistence of regions with impaired deformation and regions with normal deformation.

  14. Computational Modeling of Blood Flow and Valve Dynamics in Hearts with Hypertrophic Cardiomyopathy

    Science.gov (United States)

    Zheng, Xudong; Mittal, Rajat; Abraham, Theodore; Pinheiro, Aurelio

    2010-11-01

    Hypertrophic Cardiomyopathy (HCM) is a cardiovascular disease manifested by the thickening of the ventricular wall and often leads to a partial obstruction to the blood flow out of the left ventricle. HCM is recognized as one of the most common causes of sudden cardiac death in athletes. In a heart with HCM, the hypertrophy usually narrows the blood flow pathway to the aorta and produces a low pressure zone between the mitral valve and the hypertrophy during systole. This low pressure can suck the mitral valve leaflet back and completely block the blood flow into the aorta. In the current study, a sharp interface immersed boundary method flow solver is employed to study the hemodynamics and valve dynamics inside a heart with HCM. The three-dimensional motion and configuration of the left ventricle including mitral valve leaflets and aortic valves are reconstructed based on echo-cardio data sets. The mechanisms of aortic obstruction associated with HCM are investigated. The long term objective of this study is to develop a computational tool to aid in the assessment and surgical management of HCM.

  15. Multiple Sclerosis Presents with Psychotic Symptoms and Coexists with Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Muhammed Emin Özcan

    2014-01-01

    Full Text Available Multiple sclerosis (MS is a demyelinating disease of the central nervous system. Psychiatric symptoms are not infrequent during MS, yet onset of MS with psychosis is rarely encountered. A 27-year-old Caucasian male was admitted due to numbness in his right arm and difficulty in walking. His clinical and laboratorial exams lead to the MS diagnosis. Nine months earlier, he also developed psychotic disorder, not otherwise specified (PD-NOS. His sudden onset of PD-NOS, his rapid and complete response to antipsychotics, and a relatively short interval between psychiatric and neurological signs indicate a high likelihood that PD-NOS was a manifestation of underlying MS. He also suffers from hypertrophic obstructive cardiomyopathy (HOCM. The patient’s neurological complaints were recovered with methylprednisolone (1 g/day, i.v. given for five days. Glatiramer acetate (1 × 1 tb.s.c. was prescribed for consolidation and, after nine months of his admission, the patient fully recovered from neurological and psychiatric complaints. Interestingly, very recent studies indicate specific alpha-actinin antibodies in MS and alpha-actinin mutations cause HOCM. Thus, concurrence of MS with HOCM can be even a new syndrome, if further genetic studies prove.

  16. Echocardiographic predictors of severe heart failure symptoms in hypertrophic cardiomyopathy patients with sinus rhythm

    Directory of Open Access Journals (Sweden)

    Degertekin Muzaffer

    2008-02-01

    Full Text Available Abstract Background Symptoms in hypertrophic cardiomyopathy (HC appear to be caused by diastolic dysfunction, myocardial ischemia, left ventricle (LV outflow obstruction, and atrial fibrillation. However, clinical deterioration and severe heart failure symptoms can be observed in patients without any of these factors. Thus, the aim of this study is to determine the echocardiographic predictors of severe heart failure symptoms in patients with HC. Methods and results 86 HC patients were compared according to symptomatic status. Patients with severe heart failure symptoms were older, preponderantly female, had more often LV outflow obstruction and mitral regurgitation, longer E wave deceleration time (EDt, higher E/Ea ratios and lower LV tissue Doppler (TD velocities when compared to rest of the patients. LV outflow obstruction (r = 0.43, R2 = 0.19, p 2 = 0.26, p 2 = 0.30, p Conclusion In HCM patients with sinus rhythm and normal LV systolic function, LMSa, EDt and LV outflow obstruction are independent predictors of heart failure symptoms. Diastolic dysfunction determined with EDt, occult systolic dysfunction which is detected with TD analysis, and afterload increase as result of LV outflow obstruction seem to be the main echocardiographic factors affecting symptomatic status in HCM patients with sinus rhythm and normal systolic function.

  17. MODIFIED PERCUTANEOUS TRANSLUMINANT SEPTAL MYOCARDIA ABLATION: A NEW METHOD FOR HYPERTROPHIC CARDIOMYOPATHY MANAGEMENT

    Directory of Open Access Journals (Sweden)

    M HASHEMI

    2001-06-01

    Full Text Available Introduction. Familial hypertrophic cardiomyopathy (HCM occurs as an autosomal dominant mendelian inherited disease in about 50 percent cases. abstractive and nonobstractive were two forms of HCM. The most common treatment modalities include drug therapy, mitral valve replacement, installation of dual chamber DD pacemaker and surgical excision of a portion of the hypertrophied septum. Methods. One of the newest methods used in recent years for the treatment of HCM unresponsive to common medical procedures is to inject alcohol into septal artery (septal ablation. We used a modified version of this procedure which consisted of using transesophageal echocardiography evaluation of mitral regurgitation and the diagnosis of septal artery during alcohol injection in a HCM patient. Results. The short term (immediately after procedure and the long term (after 3 months evaluation indicates complete improvement of clinical symptoms in the patient. Discussion. Considering the clinical improvement of symptoms, increased tolerance for activity and reduced gradient in LV outflow tract, this procedure is an effective method for the treatment of HCM resistant to common medical therapy.

  18. Effectiveness of Alcohol Septal Ablation in Obstructive Hypertrophic Cardiomyopathy With Versus Without Extreme Septal Hypertrophy.

    Science.gov (United States)

    Yang, Yin-Jian; Fan, Chao-Mei; Yuan, Jin-Qing; Wang, Zhi-Min; Duan, Fu-Jian; Qiao, Shu-Bin; You, Shi-Jie; Yuan, Jian-Song; Hu, Feng-Huan; Yang, Wei-Xian; Guo, Xi-Ying; Li, Yi-Shi

    2016-03-01

    Data on the effectiveness of alcohol septal ablation (ASA) in patients with hypertrophic cardiomyopathy (HCM) and extreme septal hypertrophy (ESH) are lacking. This study aimed to compare the effectiveness of ASA in patients with vs without ESH. Clinical profiles of 17 patients with ESH and 256 patients without ESH were compared. Baseline pressure gradient and limiting symptoms were comparable between patients with and without ESH. At median 1.1 years of follow-up after ASA, pressure gradient was 48.5 ± 40.4 mm Hg in the ESH group and 40.9 ± 35.2 mm Hg in the non-ESH (N-ESH) group (P=.33). Patients with New York Heart Association class III/IV represented 5.9% of the ESH group and 16.9% of the N-ESH group (P=.39). Patients with Canadian Cardiovascular Society class III/IV represented 5.9% of the ESH group and 10.2% of the N-ESH group (P=.87). The effectiveness of ASA seems comparable between patients with and without ESH.

  19. Regional left ventricular contractile dynamics in hypertrophic cardiomyopathy estimated by magnetic resonance imaging

    International Nuclear Information System (INIS)

    Sato, Tetsuya

    1994-01-01

    To assess the regional myocardial function in hypertrophic cardiomyopathy (HCM), I examined the systolic wall thickening (%WT) and percent change of segmental wall area (%AR) using cine magnetic resonance imaging in 23 normal volunteers (G1) and 40 patients (G2) with HCM. Short axis images of the left ventricle were recorded at the base and the apex, and were divided into 5 segments, and %WT and %AR were measured for each segment. There were no significant differences in %WT and %AR among the segments in G1, while %WT of the posterior septum, posterior and lateral segments in the apex were higher than the corresponding segments of the base. Wall segments of G2 were classified into 3 groups according to the end-diastolic wall thickness: G2a, ≤12 mm; G2b, 12 15. At each slice level, %WT and %AR were highest in G2a and lowest in G2c. These findings suggest that myocardial shortening in normal subjects is higher in the apex than in the base, and, in HCM, regional myocardial function decreases in association with an advance of hypertrophy, with a possible compensatory increased wall function of normal segments. (author)

  20. Comparison of Modified With Classic Morrow Septal Myectomy in Treating Hypertrophic Obstructive Cardiomyopathy.

    Science.gov (United States)

    Song, Bangrong; Dong, Ran

    2016-01-01

    This study aimed to compare the efficacy and safety of the classic Morrow septal myectomy with the modified procedure in treating hypertrophic obstructive cardiomyopathy (HOCM).A retrospective study was conducted to compare the outcomes of classic with modified Morrow septal myectomy in 42 patients treated from January 2005 to July 2011. Preoperative and postoperative ventricular septal thickness, left ventricular (LV) outflow tract velocity and gradient were measured echocardiographically.In both groups, the ventricular septal thickness, LV outflow tract velocity, and LV outflow tract gradient were significantly decreased after the operation. The modified Morrow procedure group, however, showed significantly greater reduction in these echocardiographic parameters than the classic procedure group. All patients in the modified procedure group were asymptomatic postoperatively with a postoperative transvalvular pressure gradient <30 mm Hg. In the classic procedure group, only 14 (87.5%) patients, however, were asymptomatic postoperatively with a postoperative transvalvular pressure gradient <30 mm Hg, and 2 patients still had severe LV outflow obstruction postoperatively.The modified Morrow septal myectomy is safe and effective in treating HOCM patients, and is superior to the classic procedure in reducing the LV outflow tract gradient and velocity, restoring normal anatomic atrioventricular size, and alleviating symptoms associated with HOCM.

  1. The emerging role of cardiovascular MRI for risk stratification in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Hoey, E.T.D.; Teoh, J.K.; Das, I.; Ganeshan, A.; Simpson, H.; Watkin, R.W.

    2014-01-01

    Hypertrophic cardiomyopathy (HCM) is the most common inheritable cardiovascular disorder. Although many HCM patients remain asymptomatic, sudden death (SD) can occur as the initial manifestation of the disease. It has been hypothesized that myocardial architectural disorganization and scarring represent an unstable electrophysiological substrate that creates susceptibility to malignant ventricular arrhythmias. Cardiovascular magnetic resonance imaging (CMR) is widely used for the diagnosis of HCM, especially in patients with an incomplete or inconclusive echocardiography study. CMR can provide precise non-invasive assessment of biventricular function, wall thickness, and assessment of myocardial fibrosis, using inversion recovery gadolinium-enhanced sequences. CMR is also one of the most promising avenues of research in HCM, and in recent years, has provided many new insights and identified a number of potential adverse prognostic indicators for SD. Future work is still needed to integrate CMR findings into traditional risk assessment algorithms. This paper reviews the evolving role of CMR for risk stratification in HCM including assessment of myocardial hypertrophy, fibrosis and ischaemia

  2. T1 mapping for detection of left ventricular myocardial fibrosis in hypertrophic cardiomyopathy: A preliminary study

    International Nuclear Information System (INIS)

    Lu, Minjie; Zhao, Shihua; Yin, Gang; Jiang, Shiliang; Zhao, Tao; Chen, Xiuyu; Tian, Liangxin; Zhang, Yan; Wei, Yunqing; Liu, Qiong; He, Zuoxiang; Xue, Hui; An, Jing; Shah, Saurabh

    2013-01-01

    Purpose: To investigate the diagnostic value of T1 mapping imaging of evaluating fibrosis in patients with hypertrophic cardiomyopathy (HCM). Materials and methods: 21 subjects with HCM and 18 healthy volunteers underwent conventional late gadolinium enhancement (LGE) imaging and T1 mapping imaging. The region of myocardium in HCM is divided into remote area of LGE, peri-LGE, LGE (halo-like LGE and typical patchy LGE). These regions combined with normal volunteers’ myocardium were calculated by the reduced percent of T1 value (RPTV). Results: The RPTV in healthy volunteers was no significant comparing with that in the remote area of LGE in HCM subjects (3.98 ± 3.19 vs. 3.34 ± 2.75, P > 0.05). There were significant statistical differences in pairwise among the remote area of LGE, peri-LGE, halo-like LGE and typical patchy LGE in the RPTV (P < 0.0001). ROC curves indicated that the T1 mapping imaging has a greater area under the curve comparing with that of traditional LGE imaging (0.975 ± 0.07 vs. 0.753 ± 0.26, P < 0.0001). Conclusions: HCM has a high prevalence of fibrosis and with varying severity. T1 mapping imaging can be a useful method to evaluate the severity of the fibrosis in HCM

  3. Extent of Late Gadolinium Enhancement on Cardiac Magnetic Resonance Imaging in Japanese Hypertrophic Cardiomyopathy Patients.

    Science.gov (United States)

    Hen, Yasuki; Iguchi, Nobuo; Utanohara, Yuko; Takada, Kaori; Machida, Haruhiko; Takara, Ayako; Teraoka, Kunihiko; Sumiyoshi, Tetsuya; Takamisawa, Itaru; Takayama, Morimasa; Yoshikawa, Tsutomu

    2016-01-01

    In addition to the presence of late gadolinium enhancement (LGE) on cardiovascular magnetic resonance (CMR), the extent of LGE is considered clinically important in hypertrophic cardiomyopathy (HCM). We evaluated the extent of LGE on CMR in a large series of Japanese HCM patients. CMR was performed in 317 HCM patients (147 male). The extent of LGE was scored as the sum of LGE-positive segments in a left ventricle (LV) 17-segment model. LGE was present in 246 patients (77.6%). LGE was detected in 3.5±3.1 segments on average. When the patients were divided according to maximum wall thickness (mild, 65%), median LGE score increased as EF decreased (reduced, 7 vs. low-normal, 4 vs. normal, 2; P=0.000). On multivariate analysis, reduced EF (OR, 0.947, P=0.015), pressure gradient <30 mmHg (OR, 0.359, P=0.000) and increased maximum wall thickness (OR, 1.236, P=0.000) were independent factors associated with extensive LGE. Progression of LGE was related to increased wall thickness, decreased contractility, and reduced intraventricular pressure gradient.

  4. The assessment of left atrial function in hypertrophic cardiomyopathy using an ultrafast computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Karikomi, Masahito (Chiba Univ. (Japan). School of Medicine)

    1994-06-01

    Ultrafast computed tomography was performed in 22 patients with hypertrophic cardiomyopathy (HCM) and 8 normal subjects to evaluate left atrial function. The area-time curve of the left atrium was obtained from the long axial view and analyzed. The diminishing fraction of the left atrial area from passive atrial emptying to atrial diastasis in HCM was significantly less than that in normal subjects (17.4[+-]6.3% vs 23.0[+-]6.8%, p<0.05). The maximum area, filling fraction, time to peak diminishing rate, peak diminishing rate, time to 50% of peak diminishing rate, and diminishing fraction at the time of peak diminishing rate in HCM did not differ significantly from those in normal subjects. No indices differed between symptomatic patients with HCM and asymptomatic patients with HCM. In conclusion, the contraction of the left atrium is increased and a compensatory mechanism is at work in response to the impairment of left ventricular early diastolic filling, which does not affect the conduit function of the left atrium. It is suggested that the left atrial function in HCM may well be altered before symptom is present. (author).

  5. Regional left ventricular contractile dynamics in hypertrophic cardiomyopathy estimated by magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Sato, Tetsuya (Okayama Univ. (Japan). School of Medicine)

    1994-04-01

    To assess the regional myocardial function in hypertrophic cardiomyopathy (HCM), I examined the systolic wall thickening (%WT) and percent change of segmental wall area (%AR) using cine magnetic resonance imaging in 23 normal volunteers (G1) and 40 patients (G2) with HCM. Short axis images of the left ventricle were recorded at the base and the apex, and were divided into 5 segments, and %WT and %AR were measured for each segment. There were no significant differences in %WT and %AR among the segments in G1, while %WT of the posterior septum, posterior and lateral segments in the apex were higher than the corresponding segments of the base. Wall segments of G2 were classified into 3 groups according to the end-diastolic wall thickness: G2a, [<=]12 mm; G2b, 12<[<=]15; G2c, >15. At each slice level, %WT and %AR were highest in G2a and lowest in G2c. These findings suggest that myocardial shortening in normal subjects is higher in the apex than in the base, and, in HCM, regional myocardial function decreases in association with an advance of hypertrophy, with a possible compensatory increased wall function of normal segments. (author).

  6. Cardiovascular magnetic resonance imaging in hypertrophic cardiomyopathy: the importance of clinical context.

    Science.gov (United States)

    Quarta, Giovanni; Aquaro, Giovanni Donato; Pedrotti, Patrizia; Pontone, Gianluca; Dellegrottaglie, Santo; Iacovoni, Attilio; Brambilla, Paolo; Pradella, Silvia; Todiere, Giancarlo; Rigo, Fausto; Bucciarelli-Ducci, Chiara; Limongelli, Giuseppe; Roghi, Alberto; Olivotto, Iacopo

    2017-12-22

    In patients with suspected or established hypertrophic cardiomyopathy (HCM), cardiovascular magnetic resonance (CMR) is widely employed for clinical management, given its multimodality approach capable of providing unique information on cardiac morphology, function, and tissue characterization. Guidance regarding all aspects of HCM diagnosis and management is provided by the comprehensive 2014 European Society of Cardiology (ESC) guidelines on HCM. CMR should be performed in centres with recognized expertise in heart muscle diseases, by physicians who are familiar with the whole HCM disease spectrum, differential diagnoses, and pitfalls. Because CMR is usually performed and interpreted by physicians not directly involved in patient care, detailed, bidirectional, and standardized communication becomes essential to obtain best results and avoid misinterpretation. In order to maximize the potential of CMR, it is of paramount importance that reporting physicians are provided with the essential clinical information and that, in turn, referring physicians are given a core set of CMR morphological, functional, and tissue characterization results following the test. This article aims to summarize the current knowledge on the role of CMR in managing HCM and, in addition, to review the importance of the clinical context in which the report is provided, in both adult and paediatric population, highlighting implications for clinical research. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2017. For permissions, please email: journals.permissions@oup.com.

  7. Effect of Left Ventricular Outflow Tract Obstruction on Left Atrial Mechanics in Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Lynne K. Williams

    2015-01-01

    Full Text Available Left atrial (LA volumes are known to be increased in hypertrophic cardiomyopathy (HCM and are a predictor of adverse outcome. In addition, LA function is impaired and is presumed to be due to left ventricular (LV diastolic dysfunction as a result of hypertrophy and myocardial fibrosis. In the current study, we assess the incremental effect of outflow tract obstruction (and concomitant mitral regurgitation on LA function as assessed by LA strain. Patients with HCM (50 obstructive, 50 nonobstructive were compared to 50 normal controls. A subset of obstructive patients who had undergone septal myectomy was also studied. Utilising feature-tracking software applied to cardiovascular magnetic resonance images, LA volumes and functional parameters were calculated. LA volumes were significantly elevated and LA ejection fraction and strain were significantly reduced in patients with HCM compared with controls and were significantly more affected in patients with obstruction. LA volumes and function were significantly improved after septal myectomy. LVOT obstruction and mitral regurgitation appear to further impair LA mechanics. Septal myectomy results in a significant reduction in LA volumes, paralleled by an improvement in function.

  8. Diagnostic performance of computed tomography for detection of concomitant coronary disease in hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Zhao, Lei; Ma, Xiaohai; Zhang, Chen; Wang, Zhanhong; Fan, Zhanming [Capital Medical University, Department of Radiology, Beijing Anzhen Hospital, Beijing (China); Ge, Hailong [Capital Medical University, Department of Cardiology, Beijing Anzhen Hospital, Beijing (China); Teraoka, Kunihiko [Tokyo Medical University, Department of Cardiology, Tokyo (Japan)

    2014-10-31

    To evaluate the diagnostic performance of computed tomography (CT) in patients with hypertrophic cardiomyopathy (HCM) and suspected coexistent coronary artery diseases (CADs). Sixty patients were enrolled in this study. Cardiac CT examination included CT coronary angiography (CTCA) and delayed enhancement CT. CT performance in evaluation of the coronary artery was assessed and compared with that of catheter-based coronary angiography (CA). The left ventricle (LV) wall thickness, functional indices and myocardial delayed enhancement (MDE) were measured via cardiac magnetic resonance (CMR) and CT images. Compared with catheter-based CA, CTCA produced a 100 % (24/24) sensitivity, a 94.4 % (34/36) specificity, a 92.3 % (24/26) positive predictive value and a 100 % (34/34) negative predictive value. CT-measured LV wall thickness and functional indices were correlated with those measured via CMR (P < 0.01), though the CT-measured values were smaller than the CMR-measured values. Bland-Altman analysis showed the volume of the focal MDE determined via CT was slightly smaller than that determined using CMR (mean difference: 0.3 cm{sup 3}). For patients with HCM and suspected coexistent CAD, this comprehensive cardiac CT protocol can be helpful in ruling out coronary stenosis and can provide information regarding morphology, function and tissue characterization of the LV myocardium. (orig.)

  9. High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort

    Directory of Open Access Journals (Sweden)

    Santos Susana

    2012-03-01

    Full Text Available Abstract Background Hypertrophic Cardiomyopathy (HCM is a complex myocardial disorder with a recognized genetic heterogeneity. The elevated number of genes and mutations involved in HCM limits a gene-based diagnosis that should be considered of most importance for basic research and clinical medicine. Methodology In this report, we evaluated High Resolution Melting (HRM robustness, regarding HCM genetic testing, by means of analyzing 28 HCM-associated genes, including the most frequent 4 HCM-associated sarcomere genes, as well as 24 genes with lower reported HCM-phenotype association. We analyzed 80 Portuguese individuals with clinical phenotype of HCM allowing simultaneously a better characterization of this disease in the Portuguese population. Results HRM technology allowed us to identify 60 mutated alleles in 72 HCM patients: 49 missense mutations, 3 nonsense mutations, one 1-bp deletion, one 5-bp deletion, one in frame 3-bp deletion, one insertion/deletion, 3 splice mutations, one 5'UTR mutation in MYH7, MYBPC3, TNNT2, TNNI3, CSRP3, MYH6 and MYL2 genes. Significantly 22 are novel gene mutations. Conclusions HRM was proven to be a technique with high sensitivity and a low false positive ratio allowing a rapid, innovative and low cost genotyping of HCM. In a short return, HRM as a gene scanning technique could be a cost-effective gene-based diagnosis for an accurate HCM genetic diagnosis and hopefully providing new insights into genotype/phenotype correlations.

  10. Effects of diltiazem on myocardial perfusion abnormalities during exercise in patients with hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Sugihara, Hiroki; Taniguchi, Yoko; Ito, Kazuki [Kyoto Prefectural Univ. of Medicine (Japan)] [and others

    1998-12-01

    The effect of diltiazem on myocardial ischemia in patients with hypertrophic cardiomyopathy (HCM) was evaluated by exercise myocardial {sup 201}Tl single photon emission computed tomography (SPECT). Exercise myocardial SPECT was performed before and 8 weeks after oral administration of diltiazem (180 mg/day) in 20 patients with HCM who showed transient perfusion defects on exercise myocardial {sup 201}Tl SPECT under control conditions. SPECT images were divided into 17 segments. The {sup 201}Tl perfusion defects were visually scored and evaluated as the defect score. The transient dilation index was calculated as an index of subendocardial ischemia. Improvement of the defect score was demonstrated in 15 patients after the administration of diltiazem. The mean defect score decreased significantly from 9.90{+-}5.17 to 5.50{+-}4.89 (p<0.0001). Although 16 of 20 patients showed an abnormal transient dilation index before diltiazem treatment, 16 showed improvement and 13 of these normalized after diltiazem therapy. The mean transient dilation index decreased from 1.16{+-}0.10 to 1.02{+-}0.09 (p<0.0001). In conclusion, diltiazem prevents or diminishes myocardial ischemia in patients with HCM. (author)

  11. T1 mapping for detection of left ventricular myocardial fibrosis in hypertrophic cardiomyopathy: A preliminary study

    Energy Technology Data Exchange (ETDEWEB)

    Lu, Minjie [Department of Radiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing (China); Zhao, Shihua, E-mail: coolkan@163.com [Department of Radiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing (China); Yin, Gang; Jiang, Shiliang; Zhao, Tao; Chen, Xiuyu [Department of Radiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing (China); Tian, Liangxin [Department of Cardiac Surgery, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing (China); Zhang, Yan; Wei, Yunqing; Liu, Qiong [Department of Radiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing (China); He, Zuoxiang [Department of Nuclear Medicine, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing (China); Xue, Hui [Siemens Healthcare, 737 N. Michigan Avenue, Suite 1600 Chicago, IL 60611 (United States); An, Jing [Siemens Shenzhen Magnetic Resonance Ltd. Application Dept. Siemens MRI center, Gaoxin C. Ave.,2nd, Hi-Tech Industrial Park, Shenzhen (China); Shah, Saurabh [Siemens Healthcare, 737 N. Michigan Avenue, Suite 1600 Chicago, IL 60611 (United States)

    2013-05-15

    Purpose: To investigate the diagnostic value of T1 mapping imaging of evaluating fibrosis in patients with hypertrophic cardiomyopathy (HCM). Materials and methods: 21 subjects with HCM and 18 healthy volunteers underwent conventional late gadolinium enhancement (LGE) imaging and T1 mapping imaging. The region of myocardium in HCM is divided into remote area of LGE, peri-LGE, LGE (halo-like LGE and typical patchy LGE). These regions combined with normal volunteers’ myocardium were calculated by the reduced percent of T1 value (RPTV). Results: The RPTV in healthy volunteers was no significant comparing with that in the remote area of LGE in HCM subjects (3.98 ± 3.19 vs. 3.34 ± 2.75, P > 0.05). There were significant statistical differences in pairwise among the remote area of LGE, peri-LGE, halo-like LGE and typical patchy LGE in the RPTV (P < 0.0001). ROC curves indicated that the T1 mapping imaging has a greater area under the curve comparing with that of traditional LGE imaging (0.975 ± 0.07 vs. 0.753 ± 0.26, P < 0.0001). Conclusions: HCM has a high prevalence of fibrosis and with varying severity. T1 mapping imaging can be a useful method to evaluate the severity of the fibrosis in HCM.

  12. Clinical significance of {sup 123}I-MIBG myocardial scintigraphy in patients with hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Ido, Akira; Hasebe, Naoyuki; Nakamura, Hideki [Asahikawa Medical Coll., Hokkaido (Japan)] [and others

    1997-09-01

    We studied the abnormality of myocardial sympathetic nervous system in patients with hypertrophic cardiomyopathy using {sup 123}I-metaiodobenzylguanidine (MIBG) myocardial scintigraphy in comparison with the parameters of other clinical examinations. In 50 patients with HCM, the heart to mediastinum {sup 123}I-MIBG uptake ratio (H/M) was significantly low and washout rate (WR) of {sup 123}I-MIBG was significantly high respectively compared with normal subjects (n=8). H/M was negatively correlated with serum norepinephrine level, wall thickness or left ventricle, left ventricular mass index, left ventricular end diastolic pressure respectively, and WR was positively correlated with those parameters respectively. On the other hand, LF/HF calculated by spectral analysis in holter electrocardiogram was positively correlated with H/M, and negatively correlated with WR. In HCM, H/M in patients with subjective symptoms was significantly lower than that without subjective symptoms, and WR in patients with paroxysmal atrial fibrillation was significantly higher than that without paroxysmal atrial fibrillation. This study revealed that H/M and WR reflected the severity and the difference of disease type in HCM. In conclusion, {sup 123}I-MIBG contributes to evaluating more details in diagnosis and pathophysiology of HCM. (author)

  13. Bilateral brachial plexus blocks in a patient of hypertrophic obstructive cardiomyopathy with hypertensive crisis

    Directory of Open Access Journals (Sweden)

    Rohini V Bhat Pai

    2013-01-01

    Full Text Available Hypertrophic obstructive cardiomyopathy (HOCM is a challenge to anesthesiologists due to the complex pathophysiology involved and various perioperative complications associated with it. We present a 50-year-old man, a known case of HOCM, who successfully underwent emergency haemostasis, and debridement of the traumatically amputated right upper limb and the contused lacerated wound on the left forearm under bilateral brachial plexus blocks. His co-morbidities included hypertension (in hypertensive crisis and diabetes mellitus. He was full stomach and also had an anticipated difficult airway. The management included invasive pressure monitoring and labetalol infusion for emergent control of blood pressure. The regional anaesthesia technique required careful consideration to the dosage of local anaesthetics and staggered performance of brachial plexus blocks on each of the upper limbs to avoid local anaesthetic toxicity. Even though bilateral brachial plexus blocks are rarely indicated, it seemed to be the most appropriate anaesthetic technique in our patient. With careful consideration of the local anaesthetic toxicity and meticulous technique, bilateral brachial plexus blocks can be successfully performed in those patients where general anaesthesia is deemed to be associated with higher risk.

  14. Bilateral brachial plexus blocks in a patient of hypertrophic obstructive cardiomyopathy with hypertensive crisis

    Science.gov (United States)

    Pai, Rohini V Bhat; Hegde, Harihar V; Santhosh, MCB; Roopa, S; Deshpande, Shrinivas S; Rao, P Raghavendra

    2013-01-01

    Hypertrophic obstructive cardiomyopathy (HOCM) is a challenge to anesthesiologists due to the complex pathophysiology involved and various perioperative complications associated with it. We present a 50-year-old man, a known case of HOCM, who successfully underwent emergency haemostasis, and debridement of the traumatically amputated right upper limb and the contused lacerated wound on the left forearm under bilateral brachial plexus blocks. His co-morbidities included hypertension (in hypertensive crisis) and diabetes mellitus. He was full stomach and also had an anticipated difficult airway. The management included invasive pressure monitoring and labetalol infusion for emergent control of blood pressure. The regional anaesthesia technique required careful consideration to the dosage of local anaesthetics and staggered performance of brachial plexus blocks on each of the upper limbs to avoid local anaesthetic toxicity. Even though bilateral brachial plexus blocks are rarely indicated, it seemed to be the most appropriate anaesthetic technique in our patient. With careful consideration of the local anaesthetic toxicity and meticulous technique, bilateral brachial plexus blocks can be successfully performed in those patients where general anaesthesia is deemed to be associated with higher risk. PMID:23716772

  15. Anaesthesia management of a patient with hypertrophic obstructive cardiomyopathy undergoing Morrow′s septal myectomy

    Directory of Open Access Journals (Sweden)

    Naresh Kumar Agarwal

    2007-01-01

    Full Text Available Hypertrophic obstructive cardiomyopathy (HOCM is a rare disorder. There is paucity of literature on anaesthetic management of this disorder. Aim of this case report is to highlight the anaesthetic problems encountered during management of such patients. A thirty-five year old male was admitted with atypical chest pain for last one year. X-ray chest revealed cardiomegaly (CT ratio 0.6. Electrocardiographic findings were left axis deviation with left ventricular hypertrophy. On echocardiography, there was moderate mitral regurgitation (MR, systolic anterior motion (SAM of anterior mitral leaflet and prominent systolic narrowing of left ventricle cavity. Transoesophageal echocardiography (TOE also showed an anomalous muscle bundle stretching into LV causing obstruction. Preload was kept high. Systemic vascular resistance (SVR was maintained, avoiding use of vasodilators and inotropes. Morrow′s septal myectomy was done. Anomalous muscle bundle was excised. On postoperative TOE, there was no MR and no obstruction. Optimal anaesthetic management in such patients involves maintaining adequate preload, systemic vascular resistance and minimal outflow obstruction. Other considerations are to maintain haemodynamic stability, sinus rhythm and afterload. Transoesophageal echocardiography is an extremely useful monitoring device in such patients.

  16. Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    Yilu Wang

    Full Text Available BACKGROUND: Hypertrophic cardiomyopathy (HCM due to mutations in genes encoding sarcomere proteins is most commonly inherited as an autosomal dominant trait. Since nearly 50% of HCM cases occur in the absence of a family history, a recessive inheritance pattern may be involved. METHODS: A pedigree was identified with suspected autosomal recessive transmission of HCM. Twenty-six HCM-related genes were comprehensively screened for mutations in the proband with targeted second generation sequencing, and the identified mutation was confirmed with bi-directional Sanger sequencing in all family members and 376 healthy controls. RESULTS: A novel missense mutation (c.1469G>T, p.Gly490Val in exon 17 of MYBPC3 was identified. Two siblings with HCM were homozygous for this mutation, whereas other family members were either heterozygous or wild type. Clinical evaluation showed that both homozygotes manifested a typical HCM presentation, but none of others, including 5 adult heterozygous mutation carriers up to 71 years of age, had any clinical evidence of HCM. CONCLUSIONS: Our data identified a MYBPC3 mutation in HCM, which appeared autosomal recessively inherited in this family. The absence of a family history of clinical HCM may be due to not only a de novo mutation, but also recessive mutations that failed to produce a clinical phenotype in heterozygous family members. Therefore, consideration of recessive mutations leading to HCM is essential for risk stratification and genetic counseling.

  17. Occurrence and Natural History of Clinically Silent Episodes of Atrial Fibrillation in Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Rowin, Ethan J; Orfanos, Alexander; Estes, N A Mark; Wang, Wendy; Link, Mark S; Maron, Martin S; Maron, Barry J

    2017-06-01

    Overt symptomatic atrial fibrillation (AF) occurs in over 20% of patients with hypertrophic cardiomyopathy (HC) leading to impaired quality of life, loss of productivity, and the risk for embolic stroke. However, the overall burden presented by AF in the HC population is unresolved due to the unknown frequency of silent asymptomatic episodes that do not necessarily achieve clinical recognition but nevertheless may have important disease-related implications. Therefore, stored electrograms were analyzed retrospectively for AF in 75 consecutive patients with HC (without AF history) implanted with dual-chamber cardioverter-defibrillators. Patients were followed for 5.0 ± 4.1 years at the Tufts Medical Center HCM Institute; ages were 50 ± 15 years, and 55% were male. Implantable cardioverter-defibrillator interrogation in the 75 patients showed AF to be absent in 54 (72%), 18 (24%) had clinically silent AF episodes, and the remaining 3 (4%) without previous asymptomatic episodes developed symptomatic and clinically overt paroxysmal AF. Of the 18 patients with clinically silent AF, 8 developed symptomatic AF, 4.1 ± 1.5 years later. Nonfatal embolic stroke occurred in 1 patient associated with asymptomatic AF and without other risk factors. In conclusion, clinically silent AF appears to be common in HC, occurring in almost 25% of patients. Such asymptomatic episodes of AF have important future implications, including potential thromboembolic risk, and development of symptomatic and clinically overt AF requiring prophylactic anticoagulation. Copyright © 2017 Elsevier Inc. All rights reserved.

  18. Degree and distribution of left ventricular hypertrophy as a determining factor for elevated natriuretic peptide levels in patients with hypertrophic cardiomyopathy: insights from cardiac magnetic resonance imaging.

    Science.gov (United States)

    Park, Jeong Rang; Choi, Jin-Oh; Han, Hye Jin; Chang, Sung-A; Park, Sung-Ji; Lee, Sang-Chol; Choe, Yeon Hyeon; Park, Seung Woo; Oh, Jae K

    2012-04-01

    Whether the left ventricular (LV) mass index (LVMI) and LV volumetric parameters are associated independently with natriuretic peptide levels is unclear in hypertrophic cardiomyopathy (HCM). Therefore, we investigated which parameters have an independent relationship with N-terminal pro-B type natriuretic peptide (NT-proBNP) levels in HCM patients using echocardiography and cardiac magnetic resonance imaging (CMR). A total of 103 patients with HCM (82 men, age 53 ± 12 years) were evaluated. Echocardiographic evaluations included left atrial volume index (LAVI) and early diastolic mitral inflow E velocity to early annular Ea velocity ratio (E/Ea). LVMI, maximal wall thickness and LV volumetric parameters were measured using CMR. The median value of NT-proBNP level was 387.0 pg/ml. The mean NT-proBNP level in patients with non-apical HCM (n = 69; 36 patients with asymmetric septal hypertrophy, 11 with diffuse, and 22 with mixed type) was significantly higher than in those with apical HCM (n = 34, P < 0.001). NT-proBNP level was negatively correlated with LV end-diastolic volume (LVEDV) (r = -0.263, P = 0.007) and positively with LVMI (r = 0.225, P = 0.022) and maximal wall thickness (r = 0.495, P < 0.001). Among the echocardiographic variables, LAVI (r = 0.492, P < 0.001) and E/Ea (r = 0.432, P < 0.001) were correlated with NT-proBNP. On multivariable analysis, non-apical HCM, increased maximal wall thickness and LAVI were independently related with NT-proBNP. Severity of LV hypertrophy and diastolic parameters might be important in the elevation of NT-proBNP level in HCM. Therefore, further evaluation of these parameters in HCM might be warranted.

  19. Fibroma cardíaco mimetizando cardiomiopatia hipertrófica Cardiac fibroma mimicking hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Luís Alberto Dallan

    1989-12-01

    Full Text Available É relatado o caso de paciente com queixa de dor precordial, dispnéia e arritmia desde a adolescência, tratada clinicamente por mais de 10 anos. Nesse período, foi submetida a inúmeros exames ângio e ecocardiográficos, com suspeita inicial de endomiocardiofibrose e, posteriormente, de cardiomiopatia hipertrófica de ventrículo esquerdo. Como houve piora progressiva da sintomatologia e ausência de resposta à medicação, foi encaminhada ao nosso Serviço, onde se diagnosticou fibroma de ventrículo esquerdo. Foi submetida, com sucesso, à ressecção cirúrgica do tumor, sendo realizada reconstrução geométrica do ventrículo esquerdo. Apresenta boa evolução, decorridos dois anos, com remissão completa dos sintomas. Destacamos a dificuldade no diagnóstico diferencial desses tumores benignos e de crescimento lento, com as cardiomiopatias hipertróficas do ventrículo esquerdo.A 33 year-old woman was seen, for the first time, ten years ago, for evaluation of a recurrent chest pain, dyspnea and arrhythmia. She was submitted to echocardiographic studies and a cardiac catheterization. The diagnoses was endomyocardial fibrosis at first, and hypertrophic cardiomyopathy after. Despite treatment with propranolol and quinidine, the episodes of dyspnea and tachyarrhythmias became more frequent and severe, and the patient was guided to our Service. Cardiac re-catheterization, echocardiographic and computed tomography studies identified in traumural cardiac fibroma and the patient was referred for surgical treatment. The cardiac fibroma was successfully resected on extracorporeal bypass and with cardioplegic arrest of the heart. Repair of the heart was accomplished with a patch placed to close the left ventricular cavity. The postoperative course was uncomplicated, and she remains assymptomatic two years later. We have emphazied tha this tumor often produces clinically obscure disease, simulating particularly the left ventricle hypertrophic

  20. Myocardial deformation imaging and rare cardiomyopathies with hypertrophic phenotype: a review focused on Fabry disease, Friedreich ataxia and amyloidosis

    Directory of Open Access Journals (Sweden)

    Bahaa Fadel

    2013-06-01

    Full Text Available Tissue Doppler and deformation imaging, including Doppler-derived strain and speckle tracking, have significantly improved our understanding of cardiac mechanics in both physiological and pathological states. The various modes of left ventricular deformation (longitudinal, circumferential, radial and twist leading to systolic contraction can nowadays be quantified. One of the best applications of deformation imaging is in the area of hypertrophic cardiomyopathies. Deformation imaging allows the evaluation of global and regional myocardial performance and the noninvasive characterization of abnormal intramural myocardial mechanics. In this review, we discuss the role of myocardial deformation imaging derived by echocardiography in the assessment of rare hypertrophic phenotype including Fabry disease, Friedreich ataxia and amyloidosis. Deformation imaging allows for early identification of myocardial dysfunction in many hypertrophic disorders, at an earlier stage than that provided by standard imaging or echocardiographic techniques. This allows for the implementation of appropriate therapy before significant disease progression has occurred and prior to the development of advanced myocardial fibrosis. Thus therapy would likely be more effective and may potentially lead to improvement in patient outcome. Additionally strain imaging allows to better monitoring the efficacy of therapy by assessing the progression and regression of myocardial involvement. Finally, findings on strain imaging carry important prognostic information in many hypertrophic disorders.

  1. Exercise in patients with hypertrophic cardiomyopathy: A review of current evidence, national guideline recommendations and a proposal for a new direction to fitness.

    Science.gov (United States)

    Hindieh, Waseem; Adler, Arnon; Weissler-Snir, Adaya; Fourey, Dana; Harris, Sarah; Rakowski, Harry

    2017-04-01

    Hypertrophic cardiomyopathy is a common genetic disorder with a prevalence of 1:500 in the general population. Amongst a varied spectrum of clinical presentations, the most feared complication of this cardiac disorder is sudden cardiac death. Although only a minority of patients with hypertrophic cardiomyopathy who suffer sudden cardiac death or resuscitated cardiac arrest do so during exercise, strenuous physical activity is regarded as an important trigger for these tragic outcomes. Furthermore, during exercise, patients with hypertrophic cardiomyopathy may develop augmentation of left ventricular outflow tract obstruction, myocardial ischemia, diastolic dysfunction and/or inappropriate vasodilation in non-exercising vascular beds. This in turn may lead to exertional dyspnea, chest pain or syncope. Accordingly, patients with hypertrophic cardiomyopathy are disqualified from competitive sports and in many cases are recommended to avoid strenuous physical activity of any kind. Nevertheless, avoidance of physical activity comes with a price. The positive effects of regular exercise have been extensively reported to convey a wide range of benefits including reduced cardiovascular events, weight reduction and improved wellbeing. Therefore, finding the right exercise level that will offer some of the benefits of physical activity without increasing the risk of sudden cardiac death is of utmost importance. In this review, we discuss the current evidence for and against exercise in this patient population and review national guideline recommendations. We also propose alternative fitness strategies including a novel fitness program implemented by our hypertrophic cardiomyopathy center which may be of particular usefulness for hypertrophic cardiomyopathy patients. Copyright © 2016 Sports Medicine Australia. Published by Elsevier Ltd. All rights reserved.

  2. Intraoperative Diagnosis of Anderson-Fabry Disease in Patients With Obstructive Hypertrophic Cardiomyopathy Undergoing Surgical Myectomy.

    Science.gov (United States)

    Cecchi, Franco; Iascone, Maria; Maurizi, Niccolò; Pezzoli, Laura; Binaco, Irene; Biagini, Elena; Fibbi, Maria Laura; Olivotto, Iacopo; Pieruzzi, Federico; Fruntelata, Ana; Dorobantu, Lucian; Rapezzi, Claudio; Ferrazzi, Paolo

    2017-10-01

    Diagnostic screening for Anderson-Fabry cardiomyopathy (AFC) is performed in the presence of specific clinical red flags in patients with hypertrophic cardiomyopathy (HCM) older than 25 years. However, left ventricular outflow tract obstruction (LVOTO) has been traditionally considered an exclusion criteria for AFC. To examine a series of patients diagnosed with HCM and severe basal LVOTO undergoing myectomy in whom the diagnosis of AFC was suspected by the cardiac surgeon intraoperatively and confirmed by histological and genetic examinations. This retrospective analysis of patients undergoing surgical septal reduction strategies was conducted in 3 European tertiary referral centers for HCM from July 2013 to December 2016. Patients with a clinical diagnosis of obstructive HCM referred for surgical management of LVOTO were observed for at least 18 months after the procedure (mean [SD] follow-up, 33 [14] months). Etiology of patients with HCM who underwent surgical myectomy. From 2013, 235 consecutive patients with a clinical diagnosis of HCM underwent septal myectomy. The cardiac surgeon suspected a storage disease in 3 patients (1.3%) while inspecting their heart samples extracted from myectomy. The mean (SD) age at diagnosis for these 3 patients was 42 (4) years; all were male. None of the 3 patients presented with extracardiac features suggestive of AFC. All patients showed asymmetrical left ventricular hypertrophy, with maximal left ventricular thickness in the basal septum (19-31 mm), severe basal LVOTO (70-120 mm Hg), and left atrial dilatation (44-57 mm). Only 1 patient presented with late gadolinium enhancement on cardiovascular magnetic resonance at the right ventricle insertion site. The mean (SD) age at surgical procedure was 63 (5) years. On tactile sensation, the surgeon felt a spongy consistency of the surgical samples, different from the usual stony-elastic consistency typical of classic HCM, and this prompted histological examinations. Histology

  3. Peripheral blood derived induced pluripotent stem cells (iPSCs from a female with familial hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Samantha Barratt Ross

    2017-04-01

    Full Text Available Induced pluripotent stem cells (iPSCs were generated from peripheral blood mononuclear cells (PBMCs obtained from a 62-year-old female with familial hypertrophic cardiomyopathy (HCM. PBMCs were reprogrammed to a pluripotent state following transfection with non-integrative episomal vectors carrying reprogramming factors OCT4, SOX2, LIN28, KLF4 and L-MYC. iPSCs were shown to express pluripotency markers, possess trilineage differentiation potential, carry rare variants identified in DNA isolated directly from the patient's whole blood, have a normal karyotype and no longer carry episomal vectors for reprogramming. This line is a useful resource for identifying unknown genetic causes of HCM.

  4. Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy

    OpenAIRE

    Tardiff, Jil C.; Hewett, Timothy E.; Palmer, Bradley M.; Olsson, Charlotte; Factor, Stephen M.; Moore, Russell L.; Robbins, Jeffrey; Leinwand, Leslie A.

    1999-01-01

    Multiple mutations in cardiac troponin T (cTnT) can cause familial hypertrophic cardiomyopathy (FHC). Patients with cTnT mutations generally exhibit mild or no ventricular hypertrophy, yet demonstrate a high frequency of early sudden death. To understand the functional basis of these phenotypes, we created transgenic mouse lines expressing 30%, 67%, and 92% of their total cTnT as a missense (R92Q) allele analogous to one found in FHC. Similar to a mouse FHC model expressing a truncated cTnT p...

  5. Allosteric effects of cardiac troponin TNT1 mutations on actomyosin binding: A novel pathogenic mechanism for hypertrophic cardiomyopathy

    OpenAIRE

    Moore, Rachel K.; Abdullah, Salwa; Tardiff, Jil C.

    2014-01-01

    The majority of hypertrophic cardiomyopathy mutations in (cTnT) occur within the alpha-helical tropomyosin binding TNT1 domain. A highly charged region at the C-terminal end of TNT1 unwinds to create a flexible “hinge”. While this region has not been structurally resolved, it likely acts as an extended linker between the two cTnT functional domains. Mutations in this region cause phenotypically diverse and often severe forms of HCM. Mechanistic insight, however, has been limited by the lack o...

  6. Significance of positive or negative thallium-201 scintigraphy in hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    von Dohlen, T.W.; Prisant, L.M.; Frank, M.J. (Medical College of Georgia, Augusta (USA))

    1989-09-01

    Myocardial ischemia, fibrosis and infarction may occur in patients with hypertrophic cardiomyopathy (HC) in the absence of epicardial coronary artery disease. To determine their prevalence and relation with common characteristics, stress thallium-201 scintigraphy was performed in 28 patients. Eleven (39%) had positive scans despite normal epicardial coronary arteries (7 patients) or a pretest risk of coronary disease less than or equal to 5% (4 patients). There was no relation between thallium defects and age, sex, chest pain or outflow tract gradients at rest. However, the mean left ventricular ejection fraction was significantly lower in those with perfusion abnormalities compared with those without (64 +/- 15 vs 75 +/- 11%, respectively, p less than 0.05). Also, the mean ventricular septal thickness was greater in patients with positive scans (27 +/- 7 vs 21 +/- 6 mm, p less than 0.05), and there was a nonparametric relation between increasing septal thickness and the frequency of positive scans (p less than 0.025). Seven of 11 patients with positive scans had ventricular tachycardia compared with none among those who had negative scans (p less than 0.001), and 5 of these 11 patients had conduction system disease requiring permanent pacemaker insertion compared with 1 of 17 with negative scans (p less than 0.025). It is concluded that thallium perfusion abnormalities are common in patients with HC in the absence of epicardial coronary disease, and are strongly associated with potentially lethal arrhythmias. Thallium scintigraphy appears to identify a subset of patients with HC at increased risk for sudden death, who therefore require closer follow-up.

  7. Prognostic significance of radionuclide-assessed diastolic function in hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Chikamori, T.; Dickie, S.; Poloniecki, J.D.; Myers, M.J.; Lavender, J.P.; McKenna, W.J. (Hammersmith Hospital, London (England))

    1990-02-15

    To evaluate the prognostic significance of diastolic function in hypertrophic cardiomyopathy (HC), technetium-99m gated equilibrium radionuclide angiography, acquired in list mode, was performed in 161 patients. Five diastolic indexes were calculated. During 3.0 +/- 1.9 years, 13 patients had disease-related deaths. With univariate analysis, these patients were younger (29 +/- 20 vs 42 +/- 16 years; p less than 0.05), had a higher incidence of syncope (p less than 0.025), dyspnea (p less than 0.001), reduced peak filling rate (2.9 +/- 0.9 vs 3.4 +/- 1.0 end-diastolic volume/s; p = 0.09) with increased relative filling volume during the rapid filling period (80 +/- 7 vs 75 +/- 12%; p = 0.06) and decreased atrial contribution (17 +/- 7 vs 22 +/- 11%; p = 0.07). Stepwise discriminant analysis revealed that young age at diagnosis, syncope at diagnosis, reduced peak ejection rate, positive family history, reduced peak filling rate, increased relative filling volume by peak filling rate and concentric left ventricular hypertrophy were the most statistically significant (p = 0.0001) predictors of disease-related death (sensitivity 92%, specificity 76%, accuracy 77%, positive predictive value 25%). Discriminant analysis excluding the diastolic indexes, however, showed similar predictability (sensitivity 92%, specificity 76%, accuracy 78%, positive predictive value 26%). To obtain more homogeneous groups for analysis, patients were classified as survivors or electrically unstable, including sudden death, out-of-hospital ventricular fibrillation and nonsustained ventricular tachycardia during 48-hour ambulatory electrocardiography, and heart failure death or cardiac transplant.

  8. Distribution of Hypertrophy and Late Gadolinium Enhancement in Children and Adolescents with Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Windram, Jonathan D; Benson, Lee N; Dragelescu, Andreea; Yoo, Shi-Joon; Mertens, Luc; Wong, Derek; Grosse-Wortmann, Lars

    2015-01-01

    While well characterized in adult patients, the pattern of hypertrophy and the extent of myocardial scarring in hypertrophic cardiomyopathy (HCM) are insufficiently known. The aim of this study was to assess the hypertrophy patterns and the prevalence and clinical significance of scars in the hearts of young patients with HCM. A retrospective analysis of the imaging findings of 38 children (aged 12.83 ± 2 years, 30 males) with HCM who underwent cardiac magnetic resonance imaging (CMR) was performed. In addition to left ventricular mass and volumes, the examinations were assessed for the pattern of hypertrophy and presence of late gadolinium enhancement (LGE). A myocardial signal intensity ≥6 standard deviations above the mean of normal myocardium defined positive LGE. Left ventricular mass index averaged 110 ± 34 g/m(2) . Nineteen children (50%) had diffuse septal, 13 (34%) diffuse concentric and 6 (16%) isolated basal hypertrophy. Seven children (18%) had LGE. Patients with LGE had a greater left ventricular mass index than those without (136 ± 34 g/m(2) vs. 104 ± 31 g/m(2) , P = .025). The only two patients who presented with an episode of aborted sudden cardiac death had LGE (P = .03). The most common hypertrophy pattern in children with HCM was diffuse septal hypertrophy. The incidence of LGE observed is lower than that reported in adults. The presence of LGE appears to confer a risk for adverse events. © 2015 Wiley Periodicals, Inc.

  9. Differentiating left ventricular hypertrophy in athletes from that in patients with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Caselli, Stefano; Maron, Martin S; Urbano-Moral, Josè A; Pandian, Natesa G; Maron, Barry J; Pelliccia, Antonio

    2014-11-01

    Identification of hypertrophic cardiomyopathy (HC) in young athletes is challenging when left ventricular (LV) wall thickness is between 13 and 15 mm. The aim of this study was to revise the ability of simple echocardiographic and clinical variables for the differential diagnosis of HC versus athlete's heart. Twenty-eight athletes free of cardiovascular disease were compared with 25 untrained patients with HC, matched for LV wall thickness (13 to 15 mm), age, and gender. Clinical, electrocardiographic, and echocardiographic variables were compared. Athletes had larger LV cavities (60 ± 3 vs 45 ± 5 mm, p 40 mm excluded HC with sensitivity of 92% and specificity of 71% (p <0.001). Athletes showed higher e' velocity by tissue Doppler imaging than patients with HC (12.5 ± 1.9 vs 9.3 ± 2.3 cm/second, p <0.001), with values <11.5 cm/second yielding sensitivity of 81% and specificity of 61% for the diagnosis of HC (p <0.001). Absence of diffuse T-wave inversion on electrocardiography (specificity 92%) and negative family history for HC (specificity 100%) also proved useful for excluding HC. In conclusion, in athletes with LV hypertrophy in the "gray zone" with HC, LV cavity size appears the most reliable criterion to help in diagnosis, with a cut-off value of <54 mm useful for differentiation from athlete's heart. Other criteria, including LV diastolic dysfunction, absence of T-wave inversion on electrocardiography, and negative family history, further aid in the differential diagnosis. Copyright © 2014 Elsevier Inc. All rights reserved.

  10. N-acetylcysteine reverses diastolic dysfunction and hypertrophy in familial hypertrophic cardiomyopathy.

    Science.gov (United States)

    Wilder, Tanganyika; Ryba, David M; Wieczorek, David F; Wolska, Beata M; Solaro, R John

    2015-11-15

    S-glutathionylation of cardiac myosin-binding protein C (cMyBP-C) induces Ca(2+) sensitization and a slowing of cross-bridge kinetics as a result of increased oxidative signaling. Although there is evidence for a role of oxidative stress in disorders associated with hypertrophic cardiomyopathy (HCM), this mechanism is not well understood. We investigated whether oxidative myofilament modifications may be in part responsible for diastolic dysfunction in HCM. We administered N-acetylcysteine (NAC) for 30 days to 1-mo-old wild-type mice and to transgenic mice expressing a mutant tropomyosin (Tm-E180G) and nontransgenic littermates. Tm-E180G hearts demonstrate a phenotype similar to human HCM. After NAC administration, the morphology and diastolic function of Tm-E180G mice was not significantly different from controls, indicating that NAC had reversed baseline diastolic dysfunction and hypertrophy in our model. NAC administration also increased sarco(endo)plasmic reticulum Ca(2+) ATPase protein expression, reduced extracellular signal-related kinase 1/2 phosphorylation, and normalized phosphorylation of phospholamban, as assessed by Western blot. Detergent-extracted fiber bundles from NAC-administered Tm-E180G mice showed nearly nontransgenic (NTG) myofilament Ca(2+) sensitivity. Additionally, we found that NAC increased tension cost and rate of cross-bridge reattachment. Tm-E180G myofilaments were found to have a significant increase in S-glutathionylation of cMyBP-C, which was returned to NTG levels upon NAC administration. Taken together, our results indicate that oxidative myofilament modifications are an important mediator in diastolic function, and by relieving this modification we were able to reverse established diastolic dysfunction and hypertrophy in HCM. Copyright © 2015 the American Physiological Society.

  11. Effects of hypertrophy and fibrosis on regional and global functional heterogeneity in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Chang, Sung-A; Lee, Sang-Chol; Choe, Yeon Hyeon; Hahn, Hye-Jin; Jang, Shin Yi; Park, Sung-Ji; Choi, Jin-Oh; Park, Seung Woo; Oh, Jae K

    2012-12-01

    Hypertrophic cardiomyopathy (HCM) is a disease that typically has heterogeneous hypertrophy and dysfunction of the myocardium. Cardiac magnetic resonance imaging (CMR) can be used to accurately assess ventricular wall thickness and regional fibrosis. We investigated the effects of hypertrophy and fibrosis on the heterogeneity of regional and global myocardial function in HCM. Forty patients who were diagnosed with HCM were consecutively enrolled. Echocardiography and CMR with delayed hyper-enhancement imaging (DHE) was performed for each patient. Left ventricular (LV) regional and global longitudinal strain (SL(R) and SL(G)) were obtained by two-dimensional speckle tracking method on echocardiography. With CMR, regional myocardial wall thickness was measured, and the amount of DHE was calculated semi-quantitatively in each segment. Overall, 720 segments were analyzed. SL(R) was significantly decreased in the hypertrophied segments (thickness > 11 mm) and segments with DHE (P < 0.001). SL(R) was correlated with myocardial wall thickness (r = 0.47, P = 0.001) and amount of regional DHE (r = 0.39, P < 0.001). On multivariate analysis, regional LV wall thickness and amount of DHE were the only independent determinants of SL(R). SL(G) was associated with LV diastolic functional parameters in echocardiography, total DHE volume, and LV mass index. Total DHE volume and LV mass index were independent determinants of SL(G) on multivariate analysis. The extent of regional myocardial fibrosis is associated with regional myocardial function independently of morphological changes of the myocardium, and the correlation extended to global LV function. In this context, DHE may be a useful parameter to discover early myocardial dysfunction independently of LV hypertrophy.

  12. T1 mapping in children and young adults with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Parekh, Keyur; Markl, Michael; Deng, Jie; de Freitas, Roger A; Rigsby, Cynthia K

    2017-01-01

    To assess the global and segmental left ventricular (LV) native T1 and extracellular volume fraction (ECV) in children and young adults with hypertrophic cardiomyopathy (HCM) compared to a control cohort. The study population included 21 HCM patients (mean 14.1 ± 4.6 years) and 21 controls (mean 15.7 ± 1.5 years). Native modified Look-Locker inversion recovery sequence was performed before and after contrast injection in 3 short axis planes. Global and segmental LV native T1 and ECV were quantified and compared between HCM patients and controls. Mean native T1 in HCM patients and controls was 1020.4 ± 41.2 and 965.6 ± 30.2 ms respectively (p < 0.0001). Hypertrophied myocardium had significantly higher native global T1 and global ECV compared to non-hypertrophied myocardium in HCM (p < 0.0001, = 0.14 and 0.048, = 0.01 respectively). In a subset of patients, ECV was higher in LV segments with LGE compared to no LGE (p < 0.0001). No significant correlation was identified between global native T1 and ECV and parameters of LV structure and function. Native T1 cut-off of 987 ms provided the highest sensitivity (95 %) and specificity (91 %) to separate HCM patients from controls. Global and segmental native T1 are elevated in HCM patients. LV segments with hypertrophy and/or LGE had higher ECV in a subset of HCM patients. LV native T1 and ECV do not correlate with parameters of LV structure and function. T1 in children and young adults may be used as a non-invasive tool to assess for HCM and related fibrosis.

  13. Surgery of Hypertrophic Obstructive Cardiomyopathy in Patients With Severe Hypertrophy, Myocardial Fibrosis and Ventricular Tachycardia.

    Science.gov (United States)

    Borisov, Konstantin V

    2018-03-10

    In patients with hypertrophic obstructive cardiomyopathy myocardial fibrosis is an independent predictor of adverse outcome. A new technique of HOCM surgical correction in patients with severe hypertrophy and septal myocardial fibrosis has been proposed. The excision of the asymmetrical hypertrophied area of the interventricular septum causing obstruction was performed from the conal part of the right ventricle corresponding to the zone of obstruction of the left ventricle (LV). The areas of septal myocardial fibrosis were removed corresponding to the zone of delayed enhancement imaging. Myocardial fibrosis was detected by cardiovascular magnetic resonance. Eleven HOCM patients with severe hypertrophy, myocardial fibrosis and episodes of ventricular tachycardia underwent this procedure. Five patients had biventricular obstruction. The follow-up period was 39±9 months. Ten patients were free of symptoms (NYHA class 1) and one patient had only mild limitations. The mean echocardiographic gradient in LV decreased from 88.9±10.0 to 9.7±2.1 mmHg, the mean value of gradient in right ventricular outflow tract (RVOT) was reduced from 45.2±4.7 to 3.8±1.3 mmHg. Echocardiographically determined septal thickness was reduced from 34.5±3.8 to 15.5±1.6 mm. Sinus rhythm without block of His bundle right branch was noted in all patients after surgery. Ventricular tachycardia was not registered. The benefits of applying our technique include effective surgical treatment of HOCM patients with severe hypertrophy and biventricular obstruction. It may be an appropriate choice for HOCM patients with septal myocardial fibrosis. Copyright © 2018 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  14. Helical distribution of hypertrophy in patients with hypertrophic cardiomyopathy: prevalence and clinical implications.

    Science.gov (United States)

    Viliani, Dafne; Pozo, Eduardo; Aguirre, Norma; Cecconi, Alberto; Olivera, María J; Caballero, Paloma; Jiménez-Borreguero, Luis J; Alfonso, Fernando

    2017-11-01

    Recently a novel pattern of helical distribution of hypertrophy has been described in patients with hypertrophic cardiomyopathy (HCM). Our aim was to determine its prevalence and potential implications in an unselected cohort. One-hundred- and eight consecutive patients diagnosed with HCM by cardiac magnetic resonance (CMR) were included (median clinical follow up of 1718 days). All clinical and complementary test information was prospectively collected. The presence of a helical pattern was assessed by a simple measurement of the maximal left ventricle (LV) wall thickness (LVWT) for each of the 17 classical LV segments and it was classified in one of three types according to its extension. A helical distribution was detected in 58% of patients, and was associated to a higher incidence of left ventricular outflow tract obstruction (LVOT; 35% vs. 10%; p = 0.005) and systolic anterior motion of the mitral valve (SAM; 30% vs. 13%, p = 0.053). No significant difference in the maximal LVWT was observed. However, the presence of a helical pattern showed a significant association with non sustained ventricular tachycardia (NSVT; 22% vs. 7%; p = 0.029) and was associated to a higher risk of sudden cardiac death (SCD) calculated with the European society of cardiology (ESC) calculator (p = 0.006). Notably, patients with a more extense spiral had a higher incidence of heart failure (75% vs. 34%, p = 0.012) and all-cause death (21 vs. 3%, p = 0.049). A helical pattern is frequent in HCM and can be readily assessed on CMR standard cine sequences. In conclusion, a helical pattern carries negative clinical implications and is associated to a higher estimated risk of SCD.

  15. MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients.

    Science.gov (United States)

    Mouton, J M; van der Merwe, L; Goosen, A; Revera, M; Brink, P A; Moolman-Smook, J C; Kinnear, C

    2016-05-01

    Left ventricular hypertrophy is a risk factor for cardiovascular morbidity and mortality. Hypertrophic cardiomyopathy (HCM) is considered a model disease to study causal molecular factors underlying isolated cardiac hypertrophy. However, HCM manifests with various clinical symptoms, even in families bearing the same genetic defects, suggesting that additional factors contribute to hypertrophy. The gene encoding the cardiac myosin binding protein C (cMYBPC) is one of the most frequently implicated genes in HCM. Recently another myosin binding protein, myosin binding protein H (MYBPH) was shown to function in concert with cMYBPC in regulating cardiomyocyte contraction. Given the similarity in sequence, structure and the critical role MYBPH plays in sarcomere contraction, we proposed that MYBPH may be involved in HCM pathogenesis. Family-based genetic association analysis was employed to investigate the contribution of MYBPH in modifying hypertrophy. Seven single nucleotide polymorphisms and haplotypes in MYBPH were investigated for hypertrophy modifying effects in 388 individuals (27 families), in which three unique South African HCM-causing founder mutations (p.R403W and pA797T in β-myosin heavy chain gene (MYH7) and p.R92W in the cardiac troponin T gene (TNNT2)) segregate. We observed a significant association between rs2250509 and hypertrophy traits in the p.A797T MYH7 mutation group. Additionally, haplotype GGTACTT significantly affected hypertrophy within the same mutation group. MYBPH was for the first time assessed as a candidate hypertrophy modifying gene. We identified a novel association between MYBPH and hypertrophy traits in HCM patients carrying the p.A797T MYH7 mutation, suggesting that variation in MYBPH can modulate the severity of hypertrophy in HCM.

  16. Utility of coronary CT angiography in outpatients with hypertrophic cardiomyopathy presenting with angina symptoms.

    Science.gov (United States)

    Shariat, Masoud; Thavendiranathan, Paaladinesh; Nguyen, Elsie; Wintersperger, Bernd; Paul, Narinder; Rakowski, Harry; Crean, Andrew M

    2014-01-01

    Angina is a frequent symptom in patients with hypertrophic cardiomyopathy (HCM); however, it is often not because of significant epicardial coronary artery stenosis. Coronary CT angiography (CCTA) is an excellent modality to rule out significant coronary artery stenosis in the low- and intermediate-risk patients; however, its value in patients with HCM has not been explored. We sought to assess the utility of CCTA in the assessment of patients with HCM and stable anginal symptoms and compare the incidence of epicardial coronary artery stenosis to an age- and gender-matched control group. Consecutive outpatients with HCM referred for CCTA over a 3-year period because of stable anginal symptoms (chest pain or shortness of breath) were identified retrospectively. Age- and gender-matched patients without HCM referred for CCTA because of similar symptoms over a 6-month period were used as controls. All patients had CCTA using an Aquilion ONE 320 scanner. The coronary arteries were evaluated independently by 2 blinded observers, and any luminal narrowing was scored quantitatively as follows: >70% = severe; 50% to 70% = moderate; symptoms in patients with HCM. The incidence of moderate-to-severe coronary artery stenosis was significantly lower in our HCM patients in comparison to our age-matched, gender-matched, and risk factor-matched control group. Given the high incidence of false-positive findings on perfusion stress studies, we propose that CCTA may be useful for appropriate triage to coronary angiography in the HCM patient with anginal symptoms. Copyright © 2014 Society of Cardiovascular Computed Tomography. Published by Elsevier Inc. All rights reserved.

  17. Positron computed tomography for myocardial uptake of N-13 ammonia in patients with hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Yoshida, Katsuya; Himi, Toshiharu; Imai, Hitoshi; Shukuya, Masaki; Masuda, Yoshiaki; Inagaki, Yoshiaki; Yamasaki, Toshiro; Tateno, Yukio.

    1985-01-01

    In the present study, positron computed tomography (PCT) was used to evaluate the myocardial uptake of N-13 ammonia in patients with hypertrophic cardiomyopathy (HCM). Eight subjects including two normal persons, four patients with HCM, and two with old myocardial farction (OMI) were selected for the study. N-13 ammonia was administered intravenously as a bolus and, commencing with the tracer injection, serial 30-second PCT scans were performed. The results were summarized as follows: 1. The first scan exhibiting cardiac blood pool images revealed a reduced left ventricular cavity in the HCM subjects. 2. After clearance of N-13 from the cardiopulmonary vasculature, the left ventricular myocardium was clearly visualized and an increased myocardial mass with characteristic morphology was demonstrated in the HCM subjects. 3. Detailed analysis of the time-activity curves of the blood pool and myocardium derived from these serial scan images disclosed two uptake phases in the uptake mode of N-13 ammonia. In the initial phase within three minutes, the myocardial uptake of N-13 was rapid in the normal and OMI subjects, whereas its significant delay was observed in the HCM subjects. This may reflect an abnormal initial extraction of N-13 ammonia in the HCM patients compared with the other subjects. 4. Subsequently, in the second phase, which was characterized by a gradual increase of N-13 in the myocardium, the HCM subjects revealed higher uptake ratios than did the others. This may indicate an increased extraction of metabolites of N-13 ammonia during the second phase. These preliminary results undersore the usefulness of dynamic PCT with N-13 ammonia for the assessment of HCM. (author)

  18. Body size and metabolic differences in Maine Coon cats with and without hypertrophic cardiomyopathy.

    Science.gov (United States)

    Freeman, Lisa M; Rush, John E; Meurs, Kathryn M; Bulmer, Barret J; Cunningham, Suzanne M

    2013-02-01

    An interplay between growth, glucose regulation and hypertrophic cardiomyopathy (HCM) may exist, but has not been studied in detail. The purpose of this study was to characterize morphometric features, insulin-like growth factor-1 (IGF-1) and glucose metabolism in Maine Coon cats with HCM. Body weight, body condition score (BCS), head length and width, and abdominal circumference were measured in Maine Coon cats >2 years of age. Echocardiography and thoracic radiography (for measurement of humerus length, and fourth and twelfth vertebrae length) were also performed. Blood was collected for biochemistry profile, DNA testing, insulin and IGF-1. Sixteen of 63 cats had HCM [myosin binding protein C (MYBPC)+, n = 3 and MYBPC-, n = 13] and 47/63 were echocardiographically normal (MYBPC+, n = 17 and MYBPC-, n = 30). There were no significant differences in any measured parameter between MYBPC+ and MYBPC- cats. Cats with HCM were significantly older (P Cats with HCM also had higher serum glucose (P = 0.01), homeostasis model assessment (HOMA) and IGF-1 (P = 0.01) concentrations, were from smaller litters (P = 0.04), and were larger at 6 months (P = 0.02) and at 1 year of age (P = 0.03). Multivariate analysis revealed that age (P <0.001), BCS (P = 0.03) and HOMA (P = 0.047) remained significantly associated with HCM. These results support the hypothesis that early growth and nutrition, larger body size and obesity may be environmental modifiers of genetic predisposition to HCM. Further studies are warranted to evaluate the effects of early nutrition on the phenotypic expression of HCM.

  19. Factors Influencing the Phenotypic Expression of Hypertrophic Cardiomyopathy in Genetic Carriers.

    Science.gov (United States)

    Pérez-Sánchez, Inmaculada; Romero-Puche, Antonio José; García-Molina Sáez, Esperanza; Sabater-Molina, María; López-Ayala, José María; Muñoz-Esparza, Carmen; López-Cuenca, David; de la Morena, Gonzalo; Castro-García, Francisco José; Gimeno-Blanes, Juan Ramón

    2018-03-01

    Hypertrophic cardiomyopathy (HCM) is a disorder with variable expression. It is mainly caused by mutations in sarcomeric genes but the phenotype could be modulated by other factors. The aim of this study was to determine whether factors such as sex, systemic hypertension, or physical activity are modifiers of disease severity and to establish their role in age-related penetrance of HCM. We evaluated 272 individuals (mean age 49 ± 17 years, 57% males) from 72 families with causative mutations. The relationship between sex, hypertension, physical activity, and left ventricular hypertrophy was studied. The proportion of affected individuals increased with age. Men developed the disease 12.5 years earlier than women (adjusted median, 95%CI, -17.52 to -6.48; P < .001). Hypertensive patients were diagnosed with HCM later (10.8 years of delay) than normotensive patients (adjusted median, 95%CI, 6.28-17.09; P < .001). Individuals who performed physical activity were diagnosed with HCM significantly earlier (7.3 years, adjusted median, 95%CI, -14.49 to -1.51; P = .016). Sex, hypertension, and the degree of physical activity were not significantly associated with the severity of left ventricular hypertrophy. Adjusted survival both free from sudden death and from the combined event were not influenced by any of the exploratory variables. Men and athletes who are carriers of sarcomeric mutations are diagnosed earlier than women and sedentary individuals. Hypertensive carriers of sarcomeric mutations have a delayed diagnosis. Sex, hypertension, and physical activity are not associated with disease severity in carriers of HCM causative mutations. Copyright © 2017 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

  20. The association between brain natriuretic peptide and tissue Doppler parameters in children with hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Taliha Öner

    2016-01-01

    Full Text Available In this study, we investigated the association between brain natriuretic peptide (BNP levels and tissue Doppler imaging measurements and also screening for deadly mutations in patients with hypertrophic cardiomyopathy (HCM. We enrolled 20 patients diagnosed with HCM (age:10.7±5 years (1-17, 85% male, weight:42.25±23.10 kg, height:141.80±32.45 cm and 20 age, gender and body weight-matched control subjects. We performed electrocardiography, transthoracic echocardiography, and tissue Doppler echocardiography in each group, as well as genetic tests (for Arg403Gln, Arg453Cys, Arg719Trp and Arg719Gln mutations in MYH7 Exons 13, 14, 19 and BNP in the patients. The patients were divided into two groups according to the presence (Group 1 or absence (Group 2 of left ventricular (LV outflow tract obstruction. QTc dispersion and the LV ejection fraction and left atrial (LA volume index were increased in Group 1. The LA volume index and the mitral and septal E/Ea ratio and septum Z-score were increased while the mitral lateral annulus and septal annulus Ea wave velocities and the mitral and tricuspid E/A ratio were decreased in patients with high levels of BNP compared to those with normal BNP levels. There were no mutations that are associated with increased risk of sudden death found in patients included in this study. In the light of our data, we conclude that such parameters BNP levels above the 98 pg/mL, septal thickness Z-score ˃6, and higher mitral and septal E/Ea ratios can be used for management of patients with HCM according to life-threatening conditions.

  1. Comparison of different quantification methods of late gadolinium enhancement in patients with hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Spiewak, Mateusz, E-mail: mspiewak@ikard.p [First Department of Coronary Artery Disease, Magnetic Resonance Unit, Institute of Cardiology, ul. Alpejska 42, 04-628 Warsaw (Poland); Malek, Lukasz A., E-mail: lmalek@ikard.p [First Department of Coronary Artery Disease, Magnetic Resonance Unit, Institute of Cardiology, ul. Alpejska 42, 04-628 Warsaw (Poland); Misko, Jolanta, E-mail: jmisko@wp.p [Magnetic Resonance Unit, Institute of Cardiology, ul. Alpejska 42, 04-628 Warsaw (Poland); Chojnowska, Lidia, E-mail: lchojnowska@ikard.p [First Department of Coronary Artery Disease, Institute of Cardiology, ul. Alpejska 42, 04-628 Warsaw (Poland); Milosz, Barbara, E-mail: barbara-milosz@tlen.p [Magnetic Resonance Unit, Institute of Cardiology, ul. Alpejska 42, 04-628 Warsaw (Poland); Klopotowski, Mariusz, E-mail: mklopotowski@hotmail.co [First Department of Coronary Artery Disease, Institute of Cardiology, ul. Alpejska 42, 04-628 Warsaw (Poland); Petryka, Joanna, E-mail: joannapetryka@hotmail.co [First Department of Coronary Artery Disease, Magnetic Resonance Unit, Institute of Cardiology, ul. Alpejska 42, 04-628 Warsaw (Poland); Dabrowski, Maciej, E-mail: macidabro@yahoo.co [First Department of Coronary Artery Disease, Institute of Cardiology, ul. Alpejska 42, 04-628 Warsaw (Poland); Kepka, Cezary, E-mail: ckepka@ikard.p [First Department of Coronary Artery Disease, Magnetic Resonance Unit, Institute of Cardiology, ul. Alpejska 42, 04-628 Warsaw (Poland); Ruzyllo, Witold, E-mail: w.ruzyllo@ikard.p [First Department of Coronary Artery Disease, Institute of Cardiology, ul. Alpejska 42, 04-628 Warsaw (Poland)

    2010-06-15

    Aim: There is no consensus regarding the technique of quantification of late gadolinium enhancement (LGE). The aim of the study was to compare different methods of LGE quantification in patients with hypertrophic cardiomyopathy (HCM). Methods: Cardiac magnetic resonance was performed in 33 patients with HCM. First, LGE was quantified by visual assessment by the team of experienced readers and compared with different thresholding techniques: from 1SD to 6SD above mean signal intensity (SI) of remote myocardium, above 50% of maximal SI of the enhanced area (full-width at half maximum, FWHM) and above peak SI of remote myocardium. Results: LGE was present in 25 (78%) of patients. The median mass of LGE varied greatly depending on the quantification method used and was highest with the utilization of 1SD threshold [75.5 g, interquartile range (IQR): 63.3-112.3 g] and lowest for FWHM method (8.4 g, IQR: 4.3-13.3 g). There was no difference in mass of LGE as assessed with 6SD threshold and FWHM when compared to visual assessment (p = 0.19 and p = 0.1, respectively); all other thresholding techniques provided significant differences in the median LGE size when compared to visual analysis. Results for all thresholds, except FWHM were significantly correlated with visual assessment with the strongest correlation for 6SD (rho = 0.956, p < 0.0001). Conclusions: LGE quantification with the use of a threshold of 6SD above the mean SI of the remote myocardium provided the best agreement with visual assessment in patients with HCM.

  2. Identification of high risk patients with hypertrophic cardiomyopathy in a northern Greek population

    Directory of Open Access Journals (Sweden)

    Karvounis Charalambos

    2009-07-01

    Full Text Available Abstract Background The percentage of hypertrophic cardiomyopathy (HCM patients who are in high risk for Sudden Death (SD constitutes only a minority of all HCM population but the incidence of SD in this subset is high (at least 5% annually. The identification of this small but important proportion of high risk HCM patients has been the clue in the clinical evaluation of these patients. Methods Our study cohort consisted from 123 patients with HCM who are currently followed up in our Institution. Five clinical risk factors were assessed: a family history of premature SD, unexplained syncope, Non Sustained Ventricular Tachycardia (NSVT on 24-h ECG monitoring, Abnormal Blood Pressure Response (ABPR during upright exercise testing and Maximum left ventricular Wall Thickness (MWT ≥30 mm. The purpose of our study was the identification of high risk HCM patients coming from Northern Greece. Results Fifteen patients (12.2% of the whole cohort had MWT ≥ 30 mm, 30 patients (24.4% had an ABPR to exercise, 17 patients (13.8% had episodes of NSVT in 24-h Holter monitoring, 17 patients (13.8% suffered from syncope, and 8 patients (6.5% had a positive family history of premature SD. Data analysis revealed that 74 patients (60.1% had none risk factor. Twenty four patients (19.5% had 1 risk factor, 17 patients (13.8% had 2 risk factors, 4 patients (3.25% had 3 risk factors, and 4 patients (3.25% had 4 risk factors, while none patient had 5 risk factors. Twenty five patients (20.3% had 2 or more risk factors. Conclusion This study for the first time confirms that, although a 60% of patients with HCM coming from a regional Greek population are in low risk for SD, a substantial proportion (almost 20% carries a high risk for SD justifying prophylactic therapy with amiodaron or ICD implantation.

  3. Recent Advances in the Molecular Genetics of Familial Hypertrophic Cardiomyopathy in South Asian Descendants

    Directory of Open Access Journals (Sweden)

    Jessica Kraker

    2016-10-01

    Full Text Available The South Asian population, numbered at 1.8 billion, is estimated to comprise around 20% of the global population and 1% of the American population, and has one of the highest rates of cardiovascular disease. While South Asians show increased classical risk factors for developing heart failure, the role of population-specific genetic risk factors has not yet been examined for this group. Hypertrophic cardiomyopathy (HCM is one of the major cardiac genetic disorders among South Asians, leading to contractile dysfunction, heart failure, and sudden cardiac death. This disease displays autosomal dominant inheritance, and it is associated with a large number of variants in both sarcomeric and non-sarcomeric proteins. South Asians, a population with large ethnic diversity, potentially carries region-specific polymorphisms. There is high variability in disease penetrance and phenotypic expression of variants associated with HCM. Thus, extensive studies are required to decipher pathogenicity and the physiological mechanisms of these variants, as well as the contribution of modifier genes and environmental factors to disease phenotypes. Conducting genotype-phenotype correlation studies will lead to improved understanding of HCM and, consequently, improved treatment options for this high-risk population. The objective of this review is to report the history of cardiovascular disease and HCM in South Asians, present previously published pathogenic variants, and introduce current efforts to study HCM using induced pluripotent stem cell-derived cardiomyocytes, next-generation sequencing, and gene editing technologies. The authors ultimately hope that this review will stimulate further research, drive novel discoveries, and contribute to the development of personalized medicine with the aim of expanding therapeutic strategies for HCM.

  4. Reproducibility of Gadolinium Enhancement Patterns and Wall Thickness in Hypertrophic Cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Rodriguez-Granillo, Gaston A., E-mail: grodriguezgranillo@gmail.com; Deviggiano, Alejandro; Capunay, Carlos; Zan, Macarena C. De; Carrascosa, Patricia [Department of Cardiovascular Imaging - Diagnóstico Maipú, Buenos Aires (Argentina)

    2016-07-15

    Reproducibility data of the extent and patterns of late gadolinium enhancement (LGE) in hypertrophic cardiomyopathy (HCM) is limited. To explore the reproducibility of regional wall thickness (WT), LGE extent, and LGE patterns in patients with HCM assessed with cardiac magnetic resonance (CMR). The extent of LGE was assessed by the number of segments with LGE, and by the total LV mass with LGE (% LGE); and the pattern of LGE-CMR was defined for each segment. A total of 42 patients (672 segments) with HCM constituted the study population. The mean WT measurements showed a mean difference between observers of -0.62 ± 1.0 mm (6.1%), with limits of agreement of 1.36 mm; -2.60 mm and intraclass correlation coefficient (ICC) of 0.95 (95% CI 0.93-0.96). Maximum WT measurements showed a mean difference between observers of -0.19 ± 0.8 mm (0.9%), with limits of agreement of 1.32 mm; -1.70 mm, and an ICC of 0.95 (95% CI 0.91-0.98). The % LGE showed a mean difference between observers of -1.17 ± 1.2 % (21%), with limits of agreement of 1.16%; -3.49%, and an ICC of 0.94 (95% CI 0.88-0.97). The mean difference between observers regarding the number of segments with LGE was -0.40 ± 0.45 segments (11%), with limits of agreement of 0.50 segments; -1.31 segments, and an ICC of 0.97 (95% CI 0.94-0.99). The number of segments with LGE might be more reproducible than the percent of the LV mass with LGE.

  5. Late enhanced computed tomography in Hypertrophic Cardiomyopathy enables accurate left-ventricular volumetry

    Energy Technology Data Exchange (ETDEWEB)

    Langer, Christoph; Lutz, M.; Kuehl, C.; Frey, N. [Christian-Albrechts-Universitaet Kiel, Department of Cardiology, Angiology and Critical Care Medicine, University Medical Center Schleswig-Holstein (Germany); Partner Site Hamburg/Kiel/Luebeck, DZHK (German Centre for Cardiovascular Research), Kiel (Germany); Both, M.; Sattler, B.; Jansen, O; Schaefer, P. [Christian-Albrechts-Universitaet Kiel, Department of Diagnostic Radiology, University Medical Center Schleswig-Holstein (Germany); Harders, H.; Eden, M. [Christian-Albrechts-Universitaet Kiel, Department of Cardiology, Angiology and Critical Care Medicine, University Medical Center Schleswig-Holstein (Germany)

    2014-10-15

    Late enhancement (LE) multi-slice computed tomography (leMDCT) was introduced for the visualization of (intra-) myocardial fibrosis in Hypertrophic Cardiomyopathy (HCM). LE is associated with adverse cardiac events. This analysis focuses on leMDCT derived LV muscle mass (LV-MM) which may be related to LE resulting in LE proportion for potential risk stratification in HCM. N=26 HCM-patients underwent leMDCT (64-slice-CT) and cardiovascular magnetic resonance (CMR). In leMDCT iodine contrast (Iopromid, 350 mg/mL; 150mL) was injected 7 minutes before imaging. Reconstructed short cardiac axis views served for planimetry. The study group was divided into three groups of varying LV-contrast. LeMDCT was correlated with CMR. The mean age was 64.2 ± 14 years. The groups of varying contrast differed in weight and body mass index (p < 0.05). In the group with good LV-contrast assessment of LV-MM resulted in 147.4 ± 64.8 g in leMDCT vs. 147.1 ± 65.9 in CMR (p > 0.05). In the group with sufficient contrast LV-MM appeared with 172 ± 30.8 g in leMDCT vs. 165.9 ± 37.8 in CMR (p > 0.05). Overall intra-/inter-observer variability of semiautomatic assessment of LV-MM showed an accuracy of 0.9 ± 8.6 g and 0.8 ± 9.2 g in leMDCT. All leMDCT-measures correlated well with CMR (r > 0.9). LeMDCT primarily performed for LE-visualization in HCM allows for accurate LV-volumetry including LV-MM in > 90 % of the cases. (orig.)

  6. MYBPC3 hypertrophic cardiomyopathy can be detected by using advanced ECG in children and young adults.

    Science.gov (United States)

    Fernlund, E; Liuba, P; Carlson, J; Platonov, P G; Schlegel, T T

    2016-01-01

    The conventional ECG is commonly used to screen for hypertrophic cardiomyopathy (HCM), but up to 25% of adults and possibly larger percentages of children with HCM have no distinctive abnormalities on the conventional ECG, whereas 5 to 15% of healthy young athletes do. Recently, a 5-min resting advanced 12-lead ECG test ("A-ECG score") showed superiority to pooled criteria from the strictly conventional ECG in correctly identifying adult HCM. The purpose of this study was to evaluate whether in children and young adults, A-ECG scoring could detect echocardiographic HCM associated with the MYBPC3 genetic mutation with greater sensitivity than conventional ECG criteria and distinguish healthy young controls and athletes from persons with MYBPC3 HCM with greater specificity. Five-minute 12-lead ECGs were obtained from 15 young patients (mean age 13.2years, range 0-30years) with MYBPC3 mutation and phenotypic HCM. The conventional and A-ECG results of these patients were compared to those of 198 healthy children and young adults (mean age 13.2, range 1month-30years) with unremarkable echocardiograms, and to those of 36 young endurance-trained athletes, 20 of whom had athletic (physiologic) left ventricular hypertrophy. Compared with commonly used, age-specific pooled criteria from the conventional ECG, a retrospectively generated A-ECG score incorporating results from just 2 derived vectorcardiographic parameters (spatial QRS-T angle and the change in the vectorcardiographic QRS azimuth angle from the second to the third eighth of the QRS interval) increased the sensitivity of ECG for identifying MYBPC3 HCM from 46% to 87% (pECG criteria; pECG criteria, pECG score is retrospectively significantly more sensitive and specific than pooled, age-specific conventional ECG criteria for detecting MYBPC3-HCM and in distinguishing such patients from healthy controls, including endurance-trained athletes. Copyright © 2016 Elsevier Inc. All rights reserved.

  7. Prognostic Implications of Defibrillation Threshold Testing in Patients With Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Francia, Pietro; Adduci, Carmen; Semprini, Lorenzo; Palano, Francesca; Santini, Daria; Musumeci, Beatrice; Santolamazza, Caterina; Volpe, Massimo; Autore, Camillo

    2017-01-01

    In hypertrophic cardiomyopathy (HCM) patients the need for defibrillation threshold (DFT) testing at the time of ICD implantation is debated. Moreover, its prognostic implications have never been explored. In a cohort of HCM patients we sought to (a) investigate factors prompting DFT testing, (b) evaluate ICD efficacy by testing DFT, (c) compare DFT in patients with and without massive LVH, and (d) assess whether DFT testing predicts shock efficacy for spontaneous VT/VF. We retrospectively analyzed a cohort of HCM patients implanted with an ICD. DFT was tested at the discretion of the implanting physician with a 10 J safety margin. During follow-up, ICD interventions were evaluated. The study population included 66 patients. DFT was determined in 25 (38%) patients. Age (HR: 0.95; 95%CI: 0.92-0.98; P = 0.004) and massive LVH (HR: 6.0; 95%CI: 2.03-18.8; P = 0.001) affected the decision to test DFT. DFT was at least 10 J less than maximal ICD output in 25/25. Safety margin was similar among patients with and without massive LVH (15 ± 3 J vs. 14 ± 2 J; P = 0.42). During follow-up (median 53 months) 15 shocks were delivered for 12 VT/VF in 7 patients. One VF ended spontaneously after a failed shock. Of 4 unsuccessful shocks, 2 occurred in 1 patient with DFT testing and 2 were delivered in 2 patients without. All unsuccessful shocks were ≤35 J. Young age and massive LVH prompt DFT testing. Contemporary ICDs are safe and effective in HCM patients independently from the magnitude of LVH. DFT testing does not predict shock efficacy for spontaneous VT/VF. © 2016 Wiley Periodicals, Inc.

  8. Prognostic significance of radionuclide-assessed diastolic function in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Chikamori, T.; Dickie, S.; Poloniecki, J.D.; Myers, M.J.; Lavender, J.P.; McKenna, W.J.

    1990-01-01

    To evaluate the prognostic significance of diastolic function in hypertrophic cardiomyopathy (HC), technetium-99m gated equilibrium radionuclide angiography, acquired in list mode, was performed in 161 patients. Five diastolic indexes were calculated. During 3.0 +/- 1.9 years, 13 patients had disease-related deaths. With univariate analysis, these patients were younger (29 +/- 20 vs 42 +/- 16 years; p less than 0.05), had a higher incidence of syncope (p less than 0.025), dyspnea (p less than 0.001), reduced peak filling rate (2.9 +/- 0.9 vs 3.4 +/- 1.0 end-diastolic volume/s; p = 0.09) with increased relative filling volume during the rapid filling period (80 +/- 7 vs 75 +/- 12%; p = 0.06) and decreased atrial contribution (17 +/- 7 vs 22 +/- 11%; p = 0.07). Stepwise discriminant analysis revealed that young age at diagnosis, syncope at diagnosis, reduced peak ejection rate, positive family history, reduced peak filling rate, increased relative filling volume by peak filling rate and concentric left ventricular hypertrophy were the most statistically significant (p = 0.0001) predictors of disease-related death (sensitivity 92%, specificity 76%, accuracy 77%, positive predictive value 25%). Discriminant analysis excluding the diastolic indexes, however, showed similar predictability (sensitivity 92%, specificity 76%, accuracy 78%, positive predictive value 26%). To obtain more homogeneous groups for analysis, patients were classified as survivors or electrically unstable, including sudden death, out-of-hospital ventricular fibrillation and nonsustained ventricular tachycardia during 48-hour ambulatory electrocardiography, and heart failure death or cardiac transplant

  9. Implantable Cardioverter-defibrillator Therapy for Hypertrophic Cardiomyopathy: Usefulness in Primary and Secondary Prevention.

    Science.gov (United States)

    Sarrias, Axel; Galve, Enrique; Sabaté, Xavier; Moya, Àngel; Anguera, Ignacio; Núñez, Elaine; Villuendas, Roger; Alcalde, Óscar; García-Dorado, David

    2015-06-01

    Hypertrophic cardiomyopathy is a frequent cause of sudden death. Clinical practice guidelines indicate defibrillator implantation for primary prevention in patients with 1 or more risk factors and for secondary prevention in patients with a history of aborted sudden death or sustained ventricular arrhythmias. The aim of the present study was to analyze the follow-up of patients who received an implantable defibrillator following the current guidelines in nonreferral centers for this disease. This retrospective observational study included all patients who underwent defibrillator implantation between January 1996 and December 2012 in 3 centers in the province of Barcelona. The study included 69 patients (mean age [standard deviation], 44.8 [17] years; 79.3% men), 48 in primary prevention and 21 in secondary prevention. The mean number of risk factors per patient was 1.8 in the primary prevention group and 0.5 in the secondary prevention group (P=.029). The median follow-up duration was 40.5 months. The appropriate therapy rate was 32.7/100 patient-years in secondary prevention and 1.7/100 patient-years in primary prevention (P<.001). Overall mortality was 10.1%. Implant-related complications were experienced by 8.7% of patients, and 13% had inappropriate defibrillator discharges. In patients with a defibrillator for primary prevention, the appropriate therapy rate is extremely low, indicating the low predictive power of the current risk stratification criteria. Copyright © 2014 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

  10. Formin Homology 2 Domain Containing 3 (FHOD3) Variants Associated with Hypertrophic Cardiomyopathy

    Science.gov (United States)

    Wooten, Eric C.; Hebl, Virginia Bartleson; Wolf, Matthew J.; Greytak, Sarah R.; Orr, Nicole; Draper, Isabelle; Calvino, Jenna E.; Kapur, Navin K.; Maron, Martin S.; Kullo, Iftikhar J.; Ommen, Steve R.; Bos, J. Martijn; Ackerman, Michael J.; Huggins, Gordon S.

    2013-01-01

    Background Incomplete penetrance and variable expression of Hypertrophic Cardiomyopathy (HCM) is well appreciated. Common genetic polymorphisms variants that may affect HCM penetrance and expression have been predicted but are not well established. Methods and Results We performed a case-control genome wide association (GWA) study to identify common HCM-associated genetic polymorphisms and then asked whether such common variants were more represented in HCM or could explain the heterogeneity of HCM phenotypes. We identified an intronic FHOD3 variant (rs516514) associated with HCM (OR = 2.45 (95% CI 1.76–3.41), p=1.25 × 10−7) and validated this finding in an independent cohort. Next, we tested FHOD3-V1151I (rs2303510), a non-synonymous variant in partial linkage disequilibrium (LD) with rs516514, and we detected an even stronger association with HCM (p=1.76 × 10−9). While HCM patients were more likely to carry these FHOD3 alleles subjects homozygous for FHOD3-1151I had similar HCM phenotypes as carriers of the V1151 allele. FHOD3 expression is increased in the setting of HCM and both alleles of FHOD3-V1151I were detected in HCM myectomy tissue. Previously FHOD3 was found to be required for formation of the sarcomere and here we demonstrate that its fly homolog fhos is required for normal adult heart systolic contraction. Conclusions Here we demonstrate the association of a common non-synonymous FHOD3 genetic variant with HCM. This discovery further strengthens the potential role of gene mutations and polymorphisms that alter the amino acid sequence of sarcomere proteins and HCM. PMID:23255317

  11. Formin homology 2 domain containing 3 variants associated with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Wooten, Eric C; Hebl, Virginia B; Wolf, Matthew J; Greytak, Sarah R; Orr, Nicole M; Draper, Isabelle; Calvino, Jenna E; Kapur, Navin K; Maron, Martin S; Kullo, Iftikhar J; Ommen, Steve R; Bos, J Martijn; Ackerman, Michael J; Huggins, Gordon S

    2013-02-01

    Incomplete penetrance and variable expression of hypertrophic cardiomyopathy (HCM) is well appreciated. Common genetic polymorphisms variants that may affect HCM penetrance and expression have been predicted but are not well established. We performed a case-control genomewide association study to identify common HCM-associated genetic polymorphisms and then asked whether such common variants were more represented in HCM or could explain the heterogeneity of HCM phenotypes. We identified an intronic FHOD3 variant (rs516514) associated with HCM (odds ratio, 2.45; 95% confidence interval, 1.76-3.41; P=1.25×10(-7)) and validated this finding in an independent cohort. Next, we tested FHOD3-V1151I (rs2303510), a nonsynonymous variant in partial linkage disequilibrium with rs516514, and we detected an even stronger association with HCM (P=1.76×10(-9)). Although HCM patients were more likely to carry these, FHOD3 allele subjects homozygous for FHOD3-1151I had similar HCM phenotypes as carriers of the V1151 allele. FHOD3 expression is increased in the setting of HCM, and both alleles of FHOD3-V1151I were detected in HCM myectomy tissue. Previously, FHOD3 was found to be required for formation of the sarcomere, and here we demonstrate that its fly homolog fhos is required for normal adult heart systolic contraction. Here we demonstrate the association of a common nonsynonymous FHOD3 genetic variant with HCM. This discovery further strengthens the potential role of gene mutations and polymorphisms that alter the amino acid sequence of sarcomere proteins and HCM.

  12. Left Ventricular Systolic Dyssynchrony in Patients with Hypertrophic Cardiomyopathy: The prevalence and its Relation to Syncope

    Directory of Open Access Journals (Sweden)

    N Behzadnia

    2010-12-01

    Full Text Available Background: The distribution and magnitude of left ventricularhypertrophy (LVH are not uniform in patients with hypertrophic cardiomyopathy (HCM , which results in regional heterogeneity of left ventricular ( LVsystolic function. The aim of this study was to evaluate LV regional systolicdyssynchrony in patients with HCM by Tissue Doppler Imaging (TDI and to findany correlation between TDI data and syncope.Methods: A total of 44 consecutive patients with HCM are recruited inthe present study. .All patients, underwent complete clinical andechocardiographic evaluation including TDI . The following were measured in 6different basal and 6 mid-myocardial segments: systolic peak velocity(Sm,early diastolic myocardial velocity (Em, pre-contraction time(Q-Sm frombeginning of Q- wave of ECG to the onset of Sm, total asynchrony index,interventricular mechanical delay(difference in Q-Aortic valve opening andQ-Pulmonic valve opening and maximum difference in time to peak systolicvelocity between 2 of 12 segments(ΔPVI.Results: TDI analysis in HCM subgroup with syncope showed bothsignificant interventricular (36.72±26.26 vs 14.74±11.30 msec, P<0.001 andintraventricular delays(39.40±22.38 vs27.70±17.32 msec, P=0.07. The prevalenceof LV systolic dyssynchrony was from 20.5% to 38.6% based on different methods.Patients with syncope had greater impairment of regional systolic and earlydiastolic function, remarkably lower Sm and Em velocities.Conclusion: The impairment of inter and intraventricular systolicsynchronicity is significantly related to syncope in patients with HCM.TDIanalysis may be able to select subgroups of HCM patients at increasing risk ofsyncope and major cardiac events

  13. Orthostatic blood pressure test for risk stratification in patients with hypertrophic cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    Julia Münch

    Full Text Available Hypertrophic cardiomyopathy (HCM is the most common cause of sudden cardiac death (SCD in young adults, mainly ascribed to ventricular tachycardia (VT. Assuming that VT is the major cause of (pre- syncope in HCM patients, its occurrence is essential for SCD risk stratification and primarily preventive ICD-implantation. However, evidence of VT during syncope is often missing. As the differentiation of potential lethal causes for syncope such as VT from more harmless reasons is crucial, HCM patients were screened for orthostatic dysregulation by using a simple orthostatic blood pressure test.Over 15 months (IQR [9;20] 100 HCM patients (55.8±16.2 yrs, 61% male were evaluated for (pre-syncope and VT (24h-ECGs, device-memories within the last five years. Eighty patients underwent an orthostatic blood pressure test. Logistic regression models were used for statistical analysis.In older patients (>40 yrs a positive orthostatic test result increased the chance of (pre- syncope by a factor of 63 (95%-CI [8.8; 447.9], p<0.001; 93% sensitivity, 95%-CI [76; 99]; 74% specificity, 95%-CI [58; 86]. No correlation with VT was shown. A prolonged QTc interval also increased the chance of (pre- syncope by a factor of 6.6 (95%-CI [2.0; 21.7]; p=0.002.The orthostatic blood pressure test is highly valuable for evaluation of syncope and presyncope especially in older HCM patients, suggesting that orthostatic syncope might be more relevant than previously assumed. Considering the high complication rates due to ICD therapies, this test may provide useful information for the evaluation of syncope in individual risk stratification and may help to prevent unnecessary device implantations, especially in older HCM patients.

  14. Comparison of right ventricular contractile abnormalities in hypertrophic cardiomyopathy versus hypertensive heart disease using two dimensional strain imaging: a cross-sectional study.

    Science.gov (United States)

    Afonso, Luis; Briasoulis, Alex; Mahajan, Nitin; Kondur, Ashok; Siddiqui, Fayez; Siddiqui, Sabeeh; Alesh, Issa; Cardozo, Shaun; Kottam, Anupama

    2015-12-01

    Hypertrophic cardiomyopathy (HCM) affects the right ventricle (RV) because of the anatomically hypertrophied septum and plausibly by extension of the myopathic process to the RV. We sought to investigate RV strain in patients with left ventricular hypertrophy secondary to either HCM or hypertension (H-LVH). Our cross-sectional study included 32 patients with HCM, 21 patients with H-LVH, and 11 healthy subjects, who were evaluated with transthoracic echocardiography. Using a dedicated software package, bi-dimensional acquisitions were analyzed to measure segmental longitudinal strain in apical views. Right ventricular global longitudinal strain (GLS) was calculated by averaging septal and right free wall strains. The HCM and H-LVH groups were comparable for age and demographic characteristics. Right ventricular tricuspid annular plane systolic excursion was not significantly different between HCM and H-LVH subjects. Moreover, RV GLS, septal and lateral RV myocardial strain were significantly impaired in patients with HCM (all p 14.9% differentiated HCM and H-LVH with a 90% sensitivity and a 95% specificity (p < 0.001). RV strain parameters are impaired in patients with HCM. Assessment of two-dimensional RV strain parameters could help differentiate between HCM and H-LVH.

  15. A case of hypertrophic obstructive cardiomyopathy in which left ventricular remodeling and reverse remodeling were seen with pacing on and off

    Directory of Open Access Journals (Sweden)

    Taiju Matsui, MD

    2014-04-01

    Full Text Available A 77-year-old woman with hypertrophic obstructive cardiomyopathy was admitted to the hospital in March 2005 with a chief complaint of chest discomfort, and a left ventricular outflow tract (LVOT gradient was seen. After starting apical dual chamber (DDD pacing and oral cibenzoline 300 mg/day to relieve the stenosis, the pressure gradient and subjective symptoms disappeared. The patient was then followed as an outpatient. In January 2008, cibenzoline was discontinued because the patient experienced a hypoglycemic attack. Plain chest radiographs showed an increased cardiothoracic ratio from May 2009 and ventricular remodeling was suspected, although there were no changes in chest symptoms. Therefore, pacing off was considered. Acute changes in the LVOT gradient were evaluated with echocardiography before and after pacing on–off, but no changes were seen, so the course was observed in the pacing-off state. The LVOT gradient gradually increased again from 7 months after pacing off, and the pressure gradient decreased again after pacing was restarted. On the electrocardiogram, a deep negative T wave was seen in V4–6 immediately after pacing off, but with time, it became positive, similar to before an implantable cardioverter defibrillator was inserted. Reverse remodeling was judged to occur after pacing off, and pacing therapy was restarted. The patient is currently under observation.

  16. Ventricular premature contraction in hypertrophic cardiomyopathy and essential hypertension with left ventricular hypertrophy; Comparison of Holter ECG, UCG and stress thallium-201 myocardial scintigraphy findings

    Energy Technology Data Exchange (ETDEWEB)

    Kobiki, Naoki (Okayama Univ. (Japan). School of Medicine)

    1989-10-01

    In order to investigate the relationship of different morbid states of the hypertrophied myocardium to the appearance of ventricular premature contraction (VPC), we compared the VPC findings from Holter ECG with those of UCG and stress thallium-201 myocardial SPECT scintigraphy (stress scinti) in 31 patients with hypertrophic cardiomyopathy (HCM) and 20 with essential hypertension (HT). The HCM patients consisted of 21 with asymmetric hypertrophy (ASH), 3 with symmetric hypertrophy (SH), and 7 with apical hypertrophy (APH). We recognized positive findings on the stress scinti such as fixed perfusion defect (FD) or reversible perfusion defect (RD) in 11 patients (ASH 10, APH 1) out of 31 patients with HCM (35%). Positive findings were observed in only one patient out of 20 with HT (5%). We recognized a high grade VPC (grade 4a and 4b of Lown's criteria) in 8 of 11 scinti positive patients with HCM (ASH 7, APH 1)(73%), while high grade VPC appeared in 5 (all of them are ASH) out of 20 scinti negative patients with HCM (25%). Therefore, these findings suggest that high grade VPCs in HCM occur in relation to a myocardial perfusion defect. (author).

  17. Left ventricular short-axis systolic function changes in patients with hypertrophic cardiomyopathy detected by two-dimensional speckle tracking imaging.

    Science.gov (United States)

    Huang, Jun; Yan, Zi-Ning; Rui, Yi-Fei; Fan, Li; Liu, Chang; Li, Jie

    2018-01-30

    Hypertrophic cardiomyopathy (HCM) is a genetic disease was characterised by left ventricular hypertrophy (LVH), myocardial fibrosis, fiber disarray. The short-axis systolic function is important in left ventricle function. Forty one healthy subjects and 37 HCM patients were enrolled for this research. Parasternal short-axis at the basal, middle, and apical levels were acquired by Echocardiography. The peak systolic circumferential strain of the endocardial, the middle and the epicardial layers, the peak systolic radial strain, and the peak systolic rotational degrees at different short-axis levels were measured by 2-dimensional speckle tracking imaging (2D-STI). The peak systolic circumferential strain of the septum and anterior walls in HCM patients was significantly lower than normal subjects. All of the peak systolic radial strain in HCM patients was significantly lower than normal subjects. The rotational degrees at the base and middle short-axis levels in HCM patients were larger than normal subjects. The interventricular septal thickness in end-diastolic period correlated to the peak systolic circumferential strain of the septum wall. The short-axis systolic function was impaired in HCM patients. The peak circumferential systolic strain of the different layers, peak systolic radial strain and rotation degrees of the different short-axis levels detected by 2D-STI are very feasible for assessing the short-axis function in HCM patients.

  18. Difference in myocardial flow reserve between patients with dilated cardiomyopathy and those with dilated phase of hypertrophic cardiomyopathy. Evaluation by 15O-water PET

    International Nuclear Information System (INIS)

    Ohba, Muneo; Kambara, Naoshige; Hosokawa, Ryohei

    2007-01-01

    The clinical features of patients with the dilated phase of hypertrophic cardiomyopathy (DHCM) may resemble those of patients with dilated cardiomyopathy (DCM); that is, systolic dysfunction and left ventricular dilatation. Myocardial flow reserve (MFR) is impaired in patients with nonischemic cardiomyopathy, and the reduced MFR may be related to poor prognosis. Several studies report that the mortality rate for patients with DHCM is higher than for DCM, but the difference between these 2 cardiomyopathies is still unclear. The purpose of this study was to assess the MFR of these 2 cardiomyopathies, using 15 O-water positron emission tomography (PET) to elucidate their differences. In total 30 patients were investigated: 23 with DCM (Group A) and 7 with DHCM (Group B). All those who were in a stable condition underwent cardiac catheterization. Myocardial blood flow (MBF) at rest and under adenosine 5'-triphosphate (ATP) infusion was measured by 15 O-water PET, and the MFR was calculated. There were no significant differences in the hemodynamics of the 2 groups. The mean MFR in DHCM was significantly lower than that in DCM (1.49±0.31 vs 2.62±1.08; p=0.042), whereas MBF at rest did not differ (DCM vs DHCM: 0.66±0.20 vs 0.49±0.05 ml·min -1 ·g -1 ; no significance (NS)). The MFR in both Group A and B was significantly decreased compared with the normal controls (MFR in normal controls: 5.15±1.64, p=0.00015, 0.00013, respectively). These results suggest that impaired vasodilatation (ie, dysfunction of the microcirculation) is more severe in patients with DHCM than in patients with DCM, even though patients' characteristics and hemodynamics do not differ. (author)

  19. Regional left ventricular diastolic function in hypertrophic cardiomyopathy; Application of 'sector analysis' to ECG forward and reverse gated radionuclide ventriculography

    Energy Technology Data Exchange (ETDEWEB)

    Ishida, Yoshio; Matsubara, Noboru; Tani, Akihiro (Osaka Univ. (Japan). Faculty of Medicine) (and others)

    1989-06-01

    To estimate regional left ventricular (LV) diastolic filling patterns in hypertrophic cardiomyopathy (HCM), a computer-assisted method by applying 'sector analysis' to ECG forward and reverse gated radionuclide ventriculography was developed. Fourteen patients with HCM (four with localized septal hypertrophy, seven with apical hypertrophy and three with septal and apical hypertrophy according to echocardiography) were observed at rest. After establishing serial 20 msec imaged frames, the LV region of interest was subdivided into eight sectors radiating from the geometric center. A time-activity curve was generated for each sector and was fitted by third-order harmonics of the Fourier series. From each fitted curve, the regional peak filling rate (rPFR) and the time to rPFR (rTPFR) in the forward gating method and regional atrial contribution to filling (rAC/FV) in the reverse gating method were calculated. The coefficient of variance of rTPFR was used as an index of LV diastolic asynchrony. In HCM, a prominent delay of rTPFR was observed in the hypertrophied regions. The coefficient of variance of rTPFR correlated inversely with global LVPFR (r=-0.62, p<0.05), indicating that diastolic asynchrony is one of the determinants of the LV early filling rate. Regional AC/FV was augmented in the hypertrophied regions, indicating the important role of atrial systolic LV filling for slowed early filling. Thus, this new method provides valuable information concerning regional diastolic LV wall mechanics in HCM. (author).

  20. Computed tomography imaging to quantify the area of the endocardial subvalvular apparatus in hypertrophic cardiomyopathy - Relationship to outflow tract obstruction and symptoms.

    Science.gov (United States)

    Tajima, Miyu; Iguchi, Nobuo; Utanohara, Yuko; Hiroi, Yukio; Mahara, Keitaro; Niwa, Tatsunori; Takayama, Morimasa; Sumiyoshi, Tetsuya; Tomoike, Hitonobu

    2016-01-01

    Abnormalities of the endocardial subvalvular apparatus (SVA), which includes the papillary muscles directly attached to the mitral leaflet and left ventricular apical-basal muscle bundles, are occasionally identified in hypertrophic cardiomyopathy (HCM). Their associations with left ventricular outflow tract (LVOT) obstruction are unknown. We retrospectively reviewed cardiac computed tomography image data sets of 107 consecutive patients with HCM [56 obstructive (HOCM) and 51 non-obstructive (HNOCM)] as well as 53 controls. We evaluated anomalies of the SVA, measured the cross-sectional area of the SVA at the level of the LVOT, and subsequently assessed its correlation with the LVOT pressure gradient with and without medication. The area of the SVA was greater in HOCM than in HNOCM patients and in the control group (2.5 ± 1.3 cm(2), 1.4 ± 0.8 cm(2), and 0.9 ± 0.6 cm(2), respectively; p < 0.0001). Anomalies in the SVA were more often observed in the HOCM group than in the HNOCM patients and controls (abnormal papillary muscles, 14%, 8%, and 0%, respectively; P = 0.010; LV apical-basal muscle bundles, 73%, 65%, and 45%, respectively; P = 0.0094). Among HOCM patients, logistic regression analysis demonstrated that an SVA area of 2.2 cm(2) was an independent risk factor of residual severe LVOT obstruction (≥50 mmHg) after medication (odds ratio, 10.1; 95% confidence interval, 2.05-49.80). An increased area of the endocardial subvalvular apparatus could be an independent risk factor for clinically relevant LVOT obstruction refractory to medication. Copyright © 2016 Society of Cardiovascular Computed Tomography. Published by Elsevier Inc. All rights reserved.

  1. Early detection of myocardial dysfunction using two-dimensional speckle tracking echocardiography in a young cat with hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Ryohei Suzuki

    2018-02-01

    Full Text Available Case summary A 5-month-old intact female Scottish Fold cat was presented for cardiac evaluation. Careful auscultation detected a slight systolic murmur (Levine I/VI. The findings of electrocardiography, thoracic radiography, non-invasive blood pressure measurements and conventional echocardiographic studies were unremarkable. However, two-dimensional speckle tracking echocardiography revealed abnormalities in myocardial deformations, including decreased early-to-late diastolic strain rate ratios in longitudinal, radial and circumferential directions, and deteriorated segmental systolic longitudinal strain. At the follow-up examinations, the cat exhibited echocardiographic left ventricular hypertrophy and was diagnosed with hypertrophic cardiomyopathy using conventional echocardiography. Relevance and novel information This is the first report on the use of two-dimensional speckle tracking echocardiography for the early detection of myocardial dysfunction in a cat with hypertrophic cardiomyopathy; the myocardial dysfunction was detected before the development of hypertrophy. The findings from this case suggest that two-dimensional speckle tracking echocardiography can be useful for myocardial assessment when conventional echocardiographic and Doppler findings are ambiguous.

  2. Washout ratio of thallium-201 myocardial SPECT at rest in patients with hypertrophic cardiomyopathy or essential hypertension

    Energy Technology Data Exchange (ETDEWEB)

    Deguchi, Fumiko; Gotoh, Kohshi; Yagi, Yasuo (Gifu Univ. (Japan). Faculty of Medicine) (and others)

    1991-01-01

    Tl-201 myocardial SPECT at rest was performed in 32 patients with hypertrophic cardiomyopathy (HCM), 17 patients with essential hypertension (HTN), and 11 control subjects (C). Washout ratio was determined on both early and delayed SPECT images to compare myocardial thickness in the three groups. In addition, it was correlated with the rate of fibrosis. Early images showed no visual evidence of perfusion defects in either Group HTN or Group C, in contrast to 22% in Group HCM. Redistribution at rest showed 38% in Group HCM and 18% in Group HTN. Mean washout ratio was significantly lower in Group HCM (12.3+-10.3%) than Group HTN (17.9+-7.3%) and Group C (22.7+-7.4%). Washout ratio between the hypertrophic and non-hypertrophic sites did not differ in either Group HCM or Group HTN. Group HCM had a significantly higher rate of fibrosis than Group C (9.6+-8.8% vs. 3.3+-2.8%). It was also higher than Group HTN with no significant difference (9.6+-8.8% vs. 6.6+-4.9%). There was negative correlation between washout ratio at rest and the rate of fibrosis. (N.K.).

  3. ENerGetIcs in hypertrophic cardiomyopathy: traNslation between MRI, PET and cardiac myofilament function (ENGINE study).

    Science.gov (United States)

    Güçlü, A; Germans, T; Witjas-Paalberends, E R; Stienen, G J M; Brouwer, W P; Harms, H J; Marcus, J T; Vonk, A B A; Stooker, W; Yilmaz, A; Klein, P; Ten Berg, J M; Kluin, J; Asselbergs, F W; Lammertsma, A A; Knaapen, P; van Rossum, A C; van der Velden, J

    2013-12-01

    Hypertrophic cardiomyopathy (HCM) is an autosomal dominant heart disease mostly due to mutations in genes encoding sarcomeric proteins. HCM is characterised by asymmetric hypertrophy of the left ventricle (LV) in the absence of another cardiac or systemic disease. At present it lacks specific treatment to prevent or reverse cardiac dysfunction and hypertrophy in mutation carriers and HCM patients. Previous studies have indicated that sarcomere mutations increase energetic costs of cardiac contraction and cause myocardial dysfunction and hypertrophy. By using a translational approach, we aim to determine to what extent disturbances of myocardial energy metabolism underlie disease progression in HCM. Hypertrophic obstructive cardiomyopathy (HOCM) patients and aortic valve stenosis (AVS) patients will undergo a positron emission tomography (PET) with acetate and cardiovascular magnetic resonance imaging (CMR) with tissue tagging before and 4 months after myectomy surgery or aortic valve replacement + septal biopsy. Myectomy tissue or septal biopsy will be used to determine efficiency of sarcomere contraction in-vitro, and results will be compared with in-vivo cardiac performance. Healthy subjects and non-hypertrophic HCM mutation carriers will serve as a control group. Our study will reveal whether perturbations in cardiac energetics deteriorate during disease progression in HCM and whether these changes are attributed to cardiac remodelling or the presence of a sarcomere mutation per se. In-vitro studies in hypertrophied cardiac muscle from HOCM and AVS patients will establish whether sarcomere mutations increase ATP consumption of sarcomeres in human myocardium. Our follow-up imaging study in HOCM and AVS patients will reveal whether impaired cardiac energetics are restored by cardiac surgery.

  4. DDD Pacing Therapy Could Serve as a Dual Purpose Treatment in Hypertrophic Obstructive Cardiomyopathy —A Case Report Which Suggests the Importance of Lead Position and the Mechanism—

    Directory of Open Access Journals (Sweden)

    Shiro Nakahara, MD

    2007-01-01

    Full Text Available We treated a patient with hypertrophic obstructive cardiomyopathy (HOCM who underwent DDD pacing therapy. He suffered from attacks of paroxysmal atrial fibrillation (PAF complicated by sick sinus syndrome. Initially, we were unable to decrease the left ventricular outflow tract (LVOT gradient by pacing from the mid-distal portion of the right ventricular (RV septum. However, by changing the pacing site to the apical portion guided by right ventriculography, it was possible to decrease the LVOT gradient and at the same time reduce the mitral regurgitation. Tissue Doppler imaging (TDI revealed a marked motion delay of the ventricular septum during DDD pacing. The mechanism of the therapy for HOCM provided by the DDD pacing was clearly confirmed by TDI. Furthermore, a dramatic effect of preventing symptomatic PAF with the use of overdrive pacing in the region of Bachmann's bundle was also observed. This case report provides new insight into DDD pacing therapy for patients with HOCM.

  5. Pregnancy in women with hypertrophic cardiomyopathy : data from the European Society of Cardiology initiated Registry of Pregnancy and Cardiac disease (ROPAC)

    NARCIS (Netherlands)

    Goland, S.; van Hagen, I. M.; Elbaz-Greener, G.; Elkayam, U.; Shotan, A.; Merz, W. M.; Enar, S. C.; Gaisin, I. R.; Pieper, P. G.; Johnson, M. R.; Hall, R.; Blatt, A.; Roos-Hesselink, J. W.

    2017-01-01

    Aims We report the maternal and foetal outcomes at birth and after 6 months in a cohort of pregnant women with hypertrophic cardiomyopathy (HCM). Although most women with HCM tolerate pregnancy well, there is an increased risk of obstetric and cardiovascular complications. Methods and results All

  6. Genotype-phenotype correlation between the cardiac myosin binding protein C mutation A31P and hypertrophic cardiomyopathy in a cohort of Maine Coon cats

    DEFF Research Database (Denmark)

    Granström, Sara Magdalena Rebecca; Godiksen, M. T. N.; Christiansen, M.

    2015-01-01

    OBJECTIVES: A missense mutation (A31P) in the cardiac myosin binding protein C gene has been associated with hypertrophic cardiomyopathy (HCM) in Maine Coon cats. The aim of this study was to investigate the effect of A31P on development of HCM, myocardial diastolic dysfunction detected by color...

  7. ACUTE INTRAVENOUS VERSUS CHRONIC ORAL-DRUG EFFECTS OF VERAPAMIL ON LEFT-VENTRICULAR DIASTOLIC FUNCTION IN PATIENTS WITH HYPERTROPHIC CARDIOMYOPATHY

    NARCIS (Netherlands)

    POSMA, JL; BLANKSMA, PK; VANDERWALL, E; LIE, KI

    1994-01-01

    The effects of acute intravenous (i.v.) versus long-term oral(p.o.) verapamil administration on diastolic function were studied in 20 patients with hypertrophic cardiomyopathy (HCM). We used a tip manometer catheter to record left ventricular pressure (LVP) tracings and a nuclear probe to measure LV

  8. Transaortic Chordal Cutting: Mitral Valve Repair for Obstructive Hypertrophic Cardiomyopathy With Mild Septal Hypertrophy.

    Science.gov (United States)

    Ferrazzi, Paolo; Spirito, Paolo; Iacovoni, Attilio; Calabrese, Alice; Migliorati, Katrin; Simon, Caterina; Pentiricci, Samuele; Poggio, Daniele; Grillo, Massimiliano; Amigoni, Pietro; Iascone, Maria; Mortara, Andrea; Maron, Barry J; Senni, Michele; Bruzzi, Paolo

    2015-10-13

    In severely symptomatic patients with obstructive hypertrophic cardiomyopathy (HCM) and mild septal hypertrophy, mitral valve (MV) abnormalities may play an important role in MV displacement into the left ventricular (LV) outflow tract. Therefore, isolated myectomy may not relieve outflow obstruction and symptoms, and MV replacement is often the surgical alternative. This study sought to assess the clinical and hemodynamic results of cutting thickened secondary MV chordae combined with a shallow septal muscular resection in severely symptomatic patients with obstructive HCM and mild septal hypertrophy. Clinical features were compared before surgery and at most recent clinical evaluation in 39 consecutive patients with obstructive HCM. Over a 23 ± 2 months follow-up, New York Heart Association functional class decreased from 2.9 ± 0.5 pre-operatively to 1.1 ± 1.1 post-operatively (p < 0.001), with no patient in class III at most recent evaluation. The resting outflow gradient decreased from 82 ± 43 mm Hg to 9 ± 5 mm Hg (p < 0.001) and septal thickness decreased from 17 ± 1 mm to 14 ± 2 mm (p < 0.001). No patient had MV prolapse or flail and 1 had residual moderate-to-severe MV regurgitation at most recent evaluation. MV geometry before and after surgery was compared with that of 25 consecutive patients with similar clinical profile and septal thickness that underwent isolated myectomy. After adjustment for differences in pre-operative values between the groups, the post-operative anterior MV leaflet-annulus ratio was 17% greater and tenting area 24% smaller in patients with chordal cutting, indicating that MV apparatus had moved to a more normal posterior position within the LV cavity, preventing MV systolic displacement into the outflow tract and outflow obstruction. This procedure relieves heart failure symptoms, abolishes LV outflow gradient, and avoids MV replacement in patients with obstructive HCM and mild septal thickness. Copyright © 2015 American

  9. Cardiac magnetic field map topology quantified by Kullback-Leibler entropy identifies patients with hypertrophic cardiomyopathy

    Science.gov (United States)

    Schirdewan, A.; Gapelyuk, A.; Fischer, R.; Koch, L.; Schütt, H.; Zacharzowsky, U.; Dietz, R.; Thierfelder, L.; Wessel, N.

    2007-03-01

    Hypertrophic cardiomyopathy (HCM) is a common primary inherited cardiac muscle disorder, defined clinically by the presence of unexplained left ventricular hypertrophy. The detection of affected patients remains challenging. Genetic testing is limited because only in 50%-60% of all HCM diagnoses an underlying mutation can be found. Furthermore, the disease has a varied clinical course and outcome, with many patients having little or no discernible cardiovascular symptoms, whereas others develop profound exercise limitation and recurrent arrhythmias or sudden cardiac death. Therefore prospective screening of HCM family members is strongly recommended. According to the current guidelines this includes serial echocardiographic and electrocardiographic examinations. In this study we investigated the capability of cardiac magnetic field mapping (CMFM) to detect patients suffering from HCM. We introduce for the first time a combined diagnostic approach based on map topology quantification using Kullback-Leibler (KL) entropy and regional magnetic field strength parameters. The cardiac magnetic field was recorded over the anterior chest wall using a multichannel-LT-SQUID system. CMFM was calculated based on a regular 36 point grid. We analyzed CMFM in patients with confirmed diagnosis of HCM (HCM, n =33, 43.8±13 years, 13 women, 20 men), a control group of healthy subjects (NORMAL, n =57, 39.6±8.9 years; 22 women and 35 men), and patients with confirmed cardiac hypertrophy due to arterial hypertension (HYP, n =42, 49.7±7.9 years, 15 women and 27 men). A subgroup analysis was performed between HCM patients suffering from the obstructive (HOCM, n =19) and nonobstructive (HNCM, n =14) form of the disease. KL entropy based map topology quantification alone identified HCM patients with a sensitivity of 78.8% and specificity of 86.9% (overall classification rate 84.8%). The combination of the KL parameters with a regional field strength parameter improved the overall

  10. Myocardial perfusion abnormality and chest pain in patients with hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Narita, Michihiro; Kurihara, Tadashi; Murano, Kenichi; Usami, Masahisa (Sumitomo Hospital, Osaka (Japan))

    1991-02-01

    To investigate the role of myocardial ischemia in the development of chest pain in patients with hypertrophic cardiomyopathy (HCM), exercise stress (Ex) redistribution myocardial single photon emission CT's (SPECT's) with thallium-201 (Tl) were obtained in 27 patients with HCM. In all patients, coronary arteries were normal arteriographically. Patients were classified into NYHA Class I, II and III according to the frequency and severity of the chest pain during daily life. In these 3 groups, age, sex and intraventricular septal thickness measured by echocardiography were not different. Types of myocardial perfusion obtained by myocardial SPECT's were divided into 5: (1) normal perfusion, (2) no perfusion defect with abnormal myocardial Tl washout rate (WOR) during 3 hours (<30%) (Def(-)/WORabn), (3) reversible perfusion defect (RD), (4) fixed defect with abnormal WOR (FD/WORabn), and (5) fixed defect with normal WOR (FD/WORnl). In 14 patients of Class I, 9 patients (64%) showed normal perfusion but the rest showed perfusion abnormality (def(-)/WORabn in 3 and RD in 2). In Class II and III, all patients showed perfusion abnormalities of RD, FD/WORabn or FD/WORnl. As the functional class progressed from Class II to III, the ratio of fixed defect (both WORnl and WORabn) to RD increased, but it was not statistically significant. In 2 patients in whom Ex SPECT's were repeated because of the progression of the chest pain, the severity of the perfusion abnormality also progressed. Perfusion abnormalities were observed most frequently in anterior (35%), then inferior/posterior (20%) and septal wall (18%). The frequency of Ex induced ECG abnormalities (ST-depression or T wave changes) increased as the NYHA Class progressed (Class III vs I p<0.05). These findings suggested the following: chest pain in patients with HCM relates to the myocardial ischemia which may originate in the myocardial small arteries, and when the lesions progress myocardial necrosis

  11. Cardiac resynchronization therapy in patients with end-stage hypertrophic cardiomyopathy.

    Science.gov (United States)

    Killu, Ammar M; Park, Jae-Yoon; Sara, Jaskanwal D; Hodge, David O; Gersh, Bernard J; Nishimura, Rick A; Asirvatham, Samuel J; McLeod, Christopher J

    2018-01-01

    A dilated/end-stage phase of hypertrophic cardiomyopathy (HCM) is rare but well-recognized. The role for cardiac resynchronization therapy (CRT) in this subset of patients remains unexplored. We aimed to clarify the impact of bi-ventricular pacing CRT in dilated/end-stage HCM. The Mayo Clinic HCM database was interrogated to identify patients with ejection fraction (EF) average age at CRT-D implant was 44.8 ± 14.8 years, an average of 17.3 ± 10.3 years after HCM diagnosis. The indication for CRT was based on New York Heart Association class ≥II symptoms (mean 2.7 ± 0.4) and EF  0.05 for all). There was no difference in the combined end-point of left ventricular assist device (LVAD), cardiac transplant, or death between groups (P = 0.90). At last follow-up [mean duration 12.9 ± 8.3 (median 10.7) years], 8 (89%) in the CRT group were alive. Three and 2 patients underwent LVAD implantation and cardiac heart transplantation, respectively, 15.0 ± 10.1 years from HCM diagnosis and 2.6 ± 0.9 years from CRT implant. In the control group, 4 (44.4%) patients were alive at last follow-up [mean duration 12.0 ± 7.1 (median 12.7) years]. One patient each had LVAD and cardiac transplant. CRT in patients with dilated/end-stage HCM does not appear to confer a salutary effect on ventricular function. In medium-term follow-up, however, left ventricular function did not appear to deteriorate further, yet advanced heart failure therapy was common in this group. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2016. For Permissions, please email: journals.permissions@oup.com.

  12. Hypertrophic cardiomyopathy: Cardiac structural and microvascular abnormalities as evaluated with multi-parametric MRI

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Yu-Dong, E-mail: njmu_zyd@163.com [Department of Radiology, the First Affiliated Hospital with Nanjing Medical University (China); Li, Meijiao, E-mail: newgljyk@163.com [Department of Radiology, Peking University First Hospital (China); Qi, Liang, E-mail: qiliang1120@126.com [Department of Radiology, the First Affiliated Hospital with Nanjing Medical University (China); Wu, Chen-Jiang, E-mail: njmu_wcj@163.com [Department of Radiology, the First Affiliated Hospital with Nanjing Medical University (China); Wang, Xiaoying, E-mail: cjr.wangxiaoying@vip.163.com [Department of Radiology, Peking University First Hospital (China)

    2015-08-15

    Highlights: • LGE-present HCM had lower K{sup trans}, higher V{sub e} and MTT against LGE-absent HCM and normal group. • LGE-absent had significantly higher V{sub e} and MTT against normal group. • K{sup trans} was not changed between LGE-absent and normal group Microcirculatory dysfunction in HCM closely correlated to structural abnormality. - Abstract: Purpose: To determine the relationship between myocardial structural and microvascular abnormality in hypertrophic cardiomyopathy (HCM) by multi-parametric cardiac MRI. Materials and methods: Twenty-four HCM and eighteen controls were retrospectively included. Left ventricle mass (LVM), LV end-systolic and end-diastolic volume (LVESV, LVEDV), LV ejection fraction (LVEF), and 16-segment wall thickness at ES and ED (SESWT, SEDWT) were assessed with a 2D cine-MRI. Myocardial perfusion (reflected by K{sup trans}), interstitial volume (V{sub e}) and mean transmit time (MTT) were evaluated with a model-dependent dynamic contrast-enhanced MRI. Myocardial fibrosis was assessed with late gadolinium enhancement (LGE) imaging. Results: K{sup trans} was significantly decreased in LGE-present (0.74 ± 0.15 mL/g/min) against LGE-absent (0.55 ± 0.14 mL/g/min, p = 0.030) and normal group (0.81 ± 0.32 mL/g/min, p < 0.001), but was unchanged in LGE-absent against normal group (p > 0.05). V{sub e} and MTT were significantly increased in LGE-present (V{sub e}: 26.7 ± 15.7%; MTT: 28.6 ± 21.3 s) against LGE-absent (37.6 ± 18.3%; 49.8 ± 30.5 s) and normal group (19.7 ± 6.9%; 15.1 ± 3.9 s; all p < 0.001), and were significantly increased in LGE-absent against normal group (p < 0.001). LGE significantly correlated to K{sup trans}, V{sub e}, MTT, and SESWT (ρ = 0.232, −0.247, −0.443, and −0.207, respectively). K{sup trans} negatively correlated to SEDWT and SESWT (ρ = −0.224 and −0.231). V{sub e} and MTT positively correlated to SEDWT (V{sub e}: ρ = 0.223; MTT: ρ = 0.239) and SESWT (V{sub e}: ρ = 0.248; MTT:

  13. Significant regional heterogeneity of coronary flow reserve in paediatric hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Tadamura, E.; Kudoh, T.; Kubo, S.; Konishi, J. [Kyoto Univ. (Japan). School of Medicine; Yoshibayashi, M.; Yonemura, T. [Dept. of Pediatrics, Kyoto Univ. Graduate School of Medicine, Kyoto (Japan); Motooka, M.; Nohara, R.; Matsumori, A.; Sasayama, S. [Third Div., Dept. of Internal Medicine, Kyoto Univ. Graduate School of Medicine, Kyoto (Japan); Matsuda, T. [Dept. of Medical Informatics, Kyoto Univ. Graduate School of Medicine, Kyoto (Japan); Tamaki, N. [Dept. of Nuclear Medicine, Hokkaido Univ. School of Medicine, Sapporo (Japan)

    2000-09-01

    Previous studies have indicated that cardiac events in young patients with hypertrophic cardiomyopathy (HCM) are related to ischaemia rather than to arrhythmia. We measured coronary flow reserve in paediatric HCM and compared the values with those in adult HCM. We studied 12 patients with HCM including six paediatric (<20 years old; mean 13 years) and six adult patients (>20 years old: mean 62 years), and six healthy young adults (mean 29 years) as controls. Every patient underwent magnetic resonance imaging (MRI) for anatomical assessment. Myocardial blood flow at rest and after dipyridamole infusion was measured with dynamic nitrogen-13 ammonia positron emission tomography (PET). Partial volume effect was corrected for using the anatomical data obtained with MRI. In adult patients with HCM, coronary flow reserve in the hypertrophied septal region was not significantly different from that in the non-hypertrophied lateral wall (1.38{+-}0.29 vs 1.77{+-}0.39, respectively). In the paediatric patients, coronary flow reserve in the hypertrophied septal region was significantly lower than in the non-hypertrophied lateral wall (0.84{+-}0.33 vs 2.74{+-}0.90, respectively, P<0.01). In addition, coronary flow reserve in adult patients was lower than in control subjects both in the septal wall (1.38{+-}0.29 vs 2.94{+-}0.35, respectively, P<0.0001) and in the lateral wall (1.77{+-}0.39 vs 2.85{+-}0.69, respectively, P<0.05). In contrast, coronary flow reserve in paediatric patients was not significantly different from that in control subjects in the lateral wall (2.74{+-}0.90 vs 2.85{+-}0.69, respectively), while absolute reduction of myocardial blood flow was noted after pharmacological vasodilatation in the hypertrophied septal region. In conclusion, significant regional differences of coronary flow reserve were present in the paediatric patients with HCM. These results suggest that paediatric patients with HCM intrinsically have the potential to experience significant

  14. Is myocardial fatty acid metabolism different between hypertrophic cardiomyopathy and hypertensive hypertrophy?

    International Nuclear Information System (INIS)

    Narita, Michihiro; Kurihara, Tadashi; Usami, Masahisa; Honda, Minoru

    1994-01-01

    To investigate characteristics of fatty acid metabolism in hypertrophic cardiomyopathy (HCM), we performed myocardial imaging with 123 I-iodophenyl-3-methylpentadecanoic acid (BMIPP) in 24 HCM patients, 13 patients with hypertensive hypertrophy (HT) and 10 normal subjects. Rest myocardial imaging with 123 I-BMIPP was obtained at 20 minutes and 3 hours after 123 I-BMIPP injection. Rest 201 Tl imaging was also performed. In addition to ordinary tomography, whole body imaging was performed to calculate %Uptake (percentage of cardiac uptake of the isotope to total injected dose). As global indexes of fatty acid metabolism, we calculated two parameters; Uptake Ratio (%Uptake of 123 I-BMIPP normalized by myocardial perfusion) and WOR (percent reduction of myocardial 123 I-BMIPP within 3 hours). Regional abnormality was evaluated by visual assessment of ordinary tomograms and by BMIPP/Tl map. BMIPP/Tl map was made from Bull's-eye maps of 123 I-BMIPP and 201 Tl, and it represented 123 I-BMIPP uptake normalized by myocardial perfusion of each pixel which constructed the image. %Uptake of 123 I-BMIPP was not different among three groups. Uptake Ratio was significantly (p HT (1.03±0.08)>HCM (0.87±0.09). WOR of 123 I-BMIPP was accerelated in HCM (12.7±4.7%) and HT (10.2±2.9%) compared with normal (5.1±3.1%) (p 123 I-BMIPP distribution was found in 17 of 24 patients (71%) including 3 patients with equivocal abnormality. In HT patients, only equivocal abnormality was observed in 23%. In BMIPP/Tl map, abnormality was observed in 92% of HCM and 8% of HT. Although global myocardial fatty acid metabolism was equally disturbed both in HCM and HT, regional abnormality of fatty acid metabolism was observed preferetially in HCM. This indicated myocardial fatty acid metabolism was not identical between HCM and HT. (author)

  15. Heart rate variability analysis based on time–frequency representation and entropies in hypertrophic cardiomyopathy patients

    International Nuclear Information System (INIS)

    Clariá, F; Vallverdú, M; Caminal, P; Baranowski, R; Chojnowska, L

    2008-01-01

    In hypertrophic cardiomyopathy (HCM) patients there is an increased risk of premature death, which can occur with little or no warning. Furthermore, classification for sudden cardiac death on patients with HCM is very difficult. The aim of our study was to improve the prognostic value of heart rate variability (HRV) in HCM patients, giving insight into changes of the autonomic nervous system. In this way, the suitability of linear and nonlinear measures was studied to assess the HRV. These measures were based on time–frequency representation (TFR) and on Shannon and Rényi entropies, and compared with traditional HRV measures. Holter recordings of 64 patients with HCM and 55 healthy subjects were analyzed. The HCM patients consisted of two groups: 13 high risk patients, after aborted sudden cardiac death (SCD); 51 low risk patients, without SCD. Five-hour RR signals, corresponding to the sleep period of the subjects, were considered for the analysis as a comparable standard situation. These RR signals were filtered in the three frequency bands: very low frequency band (VLF, 0–0.04 Hz), low frequency band (LF, 0.04–0.15 Hz) and high frequency band (HF, 0.15–0.45 Hz). TFR variables based on instantaneous frequency and energy functions were able to classify HCM patients and healthy subjects (control group). Results revealed that measures obtained from TFR analysis of the HRV better classified the groups of subjects than traditional HRV parameters. However, results showed that nonlinear measures improved group classification. It was observed that entropies calculated in the HF band showed the highest statistically significant levels comparing the HCM group and the control group, p-value < 0.0005. The values of entropy measures calculated in the HCM group presented lower values, indicating a decreasing of complexity, than those calculated from the control group. Moreover, similar behavior was observed comparing high and low risk of premature death, the values of

  16. Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro.

    Science.gov (United States)

    Debold, Edward P; Saber, Walid; Cheema, Yaser; Bookwalter, Carol S; Trybus, Kathleen M; Warshaw, David M; Vanburen, Peter

    2010-02-01

    Two cardiomyopathic mutations were expressed in human cardiac actin, using a Baculovirus/insect cell system; E99K is associated with hypertrophic cardiomyopathy whereas R312H is associated with dilated cardiomyopathy. The hypothesis that the divergent phenotypes of these two cardiomyopathies are associated with fundamental differences in the molecular mechanics and thin filament regulation of the underlying actin mutation was tested using the in vitro motility and laser trap assays. In the presence of troponin (Tn) and tropomyosin (Tm), beta-cardiac myosin moved both E99K and R312H thin filaments at significantly (pATP concentration revealed similar ATP binding rates but slowed ADP release rates for the two actin mutants compared to WT. Single molecule laser trap experiments performed using both unregulated (i.e. actin) and regulated thin filaments in the absence of Ca(++) revealed that neither actin mutation significantly affected the myosin's unitary step size (d) or duration of strong actin binding (t(on)) at 20 microM ATP. However, the frequency of individual strong-binding events in the presence of Tn and Tm, was significantly lower for E99K than WT at comparable myosin surface concentrations. The cooperativity of a second myosin head binding to the thin filament was also impaired by E99K. In conclusion, E99K inhibits the activation of the thin filament by myosin strong-binding whereas R312H demonstrates enhanced calcium activation. Copyright 2009 Elsevier Ltd. All rights reserved.

  17. Coronary vasodilation is impaired in both hypertrophied and nonhypertrophied myocardium of patients with hypertrophic cardiomyopathy: A study with nitrogen-13 ammonia and positron emission tomography

    Energy Technology Data Exchange (ETDEWEB)

    Camici, P.; Chiriatti, G.; Lorenzoni, R.; Bellina, R.C.; Gistri, R.; Italiani, G.; Parodi, O.; Salvadori, P.A.; Nista, N.; Papi, L. (C.N.R. Institute of Clinical Physiology, Pisa (Italy))

    1991-03-15

    To assess regional coronary reserve in hypertrophic cardiomyopathy, regional myocardial blood flow was measured in 23 patients with hypertrophic cardiomyopathy and 12 control subjects by means of nitrogen-13 ammonia and dynamic positron emission tomography. In patients with hypertrophic cardiomyopathy at baseline study, regional myocardial blood flow was 1.14 +/- 0.43 ml/min per g in the hypertrophied (20 +/- 3 mm) interventricular septum and 0.90 +/- 0.35 ml/min per g (p less than 0.05 versus septal flow) in the nonhypertrophied (10 +/- 2 mm) left ventricular free wall. These were not statistically different from the corresponding values in control subjects (1.04 +/- 0.25 and 0.91 +/- 0.21 ml/min per g, respectively, p = NS). After pharmacologically induced coronary vasodilation (dipyridamole, 0.56 mg/kg intravenously over 4 min), regional myocardial blood flow in patients with hypertrophic cardiomyopathy increased significantly less than in control subjects both in the septum (1.63 +/- 0.58 versus 2.99 +/- 1.06 ml/min per g, p less than 0.001) and in the free wall (1.47 +/- 0.58 versus 2.44 +/- 0.82 ml/min per g, p less than 0.001). In addition, patients with hypertrophic cardiomyopathy who had a history of chest pain had more pronounced impairment of coronary vasodilator reserve than did those without a history of chest pain. After dipyridamole, coronary resistance in the septum decreased by 38% in patients without a history of chest pain, but decreased by only 14% in those with such a history (p less than 0.05). Coronary resistance in the free wall decreased by 45% in patients without and by 27% in those with a history of chest pain (p = 0.06).

  18. [Clinical and gene mutation analysis of three children with late-onset glycogen storage disease type Ⅱ with hypertrophic cardiomyopathy].

    Science.gov (United States)

    Luo, J H; Qiu, W J; Fang, D; Ye, J; Han, L S; Zhang, H W; Yu, Y G; Liang, L L; Gu, X F

    2017-06-02

    Objective: To investigate the clinical and laboratory features of three children with late-onset type Ⅱ glycogen storage disease(GSD) who presented with hypertrophic cardiomyopathy and to analyze the effect of five mutations identified on the acid-α-glucosidase (GAA) activity and stability. Method: Three cases of children with muscle weakness were included in this study.GAA activity was analyzed in Dried Blood Spot of the patients.DNA was extracted from peripheral blood in all the patients and their parents and subjected to polymerase chain reaction and directly sequencing of GAA gene.Five mutant pcDNA3.1-myc-his-GAA expression plasmids(p.G478R, p.P361L, p.P266S, p.Q323X, p.R672Q) were constructed and transient instantaneously transfected into 293T cells to analyze the enzyme activity and stability of GAA. Result: All the three children had the onset of disease at 3 years or 1.5 years of age.They presented with developmental delay, muscle weakness and hypertrophic cardiomyopathy.GAA activity of 3 patients was 2.65, 3.55 and 1.51 pmol(punch·h)(8.00-98.02)respectively. Genetic analysis found 5 mutations (p.G478R, p. P361L, p. P266S, p. Q323X, p. R672Q), and all of these 3 cases had clinical manifestations and were diagnosed as late-onset type Ⅱ glycogen storage disease.Five mutant pcDNA3.1-myc-his-GAA expression plasmids were transfected into 293T cells.Five mutant enzyme activities were found to be only 9.9%-22.5% of the wild-type enzyme activity and the protein expression of the five mutants was 32.0%-63.9% compared with the wild type. Conclusion: This study reports 3 children with late-onset GSD Ⅱ accompanied by hypertrophic cardiomyopathy and compensatory stage of cardiac function in addition to limb muscle weakness.Five pathogenic mutations were identified, and these 5 mutations result in decreased GAA activity and GAA expression by in vitro functional analysis.

  19. Efficacy and safety of alcohol septal ablation in patients over 65 years old with obstructive hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Cheddadi L

    2017-03-01

    Full Text Available Laila Cheddadi,1 Olivier Lairez,1–4 Thibault Lhermusier,1,5 Francisco Campelo-Parada,1 Michel Galinier,1,3,4 Didier Carrié,1,3,5 Nicolas Boudou1 1Department of Cardiology, University Hospital of Rangueil, 2Department of Nuclear Medicine, 3Cardiac Imaging Center, Toulouse University Hospital, 4Medical School of Rangueil, 5Medical School of Purpan, University Paul Sabatier, Toulouse, France Background: The performance of alcohol septal ablation (ASA in elderly symptomatic patients with drug-refractory obstructive hypertrophic cardiomyopathy is still to be confirmed. The objective of this study was to compare the efficacy and safety of ASA in patients under and over 65 years old.Methods and results: Fifty-one consecutive patients with obstructive hypertrophic cardiomyopathy who underwent ASA were retrospectively included and reviewed for in-hospital major acute cardiac events and follow-up. Twenty-eight patients were over 65 years old. Left ventricular outflow tract obstruction at rest, use of diuretic and average dose of diuretic were higher in patients over 65 years old. There was no difference in hospital stay between patients under and over 65 years old. Among patients over 65 years old, 2 (7% died before being discharged. Major acute cardiac events were more frequent in patients over 65 years old in comparison with younger patients (43% versus 9%, respectively, P=0.007. The average follow-up duration was 16±15 months. There was no difference between patients under and over 65 years old regarding the efficacy of the procedure with a decrease of the New York Heart Association class of 1.3±0.6 and 1.4±0.7 (P=0.510 and the maximum left ventricular outflow tract gradient of 86±57 and 81±36 mmHg (P=0.733, respectively.Conclusion: Elderly patients have the same benefits as younger patients after ASA but have more complications including mortality events. Keywords: alcohol septal ablation, hypertrophic cardiomyopathy, elderly

  20. Novel Approach Targeting the Complex Pathophysiology of Hypertrophic Cardiomyopathy: The Impact of Late Sodium Current Inhibition on Exercise Capacity in Subjects with Symptomatic Hypertrophic Cardiomyopathy (LIBERTY-HCM) Trial.

    Science.gov (United States)

    Olivotto, Iacopo; Hellawell, Jennifer L; Farzaneh-Far, Ramin; Blair, Christiana; Coppini, Raffaele; Myers, Jonathan; Belardinelli, Luiz; Maron, Martin S

    2016-03-01

    Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disorder, with an overall prevalence of at least 1:500 in the adult population although only a fraction of affected patients come to clinical recognition. It is also the most common cause of sudden cardiac death in young adults and a major cause of morbidity caused by chronic heart failure symptoms. However, more than half a century since the original description of the disease, there is no currently approved therapy for the treatment of patients with HCM, and to date there have been only 5 randomized studies of medical therapies in HCM. As such, unmet medical need in HCM has been highlighted by the National Heart, Lung, and Blood Institute (NHLBI) as a research priority. Encouragingly, the infrastructure needed to conduct rigorous clinical trials in HCM has recently emerged because of the heightened awareness and understanding of the disease, development of clinical centers of excellence, and advances in diagnostic imaging. In this article, we will discuss the complex pathophysiology of HCM, review the current therapeutic landscape, describe new mechanistic insights into the central role of the late sodium current in HCM, and introduce the scientific rationale and execution of the Impact of Late Sodium Current Inhibition on Exercise Capacity in Subjects with Symptomatic Hypertrophic Cardiomyopathy (LIBERTY-HCM) trial, the largest randomized, double-blind, placebo controlled clinical trial, now underway, designed to evaluate the effect of a novel pharmacological approach in patients with symptomatic HCM. URL: http://www.clinicaltrials.gov. Unique identifier: NCT02291237. © 2016 American Heart Association, Inc.

  1. Treatment of obstructive hypertrophic cardiomyopathy symptoms and gradient resistant to first-line therapy with β-blockade or verapamil.

    Science.gov (United States)

    Sherrid, Mark V; Shetty, Aneesha; Winson, Glenda; Kim, Bette; Musat, Dan; Alviar, Carlos L; Homel, Peter; Balaram, Sandhya K; Swistel, Daniel G

    2013-07-01

    There is controversy about preferred methods to relieve obstruction in hypertrophic cardiomyopathy patients still symptomatic after β-blockade or verapamil. Of 737 patients prospectively registered at our institution, 299 (41%) required further therapy for obstruction for limiting symptoms, rest gradient 61 ± 45, provoked gradient 115 ± 49 mm Hg, and followed up for 4.8 years. Disopyramide was added in 221 (74%) patients and pharmacological control of symptoms was achieved in 141 (64%) patients. Overall, 138 (46%) patients had surgical relief of obstruction (91% myectomy) and 6 (2%) alcohol septal ablation. At follow-up, resting gradients in the 299 patients had decreased from 61 ± 44 to 10 ± 25 mm Hg (Psymptoms resistant to initial pharmacological therapy with β-blockade or verapamil may realize meaningful symptom relief and low mortality through stepped management, adding disopyramide in appropriately selected patients, and when needed, by surgical myectomy.

  2. Effect of amiodarone-induced hyperthyroidism on left ventricular outflow obstruction after septal myectomy for hypertrophic cardiomyopathy.

    Science.gov (United States)

    Pokorney, Sean D; Stone, Neil J; Passman, Rod; Oyer, David; Rigolin, Vera H; Bonow, Robert O

    2010-12-01

    Patients with obstructive hypertrophic cardiomyopathy who undergo septal myectomy are at risk for developing postoperative atrial fibrillation. Amiodarone is effective in treating this arrhythmia but is associated with multiple adverse effects, often with delayed onset. A novel case is described of a patient who developed type 2 amiodarone-induced hyperthyroidism that presented as recurrence of outflow obstruction after septal myectomy. The patient's symptoms and echocardiographic findings of outflow obstruction resolved substantially with the treatment of the amiodarone-induced hyperthyroidism. Amiodarone-induced hyperthyroidism of delayed onset can be a subtle diagnosis, requiring a high index of suspicion. In conclusion, recognition of this diagnosis in patients with recurrence of outflow obstruction by symptoms and cardiac imaging after septal myectomy may avoid unnecessary repeat surgical intervention. Copyright © 2010 Elsevier Inc. All rights reserved.

  3. Prediction of Fetal Hypertrophic Cardiomyopathy in Diabetic Pregnancies Compared with Postnatal Outcome

    Directory of Open Access Journals (Sweden)

    Sherif F. Elmekkawi

    2015-01-01

    Full Text Available Objective The aim of this study was to estimate the accuracy of prenatal assessment of interventricular septum (IVS thickness, right myocardial wall thickness (RMWT, and left myocardial wall thickness (LMWT by two-dimensional (2D ultrasound for the prediction of perinatal mortality and postnatal diagnosis of hypertrophic cardiomyopathy (HCM among diabetic pregnant women. Subjects and Methods A total of 120 diabetic pregnant women at 35 weeks or more were enrolled in this study from January 1, 2012, to June 30, 2014, at Ain Shams Maternity Hospital, Cairo, Egypt. The 2D ultrasound was done once for all the participants at the time of recruitment; IVS thickness, RMWT, and LMWT were measured. The glycosylated hemoglobin (HbA1c levels of the participants were recorded. Neonatal assessment including postnatal echocardiography was done after 48 hours. Postnatal results were compared with the prenatal predictive results. Results Higher thickness values for IVS, RMW, and LMW were obtained in the uncontrolled diabetic cases (HbA1c > 6.5% than in the controlled diabetic cases (HbA1c < 6.5%; P < 0.01. Of the included 120 neonates, 10 (8.3% were stillborn, 99 (82.5% had a five-minute Apgar score ≥7, and 4(3.3% had a five-minute Apgar score ≤3. The four neonates with severe neonatal distress died after admission to neonatal intensive care unit within one week after delivery. Out of 110 live-born neonates, 4 (3.6% neonates had a low ejection fraction (EF (<50% due to HCM; of them 2 (1.8% died within one week after delivery, while 2 (1.8% survived. Another two (1.8% neonates died from severe respiratory distress syndrome. A cutoff value of ≥4.5 mm for prenatal IVS thickness was predictive of neonatal distress due to HCM with a sensitivity of 82%, specificity of 68%, and diagnostic accuracy of 72%. A cutoff value of <1.18 for the ratio of IVS thickness to LMWT had a sensitivity of 82%, specificity of 72%, and diagnostic accuracy of 74% for the prediction

  4. Myosin-binding Protein C Compound Heterozygous Variant Effect on the Phenotypic Expression of Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Rafael, Julianny Freitas; Cruz, Fernando Eugênio Dos Santos; Carvalho, Antônio Carlos Campos de; Gottlieb, Ilan; Cazelli, José Guilherme; Siciliano, Ana Paula; Dias, Glauber Monteiro

    2017-04-01

    Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disease caused by mutations in genes encoding sarcomere proteins. It is the major cause of sudden cardiac death in young high-level athletes. Studies have demonstrated a poorer prognosis when associated with specific mutations. The association between HCM genotype and phenotype has been the subject of several studies since the discovery of the genetic nature of the disease. This study shows the effect of a MYBPC3 compound variant on the phenotypic HCM expression. A family in which a young man had a clinical diagnosis of HCM underwent clinical and genetic investigations. The coding regions of the MYH7, MYBPC3 and TNNT2 genes were sequenced and analyzed. The proband present a malignant manifestation of the disease, and is the only one to express HCM in his family. The genetic analysis through direct sequencing of the three main genes related to this disease identified a compound heterozygous variant (p.E542Q and p.D610H) in MYBPC3. A family analysis indicated that the p.E542Q and p.D610H alleles have paternal and maternal origin, respectively. No family member carrier of one of the variant alleles manifested clinical signs of HCM. We suggest that the MYBPC3-biallelic heterozygous expression of p.E542Q and p.D610H may cause the severe disease phenotype seen in the proband. Resumo A cardiomiopatia hipertrófica (CMH) é uma doença autossômica dominante causada por mutações em genes que codificam as proteínas dos sarcômeros. É a principal causa de morte súbita cardíaca em atletas jovens de alto nível. Estudos têm demonstrado um pior prognóstico associado a mutações específicas. A associação entre genótipo e fenótipo em CMH tem sido objeto de diversos estudos desde a descoberta da origem genética dessa doença. Este trabalho apresenta o efeito de uma mutação composta em MYBPC3 na expressão fenotípica da CMH. Uma família na qual um jovem tem o diagnóstico clínico de CMH foi

  5. Mitochondrial Dysfunctions Contribute to Hypertrophic Cardiomyopathy in Patient iPSC-Derived Cardiomyocytes with MT-RNR2 Mutation

    Directory of Open Access Journals (Sweden)

    Shishi Li

    2018-03-01

    Full Text Available Summary: Hypertrophic cardiomyopathy (HCM is the most common cause of sudden cardiac death in young individuals. A potential role of mtDNA mutations in HCM is known. However, the underlying molecular mechanisms linking mtDNA mutations to HCM remain poorly understood due to lack of cell and animal models. Here, we generated induced pluripotent stem cell-derived cardiomyocytes (HCM-iPSC-CMs from human patients in a maternally inherited HCM family who carry the m.2336T>C mutation in the mitochondrial 16S rRNA gene (MT-RNR2. The results showed that the m.2336T>C mutation resulted in mitochondrial dysfunctions and ultrastructure defects by decreasing the stability of 16S rRNA, which led to reduced levels of mitochondrial proteins. The ATP/ADP ratio and mitochondrial membrane potential were also reduced, thereby elevating the intracellular Ca2+ concentration, which was associated with numerous HCM-specific electrophysiological abnormalities. Our findings therefore provide an innovative insight into the pathogenesis of maternally inherited HCM. : In this article, Yan Q, Liu Z, Huang W, and colleagues show that patient-specific iPSCs as well as their derived cardiomyocytes carrying the m.2336T>C mutation in MT-RNR2 were generated to understand the pathogenic mechanism of maternally inherited HCM. MT-RNR2 mutation resulted in mitochondrial dysfunctions and ultrastructure defects, which induced abnormal Ca2+ homeostasis, then HCM-specific cellular and electrophysiological characteristics in iPSC-CMs. Keywords: mitochondrion, hypertrophic cardiomyopathy, induced pluripotent stem cells, MT-RNR2, maternal inheritance

  6. Quality of life in asymptomatic children and adolescents before and after diagnosis of hypertrophic cardiomyopathy through family screening.

    Science.gov (United States)

    Bratt, Ewa-Lena; Ostman-Smith, Ingegerd; Axelsson, Asa; Berntsson, Leeni

    2013-01-01

    The aim of this study was to measure quality of life (QoL) in asymptomatic children with hypertrophic cardiomyopathy (HCM) before and after diagnosis. Hypertrophic cardiomyopathy is a disease with a 50% risk of inheritance. Children at risk for serious complications can be diagnosed early with family screening, but before embarking on a screening programme, it is important to evaluate the psychosocial consequences of such screening. Prospective case-control study. Quality of life was measured using a questionnaire by Lindström incorporating both objective and subjective aspects of the three spheres: external, interpersonal and personal, before and two years after diagnosis. The study group consisted of 13 children/adolescents (11 boys), median age 11 (5-18) years, with HCM diagnosed at family screening. All filled out a questionnaire before diagnosis and at follow-up. 41 healthy children/adolescents (22 boys), median age 11 (2-19) years with a first-degree relative diagnosed with HCM served as controls; 15/41 also completed follow-up data. The total QoL score for all spheres was similar in both groups at baseline and follow-up. In the interpersonal sphere, it was more common that children diagnosed with HCM had no siblings both at baseline (p = 0·002) and follow-up (p = 0·005). The family situation, social support and life events were unchanged from baseline to follow-up. Children with HCM had significantly more psychosomatic symptoms compared with controls at baseline (p Self-esteem, peer acceptance and satisfaction with school were unchanged and similar between groups. Family screening for HCM does not appear to negatively influence QoL. This study indicates that family screening of asymptomatic children and adolescents had no significant detrimental effects on QoL. This suggests that the benefits of finding symptomatic individuals at risk for serious complications outweigh concerns about screening asymptomatic individuals. © 2012 Blackwell Publishing Ltd.

  7. T1 Mapping in Discrimination of Hypertrophic Phenotypes: Hypertensive Heart Disease and Hypertrophic Cardiomyopathy: Findings From the International T1 Multicenter Cardiovascular Magnetic Resonance Study.

    Science.gov (United States)

    Hinojar, Rocio; Varma, Niharika; Child, Nick; Goodman, Benjamin; Jabbour, Andrew; Yu, Chung-Yao; Gebker, Rolf; Doltra, Adelina; Kelle, Sebastian; Khan, Sitara; Rogers, Toby; Arroyo Ucar, Eduardo; Cummins, Ciara; Carr-White, Gerald; Nagel, Eike; Puntmann, Valentina O

    2015-12-01

    The differential diagnosis of left ventricular (LV) hypertrophy remains challenging in clinical practice, in particular, between hypertrophic cardiomyopathy (HCM) and increased LV wall thickness because of systemic hypertension. Diffuse myocardial disease is a characteristic feature in HCM, and an early manifestation of sarcomere-gene mutations in subexpressed family members (G+P- subjects). This study aimed to investigate whether detecting diffuse myocardial disease by T1 mapping can discriminate between HCM versus hypertensive heart disease as well as to detect genetically driven interstitial changes in the G+P- subjects. Patients with diagnoses of HCM or hypertension (HCM, n=95; hypertension, n=69) and G+P- subjects (n=23) underwent a clinical cardiovascular magnetic resonance protocol (3 tesla) for cardiac volumes, function, and scar imaging. T1 mapping was performed before and >20 minutes after administration of 0.2 mmol/kg of gadobutrol. Native T1 and extracellular volume fraction were significantly higher in HCM compared with patients with hypertension (P15 mm (P2 SD above the mean of the normal range. Native T1 was an independent discriminator between HCM and hypertension, over and above extracellular volume fraction, LV wall thickness and indexed LV mass. Native T1 was also useful in separating G+P- subjects from controls. Native T1 may be applied to discriminate between HCM and hypertensive heart disease and detect early changes in G+P- subjects. © 2015 American Heart Association, Inc.

  8. Myocardial tissue characterization in hypertrophic cardiomyopathy. Comparison between Gd-DTPA enhanced MR signal intensity ratio and myocardial biopsy

    Energy Technology Data Exchange (ETDEWEB)

    Tsukihashi, Hironori; Shimada, Toshio; Ishibashi, Yutaka [Shimane Medical Univ., Izumo (Japan)] [and others

    1995-09-01

    The aim of this study is to demonstrate whether Gd-DTPA enhanced magnetic resonance imaging (Gd-EMRI) can be used to evaluate myocardial tissue characterization. We performed Gd-EMRI in 20 patients with hypertrophic cardiomyopathy (HCM) and 6 normal controls. Ventricular myocardial biopsy was performed in 7 patients. Gd-EMRI was obtained every 10 minutes from 5 to 50 minutes after intravenous Gd-DTPA (0.1 mmol/kg) injection. Signal intensity (SI) in hypertrophic region of myocardium was measured from LV short axis image. We standardized the data according to following equations. IR (intensity ratio) =SI (myocardium) /SI (skeletal muscle). SIR=IR (in time course) /IR (before Gd-DTPA injection). SIR in HCM was delayed in time course compared with that in normal controls. Interstitial fibrosis was prominent when SIR (peak) minus SIR (40min. after) /SIR (peak) was small. The delayed decay of IR in HCM was closely related to the grade of interstitial fibrosis rather than the edema of interstitial tissue or the myocardial cell diameter. We conclude that the decay analysis with Gd-EMRI is useful to evaluate myocardial tissue characterization closely related to myocardial fibrosis in comparison with cardiac histology. (author).

  9. Systolic and diastolic myocardial mechanics in hypertrophic cardiomyopathy and their link to the extent of hypertrophy, replacement fibrosis and interstitial fibrosis.

    Science.gov (United States)

    Nucifora, Gaetano; Muser, Daniele; Gianfagna, Pasquale; Morocutti, Giorgio; Proclemer, Alessandro

    2015-12-01

    Aim of the present study was to investigate the relations between myocardial mechanics and the extent of hypertrophy and fibrosis in hypertrophic cardiomyopathy (HCM). Forty-five consecutive patients with HCM and 15 subjects without structural heart disease were included. Cardiac magnetic resonance with late gadolinium enhancement (LGE) imaging was performed to evaluate biventricular function, LV mass index and presence/extent of LGE, expression of replacement fibrosis. Myocardial T1 relaxation, a surrogate of interstitial fibrosis, was measured from Look-Locker sequence. Feature-tracking analysis was applied to LV basal, mid and apical short-axis images to assess systolic and diastolic global LV circumferential strain (CS) and strain rate (CSr). Peak systolic CS and CSr were significantly higher among HCM patients as compared to control subjects (p = 0.015 and p = 0.007, respectively). The ratio of peak CSr during early filling to peak systolic CSr was significantly lower among HCM patients (p = 0.002). At multivariate linear regression analysis, LV mass index (p < 0.001) and %LV LGE (p = 0.011) were significantly and independently related to peak systolic CS; LV mass index (p < 0.001) and %LV LGE (p = 0.023) were significantly and independently related to peak systolic CSr; %LV LGE (p = 0.021) and T1 ratio (p = 0.006) were significantly and independently related to the ratio of peak CSr during early filling to peak systolic CSr. LV systolic mechanics are enhanced and LV diastolic mechanics are impaired in HCM. Extent of hypertrophy and replacement fibrosis influence the LV systolic mechanics while extent of replacement fibrosis and interstitial fibrosis influence the LV diastolic mechanics.

  10. Atrial fibrillation is poorly tolerated by patients with hypertrophic concentric cardiomyopathy caused by mitochondrial tRNALeu (UUR mutations

    Directory of Open Access Journals (Sweden)

    Tiina M. Heliö

    2013-06-01

    Full Text Available Knowledge on the molecular background of mitochondrial disorders has accumulated during the past two decades, but clinical and molecular features of mitochondrial cardiomyopathies (CMPs are only starting to be characterized. We studied the detailed cardiologic phenotype of patients with adult-onset CMPs associated with mitochondrial DNA (mtDNA mutations and their relatives, from three families. We identified a pathogenic T3258C point mutation of mtDNA tRNALeu(UUR in an adult patient with mitochondrial myopathy and CMP, with acute manifestation of dyspnea and elevated plasma N-terminal pro-B-type natriuretic peptide concentration. Two other families with maternally segregated CMP, fatal in three patients, had the A3243G mutation in tRNALeu(UUR of mtDNA. Many of the mutation carriers, even if oligosymptomatic, had concentric, non-obstructive hypertrophic CMP with diastolic dysfunction or restrictive hemodynamics, or depression of systolic function especially at times when patients had lactic acidosis. Atrial fibrillation led to manifest heart failure in four patients, fatal in one. In conclusion, tRNALeu(UUR mutations in mtDNA may underlie mitochondrial non-obstructive, sometimes fatal, hypertrophic CMPs of adult age. Such CMPs are characterized by left ventricular hypertrophy and poor tolerance of atrial arrhythmias, often leading to rapidly deteriorating systolic function and heart failure. These patients benefit of rapid intervention of tachyarrhythmias. These patients may not have neurological symptoms, and may therefore remain underdiagnosed. Our observations emphasize that patients with tRNALeu(UUR mutations need cardiologic evaluation and follow- up. tRNALeu(UUR mutations should be screened of patients with hypertrophic CMP and metabolic acidosis, especially if atrial arrhythmia provoked cardiac decompensation.

  11. Comparison of left atrial size and function in hypertrophic cardiomyopathy and in Fabry disease with left ventricular hypertrophy.

    Science.gov (United States)

    Saccheri, María Cristina; Cianciulli, Tomás Francisco; Challapa Licidio, Wilde; Lax, Jorge A; Beck, Martín A; Morita, Luis A; Gagliardi, Juan A

    2018-02-19

    Fabry disease (FD) and hypertrophic cardiomyopathy (HCM) are two diseases with a different pathophysiology, both cause left ventricular hypertrophy (LVH) and myocardial fibrosis. Although remodeling and systolic dysfunction of the left atrium (LA) are associated with atrial fibrillation and stroke in HCM, changes in the size and function of the LA have not been well studied in FD with LVH. The following groups were studied prospectively, and their respective findings compared: 19 patients with non-obstructive HCM (Group I), 20 patients with a diagnosis of Fabry cardiomyopathy (Group II), and 20 normal subjects matched for sex and age (Group III). Left ventricular mass index was measured using Devereux' formula, left atrial volume with Simpson's biplane method and left atrial mechanical function, including strain and strain rate, was measured using the speckle tracking technique. Strain and strain rate of the reservoir were measured during the three phases: reservoir (SR S), passive conduit (SR E) and atrial contraction (SR A). Patients with HCM had a larger left atrial volume than patients with FD (48.16 ± 14.3 mL/m 2 vs 38.9 ± 14.9 mL/m 2 respectively, P cardiomyopathy, affecting the three phasic functions of the LA. Although in patients with HCM left atrial volume is larger than in patients with FD, both disorders exhibit severe decrease in left atrial function. These findings should be considered, given the potentially serious complications that can occur with the two diseases. © 2018 Wiley Periodicals, Inc.

  12. Magnetic resonance imaging of hypertrophic cardiomyopathy. Evaluation of diastolic function; MRT-Bildgebung bei hypertropher Kardiomyopathie (HCM). Evaluation der diastolischen Funktion

    Energy Technology Data Exchange (ETDEWEB)

    Schwarz, F.; Reiser, M.F.; Theisen, D. [Klinikum der Ludwig-Maximilians-Universitaet Muenchen, Campus Grosshadern, Institut fuer Klinische Radiologie, Muenchen (Germany); Deutsches Zentrum fuer Herzkreislaufforschung (DZHK), Muenchen (Germany); Schwab, F. [Klinikum der Ludwig-Maximilians-Universitaet Muenchen, Campus Grosshadern, Institut fuer Klinische Radiologie, Muenchen (Germany); Klinikum der Ludwig-Maximilians-Universitaet Muenchen, Josef Lissner Laboratory for Biomedical Imaging, Institut fuer Klinische Radiologie, Muenchen (Germany); Beckmann, B.M.; Schuessler, F.; Kaeaeb, S. [Klinikum der Ludwig-Maximilians-Universitaet Muenchen, Medizinische Klinik und Poliklinik I, Muenchen (Germany); Zinsser, D.; Goelz, T. [Klinikum der Ludwig-Maximilians-Universitaet Muenchen, Campus Grosshadern, Institut fuer Klinische Radiologie, Muenchen (Germany)

    2013-01-15

    Hypertrophic cardiomyopathy (HCM) has a prevalence of approximately 0.2% and is clinically asymptomatic in many patients or presents with unspecific symptoms. This explains the importance of imaging for the diagnosis of HCM as well as for the assessment of the clinical course. The definitive finding in HCM is myocardial hypertrophy with thickening of the ventricular wall {>=} 15 mm. While echocardiography is an excellent screening tool magnetic resonance imaging (MRI) allows a comprehensive analysis of the heart in HCM. This includes a detailed analysis of the distribution and extent of myocardial hypertrophy, a thorough evaluation of systolic and diastolic cardiac function, the assessment of the presence and extent of dynamic outflow tract obstruction as well as the description of the systolic anterior motion (SAM) phenomenon of the mitral valve with secondary mitral insufficiency. When contrast material is administered, additional information about myocardial perfusion as well as the presence and extent of myocardial fibrosis can be obtained. This study compared systolic functional parameters as well as end systolic and end diastolic wall thickness of patients with and without diastolic dysfunction. (orig.) [German] Die hypertrophe Kardiomyopathie (HCM) hat eine Praevalenz von ca. 0,2% und verlaeuft in vielen Faellen zeitlebens klinisch asymptomatisch. Falls es zur Ausbildung von Symptomen kommt, sind diese oft unspezifisch. Dies erklaert den Stellenwert der Bildgebung bei der Erstdiagnose und Verlaufsbeurteilung der HCM. Leitbefund ist eine myokardiale Hypertrophie mit Wanddicken von {>=} 15 mm. Waehrend die Echokardiographie ein hervorragendes Screeningverfahren ist, erlaubt die MRT eine umfassende Feindiagnostik bei der HCM, zu der gezaehlt werden: eine genaue Darstellung des Verteilungsmusters und des Schweregrads der Hypertrophie, eine detaillierte Analyse der linksventrikulaeren systolischen und diastolischen Funktion, eine Beurteilung und Quantifizierung

  13. Left Ventricular Outflow Tract Obstruction in Hypertrophic Cardiomyopathy Patients Without Severe Septal Hypertrophy: Implications of Mitral Valve and Papillary Muscle Abnormalities Assessed Using Cardiac Magnetic Resonance and Echocardiography.

    Science.gov (United States)

    Patel, Parag; Dhillon, Ashwat; Popovic, Zoran B; Smedira, Nicholas G; Rizzo, Jessica; Thamilarasan, Maran; Agler, Deborah; Lytle, Bruce W; Lever, Harry M; Desai, Milind Y

    2015-07-01

    In patients with hypertrophic cardiomyopathy and left ventricular outflow tract (LVOT) obstruction, but without basal septal hypertrophy, we sought to identify mitral valve (MV) and papillary muscle (PM) abnormalities that predisposed to LVOT obstruction, using echo and cardiac magnetic resonance. We studied 121 patients with hypertrophic cardiomyopathy hypertrophic cardiomyopathy (age, 49±17 years; 60% men; 57% on β-blockers) with a basal septal thickness of ≤1.8 cm who underwent echocardiography (rest+stress) and cine cardiac magnetic resonance. Echo measurements included maximal LVOT gradient (rest/provocable), MV leaflet length (parasternal long, 4 and 3-chamber views), and abnormal chordal attachment to mid/base of anterior MV. Cine cardiac magnetic resonance measurements included basal septal thickness, number/area of PM heads, and bifid PM mobility (in systole and diastole). Mean basal septal thickness, LVOT gradient, and LV ejection fraction were 1.5±0.3 cm, 72±54 mm Hg, and 61±6%, respectively. The number of anterolateral and posteromedial PM heads was 2.7±0.7 and 2.6±0.7, respectively. Anterolateral and posteromedial PM areas were 19.9±7 cm(2) and 17.1±6 cm(2), respectively. PM mobility was 11±6°. On multivariable analysis, predictors of maximal LVOT gradient were basal septal thickness, bifid PM mobility, anterior mitral leaflet length, and abnormal chordal attachment to base of anterior mitral leaflet. Forty-five patients underwent surgery to relieve LVOT obstruction, of which 52% needed an additional nonmyectomy (MV repair/replacement or PM reorientation) approach. In hypertrophic cardiomyopathy patients without significant LV hypertrophy, in addition to basal septal thickness, anterior MV length, abnormal chordal attachment, and bifid PM mobility are associated with LVOT obstruction. In such patients, additional procedures on MV and PM (±myectomy) could be considered. © 2015 American Heart Association, Inc.

  14. Anti-calreticulin antibodies and calreticulin in sera of patients diagnosed with dilated or hypertrophic cardiomyopathy

    Czech Academy of Sciences Publication Activity Database

    Sánchez, Daniel; Gregor, P.; Čurila, K.; Hoffmanová, I.; Hábová, Věra; Tučková, Ludmila; Tlaskalová-Hogenová, Helena

    2016-01-01

    Roč. 49, č. 8 (2016), s. 554-562 ISSN 0891-6934 R&D Projects: GA ČR GA13-14608S; GA TA ČR TA04010762 Institutional support: RVO:61388971 Keywords : Anti-calreticulin antibodies * calreticulin * dilated cardiomyopathy Subject RIV: EC - Immunology Impact factor: 2.629, year: 2016

  15. Ablation of plasma membrane Ca(2+)-ATPase isoform 4 prevents development of hypertrophy in a model of hypertrophic cardiomyopathy.

    Science.gov (United States)

    Prasad, Vikram; Lorenz, John N; Lasko, Valerie M; Nieman, Michelle L; Jiang, Min; Gao, Xu; Rubinstein, Jack; Wieczorek, David F; Shull, Gary E

    2014-12-01

    The mechanisms linking the expression of sarcomeric mutant proteins to the development of pathological hypertrophy in hypertrophic cardiomyopathy (HCM) remain poorly understood. We investigated the role of the plasma membrane Ca(2+)-ATPase PMCA4 in the HCM phenotype using a transgenic model that expresses mutant (Glu180Gly) α-tropomyosin (Tm180) in heart. Immunoblot analysis revealed that cardiac PMCA4 expression was upregulated early in Tm180 disease pathogenesis. This was accompanied by an increase in levels of the L-type Ca(2+)-channel, which is implicated in pathological hypertrophy. When Tm180 mice were crossed with a PMCA4-null line, loss of PMCA4 caused the abrogation of hypertrophy in Tm180/PMCA4-null double mutant mice. RT-PCR analysis of Tm180/PMCA4-null hearts revealed blunting of the fetal program and reversion of pro-fibrotic Col1a1 and Col3a1 gene expression to wild-type levels. This was accompanied by evidence of reduced L-type Ca(2+)-channel expression, and diminished calcineurin activity. Expression of the metabolic substrate transporters glucose transporter 4 and carnitine palmitoyltransferase 1b was preserved and Tm180-related changes in mRNA levels of various contractile stress-related proteins including the cardiac ankyrin protein CARP and the N2B isoform of titin were reversed in Tm180/PMCA4-null hearts. cGMP levels were increased and phosphorylation of vasodilator-stimulated phosphoprotein was elevated in Tm180/PMCA4-null hearts. These changes were associated with a sharp reduction in left ventricular end-diastolic pressure in Tm180/PMCA4-null hearts, which occurred despite persistence of Tm180-related impairment of relaxation dynamics. These results reveal a novel and specific role for PMCA4 in the Tm180 hypertrophic phenotype, with the "protective" effects of PMCA4 deficiency encompassing multiple determinants of HCM-related hypertrophy. Copyright © 2014 Elsevier Ltd. All rights reserved.

  16. Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    Timothy J Cashman

    Full Text Available Hypertrophic cardiomyopathy (HCM is a leading cause of sudden cardiac death that often goes undetected in the general population. HCM is also prevalent in patients with cardio-facio-cutaneous syndrome (CFCS, which is a genetic disorder characterized by aberrant signaling in the RAS/MAPK signaling cascade. Understanding the mechanisms of HCM development in such RASopathies may lead to novel therapeutic strategies, but relevant experimental models of the human condition are lacking. Therefore, the objective of this study was to develop the first 3D human engineered cardiac tissue (hECT model of HCM. The hECTs were created using human cardiomyocytes obtained by directed differentiation of induced pluripotent stem cells derived from a patient with CFCS due to an activating BRAF mutation. The mutant myocytes were directly conjugated at a 3:1 ratio with a stromal cell population to create a tissue of defined composition. Compared to healthy patient control hECTs, BRAF-hECTs displayed a hypertrophic phenotype by culture day 6, with significantly increased tissue size, twitch force, and atrial natriuretic peptide (ANP gene expression. Twitch characteristics reflected increased contraction and relaxation rates and shorter twitch duration in BRAF-hECTs, which also had a significantly higher maximum capture rate and lower excitation threshold during electrical pacing, consistent with a more arrhythmogenic substrate. By culture day 11, twitch force was no longer different between BRAF and wild-type hECTs, revealing a temporal aspect of disease modeling with tissue engineering. Principal component analysis identified diastolic force as a key factor that changed from day 6 to day 11, supported by a higher passive stiffness in day 11 BRAF-hECTs. In summary, human engineered cardiac tissues created from BRAF mutant cells recapitulated, for the first time, key aspects of the HCM phenotype, offering a new in vitro model for studying intrinsic mechanisms and

  17. Investigations into the Sarcomeric Protein and Ca2+-Regulation Abnormalities Underlying Hypertrophic Cardiomyopathy in Cats (Felix catus

    Directory of Open Access Journals (Sweden)

    Andrew E. Messer

    2017-06-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is the most common single gene inherited cardiomyopathy. In cats (Felix catus HCM is even more prevalent and affects 16% of the outbred population and up to 26% in pedigree breeds such as Maine Coon and Ragdoll. Homozygous MYBPC3 mutations have been identified in these breeds but the mutations in other cats are unknown. At the clinical and physiological level feline HCM is closely analogous to human HCM but little is known about the primary causative mechanism. Most identified HCM causing mutations are in the genes coding for proteins of the sarcomere. We therefore investigated contractile and regulatory proteins in left ventricular tissue from 25 cats, 18 diagnosed with HCM, including a Ragdoll cat with a homozygous MYBPC3 R820W, and 7 non-HCM cats in comparison with human HCM (from septal myectomy and donor heart tissue. Myofibrillar protein expression was normal except that we observed 20–44% MyBP-C haploinsufficiency in 5 of the HCM cats. Troponin extracted from 8 HCM and 5 non-HCM cat hearts was incorporated into thin filaments and studied by in vitro motility assay. All HCM cat hearts had a higher (2.06 ± 0.13 fold Ca2+-sensitivity than non-HCM cats and, in all the HCM cats, Ca2+-sensitivity was not modulated by troponin I phosphorylation. We were able to restore modulation of Ca2+-sensitivity by replacing troponin T with wild-type protein or by adding 100 μM Epigallocatechin 3-gallate (EGCG. These fundamental regulatory characteristics closely mimic those seen in human HCM indicating a common molecular mechanism that is independent of the causative mutation. Thus, the HCM cat is a potentially useful large animal model.

  18. Investigations into the Sarcomeric Protein and Ca2+-Regulation Abnormalities Underlying Hypertrophic Cardiomyopathy in Cats (Felix catus)

    Science.gov (United States)

    Messer, Andrew E.; Chan, Jasmine; Daley, Alex; Copeland, O'Neal; Marston, Steven B.; Connolly, David J.

    2017-01-01

    Hypertrophic cardiomyopathy (HCM) is the most common single gene inherited cardiomyopathy. In cats (Felix catus) HCM is even more prevalent and affects 16% of the outbred population and up to 26% in pedigree breeds such as Maine Coon and Ragdoll. Homozygous MYBPC3 mutations have been identified in these breeds but the mutations in other cats are unknown. At the clinical and physiological level feline HCM is closely analogous to human HCM but little is known about the primary causative mechanism. Most identified HCM causing mutations are in the genes coding for proteins of the sarcomere. We therefore investigated contractile and regulatory proteins in left ventricular tissue from 25 cats, 18 diagnosed with HCM, including a Ragdoll cat with a homozygous MYBPC3 R820W, and 7 non-HCM cats in comparison with human HCM (from septal myectomy) and donor heart tissue. Myofibrillar protein expression was normal except that we observed 20–44% MyBP-C haploinsufficiency in 5 of the HCM cats. Troponin extracted from 8 HCM and 5 non-HCM cat hearts was incorporated into thin filaments and studied by in vitro motility assay. All HCM cat hearts had a higher (2.06 ± 0.13 fold) Ca2+-sensitivity than non-HCM cats and, in all the HCM cats, Ca2+-sensitivity was not modulated by troponin I phosphorylation. We were able to restore modulation of Ca2+-sensitivity by replacing troponin T with wild-type protein or by adding 100 μM Epigallocatechin 3-gallate (EGCG). These fundamental regulatory characteristics closely mimic those seen in human HCM indicating a common molecular mechanism that is independent of the causative mutation. Thus, the HCM cat is a potentially useful large animal model. PMID:28642712

  19. Disease stage classification in hypertrophic cardiomyopathy by dual analysis of iodine-123-labeled metaiodobenzylguanidine and thallium-201 myocardial scintigraphies

    Energy Technology Data Exchange (ETDEWEB)

    Hiasa, Go [Ehime Univ., Matsuyama (Japan). School of Medicine

    2001-08-01

    Many patients with hypertrophic cardiomyopathy (HCM) gradually changes from typical myocardial hypertrophy to dilated cardiomyopathy-like features. However, it is difficult to estimate the disease stage in HCM. To determine the disease stage, dual analysis of iodine-123-labeled metaiodobenzylguanidine ({sup 123}I-MIBG) and thallium-201 ({sup 201}Tl) myocardial scintigraphies were performed in 108 HCM patients. According to the scintigraphic distribution patterns, patients were divided into three groups. Group A (n=15): normal distributions of both {sup 123}I-MIBG and {sup 201}Tl, group B (n=71): normal {sup 201}Tl and low {sup 123}I-MIBG patterns, group C (n=22): low distributions of both scintigraphies. The decrease in {sup 201}Tl uptake was observed in only group C. Concerning {sup 123}I-MIBG, heart-to-mediastinum ratio (H/M) and washout rate (WOR) had good correlations with left ventricular systolic functions. H/M was decreased and WOR was increased in order of C, B and A groups. Left ventricular diastolic function reflected by isovolumic relaxation time was longer in group B than in group A. Attenuated left ventricular hypertrophy, enlarged left ventricular volumes, impaired left ventricular functions and serious clinical symptoms were observed in only group C. Myocardial sympathetic abnormalities in group B may be mainly due to myocardial hypertrophy, and those in group C may be due to myocardial injury. Dual analysis of {sup 123}I-MIBG and {sup 201}Tl scintigraphies may be useful to classify disease stages of HCM. (author)

  20. Association of angiotensin-converting enzyme activity and polymorphism with echocardiographic measures in familial and nonfamilial hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    P.C. Buck

    2009-08-01

    Full Text Available Angiotensin-converting enzyme (ACE activity and polymorphism contribute significantly to the prognosis of patients with cardiomyopathy. The aim of this study was to determine the activity and type of ACE polymorphism in patients with familial and nonfamilial hypertrophic cardiomyopathy (HCM and to correlate these with echocardiographic measurements (echo-Doppler. We studied 136 patients (76 males with HCM (69 familial and 67 nonfamilial cases. Mean age was 41 ± 17 years. DNA was extracted from blood samples for the polymerase chain reaction and the determination of plasma ACE levels. Left ventricular mass, interventricular septum, and wall thickness were measured. Mean left ventricular mass index, interventricular septum and wall thickness in familial and nonfamilial forms were 154 ± 63 and 174 ± 57 g/m² (P = 0.008, 19 ± 5 and 21 ± 5 mm (P = 0.02, and 10 ± 2 and 12 ± 3 mm (P = 0.0001, respectively. ACE genotype frequencies were DD = 35%, ID = 52%, and II = 13%. A positive association was observed between serum ACE activity and left ventricular mass index (P = 0.04. Logistic regression showed that ACE activity was twice as high in patients with familial HCM and left ventricular mass index ≥190 g/m² compared with the nonfamilial form (P = 0.02. No other correlation was observed between ACE polymorphisms and the degree of myocardial hypertrophy. In conclusion, ACE activity, but not ACE polymorphisms, was associated with the degree of myocardial hypertrophy in the patients with HCM.

  1. Apical left ventricular hypertrophy and mid-ventricular obstruction in fabry disease.

    Science.gov (United States)

    Cianciulli, Tomás F; Saccheri, María C; Fernández, Segundo P; Fernández, Cinthia C; Rozenfeld, Paula A; Kisinovsky, Isaac

    2015-05-01

    We report the case of a rare cardiac presentation of Fabry disease. Although concentric left ventricular hypertrophy is a major cardiac finding in Fabry disease, there is no case report of dynamic obstruction at mid-left ventricular level. We describe a 59-year-old-woman suffering from a severe form of Fabry disease, mimicking an apical hypertrophic cardiomyopathy with mid-ventricular obstruction. Differentiation of Fabry disease from hypertrophic cardiomyopathy is crucial given the therapeutic and prognostic differences. Fabry disease should always be suspected in an adult, independently of the pattern of left ventricular hypertrophy. © 2015, Wiley Periodicals, Inc.

  2. 3.0 T magnetic resonance myocardial perfusion imaging for semi-quantitative evaluation of coronary microvascular dysfunction in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Yin, Liang; Xu, Hai-Yan; Zheng, Sui-Sheng; Zhu, Ying; Xiao, Jiang-Xi; Zhou, Wei; Yu, Si-Si; Gong, Liang-Geng

    2017-12-01

    This study aimed to assess coronary microvascular dysfunction (CMD) differences in hypertrophic cardiomyopathy (HCM) patients using cardiac magnetic resonance (CMR) first-pass perfusion and late gadolinium enhancement imaging. Forty-seven patients with HCM and twenty-one healthy volunteers underwent CMR at rest. Imaging protocols included short axis cine, first-pass myocardial perfusion, and late gadolinium enhancement (LGE). Left ventricular end-diastolic wall thickness (EDTH), LGE, time to peak (T peak ), maximal up-slope (Slope max ), and peak signal intensity (SI peak ) were assessed for each myocardial segment. The HCM myocardial segments were grouped by the degree of LGE and hypertrophy. T peak , SI peak , Slope max and EDTH in multiple groups were assessed and compared by ANOVA test/Kruskal-Wallis test. The Spearman correlation test was used to determine the relationships between EDTH, LGE and perfusion parameters (T peak , Slope max and SI peak ). Compared to control group segments, T peak increased while Slope max and SI peak decreased in non-LGE/non-hypertrophic segments and LGE/hypertrophic segments in the HCM group, while T peak increased more significantly in LGE/hypertrophic segments (all p hypertrophic segments of HCM patients, and it may be helpful in the early diagnosis of coronary microvascular dysfunction in HCM. This abnormal perfusion is associated with the severity of myocardial fibrosis and the degree of hypertrophy.

  3. The flexibility of two tropomyosin mutants, D175N and E180G, that cause hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Li, Xiaochuan; Suphamungmee, Worawit [Department of Physiology and Biophysics, Boston University School of Medicine, Boston, MA 02118 (United States); Janco, Miro; Geeves, Michael A. [School of Biosciences, University of Kent, Canterbury, Kent CT2 7NJ (United Kingdom); Marston, Steven B. [National Heart and Lung Institute, Imperial College London, London W12 0NN (United Kingdom); Fischer, Stefan, E-mail: stefan.fischer@iwr.uni-heidelberg.de [Computational Biochemistry Group, University of Heidelberg, Heidelberg D-69120 (Germany); Lehman, William, E-mail: wlehman@bu.edu [Department of Physiology and Biophysics, Boston University School of Medicine, Boston, MA 02118 (United States)

    2012-08-03

    Highlights: Black-Right-Pointing-Pointer Well-known tropomyosin mutants, D175N and E180G are linked to cardiomyopathies. Black-Right-Pointing-Pointer The structural mechanics of D175N and E180G tropomyosins have been investigated. Black-Right-Pointing-Pointer D175N and E180G mutations increase both local and global tropomyosin flexibility. Black-Right-Pointing-Pointer In muscle, this increased flexibility will enhance myosin interactions on actin. Black-Right-Pointing-Pointer Extra myosin interaction can alter cardiac Ca{sup 2+}-switching, leading to dysfunction. -- Abstract: Point mutations targeting muscle thin filament proteins are the cause of a number of cardiomyopathies. In many cases, biological effects of the mutations are well-documented, whereas their structural and mechanical impact on filament assembly and regulatory function is lacking. In order to elucidate molecular defects leading to cardiac dysfunction, we have examined the structural mechanics of two tropomyosin mutants, E180G and D175N, which are associated with hypertrophic cardiomyopathy (HCM). Tropomyosin is an {alpha}-helical coiled-coil dimer which polymerizes end-to-end to create an elongated superhelix that wraps around F-actin filaments of muscle and non-muscle cells, thus modulating the binding of other actin-binding proteins. Here, we study how flexibility changes in the E180G and D175N mutants might affect tropomyosin binding and regulatory motion on F-actin. Electron microscopy and Molecular Dynamics simulations show that E180G and D175N mutations cause an increase in bending flexibility of tropomyosin both locally and globally. This excess flexibility is likely to increase accessibility of the myosin-binding sites on F-actin, thus destabilizing the low-Ca{sup 2+} relaxed-state of cardiac muscle. The resulting imbalance in the on-off switching mechanism of the mutants will shift the regulatory equilibrium towards Ca{sup 2+}-activation of cardiac muscle, as is observed in affected

  4. Vascular Endothelial Growth Factor Is Associated with the Morphologic and Functional Parameters in Patients with Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Radek Pudil

    2015-01-01

    Full Text Available Background. Hypertrophic cardiomyopathy (HCM is mostly autosomal dominant disease of the myocardium, which is characterized by myocardial hypertrophy. Vascular endothelial growth factor (VEGF is involved in myocyte function, growth, and survival. The aim of study was to analyze the clinical significance of VEGF in structural and functional changes in patient with HCM. Methods. In a group of 21 patients with nonobstructive HCM, we assessed serum VEGF and analyzed its association with morphological and functional parameters. Compared to healthy controls, serum VEGF was increased: 199 (IQR: 120.4–260.8 ng/L versus 20 (IQR: 14.8–37.7 ng/L, P<0.001. VEGF levels were associated with left atrium diameter (r=0.51, P=0.01, left ventricle ejection fraction (r=-0.56, P=0.01, fractional shortening (r=-0.54, P=0.02, left ventricular mass (r=0.61, P=0.03, LV mass index (r=0.46, P=0.04, vena cava inferior diameter (r=0.65, P=0.01, and peak gradient of tricuspid regurgitation (r=0.46, P=0.03. Conclusions. Increased VEGF level is associated with structural and functional parameters in patients with HCM and serves as a potential tool for diagnostic process of these patients.

  5. Decreased coronary vasodilatory capacity in hypertrophic cardiomyopathy determined by split-dose thallium-dipyridamole myocardial scintigraphy

    Energy Technology Data Exchange (ETDEWEB)

    Koga, Y.; Yamaguchi, R.; Ogata, M.; Kihara, K.; Toshima, H. (Kurume Univ. School of Medicine (Japan))

    1990-05-01

    Split-dose thallium-dipyridamole myocardial scintigraphy was performed in patients with nonobstructive hypertrophic cardiomyopathy (HC) who had angiographically normal coronary arteries. The dipyridamole-induced increases in thallium-201 uptake, calculated to evaluate coronary vasodilatory capacity, were significantly lower in 30 patients with HC than in 13 control subjects (177 +/- 58 vs 281 +/- 46%) and the reductions were observed in both the septal and lateral segments. The reductions of the septal segment in HC patients were significantly greater than those in 10 hypertensive patients with comparable degrees of septal hypertrophy. Of patients with HC, 16 had increases in thallium uptake well below the normal range. Compared with those having normal increases, these patients had significantly lower exercise duration (11 vs 15 minutes), with 33% having ST depression develop at a workload less than or equal to 80 watts. These data indicate that approximately one-half of patients with HC have impaired coronary vasodilatory capacity that could be an important pathophysiologic abnormality of HC resulting in the development of myocardial ischemia and the impairment of cardiac performance during exercise.

  6. Effect of verapamil on myocardial ischemia in patients with hypertrophic cardiomyopathy; Evaluation by exercise thallium-201 SPECT

    Energy Technology Data Exchange (ETDEWEB)

    Taniguchi, Yoko; Sugihara, Hiroki; Ohtsuki, Katsuichi (Kyoto Prefectural Univ. of Medicine (Japan)) (and others)

    The effect of verapamil myocardial ischemia in patients with hypertrophic cardiomyopathy (HCM) was evaluated exercise myocardial [sup 201]TlSPECT (EX-Tl). EX-Tl was performed before and after 8.1[+-]6.1 weeks of oral administration of verapamil (240 mg/day) on 20 patients with HCM who showed transient [sup 201]Tl perfusion defects under control conditions. SPECT images were divided into nine segments. The [sup 201]Tl perfusion defect was visually scored and evaluated for four grades in each segment and the sum total grade was calculated as the defect score. Transient dilation index was calculated as a reflection of subendocardial ischemia. Improvements in defect score were demonstrated in 18 of 20 patients after administration of verapamil. The mean defect score decreased significantly from 5.1[+-]2.3 to 2.5[+-]2.4 (p<0.001). Although 18 of 20 patients showed abnormal transient dilation index under control conditions, 16 showed improvement and 12 were normalized after verapamil therapy. Mean transient dilation index decreased from 1.24[+-]0.19 to 1.08[+-]0.10 (p<0.01). Verapamil improves myocardial ischemia on patients with HCM. (author).

  7. Kinetics of a single cross-bridge in familial hypertrophic cardiomyopathy heart muscle measured by reverse Kretschmann fluorescence

    Science.gov (United States)

    Mettikolla, Prasad; Calander, Nils; Luchowski, Rafal; Gryczynski, Ignacy; Gryczynski, Zygmunt; Borejdo, Julian

    2010-01-01

    Familial hypertrophic cardiomyopathy (FHC) is a serious heart disease that often leads to a sudden cardiac death of young athletes. It is believed that the alteration of the kinetics of interaction between actin and myosin causes FHC by making the heart to pump blood inefficiently. We set out to check this hypothesis ex vivo. During contraction of heart muscle, a myosin cross-bridge imparts periodic force impulses to actin. The impulses are analyzed by fluorescence correlation spectroscopy (FCS) of fluorescently labeled actin. To minimize observation volume and background fluorescence, we carry out FCS measurements in surface plasmon coupled emission mode in a reverse Kretschmann configuration. Fluorescence is a result of near-field coupling of fluorophores excited in the vicinity of the metal-coated surface of a coverslip with the surface plasmons propagating in the metal. Surface plasmons decouple on opposite sides of the metal film and emit in a directional manner as far-field p-polarized radiation. We show that the rate of changes of orientation is significantly faster in contracting cardiac myofibrils of transgenic mice than wild type. These results are consistent with the fact that mutated heart muscle myosin translates actin faster in in vitro motility assays.

  8. Therapeutic effects of oral dipyridamole on myocardial perfusion and left ventricular function in patients with hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Kihara, Kazuo (Kurume Univ., Fukuoka (Japan). School of Medicine)

    1990-02-01

    As myocardial ischemia possibly due to small vessel coronary disease has been reported in hypertrophic cardiomyopathy (HCM), we investigated therapeutic efficacy of oral dipyridamole (DP) in 20 patients. DP of 150 mg/day for 2 weeks significantly increased septal washout rate (39{plus minus}14 to 45{plus minus}11%) in exercise Tl-201 myocardial imaging, improving reversible defects in 6 patients. The result further supported that small vessel coronary disease could induce myocardial ischemia in HCM. In RI angiography DP increased ejection fraction (50{plus minus}9 to 53{plus minus}7%) and peak filling rate (1.9{plus minus}0.6 to 2.0{plus minus}0.5 sec{sup -1}) at rest. DP also improved subjective symptoms, cardiac size and atrial premature beats in Holter monitoring. In exercise test, maximal work load was increased from 7.6{plus minus}2.0 to 8.3{plus minus}1.4 METS. These observations indicate that oral DP is an useful drug for treatment of HCM, in improving subjective symptoms, left ventricular function, exercise tolerance and arrhythmias, possibly due to beneficial effects on myocardial perfusion and afterload reduction. (author).

  9. Effects of flecainide on left ventricular pressure gradient and symptoms in obstructive hypertrophic cardiomyopathy: a comparison of flecainide and disopyramide.

    Science.gov (United States)

    Haruki, Shintaro; Minami, Yuichiro; Suzuki, Atsushi; Hagiwara, Nobuhisa

    2015-09-01

    It remains unclear whether flecainide, a Class I antiarrhythmic drug, improves left ventricular pressure gradient (LVPG) or symptoms in patients with obstructive hypertrophic cardiomyopathy (HCM). Our study evaluated the long-term efficacy of flecainide, compared to disopyramide, when administered orally, on LVPG and symptoms in obstructive HCM patients. Among 164 obstructive HCM patients, 15 were administered oral flecainide therapy and 33 administered oral disopyramide therapy. LVPG declined from 79.8 ± 36.6 to 39.2 ± 36.7 mmHg (p = 0.003) after flecainide therapy and from 74.5 ± 26.4 to 31.4 ± 24.8 mmHg (p symptoms. Improvements in LVPG and symptoms were similar in patients treated with flecainide and patients treated with disopyramide, suggesting that flecainide is a potentially useful alternative for symptomatic obstructive HCM patients, particularly those with disopyramide-induced vagolytic side effects, narrow angle glaucoma, or prostatic hyperplasia and pre-existing urination difficulties. Our data must be viewed with caution, however, in view of the small number of study patients. Flecainide therapy will require further proof of safety before it can be routinely recommended in patients with symptomatic obstructive HCM.

  10. Cardiac symptoms before sudden cardiac death caused by hypertrophic cardiomyopathy: a nationwide study among the young in Denmark.

    Science.gov (United States)

    Lynge, Thomas Hadberg; Risgaard, Bjarke; Jabbari, Reza; Glinge, Charlotte; Bundgaard, Henning; Maron, Barry; Haunsø, Stig; Winkel, Bo Gregers; Tfelt-Hansen, Jacob

    2016-12-01

    Hypertrophic cardiomyopathy (HCM) is a frequent cause of sudden cardiac death (SCD) among the young (SCDY). The aim of this study was to characterize symptoms before SCDY due to HCM. Through review of all death certificates, we identified all SCDs in Danes aged 1-35 years in 2000-2009. Nationwide we included all deaths (n = 8756) and identified 431 autopsied SCDYs. All available records from hospitals and general practitioners were retrieved. To compare symptoms, we included a control groups consisting of traffic accident victims (n = 74). In the 10-year study period, 431 autopsied SCDY cases were reviewed and 38 cases (9%) were included, of which 22 (58%) had morphologic findings diagnostic of HCM and 16 (42%) had findings suggestive, but not diagnostic, of HCM ('possible HCM'). Cardiac symptoms >1 h prior to death were reported in 21 (55%) of cases, and 16 (42%) sought medical attention. One (1%) control had cardiac symptoms before death. Consequently, a significantly higher proportion of cases had cardiac symptoms before death and cases more often sought medical attention than controls (P symptoms prior to death in SCDY cases who died of HCM, as 55% had cardiac symptoms and nearly half of the cases sought medical attention. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2016. For permissions please email: journals.permissions@oup.com.

  11. Effect of verapamil on myocardial ischemia in patients with hypertrophic cardiomyopathy; Evaluation by exercise [sup 201]Tl SPECT

    Energy Technology Data Exchange (ETDEWEB)

    Taniguchi, Yoko; Sugihara, Hiroki; Ootsuki, Katsuichi (Kyoto Prefectural Univ. of Medicine (Japan)) (and others)

    1993-01-01

    Effect of verapamil on myocardial ischemia in patients with hypertrophic cardiomyopathy (HCM) was evaluated by exercise stress myocardial [sup 201]Tl SPECT (EX-Tl). EX-Tl was performed before and after 8.8 weeks of oral verapamil (240 mg/day) in 12 patients with HCM who showed transient [sup 201]Tl perfusion defects under control conditions. [sup 201]Tl perfusion defect was visually scored and judged for 4 grades as normal (0), mild defect (1), moderate defect (2), and severe defect (3). Transient dilation index (TDI) was calculated as an index of subendocardial ischemia. Improvements of defect score were demonstrated in 10 patients after administration of verapamil. Two patients showed no change of defect score. Mean defect score decreased significantly from 5.50 to 3.03 (p<0.001). Although 11 of 12 patients showed abnormal TDI under control conditions, 10 of these revealed improvements of TDI and 7 of the 10 disclosed normal TDI after verapamil. Mean TDI decreased from 1.263 to 1.090 significantly (p<0.01). In conclusion, verapamil may improve myocardial ischemia in patients with HCM. (author).

  12. Evaluation of a motion artifacts removal approach on breath-hold cine-magnetic resonance images of hypertrophic cardiomyopathy subjects

    Science.gov (United States)

    Betancur, Julián.; Simon, Antoine; Schnell, Frédéric; Donal, Erwan; Hernández, Alfredo; Garreau, Mireille

    2013-11-01

    The acquisition of ECG-gated cine magnetic resonance images of the heart is routinely performed in apnea in order to suppress the motion artifacts caused by breathing. However, many factors including the 2D nature of the acquisition and the use of di erent beats to acquire the multiple-view cine images, cause this kind of artifacts to appear. This paper presents the qualitative evaluation of a method aiming to remove motion artifacts in multipleview cine images acquired on patients with hypertrophic cardiomyopathy diagnosis. The approach uses iconic registration to reduce for in-plane artifacts in long-axis-view image stacks and in-plane and out-of-plane motion artifacts in sort-axis-view image stack. Four similarity measures were evaluated: the normalized correlation, the normalized mutual information, the sum of absolute voxel di erences and the Slomka metric proposed by Slomka et al. The qualitative evaluation assessed the misalignment of di erent anatomical structures of the left ventricle as follows: the misalignment of the interventricular septum and the lateral wall for short-axis-view acquisitions and the misalignment between the short-axis-view image and long-axis-view images. Results showed the correction using the normalized correlation as the most appropriated with an 80% of success.

  13. A Pregnancy with Severe Hypertrophic Obstructive Cardiomyopathy after Surgery for an Implantable Cardioverter Defibrillator: A Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Takashi Mitsui

    2016-01-01

    Full Text Available Hypertrophic obstructive cardiomyopathy (HOCM is cardiac hypertrophy of ventricular myocardium with left ventricular outflow tract obstruction. We report a pregnancy with HOCM after defibrillator implantation surgery. The patient was a 33-year-old nulligravida and was categorized as New York Heart Association class II. Her brain natriuretic peptide (BNP level was 724.6 pg/dL at preconception. She received careful pregnancy management. However, because frequent uterine contractions were observed at 25 weeks and 6 days of pregnancy, she was hospitalized, and magnesium sulfate was started as a tocolytic agent. At 27 weeks and 5 days of pregnancy, she had respiratory discomfort and orthopnea with a sudden decrease in peripheral oxygen saturation. Cardiac ultrasonography showed a worsened condition of HOCM and her BNP level was 1418.0 pg/mL. We performed an emergent cesarean section and she delivered a boy weighing 999 g. The Apgar score was 8 and 9 points at 1 and 5 minutes, respectively. The mother’s heart failure quickly improved after birth and she was discharged at 10 days postoperatively. Fluctuations in circulatory dynamics during pregnancy may sometimes exacerbate heart disease. Therefore, the risks should be fully explained and careful assessment of cardiac function should be performed during pregnancy in patients with severe HOCM.

  14. A mutation in the {beta}-myosin rod associated with hypertrophic cardiomyopathy has an unexpected molecular phenotype

    Energy Technology Data Exchange (ETDEWEB)

    Armel, Thomas Z. [Department of Molecular, Cellular, and Developmental Biology, University of Colorado, Boulder, CO 80309 (United States); Leinwand, Leslie A., E-mail: leslie.leinwand@colorado.edu [Department of Molecular, Cellular, and Developmental Biology, University of Colorado, Boulder, CO 80309 (United States)

    2010-01-01

    Hypertrophic cardiomyopathy (HCM) is a common, autosomal dominant disorder primarily characterized by left ventricular hypertrophy and is the leading cause of sudden cardiac death in youth. HCM is caused by mutations in several sarcomeric proteins, with mutations in MYH7, encoding {beta}-MyHC, being the most common. While many mutations in the globular head region of the protein have been reported and studied, analysis of HCM-causing mutations in the {beta}-MyHC rod domain has not yet been reported. To address this question, we performed an array of biochemical and biophysical assays to determine how the HCM-causing E1356K mutation affects the structure, stability, and function of the {beta}-MyHC rod. Surprisingly, the E1356K mutation appears to thermodynamically destabilize the protein, rather than alter the charge profile know to be essential for muscle filament assembly. This thermodynamic instability appears to be responsible for the decreased ability of the protein to form filaments and may be responsible for the HCM phenotype seen in patients.

  15. Correlation between myocardial fibrosis and the occurrence of atrial fibrillation in hypertrophic cardiomyopathy: A cardiac magnetic resonance imaging study

    Energy Technology Data Exchange (ETDEWEB)

    Pujadas, S., E-mail: sandrapujadas@gmail.co [Cardiac Imaging Unit, Cardiology Department, Hospital de la Santa Creu i Sant Pau, Av. Pare M Claret 167, 08025 Barcelona (Spain); Vidal-Perez, R. [Cardiac Imaging Unit, Cardiology Department, Hospital de la Santa Creu i Sant Pau, Av. Pare M Claret 167, 08025 Barcelona (Spain); Hidalgo, A. [Radiology Department, Hospital de la Santa Creu i Sant Pau, Av. Pare M Claret 167, 08025 Barcelona (Spain); Leta, R.; Carreras, F.; Barros, A. [Cardiac Imaging Unit, Cardiology Department, Hospital de la Santa Creu i Sant Pau, Av. Pare M Claret 167, 08025 Barcelona (Spain); Bayes-Genis, A. [Cardiomyopathy and Cardiac Transplant Unit, Cardiology Department, Hospital de la Santa Creu i Sant Pau, Av. Pare M Claret 167, 08025 Barcelona (Spain); Subirana, M.T. [Congenital Heart Disease Unit, Hospital de la Santa Creu i Sant Pau, Av. Pare M Claret 167, 08025 Barcelona (Spain); Pons-Llado, Guillem [Cardiac Imaging Unit, Cardiology Department, Hospital de la Santa Creu i Sant Pau, Av. Pare M Claret 167, 08025 Barcelona (Spain)

    2010-08-15

    Cardiac magnetic resonance imaging (CMR) in hypertrophic cardiomyopathy (HCM) often shows delayed contrast enhancement (DE) representing regions of focal myocardial fibrosis. Atrial fibrillation (AF) is a commonly reported complication of HCM. We determined the relationship between the presence of left ventricular myocardial fibrosis (LVMF) detected by DE-CMR and the occurrence AF in a series of patients with HCM. 67 patients with HCM (47 males; mean age 50.1 {+-} 18.5 years) were studied by CMR measuring mass of LVMF, left ventricular mass, volume and function, and left atrial (LA) area. AF was present in 17 (25%) patients. LVMF was observed in 57% of patients. AF was significantly more frequent in patients who also showed LVMF, compared with the group without LVMF (42.1% vs. 3.4%, respectively; p < 0.0001). LA size was larger in patients showing DE (LA area: 37.4 {+-} 11.1 vs. 25.9 {+-} 6.8 cm{sup 2}; respectively, p = 0.0001). AF in HCM is related with myocardial fibrosis detected by DE-CMR and dilatation of the LA. This fact adds to the proven adverse prognostic value of myocardial fibrosis in HCM, thus, reinforcing the usefulness of this technique in the assessment of these patients.

  16. Cardiac MRI assessed left ventricular hypertrophy in differentiating hypertensive heart disease from hypertrophic cardiomyopathy attributable to a sarcomeric gene mutation

    Energy Technology Data Exchange (ETDEWEB)

    Sipola, Petri [Kuopio University Hospital, Department of Clinical Radiology, Kuopio (Finland); University of Eastern Finland, Institute of Clinical Medicine, Faculty of Health Sciences, Kuopio (Finland); Magga, Jarkko; Peuhkurinen, Keijo [Kuopio University Hospital, Department of Medicine, Kuopio (Finland); Husso, Minna [Kuopio University Hospital, Department of Clinical Radiology, Kuopio (Finland); Jaeaeskelaeinen, Pertti; Kuusisto, Johanna [Kuopio University Hospital, Department of Medicine, Kuopio (Finland); Kuopio University Hospital, Heart Center, P.O. Box 1777, Kuopio (Finland)

    2011-07-15

    To evaluate the value of cardiac magnetic resonance imaging (CMRI)-assessed left ventricular hypertrophy (LVH) in differentiating between hypertensive heart disease and hypertrophic cardiomyopathy (HCM). 95 unselected subjects with mild-to-moderate hypertension, 24 patients with HCM attributable to the D175N mutation of the {alpha}-tropomyosin gene and 17 control subjects were studied by cine CMRI. Left ventricular (LV) quantitative and qualitative characteristics were evaluated. LV maximal end-diastolic wall thickness, wall thickness-to-LV volume ratio, end-diastolic septum thickness and septum-to-lateral wall thickness ratio were useful measures for differentiating between LVH due to hypertension and HCM. The most accurate measure for identifying patients with HCM was the LV maximal wall thickness {>=}17 mm, with a sensitivity, specificity, negative predictive value, positive predictive value, and accuracy of 90%, 93%, 86%, 95% and 91%, respectively. LV maximal wall thickness in the anterior wall, or regional bulging in left ventricular wall was found only in patients with HCM. LV mass index was not discriminant between patients with HCM and those with LVH due to hypertension. LV maximal thickness measured by CMRI is the best anatomical parameter in differentiating between LVH due to mild-to-moderate hypertension and HCM attributable to a sarcomeric mutation. CMRI assessment of location and quality of LVH is also of value in differential diagnosis. (orig.)

  17. Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Zou, Yubao; Wang, Jizheng; Liu, Xuan; Wang, Yilu; Chen, Yi; Sun, Kai; Gao, Shuo; Zhang, Channa; Wang, Zhimin; Zhang, Yin; Feng, Xinxing; Song, Ying; Wu, Yajie; Zhang, Hongju; Jia, Lei; Wang, Hu; Wang, Dong; Yan, Chaowu; Lu, Minjie; Zhou, Xianliang; Song, Lei; Hui, Rutai

    2013-06-01

    Genotype-phenotype correlation of hypertrophic cardiomyopathy (HCM) has been challenging because of the genetic and clinical heterogeneity. To determine the mutation profile of Chinese patients with HCM and to correlate genotypes with phenotypes, we performed a systematic mutation screening of the eight most commonly mutated genes encoding sarcomere proteins in 200 unrelated Chinese adult patients using direct DNA sequencing. A total of 98 mutations were identified in 102 mutation carriers. The frequency of mutations in MYH7, MYBPC3, TNNT2 and TNNI3 was 26.0, 18.0, 4.0 and 3.5 % respectively. Among the 200 genotyped HCM patients, 83 harbored a single mutation, and 19 (9.5 %) harbored multiple mutations. The number of mutations was positively correlated with the maximum wall thickness. We found that neither particular gene nor specific mutation was correlated to clinical phenotype. In summary, the frequency of multiple mutations was greater in Chinese HCM patients than in the Caucasian population. Multiple mutations in sarcomere protein may be a risk factor for left ventricular wall thickness.

  18. Myocardial glucose metabolism is different between hypertrophic cardiomyopathy and hypertensive heart disease associated with asymmetrical septal hypertrophy

    International Nuclear Information System (INIS)

    Shiba, Nobuyuki; Kagaya, Yutaka; Ishide, Nobumasa; Takeyama, Daiya; Yamane, Yuriko; Chida, Masanobu; Otani, Hiroki; Shirato, Kunio; Ido, Tatsuo.

    1997-01-01

    Myocardial glucose metabolism has been shown to be heterogeneous in patients with hypertrophic cardiomyopathy (HCM). We tested the hypothesis that myocardial glucose metabolism differs between patients with HCM and those with hypertensive heart disease (HHD) associated with asymmetrical septal hypertrophy. We studied 12 patients with HCM, 7 HHD patients associated with asymmetrical septal hypertrophy using 18 F 2-deoxyglucose (FDG) and positron emission tomography. We calculated % FDG fractional uptake in the interventricular septum and posterolateral wall. Heterogeneity of FDG uptake was evaluated by % interregional coefficient of variation of FDG fractional uptake in each wall segment. In both the interventricular septum and posterolateral wall, % FDG fractional uptake was not significantly different between the two groups. The % interregional coefficient of variation for both interventricular septum (10.6±1.6 vs. 4.1±0.5, p<0.01) and posterolateral wall (5.9±0.7 vs. 3.8±0.5, p< 0.05) was significantly larger in patients with HCM than in HHD patients associated with asymmetrical septal hypertrophy. Echocardiography demonstrated that the degree of asymmetrical septal hypertrophy was similar between the two groups. These results suggest that myocardial glucose metabolism may be more heterogeneous in patients with HCM compared to HHD patients associated with asymmetrical septal hypertrophy, although the left ventricular shape is similar. The difference in the heterogeneity might have resulted from differences in the pathogeneses of the two diseases. (author)

  19. Role of quantitative myocardial positron emission tomography for risk stratification in patients with hypertrophic cardiomyopathy: a 2016 reappraisal

    Energy Technology Data Exchange (ETDEWEB)

    Castagnoli, Helga; Passeri, Alessandro; Berti, Valentina; Sciagra, Roberto [University of Florence, Department of Experimental and Clinical Biomedical Sciences - Nuclear Medicine Unit, Firenze (Italy); Ferrantini, Cecilia; Coppini, Raffaele; Baldini, Katia; Cecchi, Franco; Olivotto, Iacopo [Careggi University Hospital, Referral Center for Myocardial Diseases and Genetic Diagnostics Unit, Florence (Italy)

    2016-12-15

    Myocardial blood flow <1.1 mL/min/g following dipyridamole (Dip-MBF) assessed by positron emission tomography (PET) was identified in 2003 as an important outcome predictor in hypertrophic cardiomyopathy (HCM), based on scans performed in the 90s. However, such extreme Dip-MBF impairment is rarely observed in contemporary cohorts. We, therefore, reassessed the Dip-MBF threshold defining high-risk HCM patients. Dip-MBF was measured using {sup 13}N-ammonia in 100 HCM consecutive patients, prospectively enrolled and followed for 4.0 ± 2.2 years. Outcome was assessed based on tertiles of Dip-MBF. The study end-point was a combination of cardiovascular death, progression to severe functional limitation, cardioembolic stroke, life-threatening ventricular arrhythmias. Global Dip-MBF was 1.95 ± 0.85, ranging from 0.7 to 5.9 mL/min/g. Dip-MBF tertile cut-off values were: 0.73 to 1.53 mL/min/g (lowest), 1.54 to 2.13 mL/min/g (middle), and 2.14 to 5.89 mL/min/g (highest). During follow-up, lowest tertile Dip-MBF was associated with sevenfold independent risk of unfavorable outcome compared to the other two tertiles. Dip-MBF 1.35 mL/min/g was identified as the best threshold for outcome prediction. Regional perfusion analysis showed that all cardiac deaths (n = 4) occurred in patients in the lowest tertile of lateral wall Dip-MBF (≤1.72 mL/min/g); septal Dip-MBF was not predictive. Dip-MBF confirms its role as potent predictor of outcome in HCM. However, the threshold for prediction in a contemporary cohort is higher than that reported in earlier studies. Dip-MBF impairment in the lateral wall, possibly reflecting diffuse disease extending to non-hypertrophic regions, is a sensitive predictor of mortality in HCM. (orig.)

  20. Disease Stage-Dependent Changes in Cardiac Contractile Performance and Oxygen Utilization Underlie Reduced Myocardial Efficiency in Human Inherited Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Güçlü, Ahmet; Knaapen, Paul; Harms, Hendrik J; Parbhudayal, Rahana Y; Michels, Michelle; Lammertsma, Adriaan A; van Rossum, Albert C; Germans, Tjeerd; van der Velden, Jolanda

    2017-05-01

    Reduced myocardial efficiency represents a target for therapy in hypertrophic cardiomyopathy although therapeutic benefit may depend on disease stage. Here, we determined disease stage-dependent changes in myocardial efficiency and effects of myectomy surgery. Myocardial external efficiency (MEE) was determined in 27 asymptomatic mutation carriers (genotype positive/phenotype negative), 10 patients with hypertrophic obstructive cardiomyopathy (HOCM), 10 patients with aortic valve stenosis, and 14 healthy individuals using [ 11 C]-acetate positron emission tomography and cardiovascular magnetic resonance imaging. Follow-up measurements were performed in HOCM and aortic valve stenosis patients 4 months after surgery. External work did not differ in HOCM compared with controls, whereas myocardial oxygen consumption was lower in HOCM. Because of a higher cardiac mass, total cardiac oxygen consumption was significantly higher in HOCM than in controls and genotype positive/phenotype negative. MEE was significantly lower in genotype positive/phenotype negative than in controls (28±6% versus 42±6%) and was further decreased in HOCM (22±5%). In contrast to patients with aortic valve stenosis, MEE was not improved in patients with HOCM after surgery, which was explained by opposite changes in the septum (decrease) and lateral (increase) wall. Different mechanisms underlie reduced MEE at the early and advanced stage of hypertrophic cardiomyopathy. The initial increase and subsequent reduction in myocardial oxygen consumption during disease progression indicates that energy deficiency is a primary mutation-related event, whereas mechanisms secondary to disease remodeling underlie low MEE in HOCM. Our data highlight that the benefit of therapies to improve energetic status of the heart may vary depending on the disease stage and that treatment should be initiated before cardiac remodeling. © 2017 American Heart Association, Inc.

  1. {sup 31}P magnetic resonance spectroscopy to measure in vivo cardiac energetics in normal myocardium and hypertrophic cardiomyopathy: Experiences at 3 T

    Energy Technology Data Exchange (ETDEWEB)

    Shivu, Ganesh Nallur [Department of Cardiovascular Medicine, University of Birmingham, Vincent Drive, Edgbaston, Birmingham B15 2TT (United Kingdom)], E-mail: drgani23@gmail.com; Abozguia, Khalid; Phan, Thanh Trung; Ahmed, Ibrar [Department of Cardiovascular Medicine, University of Birmingham, Vincent Drive, Edgbaston, Birmingham B15 2TT (United Kingdom); Henning, Anke [Institute for Biomedical Engineering, University and ETH Zurich, Gloriastrasse 35, CH-8092, Zurich CH ETZ F97 (Switzerland); Frenneaux, Michael [Department of Cardiovascular Medicine, University of Birmingham, Vincent Drive, Edgbaston, Birmingham B15 2TT (United Kingdom)

    2010-02-15

    Background: {sup 31}P magnetic resonance spectroscopy (MRS) allows measurement of in vivo high-energy phosphate kinetics in the myocardium. While traditionally {sup 31}P cardiac spectroscopy is performed at 1.5 T, cardiac MRS at higher field strength can theoretically increase signal to noise ratio (SNR) and spectral resolution therefore improving sensitivity and specificity of the cardiac spectra. The reproducibility and feasibility of performing cardiac spectroscopy at 3 T is presented here in this study in healthy volunteers and patients with hypertrophic cardiomyopathy. Methods: Cardiac spectroscopy was performed using a Phillips 3T Achieva scanner in 37 healthy volunteers and 26 patients with hypertrophic cardiomyopathy (HCM) to test the feasibility of the protocol. To test the reproducibility a single volunteer was scanned eight times on separate occasions. A single voxel {sup 31}P MRS was performed using Image Selected In vivo Spectroscopy (ISIS) volume localization. Results: The mean phosphocreatine/adenosine triphosphate (PCr/ATP) ratio of the eight measurements performed on one individual was 2.11 {+-} 0.25. Bland Altman plots showed a variance of 12% in the measurement of PCr/ATP ratios. The PCr/ATP ratio was significantly reduced in HCM patients compared to controls, 1.42 {+-} 0.51 and 2.11 {+-} 0.57, respectively, P < 0.0001. (All results are expressed as mean {+-} standard deviation). Conclusions: Here we demonstrate that cardiac {sup 31}P MRS at 3 T is a reliable method of measuring in vivo high-energy phosphate kinetics in the myocardium for clinical studies and diagnostics. Based on our data an impairment of cardiac energetic state in patients with hypertrophic cardiomyopathy is indisputable.

  2. Measurement of left ventricular chamber and myocardial volume in hypertrophic cardiomyopathy patients by ECG-gated myocardial perfusion SPECT. Application of a newly developed edge-detection algorithm

    Energy Technology Data Exchange (ETDEWEB)

    Nishimura, Yoshihiro; Katafuchi, Tetsuro; Hirase, Yoshinori; Sagoh, Masayoshi; Oka, Hisashi [National Cardiovascular Center, Suita, Osaka (Japan); Mori, Hideaki [Siemens-Asahi Medical Technologies, Ltd., Tokyo (Japan); Murase, Kenya [Osaka Univ., Suita (Japan). Medical School

    2002-12-01

    Quantitative gated SPECT (QGS) software has been reported to demonstrate inaccurate edge detection in the left ventricular chamber in hypertrophic cardiomyopathy patients. In this study we developed a method to calculate left ventricular volume (LVV) and left myocardial volume (LMV) from gated SPECT data using a newly developed edge-detection algorithm, and we compared it with the QGS method of calculating LVV and LMV in a phantom study. Our method gave more accurate measurements LVV and LMV whereas the QGS method underestimated LMV. Compared with QGS LVV and LMV, our method yielded better results in the phantom study. (author)

  3. Echocardiography and cardiac MRI in mutation-negative hypertrophic cardiomyopathy in an older patient: a case defining the need for ICD.

    Science.gov (United States)

    Rodriguez, Fatima; Degnan, Kathleen O; Seidman, Christine E; Mangion, Judy R

    2014-08-01

    We report the case of a 67-year-old man with hypertrophic cardiomyopathy who presented for a second opinion about implantable cardio-defibrillator (ICD) placement after a witnessed syncopal episode. Despite his older age, being mutation-negative, and having a maximal septal thickness of 2.2 cm on echocardiography, he demonstrated rapid progression of myocardial fibrosis on cardiac MRI, correlating to ventricular tachyarrhythmias and syncope. We review the role of echocardiography and cardiac MRI in optimizing medical care for such patients who may not otherwise meet criteria for an ICD placement or further interventions. © 2014, Wiley Periodicals, Inc.

  4. High Incidence of De Novo and Subclinical Atrial Fibrillation in Patients With Hypertrophic Cardiomyopathy and Cardiac Rhythm Management Device.

    Science.gov (United States)

    Wilke, Iris; Witzel, Katrin; Münch, Julia; Pecha, Simon; Blankenberg, Stephan; Reichenspurner, Hermann; Willems, Stephan; Patten, Monica; Aydin, Ali

    2016-07-01

    Atrial fibrillation (AF) is an important prognostic parameter in patients with hypertrophic cardiomyopathy (HCM). Though cardiac rhythm management (CRM) devices (e.g., ICD, pacemaker or implantable loop recorder) can detect subclinical AF, data describing the incidence of AF are rare. We therefore investigated the incidence and clinical impact of de novo and subclinical AF detected by CRM devices in patients with HCM. In our retrospective single-center study, we included patients with HCM and need for CRM devices. The primary endpoint of the study was the incidence of clinical and subclinical de novo AF. During follow-up, patients were screened for adverse events like stroke, ventricular arrhythmia, heart failure, or death. From 192 HCM patients, 44 patients received a CRM device (38 ICDs, 5 pacemakers, 1 implantable loop recorder). In 14 of these patients (32%), AF had been documented before device implantation. Thirty (68%) patients were free from AF at the time of implantation. During a median follow-up of 595 days (interquartile range, 367-890 days), de novo AF was recorded in 16 of these 30 patients (53%). Fourteen (88%) of the 16 patients with de novo AF were free from any clinical symptoms, so these patients were classified to have subclinical AF. In logistic regression analysis, age was the only significant predictor for an increased risk of AF. AF is common in patients with HCM who need a CRM device. More than 50% of these patients develop de novo AF that was predominantly subclinical in our cohort. © 2016 Wiley Periodicals, Inc.

  5. Divergent effects of adrenaline in human induced pluripotent stem cell-derived cardiomyocytes obtained from hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Chandra Prajapati

    2018-02-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is a common inherited cardiac disease that affects the heart muscle with diverse clinical outcomes. HCM can cause sudden cardiac death (SCD during or immediately after mild to rigorous physical activity in young patients. However, the mechanism causing SCD as a result of exercise remains unknown, but exercise-induced ventricular arrhythmias are thought to be responsible for this fatal consequence. To understand the disease mechanism behind HCM in a better way, we generated patient-specific induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs from HCM patients carrying either the MYBPC3-Gln1061X or TPM1-Asp175Asn mutation. We extensively investigated the effects of low to high concentrations of adrenaline on action potential characteristics, and the occurrence of arrhythmias in the presence of various concentrations of adrenaline and in wash-out condition. We classified and quantified different types of arrhythmias observed in hiPSC-CMs, and found that the occurrence of arrhythmias was dependent on concentrations of adrenaline and positions of mutations in genes causing HCM. In addition, we observed ventricular tachycardia types of arrhythmias in hiPSC-CMs carrying the TPM1-Asp175Asn mutation. We additionally examined the antiarrhythmic potency of bisoprolol in HCM-specific hiPSC-CMs. However, bisoprolol could not reduce the occurrence of arrhythmias during administration or during the wash-out condition of adrenaline in HCM-specific hiPSC-CMs. Our study demonstrates hiPSC-CMs as a promising tool for studying HCM. The experimental design used in this study could be suitable and beneficial for studying other components and drugs related to cardiac disease in general.

  6. MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    James W McNamara

    Full Text Available The "super-relaxed state" (SRX of myosin represents a 'reserve' of motors in the heart. Myosin heads in the SRX are bound to the thick filament and have a very low ATPase rate. Changes in the SRX are likely to modulate cardiac contractility. We previously demonstrated that the SRX is significantly reduced in mouse cardiomyocytes lacking cardiac myosin binding protein-C (cMyBP-C. Here, we report the effect of mutations in the cMyBP-C gene (MYBPC3 using samples from human patients with hypertrophic cardiomyopathy (HCM. Left ventricular (LV samples from 11 HCM patients were obtained following myectomy surgery to relieve LV outflow tract obstruction. HCM samples were genotyped as either MYBPC3 mutation positive (MYBPC3mut or negative (HCMsmn and were compared to eight non-failing donor hearts. Compared to donors, only MYBPC3mut samples display a significantly diminished SRX, characterised by a decrease in both the number of myosin heads in the SRX and the lifetime of ATP turnover. These changes were not observed in HCMsmn samples. There was a positive correlation (p < 0.01 between the expression of cMyBP-C and the proportion of myosin heads in the SRX state, suggesting cMyBP-C modulates and maintains the SRX. Phosphorylation of the myosin regulatory light chain in MYBPC3mut samples was significantly decreased compared to the other groups, suggesting a potential mechanism to compensate for the diminished SRX. We conclude that by altering both contractility and sarcomeric energy requirements, a reduced SRX may be an important disease mechanism in patients with MYBPC3 mutations.

  7. Repair of Mybpc3 mRNA by 5′-trans-splicing in a Mouse Model of Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Giulia Mearini

    2013-01-01

    Full Text Available RNA trans-splicing has been explored as a therapeutic option for a variety of genetic diseases, but not for cardiac genetic disease. Hypertrophic cardiomyopathy (HCM is an autosomal-dominant disease, characterized by left ventricular hypertrophy (LVH and diastolic dysfunction. MYBPC3, encoding cardiac myosin-binding protein C (cMyBP-C is frequently mutated. We evaluated the 5′-trans-splicing strategy in a mouse model of HCM carrying a Mybpc3 mutation. 5′-trans-splicing was induced between two independently transcribed molecules, the mutant endogenous Mypbc3 pre-mRNA and an engineered pre-trans-splicing molecule (PTM carrying a FLAG-tagged wild-type (WT Mybpc3 cDNA sequence. PTMs were packaged into adeno-associated virus (AAV for transduction of cultured cardiac myocytes and the heart in vivo. Full-length repaired Mybpc3 mRNA represented up to 66% of total Mybpc3 transcripts in cardiac myocytes and 0.14% in the heart. Repaired cMyBP-C protein was detected by immunoprecipitation in cells and in vivo and exhibited correct incorporation into the sarcomere in cardiac myocytes. This study provides (i the first evidence of successful 5′-trans-splicing in vivo and (ii proof-of-concept of mRNA repair in the most prevalent cardiac genetic disease. Since current therapeutic options for HCM only alleviate symptoms, these findings open new horizons for causal therapy of the severe forms of the disease.

  8. Left ventricular wall thickness in hypertrophic cardiomyopathy. Comparisons of measurements by magnetic resonance imaging, cineangiography, and echocardiography

    Energy Technology Data Exchange (ETDEWEB)

    Matsuda, Tetsuya; Nagano, Yutaka; Hashimoto, Satoshi; Kawai, Chuichi; Sakurai, Tsunetaro; Osakada, Genta (Kyoto Univ. (Japan). Faculty of Medicine)

    1988-12-01

    To evaluate the usefulness of magnetic resonance imaging (MRI) in measuring regional wall thickness of the left ventricle, 11 patients with hypertrophic cardiomyopathy (HCM) were imaged. The measurements were compared with those obtained by two-dimensional echocardiography (2D-echo) and cineangiography. Regional wall thickness was ascertained at six locations including the base, middle, and apex of the interventricular septum (IVS) and left ventricular posterior wall (LVPW) from the two selected transverse sections. All of these six locations were also measured for the IVS by biventriculography and for the LVPW by left ventriculography with the left anterior oblique view. Only the base was measured for both the IVS and LVPW using 2D-echo because of the difficulty in obtaining good images for the middle and apex of the left ventricle. The measurements by MRI correlated well with those obtained by 2D-echo and cineangiography in the majority of locations. At the base, where the wall thickness was measured by the three methods, the measurements of the IVS correlated well each other (r=0.63 to 0.81). However, a good correlation was obtained only between 2D-echo and MRI for the LVPW (r=0.75). The correlation between MRI and cineangiography was generally good for the IVS at any levels (r=0.76 to 0.87), but not for the LVPW. This was partially due to the narrow range of data for the LVPW as well as the difficulty in determining the epicardial border in left ventriculograms. In conclusion, regional wall thickness can be correctly measured by MRI in any location of the left ventricle even at the apex, where measurement is difficult by other methods. (author).

  9. T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy.

    Science.gov (United States)

    Ho, Carolyn Y; Abbasi, Siddique A; Neilan, Tomas G; Shah, Ravi V; Chen, Yucheng; Heydari, Bobak; Cirino, Allison L; Lakdawala, Neal K; Orav, E John; González, Arantxa; López, Begoña; Díez, Javier; Jerosch-Herold, Michael; Kwong, Raymond Y

    2013-05-01

    Myocardial fibrosis is a hallmark of hypertrophic cardiomyopathy (HCM) and a potential substrate for arrhythmias and heart failure. Sarcomere mutations seem to induce profibrotic changes before left ventricular hypertrophy (LVH) develops. To further evaluate these processes, we used cardiac magnetic resonance with T1 measurements on a genotyped HCM population to quantify myocardial extracellular volume (ECV). Sarcomere mutation carriers with LVH (G+/LVH+, n=37) and without LVH (G+/LVH-, n=29), patients with HCM without mutations (sarcomere-negative HCM, n=11), and healthy controls (n=11) underwent contrast cardiac magnetic resonance, measuring T1 times pre- and postgadolinium infusion. Concurrent echocardiography and serum biomarkers of collagen synthesis, hemodynamic stress, and myocardial injury were also available in a subset. Compared with controls, ECV was increased in patients with overt HCM, as well as G+/LVH- mutation carriers (ECV=0.36±0.01, 0.33±0.01, 0.27±0.01 in G+/LVH+, G+/LVH-, controls, respectively; P≤0.001 for all comparisons). ECV correlated with N-terminal probrain natriuretic peptide levels (r=0.58; P60% of overt patients with HCM but absent from G+/LVH- subjects. Both ECV and late gadolinium enhancement were more extensive in sarcomeric HCM than sarcomere-negative HCM. Myocardial ECV is increased in HCM sarcomere mutation carriers even in the absence of LVH. These data provide additional support that fibrotic remodeling is triggered early in disease pathogenesis. Quantifying ECV may help characterize the development of myocardial fibrosis in HCM and ultimately assist in developing novel disease-modifying therapy, targeting interstitial fibrosis.

  10. Differentiation of light-chain cardiac amyloidosis from hypertrophic cardiomyopathy using myocardial mechanical parameters by velocity vector imaging echocardiography.

    Science.gov (United States)

    Zhang, Lu; Zhou, Xiao; Wang, Jing; Mu, Yang; Liu, Bohan; Lv, Wenqing; Wang, Ye; Liu, Hongwei; Liu, Hongbin; Zhi, Guang

    2017-04-01

    We aimed to evaluate the diagnostic efficacy of layered velocity vector imaging (VVI)-derived left ventricular (LV) mechanical parameters in the differential diagnosis of primary light-chain cardiac amyloidosis (AL-CA) and hypertrophic cardiomyopathy (HCM). We recruited 35 subjects with histologically-diagnosed AL-CA, 35 subjects with HCM, and 30 age-matched healthy controls. We used conventional echocardiography and electrocardiogram to evaluate general heart function and electrophysiology properties. Furthermore, we applied two-dimensional VVI echocardiography to assess the layered mechanical parameters during systole, including endocardial and epicardial longitudinal strain (ENDO and EPI LSsys), circumferential strain (CSsys), radial strain (RSsys), rotation (ROT) and twist (TWI), in different LV walls and levels. Two groups of patients had similarly elevated LV wall thickness and mild diastolic dysfunction, but normal ejection fraction. ENDO LSsys of three circular LV levels and six LV walls was markedly decreased in AL-CA patients, with the most prominent reduction in the basal level. The reduction of ENDO and EPI LSsys in HCM subjects was less profound, and was restricted to certain LV wall and levels. AL-CA patients had significantly reduced RSsys in the LV basal level compared with control or HCM patients. Two groups of patients exhibited similar reduction in layered regional CSsys, ROT and TWI. ROC analysis revealed that the sensitivity and specificity of basal ENDO LSsys for predicting AL-CA was 86 and 89%. Assessment of layered LSsys of LV walls and levels by VVI appeared to provide a more sensitive and specific diagnostic index for the differential diagnosis of AL-CA from HCM than conventional echocardiography. Future studies are warranted to evaluate its diagnostic efficacy for AL-CA diagnosis in the large population.

  11. A Small Molecule Inhibitor of Sarcomere Contractility Acutely Relieves Left Ventricular Outflow Tract Obstruction in Feline Hypertrophic Cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    Joshua A Stern

    Full Text Available Hypertrophic cardiomyopathy (HCM is an inherited disease of the heart muscle characterized by otherwise unexplained thickening of the left ventricle. Left ventricular outflow tract (LVOT obstruction is present in approximately two-thirds of patients and substantially increases the risk of disease complications. Invasive treatment with septal myectomy or alcohol septal ablation can improve symptoms and functional status, but currently available drugs for reducing obstruction have pleiotropic effects and variable therapeutic responses. New medical treatments with more targeted pharmacology are needed, but the lack of preclinical animal models for HCM with LVOT obstruction has limited their development. HCM is a common cause of heart failure in cats, and a subset exhibit systolic anterior motion of the mitral valve leading to LVOT obstruction. MYK-461 is a recently-described, mechanistically novel small molecule that acts at the sarcomere to specifically inhibit contractility that has been proposed as a treatment for HCM. Here, we use MYK-461 to test whether direct reduction in contractility is sufficient to relieve LVOT obstruction in feline HCM. We evaluated mixed-breed cats in a research colony derived from a Maine Coon/mixed-breed founder with naturally-occurring HCM. By echocardiography, we identified five cats that developed systolic anterior motion of the mitral valve and LVOT obstruction both at rest and under anesthesia when provoked with an adrenergic agonist. An IV MYK-461 infusion and echocardiography protocol was developed to serially assess contractility and LVOT gradient at multiple MYK-461 concentrations. Treatment with MYK-461 reduced contractility, eliminated systolic anterior motion of the mitral valve and relieved LVOT pressure gradients in an exposure-dependent manner. Our findings provide proof of principle that acute reduction in contractility with MYK-461 is sufficient to relieve LVOT obstruction. Further, these studies

  12. A novel approach in the use of radiofrequency catheter ablation of septal hypertrophy in hypertrophic obstructive cardiomyopathy.

    Science.gov (United States)

    Shelke, Abhijeet B; Menon, Rajeev; Kapadiya, Anuj; Yalagudri, Sachin; Saggu, Daljeet; Nair, Sandeep; Narasimhan, C

    Alcohol septal ablation (ASA) is a therapeutic alternative to surgical myectomy in patients with hypertrophic obstructive cardiomyopathy (HOCM). However, the anatomical variability of the septal branch, risk of complete heart block, and late onset ventricular arrhythmias are limitations to its therapeutic usage. There is recent interest in the use of radiofrequency catheter ablation (RFCA) as a therapeutic option in HOCM. We aimed to assess the safety and efficacy of RFCA in the treatment of symptomatic HOCM. Seven patients with symptomatic HOCM (mean age 43.7±15.6 years, five males), and significant left ventricular outflow tract (LVOT) gradient despite optimal drug therapy, underwent ablation of the hypertrophied interventricular septum. These patients had unfavorable anatomy for ASA. Ablation was performed under 3D electro-anatomical system guidance using an open irrigated tip catheter. The region of maximal LV septal bulge as seen on intracardiac echocardiography was targeted. Patients were followed up at 1, 6, and 12 months post-procedure. The mean baseline LVOT gradient by Doppler echocardiography was 81±14.8mm of Hg which reduced to 48.5±22.6 (p=0.0004), 49.8±19.3 (p=0.0004), and 42.8±26.1mm of Hg (p=0.05) at 1, 6, and 12 months respectively. Symptoms improved at least by one NYHA class in all but one patient. One patient developed transient pulmonary edema post-RFA. There were no other complications. RFCA of the hypertrophied septum causes sustained reduction in the LVOT gradient and symptomatic improvement among patients with HOCM. Electroanatomical mapping helps to perform the procedure safely. Copyright © 2016 Cardiological Society of India. Published by Elsevier B.V. All rights reserved.

  13. Percutaneous transluminal septal alcoholization for the treatment of refractory hypertrophic obstructive cardiomyopathy: initial experience in the Federal District

    Directory of Open Access Journals (Sweden)

    Evandro César Vidal Osterne

    2003-04-01

    Full Text Available OBJECTIVE: To analyze the efficacy of percutaneous transluminal septal alcoholization in the treatment of refractory obstructive hypertrophic cardiomyopathy (HOC. METHODS: The patients were referred for alcoholization after Doppler echocardiography. Before and after alcoholization, the intraventricular pressure gradient was recorded. Alcoholization was performed with a 3mL injection of absolute alcohol through a coronary angioplasty balloon catheter. The procedure was concluded after a significant reduction or abolition of the pressure gradient. RESULTS: Of 22 patients, 18 (81.8% successfully concluded the procedure with a reduction in intraventricular pressure gradient at baseline (from 67.6±24.2 mmHg to 3.8± 1.9 mmHg, p<0.005 and after extrasystole (from 110.4± 24.2 mmHg to 9.6±2.6 mm Hg, p<0.005. A significant reduction in mean interventricular septal thickness (from 2± 0.3 mm to 1.7±0.2 mm, p<0.005 and in peak pressure gradient (from 90.7±23.5 mmHg to 6.1±1.4 mmHg, p<0.005 was observed on Doppler echocardiography after 6 months, when all patients were in functional class I. The most frequent acute complication, present in 11% of the patients, was the need for definitive pacing implantation. Relapse of the symptoms and reappearance of the pressure gradient occurred in 16.6% of the patients. One patient (5.5% died probably due to a diffuse coronary spasm prior to the procedure, and another died suddenly on late follow-up. CONCLUSION: Percutaneous transluminal septal alcoholization is effective and safe in the treatment of HOC.

  14. Rare Variants in Genes Encoding MuRF1 and MuRF2 Are Modifiers of Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Ming Su

    2014-05-01

    Full Text Available Modifier genes contribute to the diverse clinical manifestations of hypertrophic cardiomyopathy (HCM, but are still largely unknown. Muscle ring finger (MuRF proteins are a class of muscle-specific ubiquitin E3-ligases that appear to modulate cardiac mass and function by regulating the ubiquitin-proteasome system. In this study we screened all the three members of the MuRF family, MuRF1, MuRF2 and MuRF3, in 594 unrelated HCM patients and 307 healthy controls by targeted resequencing. Identified rare variants were confirmed by capillary Sanger sequencing. The prevalence of rare variants in both MuRF1 and MuRF2 in HCM patients was higher than that in control subjects (MuRF1 13/594 (2.2% vs. 1/307 (0.3%, p = 0.04; MuRF2 22/594 (3.7% vs. 2/307 (0.7%; p = 0.007. Patients with rare variants in MuRF1 or MuRF2 were younger (p = 0.04 and had greater maximum left ventricular wall thickness (p = 0.006 than those without such variants. Mutations in genes encoding sarcomere proteins were present in 19 (55.9% of the 34 HCM patients with rare variants in MuRF1 and MuRF2. These data strongly supported that rare variants in MuRF1 and MuRF2 are associated with higher penetrance and more severe clinical manifestations of HCM. The findings suggest that dysregulation of the ubiquitin-proteasome system contributes to the pathogenesis of HCM.

  15. Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes.

    Science.gov (United States)

    Adalsteinsdottir, Berglind; Palsson, Runolfur; Desnick, Robert J; Gardarsdottir, Marianna; Teekakirikul, Polakit; Maron, Martin; Appelbaum, Evan; Neisius, Ulf; Maron, Barry J; Burke, Michael A; Chen, Brenden; Pagant, Silvere; Madsen, Christoffer V; Danielsen, Ragnar; Arngrimsson, Reynir; Feldt-Rasmussen, Ulla; Seidman, Jonathan G; Seidman, Christine E; Gunnarsson, Gunnar Th

    2017-08-01

    The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA (α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B). Familial screening of at-risk relatives identified mutations in 16 family A members (8 men and 8 heterozygotes) and 25 family B members (10 men and 15 heterozygotes). Clinical assessments, α-galactosidase A (α-GalA) activities, glycosphingolipid substrate levels, and in vitro mutation expression were used to categorize p.D322E as a classic FD mutation and p.I232T as a later-onset FD mutation. In vitro expression revealed that p.D322E and p.I232T had α-GalA activities of 1.4% and 14.9% of the mean wild-type activity, respectively. Family A men had markedly decreased α-GalA activity and childhood-onset classic manifestations, except for angiokeratoma and cornea verticillata. Family B men had residual α-GalA activity and developed FD manifestations in adulthood. Despite these differences, all family A and family B men >30 years of age had left ventricular hypertrophy, which was mainly asymmetrical, and had similar late gadolinium enhancement patterns. Ischemic stroke and severe white matter lesions were more frequent among family A men, but neither family A nor family B men had overt renal disease. Family A and family B heterozygotes had less severe or no clinical manifestations. Men with classic or later-onset FD caused by GLA missense mutations developed prominent and similar cardiovascular disease at similar ages, despite markedly different α-GalA activities. © 2017 American Heart Association, Inc.

  16. Reverse redistribution of Tc-99m-tetrofosmin in exercise myocardial SPECT in patients with hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Sugihara, Hiroki; Taniguchi, Yoko; Kinoshita, Noriyuki [Kyoto Prefectural Univ. of Medicine (Japan)] [and others

    1998-10-01

    We examined the usefulness of Tc-99m-tetrofosmin in detecting exercise induced perfusion abnormalities in patients with hypertrophic cardiomyopathy (HCM) and to clarify time-related changes in myocardial distribution of Tc-99m-tetrofosmin after a single injection. We studied 44 consecutive patients with HCM by means of exercise/rest Tc-99m-tetrofosmin single photon emission computed tomography (SPECT). After injecting 370 MBq of Tc-99m-tetrofosmin at the peak exercise, the early SPECT imaging was performed at 30 min (EX-30) and the delayed imaging at 180 min (EX-180). Immediately after the delayed imaging, 740 MBq of Tc-99m-tetrofosmin was injected in the resting state, and the rest SPECT imaging was performed 30 min later. Exercise-induced regional perfusion defects and/or apparent reversible left ventricular cavity dilation were identified in 26 (68.2%) of the 44 patients. When EX-30 images and EX-180 images were compared, reverse redistribution was confirmed in 36 patients (81.8%). Reverse redistribution was detected most frequently in the septal portion of the anterior wall, followed by the septal portion of the posterior wall and the septum. Exercise/rest Tc-99m-tetrofosmin myocardial imaging was a useful method for assessing myocardial perfusion abnormalities in patients with HCM. Reverse redistribution was detected very frequently on early and delayed images of exercise. We assumed that reverse redistribution may reflect a retention disorder of Tc-99m-tetrofosmin caused by some metabolic dysfunction of myocytes. (author)

  17. Effect of Papillary Muscles and Trabeculae on Left Ventricular Measurement Using Cardiovascular Magnetic Resonance Imaging in Patients with Hypertrophic Cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Park, Eun-Ah; Lee, Whal [Department of Radiology, Cardiovascular Division, Seoul National University Hospital, Seoul 110-744 (Korea, Republic of); Kim, Hyung-Kwan [Department of Internal Medicine, Cardiovascular Division, Seoul National University Hospital, Seoul 110-744 (Korea, Republic of); Chung, Jin Wook [Department of Radiology, Cardiovascular Division, Seoul National University Hospital, Seoul 110-744 (Korea, Republic of)

    2015-11-01

    To evaluate the influence of papillary muscles and trabeculae on left ventricular (LV) cardiovascular magnetic resonance (CMR) analysis using three methods of cavity delineation (classic or modified inclusion methods, and the exclusion method) in patients with hypertrophic cardiomyopathy (HCM). This retrospective study included 20 consecutive HCM patients who underwent 1.5-T CMR imaging with short-axis cine stacks of the entire LV. LV measurements were performed using three different methods of manual cavity delineation of the endocardial and epicardial contours: method A, presumed endocardial boundary as seen on short-axis cine images; method B, including solely the cavity and closely adjacent trabeculae; or method C, excluding papillary muscles and trabeculae. Ascending aorta forward flow was measured as reference for LV-stroke volume (SV). Interobserver reproducibility was assessed using intraclass correlation coefficients. Method A showed larger end-diastole and end-systole volumes (largest percentage differences of 25% and 68%, respectively, p < 0.05), compared with method C. The ejection fraction was 55.7 ± 6.9% for method A, 68.6 ± 8.4% for B, and 71.7 ± 7.0% for C (p < 0.001). Mean mass was also significantly different: 164.6 ± 47.4 g for A, 176.5 ± 50.5 g for B, and 199.6 ± 53.2 g for C (p < 0.001). LV-SV error was largest with method B (p < 0.001). No difference in interobserver agreement was observed (p > 0.05). In HCM patients, LV measurements are strikingly different dependent on whether papillary muscles and trabeculae are included or excluded. Therefore, a consistent method of LV cavity delineation may be crucial during longitudinal follow-up to avoid misinterpretation and erroneous clinical decision-making.

  18. Quantification of myocardial delayed enhancement and wall thickness in hypertrophic cardiomyopathy: Multidetector computed tomography versus magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Zhao, Lei [Department of Radiology, Beijing Anzhen Hospital, Capital Medical University, No. 2 Anzhen Rd Beijing (China); Ma, Xiaohai, E-mail: maxi8238@gmail.com [Department of Radiology, Beijing Anzhen Hospital, Capital Medical University, No. 2 Anzhen Rd Beijing (China); Feuchtner, Gudrun Maria [Department of Radiology II, Innsbruck Medical University, Innsbruck (Austria); Zhang, Chen; Fan, Zhanming [Department of Radiology, Beijing Anzhen Hospital, Capital Medical University, No. 2 Anzhen Rd Beijing (China)

    2014-10-15

    Objectives: To evaluate the accuracy of multidetector computed tomography (MDCT) in assessing myocardial delayed enhancement and left ventricle wall thickness in hypertrophic cardiomyopathy (HCM) compared with cardiac magnetic resonance (CMR) as the reference standard. Materials and methods: Eighty consecutive patients (59 male; 53.2 ± 13.0 years) were examined with MDCT, followed by CMR 1 day later. Cardiac CT angiography and a delayed CT were performed. CMR was performed according to a standardized protocol. Left ventricle wall thickness and positions of myocardial delayed enhancement were identified in both CMR and CT images according to the American Heart Association left ventricle 17-segment model. Myocardial delayed enhancement was characterized as “dense” (areas with clear defined borders) or “diffuse” and then quantified using both techniques. Results: Left ventricle wall thickness determined by MDCT was significantly correlated with CMR (R = 0.88, P < 0.01). Compared with CMR, MDCT accurately diagnosed 74 of 78 (94.9%) patients and 1243 of 1326 (93.7%) segments. For dense myocardial delayed enhancement, MDCT significantly correlated with CMR (R = 0.88, P < 0.01) and slightly underestimated myocardial delayed enhancement (mean, −3.85%; lower and upper limits of agreement, −13.40% and 5.70%, respectively). Conclusions: MDCT provides reliable quantification of myocardial delayed enhancement and evaluation of left ventricle wall thickness and has a good correlation with CMR in patients with HCM when a comprehensive cardiac CT protocol is used and can be applied for intervention planning.

  19. CD36 abnormality and impaired myocardial long-chain fatty acid uptake in patients with hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Okamoto, Fumio; Tanaka, Takao; Sohmiya, Koichi; Kawamura, Keishiro [Osaka Medical Coll., Takatsuki (Japan)

    1998-07-01

    In this study, in order to discover the relationship between hypertrophic cardiomyopathy (HCM) and the CD36 molecular abnormality, the expression level of platelet CD36 and CD36 cDNA in 55 HCM patients was analyzed. Twelve patients showed negligible (<5%) CD36 expression on their platelets. Among them, one was found to be homozygous for the C-478{yields}T substitution and 6 were heterozygous for the C-478{yields}T substitution. In 9 patients, CD36 was expressed by less than 50% of the platelets. One of them was found to be heterozygous for the C-478{yields}T substitution. Two other patients were also found to be heterozygous for this point mutation, although their platelets expressed CD36. Thus, 23 out of 55 (41.8%) HCM patients had negligible (<5%) or reduced (<50%) levels of CD36 expression on platelets, or had a point mutation of CD36 cDNA. These 55 HCM patients were also evaluated with myocardial scintigraphy both for long-chain fatty acid (LCFA) uptake and perfusion, which showed a moderate to severe discrepancy between myocardial LCFA accumulation and myocardial perfusion in 95.5% of the patients (21/23). On the other hand, 70% of the patients with normal (>90%) CD36 expression (14/20) did not show any severe discrepancies between myocardial LCFA accumulation and myocardial perfusion. These data could suggest that abnormal myocardial LCFA metabolism seen in HCM patients may be related to abnormality of the CD36 molecule, and that abnormalities of this molecule may be linked to the cause of some types of HCM. (K.H.)

  20. A novel approach to select differential pathways associated with hypertrophic cardiomyopathy based on gene co‑expression analysis.

    Science.gov (United States)

    Chen, Xiao-Min; Feng, Ming-Jun; Shen, Cai-Jie; He, Bin; Du, Xian-Feng; Yu, Yi-Bo; Liu, Jing; Chu, Hui-Min

    2017-07-01

    The present study was designed to develop a novel method for identifying significant pathways associated with human hypertrophic cardiomyopathy (HCM), based on gene co‑expression analysis. The microarray dataset associated with HCM (E‑GEOD‑36961) was obtained from the European Molecular Biology Laboratory‑European Bioinformatics Institute database. Informative pathways were selected based on the Reactome pathway database and screening treatments. An empirical Bayes method was utilized to construct co‑expression networks for informative pathways, and a weight value was assigned to each pathway. Differential pathways were extracted based on weight threshold, which was calculated using a random model. In order to assess whether the co‑expression method was feasible, it was compared with traditional pathway enrichment analysis of differentially expressed genes, which were identified using the significance analysis of microarrays package. A total of 1,074 informative pathways were screened out for subsequent investigations and their weight values were also obtained. According to the threshold of weight value of 0.01057, 447 differential pathways, including folding of actin by chaperonin containing T‑complex protein 1 (CCT)/T‑complex protein 1 ring complex (TRiC), purine ribonucleoside monophosphate biosynthesis and ubiquinol biosynthesis, were obtained. Compared with traditional pathway enrichment analysis, the number of pathways obtained from the co‑expression approach was increased. The results of the present study demonstrated that this method may be useful to predict marker pathways for HCM. The pathways of folding of actin by CCT/TRiC and purine ribonucleoside monophosphate biosynthesis may provide evidence of the underlying molecular mechanisms of HCM, and offer novel therapeutic directions for HCM.

  1. Hypertrophic Cardiomyopathy in Children, Adolescents, and Young Adults Associated With Low Cardiovascular Mortality With Contemporary Management Strategies.

    Science.gov (United States)

    Maron, Barry J; Rowin, Ethan J; Casey, Susan A; Lesser, John R; Garberich, Ross F; McGriff, Deepa M; Maron, Martin S

    2016-01-05

    Youthful age has been considered the time of greatest risk for patients with hypertrophic cardiomyopathy (HCM), largely because of the possibility of sudden death. The last 2 decades have witnessed more reliable identification of at-risk patients and utilization of implantable cardioverter-defibrillators for prevention of sudden death, and other contemporary treatment options. Whether such management advances have significantly altered the considerable mortality rate for young HCM patients remains unresolved. We studied long-term outcome in 474 consecutive HCM patients between 7 and 29 years of age presenting at 2 referral institutions. Over 7.1±5.1 years of follow-up (6.0 [3.0, 10.0]), 452 patients (95%) survived, with 95% experiencing no or mild symptoms. HCM-related death occurred in 18 patients (3%; 0.54%/y): arrhythmic sudden death (n=12), progressive heart failure and heart transplant complications (n=5), or postoperatively (n=1). In contrast, aborted life-threatening events occurred in 63 other high-risk patients (13%) with implantable cardioverter-defibrillator interventions for ventricular tachyarrhythmias (n=31), resuscitated out-of-hospital cardiac arrest (n=20), or heart transplant for advanced heart failure (n=12), 1.8%/y, 3-fold higher than HCM mortality. Five- and 10-year survival (considering only HCM deaths) was high (97% and 94%, respectively), virtually identical to that reported in middle-aged adult HCM patients (98% and 94%, P=0.23). In a large hospital-based cohort of young HCM patients, representing an age group considered at greatest risk, low mortality rates can be achieved with the application of contemporary cardiovascular treatment strategies, largely because of reliable identification of high-risk patients who benefited from implantable cardioverter-defibrillators for sudden death prevention, thereby creating the opportunity for extended longevity and good quality of life. © 2015 American Heart Association, Inc.

  2. Desensitization of myofilaments to Ca2+ as a therapeutic target for hypertrophic cardiomyopathy with mutations in thin filament proteins.

    Science.gov (United States)

    Alves, Marco L; Dias, Fernando A L; Gaffin, Robert D; Simon, Jillian N; Montminy, Eric M; Biesiadecki, Brandon J; Hinken, Aaron C; Warren, Chad M; Utter, Megan S; Davis, Robert T; Sakthivel, Sadayappan; Robbins, Jeffrey; Wieczorek, David F; Solaro, R John; Wolska, Beata M

    2014-04-01

    Hypertrophic cardiomyopathy (HCM) is a common genetic disorder caused mainly by mutations in sarcomeric proteins and is characterized by maladaptive myocardial hypertrophy, diastolic heart failure, increased myofilament Ca(2+) sensitivity, and high susceptibility to sudden death. We tested the following hypothesis: correction of the increased myofilament sensitivity can delay or prevent the development of the HCM phenotype. We used an HCM mouse model with an E180G mutation in α-tropomyosin (Tm180) that demonstrates increased myofilament Ca(2+) sensitivity, severe hypertrophy, and diastolic dysfunction. To test our hypothesis, we reduced myofilament Ca(2+) sensitivity in Tm180 mice by generating a double transgenic mouse line. We crossed Tm180 mice with mice expressing a pseudophosphorylated cardiac troponin I (S23D and S24D; TnI-PP). TnI-PP mice demonstrated a reduced myofilament Ca(2+) sensitivity compared with wild-type mice. The development of pathological hypertrophy did not occur in mice expressing both Tm180 and TnI-PP. Left ventricle performance was improved in double transgenic compared with their Tm180 littermates, which express wild-type cardiac troponin I. Hearts of double transgenic mice demonstrated no changes in expression of phospholamban and sarcoplasmic reticulum Ca(2+) ATPase, increased levels of phospholamban and troponin T phosphorylation, and reduced phosphorylation of TnI compared with Tm180 mice. Moreover, expression of TnI-PP in Tm180 hearts inhibited modifications in the activity of extracellular signal-regulated kinase and zinc finger-containing transcription factor GATA in Tm180 hearts. Our data strongly indicate that reduction of myofilament sensitivity to Ca(2+) and associated correction of abnormal relaxation can delay or prevent development of HCM and should be considered as a therapeutic target for HCM.

  3. Focalized contractile impairment at hypertrophied myocardium proven in consideration of wall stress in patients with hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Yamazaki, Tadashi; Suzuki, Jun-ichi; Shimamoto, Ryoichi; Tsuji, Taeko; Ohmoto, Yuki; Toyo-oka, Teruhiko; Omata, Masao; Ohtomo, Kuni; Nagai, Ryozo

    2006-01-01

    In hypertrophic cardiomyopathy (HCM) a hyperkinetic state is sometimes observed in spite of impaired systolic function in the hypertrophied myocardium. The aim of the present study was to determine the mechanism of this paradox. Seventeen patients with HCM and 10 normal subjects underwent cine magnetic resonance (MR) imaging to measure percent systolic wall thickening and percent fractional shortening. The ratio of systolic radial wall stress of the LV at the hypertrophied myocardium over that at the nonhypertrophied myocardium was evaluated to describe the focal advantageous condition for wall thickening. The ratio was 0.66±0.36 at the start of contraction and 0.78±0.31 at early-systole, indicating consistently smaller radial wall stress at the hypertrophied myocardium. Although the condition for contraction was favorable (a ratio less than 1.00), percent systolic wall thickening at the hypertrophied myocardium (23.0±11.8%) was smaller than that at the nonhypertrophied myocardium (70.5±32.3%). Smaller end-diastolic dimension (HCM group; 45.2±4.2 mm, reference group; 48.9±4.1 mm, P=0.04) with a statistically identical value of systolic decrease in intraventricular dimension (HCM group; 19.7±3.9 mm, reference group; 18.9±3.2 mm, P=0.60) yielded high percent fractional shortening in patients with HCM (43.5±7.6%). Although contractile impairment was proven at the hypertrophied region with low radial wall stress in the HCM group, the smaller end-diastolic dimension in this group resulted in high percent fractional shortening. (author)

  4. Successful MACE risk stratification in hypertrophic cardiomyopathy patients using different 2D speckle-tracking TTE approaches.

    Science.gov (United States)

    Ozawa, Koya; Funabashi, Nobusada; Takaoka, Hiroyuki; Kobayashi, Yoshio

    2017-02-01

    We performed 2D speckle tracking transthoracic-echocardiography (TTE) to compare the ability to predict occurrence of major adverse cardiac events (MACE) between global longitudinal strain (GLS) and circumferential strain (GCS) in left ventricular (LV) myocardium in hypertrophic cardiomyopathy (HCM) patients without obstructed coronary arteries. We measured 2D LV GLS and GCS retrospectively by TTE within 13months of performance of cardiac CT in 41 consecutive symptomatic HCM patients (27 males; 60±13years) without obstructed coronary arteries on CT. Patients were followed up for a median period of 30months. MACE occurred in 7 (17%) patients. The Cox proportional hazard model for univariate analysis revealed that 2D LV GLS (hazard ratio (HR) 1.89, P=0.019) was a significant predictor of MACE but GCS (HR 1.07, P=0.118) was not. The Cox model for multivariate analysis revealed that 2D LV GLS (hazard ratio 2.144, P=0.013) was a significant predictor for MACE. In receiver operating characteristic (ROC) curves at a best cut-off of -9.65% (2D LV GLS) and -29.35% (2D LV GCS), the sensitivity and specificity for MACE occurrence were 100% and 64.7% (2D LV GLS) and 100% and 47.1% (2D LV GCS), respectively. Kaplan Meier analysis revealed significant differences in MACE occurrence during the follow-up period between ≦-9.65 and >9.65% of 2D LV GLS (P=0.004) and ≦-29.35 and >-29.35% of 2D LV GCS (P=0.017). Both 2D LV GLS and GCS (2D LV GLS>GCS) on TTE can predict poor prognosis in HCM patients without obstructed coronary arteries. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  5. Differential diagnosis at admission between Takotsubo cardiomyopathy and acute apical-anterior myocardial infarction in postmenopausal women.

    Science.gov (United States)

    Zorzi, Alessandro; Baritussio, Anna; ElMaghawry, Mohamed; Siciliano, Mariachiara; Migliore, Federico; Perazzolo Marra, Martina; Iliceto, Sabino; Corrado, Domenico

    2016-08-01

    Takotsubo cardiomyopathy (TTC) typically affects postmenopausal women and clinically presents with chest pain, ST-segment elevation, elevated cardiac enzymes and apical left ventricular (LV) wall motion abnormalities that mimic 'apical-anterior' acute myocardial infarction (AMI). This study assessed whether at-admission clinical evaluation helps in differential diagnosis between the two conditions. The study compared at-admission clinical, electrocardiographic (ECG) and echocardiographic findings of 31 women (median age 67 years, interquartile range (IQR) 62-76) with typical TTC and 30 women (median age 73 years, IQR 61-81) with apical-anterior AMI due to acute occlusion of the mid/distal left anterior descending coronary artery. Women with TTC significantly more often showed PR-segment depression (62% versus 3%, p<0.001), J-waves (26% versus 3%, p=0.03), maximum ST-segment elevation ⩽2 mm (84% versus 37%, p<0.001) and ST-segment elevation in lead II (42% versus 10%, p=0.01) than those with AMI. At multivariate analysis, PR-segment depression (odds ratio (OR)=37.2, 95% confidence interval (CI)=3.4-424, p=0.002) and maximum ST-segment elevation ⩽2 mm (OR=11.1, 95% CI=1.7-99.4, p=0.01) remained the only independent predictors of TTC and the co-existence of both parameters excluded AMI with a 100% specificity. The two groups did not differ with regard to age, first troponin-I value, echocardiographic LV ejection fraction and distribution of hypo/akinetic LV segments. At-admission electrocardiogram (but no clinical, laboratory and echocardiographic features) allows differential diagnosis between TTC and apical-anterior AMI in postmenopausal women. The combination of PR-segment depression and mild (⩽2 mm) ST-segment elevation predicted TTC with greater accuracy than traditional parameters such as localisation of ST-segment elevation and reciprocal ST-segment depression. © The European Society of Cardiology 2015.

  6. Measurement of myocardial uptake rate and method of dual energy data acquisition in myocardial scintigraphy with sup 123 I-metaiodobenzylguanidine and sup 201 Tl-chloride, 2; Clinical studies in hypertrophic cardiomyopathy and hypertensive cardiomegaly

    Energy Technology Data Exchange (ETDEWEB)

    Higashino, Hiroshi (Ehime Univ., Shigenobu (Japan). School of Medicine)

    1991-06-01

    Myocardial scintigraphy was performed on 24 patients with hypertrophic cardiomyopathy (HCM), 5 with essential hypertension (EHT) and 7 normal controls at rest by means of simultaneous dual energy data acquisition following an intravenous injection of {sup 123}I-metaiodobenzylguanidine (MIGB) and {sup 201}Tl-chloride (Tl). The myocardial uptake rates of both tracers were measured in the planar images by taking into account the myocardial and pulmonary attenuation. The regional myocardial distributions of the tracers were also studied in the SPECT images. In planar images, the rate of loss of {sup 123}I-MIBG from the myocardium of HCM subjects was significantly higher than of control subjects 15 min to 3 hr after injection. No significant difference was observed from 3 hr to 5 hr and from the 5 hr to 21 hr periods. In the SPECT images, the rate of loss of {sup 123}I-MIBG from the myocardium of HCM subjects was significantly higher than of control subjects in all segments of myocardium through a 15 min to 5 hr observation period. The results suggested that the uptake-release mechanism of {sup 123}I-MIBG in the neuronal vesicles was impaired in HCM subjects in two different ways: (1) normal release in delayed phase associated with low uptake in early phase or (2) accelerated release in early phase. Moreover, the sympathetic dysfunction may spread through the all segments of myocardium of HCM subjects. The apical lesion showed an extremely high rate of loss up to 5 hr after injection in SPECT images. This was quite different from that of the septal lesion. This indicated that the apical lesion of HCM subjects may have a different sympathetic abnormality. In EHT subjects, no abnormal regional distribution of {sup 123}I-MIBG was observed. This suggested that the sympathetic innervation was maintained although an abnormal distribution of blood flow was frequently observed in {sup 201}Tl scintigraphy. (author).

  7. Two-dimensional strain analysis of the global and regional myocardial function for the differentiation of pathologic and physiologic left ventricular hypertrophy: a study in athletes and in patients with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Butz, T; van Buuren, F; Mellwig, K P; Langer, C; Plehn, G; Meissner, A; Trappe, H J; Horstkotte, D; Faber, L

    2011-01-01

    Two-dimensional strain (2DS) is a novel method to measure strain from standard two-dimensional echocardiographic images by speckle tracking, which is less angle dependent and more reproducible than conventional Doppler-derived strain. The objective of our study was to characterize global and regional function abnormalities using 2DS and strain rate analysis in patients (pts) with pathological left ventricular hypertrophy (LVH) caused by non-obstructive hypertrophic cardiomyopathy (HCM), in top level athletes, and in healthy controls. The hypothetical question was, if 2DS might be useful as additional tool in differentiating between pathologic and physiologic hypertrophy in top-level athletes. We consecutively studied 53 subjects, 15 pts with hypertrophic cardiomyopathy (HCM), 20 competitive top-level athletes, and a control group of 18 sedentary normal subjects by standard echocardiography according to ASE guidelines. Global longitudinal strain (GLS) and regional peak systolic strain (PSS) was assessed by 2DS in the apical four-chamber-view using a dedicated software. All components of strain were significantly reduced in pts with HCM (GLS: -8.1 ± 3.8%; P < 0.001) when compared with athletes (-15.2 ± 3.6%) and control subjects (-16.0 ± 2.8%). In general, there was no significant difference between the strain values of the athletes and the control group, but in some of the segments, the strain values of the control group were significantly higher than those in the athletes. A cut-off value of GLS less than -10% for the diagnosis of pathologic hypertrophy (HCM) resulted in a sensitivity of 80.0% and a specificity of 95.0%. The combination of TDI (averaged S', E') and 2DS (GLS) cut-off values for the detection of pathologic LVH in HCM demonstrated a sensitivity of 100%, and a specificity of 95%. Two-dimensional strain is a new simple and rapid method to measure GLS and PSS as components of systolic strain. This technique could offer a unique approach to quantify

  8. Obstructive Form of Hypertrophic Cardiomyopathy-Left Ventricular Outflow Tract Gradient: Novel Methods of Provocation, Monitoring of Biomarkers, and Recent Advances in the Treatment

    Directory of Open Access Journals (Sweden)

    Pawel Petkow Dimitrow

    2016-01-01

    Full Text Available Dynamic (latent or/and labile obstruction of left ventricular outflow (LVOT was recognized from the earliest clinical descriptions of hypertrophic cardiomyopathy (HCM and has proved to be a complex phenomenon, as well as arguably the most audible (“visible” pathophysiological hallmark of this heterogeneous disease. The aim of the current review is focused on two novel issues in a subgroup of obstructive HCM. Firstly, the important methodological problem in HCM is the examination of a subgroup of patients with nonobstructive hypertrophy in resting conditions and hard, but possible provoking obstruction. Recently, investigators have proposed physiological stress test (with double combined stimuli to disclose such type of patients. The upright exercise is described in the ESC guideline on hypertrophic cardiomyopathy from 2014 and may appear as a candidate for gold standard provocation test. The second novel area of interest is associated with elevated level of signaling biomarkers: hypercoagulation, hemolysis, acquired von Willebrand 2A disease, and enhanced oxidative stress. The accelerated and turbulent flow within narrow LVOT may be responsible for these biochemical disturbances. The most recent advances in the treatment of obstructive HCM are related to nonpharmacological methods of LVOT gradient reduction. This report extensively discusses novel methods.

  9. Decreased interactions of mutant muscle LIM protein (MLP) with N-RAP and alpha-actinin and their implication for hypertrophic cardiomyopathy.

    Science.gov (United States)

    Gehmlich, Katja; Geier, Christian; Osterziel, Karl Josef; Van der Ven, Peter F M; Fürst, Dieter O

    2004-08-01

    Previous work has shown that mutations in muscle LIM protein (MLP) can cause hypertrophic cardiomyopathy (HCM). In order to gain an insight into the molecular basis of the disease phenotype, we analysed the binding characteristics of wild-type MLP and of the (C58G) mutant MLP that causes hypertrophic cardiomyopathy. We show that MLP can form a ternary complex with two of its previously documented myofibrillar ligand proteins, N-RAP and alpha-actinin, which indicates the presence of distinct, non-overlapping binding sites. Our data also show that, in comparison to wild-type MLP, the capacity of the mutated MLP protein to bind both N-RAP and alpha-actinin is significantly decreased. In addition, this single point mutation prevents zinc coordination and proper folding of the second zinc-finger in the first LIM domain, which consequently renders the protein less stable and more susceptible to proteolysis. The molecular basis for HCM-causing mutations in the MLP gene might therefore be an alteration in the equilibrium of interactions of the ternary complex MLP-N-RAP-alpha-actinin. This assumption is supported by the previous observation that in the pathological situation accompanied by MLP down regulation, cardiomyocytes try to compensate for the decreased stability of MLP protein by increasing the expression of its ligand N-RAP, which might finally result in the development of myocyte disarray that is characteristic of this disease. Copyright 2004 Springer-Verlag

  10. Early marker of regional left ventricular deformation in patients with hypertrophic cardiomyopathy evaluated by MRI tissue tracking: The effects of myocardial hypertrophy and fibrosis.

    Science.gov (United States)

    Xu, Hua-Yan; Chen, Jing; Yang, Zhi-Gang; Li, Rui; Shi, Ke; Zhang, Qin; Liu, Xi; Xie, Lin-Jun; Jiang, Li; Guo, Ying-Kun

    2017-11-01

    To evaluate the regional left ventricular (LV) myocardial strain of early stage hypertrophic cardiomyopathy (HCM) patients by magnetic resonance (MR) tissue tracking. In all, 114 adult HCM patients classified as NYHA I or II and 32 healthy volunteers were enrolled and underwent 3.0T MR examination. Vertical 2-chamber long axis, horizontal 4-chamber, and short axis cine sequence as well as late gadolinium enhancement images (LGE) were scanned. The cardiac function, regional LV tissue tracking variables, end-diastolic wall thickness (EDTH), and LGE extent were measured. In the HCM group, 38 were NYHA I and 76 were NYHA II. By regional analysis, peak strain (PS) and peak displacement (PD) with radial, circumferential direction of hypertrophic segments (n = 283) were significantly lower than nonhypertrophic segments (n = 1541) (all P hypertrophic and fibrotic segments of early-stage HCM patients can be measured by MR tissue tracking based on routine cine images. Moreover, myocardial strain may decrease with the increasing of myocardial hypertrophy as well as fibrosis. 2 Technical Efficacy: Stage 3 J. Magn. Reson. Imaging 2017;46:1368-1376. © 2017 International Society for Magnetic Resonance in Medicine.

  11. Right ventricular hypertrophy is associated with cardiovascular events in hypertrophic cardiomyopathy: evidence from study with magnetic resonance imaging.

    Science.gov (United States)

    Nagata, Yoji; Konno, Tetsuo; Fujino, Noboru; Hodatsu, Akihiko; Nomura, Akihiro; Hayashi, Kenshi; Nakamura, Hiroyuki; Kawashiri, Masa-Aki; Yamagishi, Masakazu

    2015-06-01

    Although left ventricular (LV) morphology and function have been well studied in hypertrophic cardiomyopathy (HCM), few data exist regarding the right ventricle. Accordingly, we studied right ventricular (RV) morphology and function and their effect on cardiovascular events in HCM using cardiac magnetic resonance (CMR) imaging. This retrospective study included 106 HCM patients (age 61.6 ± 14.5 years) examined using CMR imaging during January 2008 to September 2014. RV hypertrophy (RVH) was defined as RV maximal wall thickness > 5 mm. RVH was observed in 30 of the 106 patients (RVH group), with the remaining 76 patients assigned to the non-RVH group. The RVH group had higher brain natriuretic peptide levels (461.6 ± 699.8 pg/mL vs. 225.3 ± 254.5 pg/mL; P = 0.01) and also showed a reduced RV end-diastolic volume index (43.4 ± 16.0 mL/m2 vs. 56.6±15.2 mL/m2; P = 0.0001), in keeping with a greater LV mass index (109.1 ± 24.9 g/m2 vs. 78.6 ± 23.0 g/m2; P < 0.0001). The RVH group was prominently associated with RV late gadolinium enhancement compared with the non-RVH group (33.3% vs. 0%; P < 0.0001). After CMR imaging, 15 patients developed cardiovascular events that included admission for heart failure, ventricular tachyarrhythmia/fibrillation, stroke, and sudden cardiac death. Cox proportional hazard analysis revealed that RVH was an independent predictor of the occurrence of cardiovascular events after adjustments by sex, age, LV mass index, LV ejection fraction, and LV outflow tract obstruction (hazard ratio, 5.42; 95% confidence interval, 1.16-25.3; P = 0.03). These results suggest that HCM patients with RVH on CMR images have a greater incidence of cardiovascular events than non-RVH patients. Further work is needed to confirm this observation and assess its clinical importance. Copyright © 2015 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  12. Tissue Doppler Imaging Combined with Advanced 12-Lead ECG Analysis Might Improve Early Diagnosis of Hypertrophic Cardiomyopathy in Childhood

    Science.gov (United States)

    Femlund, E.; Schlegel, T.; Liuba, P.

    2011-01-01

    Optimization of early diagnosis of childhood hypertrophic cardiomyopathy (HCM) is essential in lowering the risk of HCM complications. Standard echocardiography (ECHO) has shown to be less sensitive in this regard. In this study, we sought to assess whether spatial QRS-T angle deviation, which has shown to predict HCM in adults with high sensitivity, and myocardial Tissue Doppler Imaging (TDI) could be additional tools in early diagnosis of HCM in childhood. Methods: Children and adolescents with familial HCM (n=10, median age 16, range 5-27 years), and without obvious hypertrophy but with heredity for HCM (n=12, median age 16, range 4-25 years, HCM or sudden death with autopsy-verified HCM in greater than or equal to 1 first-degree relative, HCM-risk) were additionally investigated with TDI and advanced 12-lead ECG analysis using Cardiax(Registered trademark) (IMED Co Ltd, Budapest, Hungary and Houston). Spatial QRS-T angle (SA) was derived from Kors regression-related transformation. Healthy age-matched controls (n=21) were also studied. All participants underwent thorough clinical examination. Results: Spatial QRS-T angle (Figure/ Panel A) and septal E/Ea ratio (Figure/Panel B) were most increased in HCM group as compared to the HCM-risk and control groups (p less than 0.05). Of note, these 2 variables showed a trend toward higher levels in HCM-risk group than in control group (p=0.05 for E/Ea and 0.06 for QRS/T by ANOVA). In a logistic regression model, increased SA and septal E/Ea ratio appeared to significantly predict both the disease (Chi-square in HCM group: 9 and 5, respectively, p less than 0.05 for both) and the risk for HCM (Chi-square in HCM-risk group: 5 and 4 respectively, p less than 0.05 for both), with further increased predictability level when these 2 variables were combined (Chi-square 10 in HCM group, and 7 in HCM-risk group, p less than 0.01 for both). Conclusions: In this small material, Tissue Doppler Imaging and spatial mean QRS-T angle

  13. Myocardial bridging does not predict sudden death in children with hypertrophic cardiomyopathy but is associated with more severe cardiac disease.

    Science.gov (United States)

    Mohiddin, S A; Begley, D; Shih, J; Fananapazir, L

    2000-12-01

    We sought to examine the association between systolic compression of sections of epicardial coronary vessels (myocardial bridging) with myocardial perfusion abnormalities and clinical outcome in children with hypertrophic cardiomyopathy (HCM). It has recently been suggested that myocardial bridging is an important cause of myocardial ischemia and sudden death in children with HCM. Angiograms from 57 children with HCM were reviewed for the presence of bridging (50% or more maximum systolic arterial compression). QT interval indices, echocardiographic and cardiac catheterization findings, treadmill exercise tests, exercise thallium scintigraphy, Holter monitoring and electrophysiologic study findings were compared in children with and without bridging. The findings were also related to the presence or absence of compression of septal branches of the left anterior descending artery (LAD). Bridging was present in 23 (40%) of the children. Multiple coronary arteries were involved in four children. Bridging involved the LAD in 16 of 28 (57%) affected vessels. Myocardial perfusion abnormalities were present in 14 of 30 (47%) children without bridging and in 17 of 22 (94%) children with bridging, p = 0.002. However, bridging was associated with more severe septal hypertrophy (19+/-8 mm vs. 28+/-8 mm, p children and was significantly associated with bridging, severity of LV hypertrophy and outflow obstruction. Multivariate analysis demonstrated that LV septal thickness and septal branch compression, and not bridging, were independent predictors of thallium perfusion abnormalities. There was a 90% power at 5% significance to detect an effect of bridging on thallium abnormalities at an odds ratio of 3. Bridging was also not associated with significantly greater symptoms, increased QT and QTc intervals and QTc dispersion, ventricular tachycardia on Holter or induced at EP study, or a worse prognosis. Bridging and compression of septal branches of the LAD are common in HCM

  14. Hypertrophic Cardiomyopathy in Adulthood Associated With Low Cardiovascular Mortality With Contemporary Management Strategies.

    Science.gov (United States)

    Maron, Barry J; Rowin, Ethan J; Casey, Susan A; Link, Mark S; Lesser, John R; Chan, Raymond H M; Garberich, Ross F; Udelson, James E; Maron, Martin S

    2015-05-12

    Hypertrophic cardiomyopathy (HCM) has been prominently associated with adverse disease complications, including sudden death or heart failure death and a generally adverse prognosis, with annual mortality rates of up to 6%. This study determined whether recent advances in management strategy, including implantable cardioverter-defibrillators (ICDs), heart transplantation, or other therapeutic measures have significantly improved survival and the clinical course of adult HCM patients. We addressed long-term outcomes in 1,000 consecutive adult HCM patients presenting at 30 to 59 years of age (mean 45±8 years) over 7.2±5.2 years of follow-up. Of 1,000 patients, 918 (92%) survived to 53±9.2 years of age (range 32 to 80 years) with 91% experiencing no or only mild symptoms at last evaluation. HCM-related death occurred in 40 patients (4% [0.53%/year]) at 50±10 years from the following events: progressive heart failure (n=17); arrhythmic sudden death (SD) (n=17); and embolic stroke (n=2). In contrast, 56 other high-risk patients (5.6%) survived life-threatening events, most commonly with ICD interventions for ventricular tachyarrhythmias (n=33) or heart transplantation for advanced heart failure (n=18 [0.79%/year]). SD occurred in patients who declined ICD recommendations, had evaluations before application of prophylactic ICDs to HCM, or were without conventional risk factors. The 5- and 10-year survival rates (confined to HCM deaths) were 98% and 94%, respectively, not different from the expected all-cause mortality in the general U.S. population (p=0.25). Multivariate independent predictors of adverse outcome were younger age at diagnosis, female sex, and increased left atrial dimension. In a large longitudinally assessed adult HCM cohort, we have demonstrated that contemporary management strategies and treatment interventions, including ICDs for SD prevention, have significantly altered the clinical course, now resulting in a low disease-related mortality rate of

  15. Prevalence of migraine and Raynaud phenomenon in women with apical ballooning syndrome (Takotsubo or stress cardio