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Sample records for cardiomyopathy revealing hspb7

  1. Downregulation of the tumor suppressor HSPB7, involved in the p53 pathway, in renal cell carcinoma by hypermethylation

    OpenAIRE

    2014-01-01

    In order to identify genes involved in renal carcinogenesis, we analyzed the expression profile of renal cell carcinomas (RCCs) using microarrays consisting of 27,648 cDNA or ESTs, and found a small heat shock protein, HSPB7, to be significantly and commonly downregulated in RCC. Subsequent quantitative PCR (qPCR) and immunohistochemical (IHC) analyses confirmed the downregulation of HSPB7 in RCC tissues and cancer cell lines in both transcriptional and protein levels. Bisulfite sequencing of...

  2. Global phosphoproteomic profiling reveals perturbed signaling in a mouse model of dilated cardiomyopathy

    Science.gov (United States)

    Kuzmanov, Uros; Guo, Hongbo; Buchsbaum, Diana; Cosme, Jake; Abbasi, Cynthia; Isserlin, Ruth; Sharma, Parveen; Gramolini, Anthony O.; Emili, Andrew

    2016-01-01

    Phospholamban (PLN) plays a central role in Ca2+ homeostasis in cardiac myocytes through regulation of the sarco(endo)plasmic reticulum Ca2+-ATPase 2A (SERCA2A) Ca2+ pump. An inherited mutation converting arginine residue 9 in PLN to cysteine (R9C) results in dilated cardiomyopathy (DCM) in humans and transgenic mice, but the downstream signaling defects leading to decompensation and heart failure are poorly understood. Here we used precision mass spectrometry to study the global phosphorylation dynamics of 1,887 cardiac phosphoproteins in early affected heart tissue in a transgenic R9C mouse model of DCM compared with wild-type littermates. Dysregulated phosphorylation sites were quantified after affinity capture and identification of 3,908 phosphopeptides from fractionated whole-heart homogenates. Global statistical enrichment analysis of the differential phosphoprotein patterns revealed selective perturbation of signaling pathways regulating cardiovascular activity in early stages of DCM. Strikingly, dysregulated signaling through the Notch-1 receptor, recently linked to cardiomyogenesis and embryonic cardiac stem cell development and differentiation but never directly implicated in DCM before, was a prominently perturbed pathway. We verified alterations in Notch-1 downstream components in early symptomatic R9C transgenic mouse cardiomyocytes compared with wild type by immunoblot analysis and confocal immunofluorescence microscopy. These data reveal unexpected connections between stress-regulated cell signaling networks, specific protein kinases, and downstream effectors essential for proper cardiac function. PMID:27742792

  3. Cirrhotic cardiomyopathy

    DEFF Research Database (Denmark)

    Wiese, Signe; Hove, Jens Dahlgaard; Bendtsen, Flemming;

    2014-01-01

    causes of cardiac disease. This condition is primarily revealed by inducing physical or pharmacological stress, but echocardiography is excellent at revealing diastolic dysfunction and might also be used to detect systolic dysfunction at rest. Furthermore, measurement of circulating levels of cardiac...... in relation to invasive procedures such as shunt insertion and liver transplantation. Current pharmacological treatment is nonspecific and directed towards left ventricular failure, and liver transplantation is currently the only proven treatment with specific effect on cirrhotic cardiomyopathy....

  4. Cirrhotic cardiomyopathy

    DEFF Research Database (Denmark)

    Møller, Søren; Henriksen, Jens H

    2010-01-01

    , nitric oxide overproduction, and cannabinoid receptor activation. Systolic incompetence in patients can be revealed by pharmacological or physical strain and during stressful procedures, such as transjugular intrahepatic portosystemic shunt insertion and liver transplantation. Systolic dysfunction has...... and electrophysiological abnormalities. This syndrome is termed cirrhotic cardiomyopathy. Results of experimental studies indicate the involvement of several mechanisms in the pathophysiology, such as reduced beta-adrenergic receptor signal transduction, altered transmembrane currents and electromechanical coupling...

  5. 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

  6. Proteomic analysis reveals significant elevation of heat shock protein 70 in patients with chronic heart failure due to arrhythmogenic right ventricular cardiomyopathy.

    Science.gov (United States)

    Wei, Ying-Jie; Huang, Yin-Xia; Shen, Ya; Cui, Chuan-Jue; Zhang, Xiao-Ling; Zhang, Hao; Hu, Sheng-Shou

    2009-12-01

    As proteins are the ultimate biological determinants of phenotype of disease, we screened altered proteins associated with heart failure due to arrhythmogenic right ventricular cardiomyopathy (ARVC) to identify biomarkers potential for rapid diagnosis of heart failure. By 2-dimensional gel electrophoresis and mass spectrometry, we identified five commonly altered proteins with more than 1.5 fold changes in eight ARVC failing hearts using eight non-failing hearts as reference. Noticeably, one of the altered proteins, heat shock protein 70 (HSP70), was increased by 1.64 fold in ARVC failing hearts compared with non-failing hearts. The increase of cardiac HSP70 was further validated by Western blot, immunochemistry, and enzyme-linked immunosorbent assay (ELISA) in failing hearts due to not only ARVC, but also dilated (DCM, n = 18) and ischemic cardiomyopathy (ICM, n = 8). Serum HSP70 was also observed to be significantly increased in heart failure patients derived from the three forms of cardiomyopathies. In addition, we observed hypoxia/serum depletion stimulation induced significantly elevation of intracellular and extracellular HSP70 in cultured neonatal rat cardiomyocytes. For the first time to our knowledge, we revealed and clearly demonstrated significant up-regulation of cardiac and serum HSP70 in ARVC heart failure patients. Our results indicate that elevated HSP70 is the common feature of heart failure due to ARVC, DCM, and ICM, which suggests that HSP70 may be used as a biomarker for the presence of heart failure due to cardiomyopathies of different etiologies and may hold diagnostic/prognostic potential in clinical practice.

  7. Biventricular Takotsubo Cardiomyopathy

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    Daoko, Joseph; Rajachandran, Manu; Savarese, Ronald; Orme, Joseph

    2013-01-01

    Biventricular takotsubo cardiomyopathy is associated with more hemodynamic instability than is isolated left ventricular takotsubo cardiomyopathy; medical management is more invasive and the course of hospitalization is longer. In March 2011, a 62-year-old woman presented at our emergency department with abdominal pain, nausea, and vomiting. On hospital day 2, she experienced chest pain. An electrocardiogram and cardiac enzyme levels suggested an acute myocardial infarction. She underwent cardiac angiography and was found to have severe left ventricular systolic dysfunction involving the mid and apical segments, which resulted in a left ventricular ejection fraction of 0.10 to 0.15 in the absence of obstructive coronary artery disease. Her hospital course was complicated by cardiogenic shock that required hemodynamic support with an intra-aortic balloon pump and dobutamine. A transthoracic echocardiogram revealed akinesis of the mid-to-distal segments of the left ventricle and mid-to-apical dyskinesis of the right ventricular free wall characteristic of biventricular takotsubo cardiomyopathy. After several days of medical management, the patient was discharged from the hospital in stable condition. To the best of our knowledge, this is the first review of the literature on biventricular takotsubo cardiomyopathy that compares its hemodynamic instability and medical management requirements with those of isolated left ventricular takotsubo cardiomyopathy. Herein, we discuss the case of our patient, review the pertinent medical literature, and convey the prevalence and importance of right ventricular involvement in patients with takotsubo cardiomyopathy. PMID:23914028

  8. Takotsubo cardiomyopathy (Broken heart syndrome).

    Science.gov (United States)

    Javed, Aqib; Chitkara, Kamal; Mahmood, Arslan; Kainat, Aleesha

    2015-11-01

    Takotsubo cardiomyopathy is an acute reversible cardiomyopathy characterised by transient regional left ventricular (LV) motion abnormalities. It is diagnosed on a coronary angiography and left ventriculography. We report the case of a 50-year-old lady who presented with sudden onset of chest pain, with no history of cardiac disease and no risk factors. Remarkably though, she had lost her husband the previous night. Coronary and LV angiography was done which revealed findings typical of takotsubo cardiomyopathy. We report this case for its rarity. Informed consent was taken from the patient before undertaking and reporting this study.

  9. [Peripartum cardiomyopathy].

    Science.gov (United States)

    Mouquet, Frédéric; Bouabdallaoui, Nadia

    2015-01-01

    The peripartum cardiomyopathy is a rare form of dilated cardiomyopathy resulting from alteration of angiogenesis toward the end of pregnancy. The diagnosis is based on the association of clinical heart failure and systolic dysfunction assessed by echocardiography or magnetic resonance imaging. Diagnoses to rule out are myocardial infarction, amniotic liquid embolism, myocarditis, inherited cardiomyopathy, and history of treatment by anthracycline. Risk factors are advance maternal age (>30), multiparity, twin pregnancy, African origin, obesity, preeclampsia, gestational hypertension, and prolonged tocolytic therapy. Treatment of acute phase is identical to usual treatment of acute systolic heart failure. After delivery, VKA treatment should be discussed in case of systolic function <25% because of higher risk of thrombus. A specific treatment by bromocriptine can be initiated on a case-by-case basis. Complete recovery of systolic function is observed in 50% of cases. The mortality risk is low. Subsequent pregnancy should be discouraged, especially if systolic function did not recover.

  10. Cushing's Disease Presented by Reversible Dilated Cardiomyopathy

    OpenAIRE

    Berna İmge Aydoğan; Demet Menekşe Gerede; Asena Gökçay Canpolat; Murat Faik Erdoğan

    2015-01-01

    Introduction. Dilated cardiomyopathy is rarely reported among CS patients especially without hypertension and left ventricular hypertrophy. Materials and Methods. We hereby report a Cushing’s syndrome case presenting with dilated cardiomyopathy. Results. A 48-year-old female patient was admitted to our clinic with severe proximal myopathy and dilated cardiomyopathy without ventricular hypertrophy. Cushing’s disease was diagnosed and magnetic-resonance imaging of the pituitary gland revealed a...

  11. Alcoholic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    Gonzalo; Guzzo-Merello; Marta; Cobo-Marcos; Maria; Gallego-Delgado; Pablo; Garcia-Pavia

    2014-01-01

    Alcohol is the most frequently consumed toxic substance in the world. Low to moderate daily intake of alcohol has been shown to have beneficial effects on the cardiovascular system. In contrast, exposure to high levels of alcohol for a long period could lead to progressive cardiac dysfunction and heart failure. Cardiac dysfunction associated with chronic and excessive alcohol intake is a specific cardiac disease known as alcoholic cardiomyopathy(ACM). In spite of its clinical importance, data on ACM and how alcohol damages the heart are limited. In this review, we evaluate available evidence linking excessive alcohol consumption with heart failure and dilated cardiomyopathy. Additionally, we discuss the clinical presentation, prognosis and treatment of ACM.

  12. Takotsubo cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Sénior, Juan Manuel

    2015-04-01

    Full Text Available Takotsubo cardiomyopathy or stress-induced cardiomyopathy is often diagnosed as an acute coronary syndrome in postmenopausal women, because its clinical presentation may mimic an acute myocardial infarction: anginal chest pain, changes in the ST segment and T wave in precordial leads and elevated cardiac biomarkers of necrosis. It is characterized by systolic dysfunction with transient ballooning of the apical and middle portions of the left ventricle in the absence of significant coronary disease. Prognosis is good and complete recovery occurs in days to weeks. We report three cases of postmenopausal women with initial diagnosis of acute myocardial infarction; no significant coronary lesions were found in the coronary angiography; apical ballooning, characteristic of this syndrome, was observed on left ventriculography. On follow-up, the three patients had complete recovery of systolic function at six weeks.

  13. Infiltrative Cardiomyopathies

    Science.gov (United States)

    Bejar, David; Colombo, Paolo C; Latif, Farhana; Yuzefpolskaya, Melana

    2015-01-01

    Infiltrative cardiomyopathies can result from a wide spectrum of both inherited and acquired conditions with varying systemic manifestations. They portend an adverse prognosis, with only a few exceptions (ie, glycogen storage disease), where early diagnosis can result in potentially curative treatment. The extent of cardiac abnormalities varies based on the degree of infiltration and results in increased ventricular wall thickness, chamber dilatation, and disruption of the conduction system. These changes often lead to the development of heart failure, atrioventricular (AV) block, and ventricular arrhythmia. Because these diseases are relatively rare, a high degree of clinical suspicion is important for diagnosis. Electrocardiography and echocardiography are helpful, but advanced techniques including cardiac magnetic resonance (CMR) and nuclear imaging are increasingly preferred. Treatment is dependent on the etiology and extent of the disease and involves medications, device therapy, and, in some cases, organ transplantation. Cardiac amyloid is the archetype of the infiltrative cardiomyopathies and is discussed in great detail in this review. PMID:26244036

  14. TAKOTSUBO CARDIOMYOPATHY: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Krishna M

    2014-08-01

    Full Text Available Takotsubo cardiomyopathy is a condition caused by intense emotional or physical stress leading to rapid and severe reversible cardiac dysfunction. A 44 year old labourer presented with three days old bilateral traumatic fracture of femur and severe respiratory distress; he was ventilated for one day. Echocardiography ruled out pulmonary embolism. Patient remained stable for the next three days. On the fifth day, he appeared fearful, presented with sudden chest pain, tachycardia and hypotension. Echocardiography revealed ejection fraction of 34%, global hypokinesia of left ventricle with apical ballooning and no regional wall motion abnormalities. Coronary angiography was done which revealed no vascular abnormalities. Diagnosis of Takotsubo cardiomyopathy was made and vasopressors were started. Psychiatric treatment of physical and emotional stress was done. Patient gradually improved with ongoing treatment and on eighth day his cardiac function reverted back to normal. Takotsubo cardiomyopathy can be efficiently managed by early recognition, proper supportive treatment and meticulous management of physical and emotional stress.

  15. Pregnancy, cardiomyopathies, and genetics

    NARCIS (Netherlands)

    Van Tintelen, J. Peter; Pieper, Petronella G.; Van Spaendonck-Zwarts, Karin Y.; Van den Berg, Maarten P.

    2014-01-01

    Although familial forms of cardiomyopathy such as hypertrophic or dilated cardiomyopathy have been recognized for decades, it is only recently that much of the genetic basis of these inherited cardiomyopathies has been elucidated. This has provided important insights into the pathophysiological mech

  16. Peripartum cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Rodolfo Citro

    2011-07-01

    Full Text Available Peripartum cardiomyopathy is an uncommon form of congestive heart failure associated with systolic dysfunction of left ventricle. The onset is characterised by symptoms of heart failure occurring between the last month of pregnancy and 5-6 months postpartum. The early diagnosis and the institution of medical treatment for this disease are essential because the inadequate management may affect the patient’s long-term prognosis and can lead to severe complications, including death.Currently its aetiology is not completely understood. Many aetiopathogenetic hypotheses have been formulated: inflammation, viral agents, autoimmune processes. In the last years, evidences aroused for a role of prolactin and its 16 kDa metabolite in reducing cardiomyocite metabolic activity and contraction. In this article we have reviewed the current literature with special emphasis on the role of prolactin and the related current treatment strategies. In particular, bromocriptine appears promising, even if women need to be informed that the drug stops the production of breastmilk. Further researchers, such as large multicenter trials, are needed to decide the best treatment for the women suffering of this disease.

  17. [Peripartum cardiomyopathy--a case report].

    Science.gov (United States)

    Banaczek, Zbigniew; Rak, Grzegorz; Gołyska-Rączkiewicz, Danuta

    2015-01-01

    Peripartum cardiomyopathy, a type of dilated cardiomyopathy of unknown origin, occurs in previously healthy women in the final month of pregnancy and up to 5 months after delivery. Although the incidence is low--less than 0.1% of pregnancies--morbidity and mortality rates are high at 5% to 32%. The etiology of left ventricular dysfunction is unknown. Diagnosis of peripartum cardiomyopathy requires heightened awareness among multidisciplinary patient care teams and a high degree of suspicion. Confirmation involves the echocardiography reveals severe left ventricular failure. The outcome of peripartum cardiomyopathy is also highly variable. For some women, the clinical and echocardiographic status improves and sometimes returns to normal, whereas for others, the disease progresses to severe cardiac failure and even sudden cardiac death. Management of peripartum cardiomyopathy should aim first at improving heart-failure symptoms through conventional therapies, and then at administering targeted therapies.The prognosis is best when peripartum cardiomyopathy is diagnosed and treated early. Fortunately, despite a high risk of recurrence in subsequent pregnancies, many patients with peripartum cardiomyopathy recover within 3 to 6 months of disease onset. Future pregnancy is not recommended especially in patients with persistent left ventricular dysfunction because of the risk of dangerous complications.

  18. Peripartum Cardiomyopathy: A Case Report

    Directory of Open Access Journals (Sweden)

    Z Basirat

    2006-04-01

    Full Text Available ABSTRACT: Introduction & Objective: Peripartum cardiomyopathy is a rare but sometimes fatal form of heart failure during the period of 1 month antepartum to 5 months postpartum. The aim of this report is to assess the clinical presentation, management and crucial role of echocardiography in women with peripartum cardiomyopathy. Case: A 22 year-old woman, with previously healthy primipara, was admitted to the emergency ward with sever dyspnea, cough, and bloody hemoptesis and a preliminary diagnosis of pulmonary embolism (PE two weeks after cesarean section. Neither perfusion scintigaphy nor Doppler sonography test of lower extremities and pelvis showed any evidence of PE or deep venous thrombosis. Echocardiography revealed features of left ventricular failure. A diagnosis of peripartum cardiomyopathy was made, appropriate treatment was administered and the patient improved. Conclusion: It is possible to misdiagnose peripartum cardiomyopathy with PE. Echocardiography is a valuable tool in the differential diagnosis. As a noninvasive procedure, it should be performed at the bedside as soon as possible to introduce proper treatment and to avoid potentially fatal errors.

  19. [Arrhythmic cardiomyopathy. Case report].

    Science.gov (United States)

    Streangă, Violeta; Dimitriu, A G; Iordache, C; Georgescu, G; Grecu, Mihaela

    2004-01-01

    An 11 year-old boy was admitted with incessant sinus node reentrant tachycardia and secondary dilated arrhythmic cardiomyopathy, treated by radiofrequency ablation. Two years later he was admitted with incessant automatic atrial tachycardia and arrhythmic cardiomyopathy; a second catheter ablation procedure failed, but the third one, performed four month later, was successfully and resulted in a restoration of a normal sinus rhythm and a complete regression of arrhythmic cardiomyopathy.

  20. Takotsubo Cardiomyopathy Occurring in the Postoperative Period.

    Science.gov (United States)

    Deniz, Süleyman; Bakal, Ömer; İnangil, Gökhan; Şen, Hüseyin; Özkan, Sezai

    2015-02-01

    Takotsubo cardiomyopathy simulates acute myocardial infarction, and it is characterised by reversible left ventricular failure. A case of Takotsubo cardiomyopathy diagnosed after emergency angiography performed in a patient with evidence of acute myocardial infarction in the postoperative period will be described in this report. Transurethral resection of a bladder tumour (TUR-BT) was performed in a 92-year-old male patient by the urology clinic. The patient was transferred to the post-anaesthesia care unit after the operation. An echocardiography was performed because of the sudden onset of dyspnoea, tachycardia (140-150 beats per minute, rhythm-atrial fibrillation) and ST-segment elevation on electrocardiography (ECG) at the first postoperative hour, and midapical dyskinesia was detected at the patient. An immediate angiography was performed due to suspicion of acute coronary syndrome. Patent coronary arteries and temporary aneurysmatic dilatation of the apex of the heart were revealed by angiography. As a result of these findings, the patient was diagnosed with Takotsubo cardiomyopathy by the cardiology service. The patient was discharged uneventfully following 10 days in the intensive care unit. Aneurysm of the apex of the left ventricle and normal anatomy of the coronary arteries in the angiography have diagnostic value for Takotsubo cardiomyopathy. Diuretics (furosemide) and beta-blockers (metoprolol) are commonly used for the treatment of Takotsubo cardiomyopathy. Even though Takotsubo cardiomyopathy is a rare and benign disease, it should be kept in mind in patients suspected for acute myocardial infarction in the postoperative period.

  1. Sheehan syndrome with reversible dilated cardiomyopathy.

    Science.gov (United States)

    Laway, Bashir A; Alai, Mohammad S; Gojwari, Tariq; Ganie, Mohd A; Zargar, Abdul Hamid

    2010-01-01

    Cardiac abnormalities in patients with Sheehan syndrome are uncommon. A case of Sheehan syndrome with dilated cardiomyopathy is presented in whom hormone replacement with levothyroxine and prednisolone resulted in complete recovery of cardiomyopathy. A 25-year-old woman presented with lactation failure, secondary amenorrhea, features of hypothyroidism and a hypocortisol state following severe postpartum hemorrhage after her last child birth. She also had smear positive pulmonary tuberculosis. After starting antitubercular treatment, she developed shock, suggestive of hypocortisol crisis. Hormonal investigations revealed evidence of panhypopitutarism and magnetic resonance imaging revealed partial empty sella. Meanwhile echocardiography revealed evidence of dilated cardiomyopathy (DCM). The patient was given replacement therapy in the form of glucocorticoids and levothyroxine in addition to antitubercular treatment. She improved and on follow-up over a period of 7 months, the DCM completely reversed. To our knowledge this is the first report of reversible DCM in a patient with Sheehan syndrome.

  2. Two cases of apical ballooning syndrome masking apical hypertrophic cardiomyopathy.

    Science.gov (United States)

    Roy, Ranjini Raina; Hakim, Fayaz A; Hurst, R Todd; Simper, David; Appleton, Christopher P

    2014-04-01

    Apical akinesis and dilation in the absence of obstructive coronary artery disease is a typical feature of stress-induced (takotsubo) cardiomyopathy, whereas apical hypertrophy is seen in apical-variant hypertrophic cardiomyopathy. We report the cases of 2 patients who presented with takotsubo cardiomyopathy and were subsequently found to have apical-variant hypertrophic cardiomyopathy, after the apical ballooning from the takotsubo cardiomyopathy had resolved. The first patient, a 43-year-old woman with a history of alcohol abuse, presented with shortness of breath, electrocardiographic and echocardiographic features consistent with takotsubo cardiomyopathy, and no significant coronary artery disease. An echocardiogram 2 weeks later revealed a normal left ventricular ejection fraction and newly apparent apical hypertrophy. The 2nd patient, a 70-year-old woman with pancreatitis, presented with chest pain, apical akinesis, and a left ventricular ejection fraction of 0.39, consistent with takotsubo cardiomyopathy. One month later, her left ventricular ejection fraction was normal; however, hypertrophy of the left ventricular apex was newly noted. To our knowledge, these are the first reported cases in which apical-variant hypertrophic cardiomyopathy was masked by apical ballooning from stress-induced cardiomyopathy.

  3. Peripartum cardiomyopathy: a review.

    Science.gov (United States)

    Bhattacharyya, Anirban; Basra, Sukhdeep Singh; Sen, Priyanka; Kar, Biswajit

    2012-01-01

    Peripartum cardiomyopathy is idiopathic heart failure occurring in the absence of any determinable heart disease during the last month of pregnancy or the first 5 months postpartum. The incidence varies worldwide but is high in developing nations; the cause of the disease might be a combination of environmental and genetic factors. Diagnostic echocardiographic criteria include left ventricular ejection fraction 2.7 cm/m(2). Electrocardiography, magnetic resonance imaging, endomyocardial biopsy, and cardiac catheterization aid in the diagnosis and management of peripartum cardiomyopathy. Cardiac protein assays can also be useful, as suggested by reports of high levels of NT-proBNP, cardiac troponin, tumor necrosis factor-α, interleukin-6, interferon-γ, and C-reactive protein in peripartum cardiomyopathy. The prevalence of mutations associated with familial dilated-cardiomyopathy genes in patients with peripartum cardiomyopathy suggests an overlap in the clinical spectrum of these 2 diseases.Treatment for peripartum cardiomyopathy includes conventional pharmacologic heart-failure therapies-principally diuretics, angiotensin-converting enzyme inhibitors, vasodilators, digoxin, β-blockers, anticoagulants, and peripartum cardiomyopathy-targeted therapies. Therapeutic decisions are influenced by drug-safety profiles during pregnancy and lactation. Mechanical support and transplantation might be necessary in severe cases. Targeted therapies (such as intravenous immunoglobulin, pentoxifylline, and bromocriptine) have shown promise in small trials but require further evaluation. Fortunately, despite a mortality rate of up to 10% and a high risk of relapse in subsequent pregnancies, many patients with peripartum cardiomyopathy recover within 3 to 6 months of disease onset.

  4. Inherited cardiomyopathies caused by troponin mutations

    Institute of Scientific and Technical Information of China (English)

    Qun-Wei Lu; Xiao-Yan Wu; Sachio Morimoto

    2013-01-01

    Genetic investigations of cardiomyopathy in the recent two decades have revealed a large number of mutations in the genes encoding sarcomeric proteins as a cause of inherited hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), or restrictive cardiomyopathy (RCM). Most functional analyses of the effects of mutations on cardiac muscle contraction have revealed significant changes in the Ca2+-regulatory mechanism, in which cardiac troponin (cTn) plays important structural and functional roles as a key regulatory protein. Over a hundred mutations have been identified in all three subunits of cTn, i.e., cardiac troponins T, I, and C. Recent studies on cTn mutations have provided plenty of evidence that HCM- and RCM-linked mutations increase cardiac myofilament Ca2+ sensitivity, while DCM-linked mutations decrease it. This review focuses on the functional consequences of mutations found in cTn in terms of cardiac myofilament Ca2+ sensitivity, ATPase activity, force generation, and cardiac troponin I phosphorylation, to understand potential molecular and cellular pathogenic mechanisms of the three types of inherited cardiomyopathy.

  5. Patient with Eating Disorder, Carnitine Deficiency and Dilated Cardiomyopathy.

    Science.gov (United States)

    Fotino, A Domnica; Sherma, A

    2015-01-01

    Dilated cardiomyopathy is characterized by a dilated and poorly functioning left ventricle and can result from several different etiologies including ischemic, infectious, metabolic, toxins, autoimmune processes or nutritional deficiencies. Carnitine deficiency-induced cardiomyopathy (CDIM) is an uncommon cause of dilated cardiomyopathy that can go untreated if not considered. Here, we describe a 30-year-old woman with an eating disorder and recent percutaneous endoscopic gastrotomy (PEG) tube placement for weight loss admitted to the hospital for possible PEG tube infection. Carnitine level was found to be low. Transthoracic echocardiogram (TTE) revealed ejection fraction 15%. Her hospital course was complicated by sepsis from a peripherally inserted central catheter (PICC). She was discharged on a beta-blocker and carnitine supplementation. One month later her cardiac function had normalized. Carnitine deficiency-induced myopathy is an unusual cause of cardiomyopathy and should be considered in adults with decreased oral intake or malabsorption who present with cardiomyopathy.

  6. Acute peritonitis as the first presentation of valvular cardiomyopathy.

    LENUS (Irish Health Repository)

    Higgins, Nikki

    2012-02-01

    Valvular cardiomyopathy can present a diagnostic challenge in the absence of overt cardiac symptoms. This report describes the case of a 46-year-old woman who presented with acute peritonitis associated with vomiting and abdominal distension. Subsequent abdominal computed tomography and ultrasound revealed bibasal pleural effusions, ascites, and normal ovaries. An echocardiogram revealed that all cardiac chambers were dilated with a global decrease in contractility and severe mitral, tricuspid, and aortic regurgitation. A diagnosis of cardiomyopathy with acute heart failure, secondary to valvular heart disease, was secured. Acute peritonitis as the presenting feature of valvular cardiomyopathy is a rare clinical entity.

  7. Sex differences in cardiomyopathies

    NARCIS (Netherlands)

    Meyer, Sven; van der Meer, Peter; van Tintelen, J. Peter; van den Berg, Maarten P.

    2014-01-01

    Cardiomyopathies are a heterogeneous group of heart muscle diseases with a variety of specific phenotypes. According to the contemporary European Society of Cardiology classification, they are classified into hypertrophic (HCM), dilated (DCM), arrhythmogenic right ventricular (ARVC), restrictive (RC

  8. Children's Cardiomyopathy Foundation

    Science.gov (United States)

    ... families living with cardiomyopathy through CCF’s new online Coffee & Chat event. On Wednesday, November 16, CCF will be hosting "Navigating Disability Benefits," a webinar to provide an overview of disability ...

  9. 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

  10. Peripartum cardiomyopathy: a review

    Directory of Open Access Journals (Sweden)

    Capriola M

    2012-12-01

    Full Text Available Michael CapriolaThomasville Medical Center, Department of Emergency Medicine, Thomasville Medical Center, Thomasville, NC, USAAbstract: Peripartum cardiomyopathy (PPCM is a form of dilated cardiomyopathy of unclear etiology affecting women without preexisting heart disease during the last month of pregnancy or during the first 5 months postpartum. Its incidence shows marked geographic and ethnic variation, being most common in Africa and among women of African descent. Most women present in the first month postpartum with typical heart failure symptoms such as dyspnea, lower extremity edema, and fatigue. These symptoms are often initially erroneously diagnosed as part of the normal puerperal process. Diagnosis can be aided by the finding of a significantly elevated serum brain natriuretic peptide. The etiology of PPCM is unclear; however, recent research suggests abnormal prolactin metabolism is seminal in its development, and prolactin antagonism with bromocriptine shows promise as a novel treatment for PPCM.Keywords: pregnancy, pregnancy complications, cardiovascular, cardiomyopathy, dilated

  11. Treatment of Chagas Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Fernando A. Botoni

    2013-01-01

    Full Text Available Chagas' disease (ChD, caused by the protozoa Trypanosoma cruzi (T. cruzi, was discovered and described by the Brazilian physician Carlos Chagas in 1909. After a century of original description, trypanosomiasis still brings much misery to humanity and is classified as a neglected tropical disease prevalent in underdeveloped countries, particularly in South America. It is an increasing worldwide problem due to the number of cases in endemic areas and the migration of infected subjects to more developed regions, mainly North America and Europe. Despite its importance, chronic chagas cardiomyopathy (CCC pathophysiology is yet poorly understood, and independently of its social, clinical, and epidemiological importance, the therapeutic approach of CCC is still transposed from the knowledge acquired from other cardiomyopathies. Therefore, the objective of this review is to describe the treatment of Chagas cardiomyopathy with emphasis on its peculiarities.

  12. Tako-tsubo cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    Yan Zhuang; Di Xu

    2009-01-01

    Tako-tsubo cardiomyopathy(TC) is a recently described acute cardiac syndrome, which the latest cardiomyopathy classification of the European Society of Cardiology describes as an unclassified cardiomyopathy. TC mimics acute myocardial infarction(AMI) and is characterised by ischaemic chest symptoms, an elevated electrocardiogram ST-segment, and moderately increased levels of cardiac disease markers. However, patients with TC have no coronary angiogram-detectable or non-obstructive coronary arterial disease(CAD), and left ventriculography documents transient left apical and middle ventricular wall dysfunction. In this review, we describe TC and evaluate epidemiological, clinical and instrumental features, pathophysiological mechanisms, therapy and prognosis of this syndrome, with a view to raising awareness of the disease.

  13. Arrhythmias in peripartum cardiomyopathy.

    Science.gov (United States)

    Honigberg, Michael C; Givertz, Michael M

    2015-06-01

    Peripartum cardiomyopathy (PPCM) is a complication of late pregnancy and the early postpartum period characterized by dilated cardiomyopathy and heart failure with reduced ejection fraction. Approximately half of women fail to recover left ventricular function. Standard management of heart failure is indicated, with some exceptions for women who are predelivery or breastfeeding. Atrial and ventricular arrhythmias are reported in PPCM, but the frequency of arrhythmias in this condition is not well characterized. Management of PPCM-associated arrhythmias may include antiarrhythmic drugs, catheter ablation, and wearable or implantable cardioverter-defibrillators. Further research is needed on the prevalence, natural history, and optimal management of arrhythmias in PPCM.

  14. Restrictive cardiomyopathy. Report of seven cases

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    Fonseca Sánchez Luis Alfonso

    2014-07-01

    Full Text Available Restrictive cardiomyopathy is a disease characterized by ventricular diastolic failure with elevation of end-dyastolic pressure and preserved systolic function. Materials and methods: retrospective study of patients with a diagnosis of restrictive cardiomyopathy. We carry out an analysis of demographic data, clinical presentation, and studies of patients diagnosed in the last 15 years at Instituto Nacional de Pediatría. Results: all included patients had clinical data of heart failure manifested mainly by medium-sized efforts dyspnea on schoolchildren and dyspnea by feeding in infants, as well as polypnea and diaphoresis. The most important signs were hepatomegaly, ascites, and gallop rhythm. Cardiomegaly by right atrial dilatation was the most frequent radiological data. The most frequent electrocardiographic data were dilatation of both atria, ST-segment depression and negative T waves. Echocardiogram showed in all cases binaural dilation and restrictive pattern. Conclusions: our patients were similar to those described in the specialized literature. Echocardiogram is still the best study for the diagnosis and the use of functional measurements as Doppler imaging can help to reveal early diastolic failure. In our country the heart transplant is just feasible; mortality remains 100%. Keywords: Restrictive cardiomyopathy, Heart failure, Cardiomyopathy.

  15. Cardiomyopathy Following Latrodectus Envenomation

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    Levine, Michael

    2010-12-01

    Full Text Available Latrodectus envenomations are common throughout the United States and the world. While many envenomations can result in catecholamine release with resultant hypertension and tachycardia, myocarditis is very rare. We describe a case of a 22- year-old male who sustained a Latrodectus envenomation complicated by cardiomyopathy. [West J Emerg Med. 2010; 11(5:521-523.

  16. Saw-tooth cardiomyopathy

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    Karatza Ageliki A

    2009-12-01

    Full Text Available Abstract We present an unusual case of cardiomyopathy in a two month old male infant with a grade-I systolic murmur. Echocardiographic examination disclosed left ventricular (LV, dysplasia with saw-tooth like inwards myocardial projections extending from the lateral walls towards the LV cavity. There was mild LV systolic dysfunction with apical hypokinesia. Cardiovascular magnetic resonance demonstrated in detail these cross bridging muscular projections originating from the inferior interventricular septum and lateral LV wall, along with areas of hypokinesis at the LV septum and apex in a noncoronary distribution, without any late gadolinium enhancement. We have termed this condition saw-tooth cardiomyopathy because of the very characteristic appearance.

  17. Biventricular takotsubo cardiomyopathy: case study and review of literature.

    Science.gov (United States)

    Daoko, Joseph; Rajachandran, Manu; Savarese, Ronald; Orme, Joseph

    2013-01-01

    Biventricular takotsubo cardiomyopathy is associated with more hemodynamic instability than is isolated left ventricular takotsubo cardiomyopathy; medical management is more invasive and the course of hospitalization is longer. In March 2011, a 62-year-old woman presented at our emergency department with abdominal pain, nausea, and vomiting. On hospital day 2, she experienced chest pain. An electrocardiogram and cardiac enzyme levels suggested an acute myocardial infarction. She underwent cardiac angiography and was found to have severe left ventricular systolic dysfunction involving the mid and apical segments, which resulted in a left ventricular ejection fraction of 0.10 to 0.15 in the absence of obstructive coronary artery disease. Her hospital course was complicated by cardiogenic shock that required hemodynamic support with an intra-aortic balloon pump and dobutamine. A transthoracic echocardiogram revealed akinesis of the mid-to-distal segments of the left ventricle and mid-to-apical dyskinesis of the right ventricular free wall characteristic of biventricular takotsubo cardiomyopathy. After several days of medical management, the patient was discharged from the hospital in stable condition. To the best of our knowledge, this is the first review of the literature on biventricular takotsubo cardiomyopathy that compares its hemodynamic instability and medical management requirements with those of isolated left ventricular takotsubo cardiomyopathy. Herein, we discuss the case of our patient, review the pertinent medical literature, and convey the prevalence and importance of right ventricular involvement in patients with takotsubo cardiomyopathy.

  18. MRI of the cardiomyopathies

    Energy Technology Data Exchange (ETDEWEB)

    Di Cesare, Ernesto E-mail: ernesto.dicesare@cc.univaq.it

    2001-06-01

    We examined the potentialities of Magnetic resonance imaging (MRI) in the evaluation of the main cardiomyopathies: hypertrophic, dilated, restrictive and arrhythmogenic right ventricular. The hypertrophic cardiomyopathy is generally adequately investigated by echocardiography, that well defines the myocardial thickening and the obstruction of the left ventricular output. However, by echocardiography we still have difficulties in the evaluation of the apex of the left ventricle and the right ventricle involvement. MRI provides a complete evaluation of the heart with a clear evidence also of the echocardiographic dark zones by means of a clear evidence of the apex of the right ventricle. The dilated form is also well investigated by MRI that provides a clear evaluation of the volumes, mass and ejection fraction by means of the 3D analysis including conditions of the ventricular remodelling. Moreover, this technique helps in the differential diagnosis of acute myocarditis. In the acute phase of myocarditis (first 2 weeks), in fact, the myocardium produces high signal intensity on the T2 weighted sequences due to the presence of oedema. The third form of cardiomyopathy is the restrictive one, characterised by reduced diastolic filling and diastolic volume, normality of the systolic function and parietal thickness, interstitial fibrosis and enlargement of both atria. The mean potentiality of MRI is related to the differential diagnosis with constrictive pericarditis. Only in the former, the pericardium appears irregularly thickened with areas exceeding 4 mm of pericardial thickness. Finally, the right ventricular arrhythmogenic cardiomyopathy represents the main indication to MRI evaluation. With this imaging modality we are can obtain a clear morpho-functional evaluation of the right ventricle and distinguish the intramyocardial adipose substitution characterised by areas of high signal in the myocardium.

  19. Peripartum Cardiomyopathy as a Part of Familial Dilated Cardiomyopathy

    NARCIS (Netherlands)

    van Spaendonck-Zwarts, Karin Y.; van Tintelen, J. Peter; van Veldhuisen, Dirk J.; van der Werf, Rik; Jongbloed, Jan D. H.; Paulus, Walter J.; Dooijes, Dennis; van den Berg, Maarten P.

    2010-01-01

    Background-Anecdotal cases of familial clustering of peripartum cardiomyopathy (PPCM) and familial occurrences of PPCM and idiopathic dilated cardiomyopathy (DCM) together have been observed, suggesting that genetic factors play a role in the pathogenesis of PPCM. We hypothesized that some cases of

  20. Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy

    NARCIS (Netherlands)

    K.Y. van Spaendonck-Zwarts (Karin); J.P. van Tintelen (Peter); D.J. van Veldhuisen (Dirk); R. van der Werf (Rik); J.D.H. Jongbloed (Jan); W.J. Paulus (Walter); D. Dooijes (Dennis); M.P. van den Berg (Maarten)

    2010-01-01

    textabstractBACKGROUND-: Anecdotal cases of familial clustering of peripartum cardiomyopathy (PPCM) and familial occurrences of PPCM and idiopathic dilated cardiomyopathy (DCM) together have been observed, suggesting that genetic factors play a role in the pathogenesis of PPCM. We hypothesized that

  1. Role of neuropeptides in cardiomyopathies.

    Science.gov (United States)

    Dvorakova, Magdalena Chottova; Kruzliak, Peter; Rabkin, Simon W

    2014-11-01

    The role of neuropeptides in cardiomyopathy-associated heart failure has been garnering more attention. Several neuropeptides--Neuropeptide Y (NPY), vasoactive intestinal peptide (VIP), calcitonin gene related peptide (CGRP), substance P (SP) and their receptors have been studied in the various types of cardiomyopathies. The data indicate associations with the strength of the association varying depending on the kind of neuropeptide and the nature of the cardiomyopathy--diabetic, ischemic, inflammatory, stress-induced or restrictive cardiomyopathy. Several neuropeptides appear to alter regulation of genes involved in heart failure. Demonstration of an association is an essential first step in proving causality or establishing a role for a factor in a disease. Understanding the complexity of neuropeptide function should be helpful in establishing new or optimal therapeutic strategies for the treatment of heart failure in cardiomyopathies.

  2. Peripartum Cardiomyopathy From a Genetic Perspective.

    Science.gov (United States)

    Kamiya, Chizuko A; Yoshimatsu, Jun; Ikeda, Tomoaki

    2016-07-25

    Peripartum cardiomyopathy (PPCM) is a rare, but life-threatening condition that occurs during the peripartum period in previously healthy women. Although its etiology remains unknown, potential risk factors include hypertensive disorders during pregnancy, such as preeclampsia, advanced maternal age, multiparity, multiple gestation, and African descent. Several cohort studies of PPCM revealed that the prevalence of these risk factors was quite similar. Clinically, approximately 40% of PPCM patients are complicated with hypertensive disorders during pregnancy. Because PPCM is a diagnosis of exclusion, heterogeneity is a common element in its pathogenesis. Recent genetic research has given us new aspects of the disease. PPCM and dilated cardiomyopathy (DCM) share genetic predisposition: 15% of PPCM patients were found to have genetic mutations that have been associated with DCM, and they showed a lower recovery rate. Other basic research using PPCM model mice suggests that predisposition genes related to both hypertensive and cardiac disorders via angiogenic imbalance may explain common elements of hypertensive disorders and PPCM. Furthermore, hypertensive disorders during pregnancy are now found to be a risk factor of not only PPCM, but also cardiomyopathy in the future. Understanding genetic variations allows us to stratify PPCM patients and to guide therapy. (Circ J 2016; 80: 1684-1688).

  3. Systematic review of pregnancy in women with inherited cardiomyopathies

    NARCIS (Netherlands)

    Krul, Sebastien P. J.; van der Smagt, Jasper J.; van den Berg, Maarten P.; Sollie, Krystyna M.; Pieper, Petronella G.; van Spaendonck-Zwarts, Karin Y.

    2011-01-01

    Pregnancy exposes women with inherited cardiomyopathies to increased risk for heart failure and arrhythmias. In this paper, we review the clinical course and management of pregnant women with the following inherited cardiomyopathies: hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogeni

  4. Oxidative Stress in Dilated Cardiomyopathy Caused by MYBPC3 Mutation

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    Thomas L. Lynch

    2015-01-01

    Full Text Available Cardiomyopathies can result from mutations in genes encoding sarcomere proteins including MYBPC3, which encodes cardiac myosin binding protein-C (cMyBP-C. However, whether oxidative stress is augmented due to contractile dysfunction and cardiomyocyte damage in MYBPC3-mutated cardiomyopathies has not been elucidated. To determine whether oxidative stress markers were elevated in MYBPC3-mutated cardiomyopathies, a previously characterized 3-month-old mouse model of dilated cardiomyopathy (DCM expressing a homozygous MYBPC3 mutation (cMyBP-C(t/t was used, compared to wild-type (WT mice. Echocardiography confirmed decreased percentage of fractional shortening in DCM versus WT hearts. Histopathological analysis indicated a significant increase in myocardial disarray and fibrosis while the second harmonic generation imaging revealed disorganized sarcomeric structure and myocyte damage in DCM hearts when compared to WT hearts. Intriguingly, DCM mouse heart homogenates had decreased glutathione (GSH/GSSG ratio and increased protein carbonyl and lipid malondialdehyde content compared to WT heart homogenates, consistent with elevated oxidative stress. Importantly, a similar result was observed in human cardiomyopathy heart homogenate samples. These results were further supported by reduced signals for mitochondrial semiquinone radicals and Fe-S clusters in DCM mouse hearts measured using electron paramagnetic resonance spectroscopy. In conclusion, we demonstrate elevated oxidative stress in MYPBC3-mutated DCM mice, which may exacerbate the development of heart failure.

  5. Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.

    Science.gov (United States)

    Caleshu, Colleen; Sakhuja, Rahul; Nussbaum, Robert L; Schiller, Nelson B; Ursell, Philip C; Eng, Celeste; De Marco, Teresa; McGlothlin, Dana; Burchard, Esteban González; Rame, J Eduardo

    2011-09-01

    Mutations in genes that encode components of the sarcomere are well established as the cause of hypertrophic and dilated cardiomyopathies. Sarcomere genes, however, are increasingly being associated with other cardiomyopathies. One phenotype more recently recognized as a disease of the sarcomere is restrictive cardiomyopathy (RCM). We report on two patients with RCM associated with multiple mutations in sarcomere genes not previously associated with RCM. Patient 1 presented with NYHA Class III/IV heart failure at 22 years of age. She was diagnosed with RCM and advanced heart failure requiring heart transplantation. Sequencing of sarcomere genes revealed previously reported homozygous p.Glu143Lys mutations in MYL3, and a novel heterozygous p.Gly57Glu mutation in MYL2. The patient's mother is a double heterozygote for these mutations, with no evidence of cardiomyopathy. Patient 2 presented at 35 years of age with volume overload while hospitalized for oophorectomy. She was diagnosed with RCM and is being evaluated for heart transplantation. Sarcomere gene sequencing identified homozygous p.Asn279His mutations in TPM1. The patient's parents are consanguineous and confirmed heterozygotes. Her father was diagnosed with HCM at 42 years of age. This is the first report of mutations in TPM1, MYL3, and MYL2 associated with primary, non-hypertrophied RCM. The association of more sarcomere genes with RCM provides further evidence that mutations in the various sarcomere genes can cause different cardiomyopathy phenotypes. These cases also contribute to the growing body of evidence that multiple mutations have an additive effect on the severity of cardiomyopathies.

  6. Arrhythmogenic cardiomyopathy in a patient with Noonan syndrome.

    Science.gov (United States)

    Altamirano, Eugenia; Drut, Ricardo

    2010-01-01

    Arrhythmogenic ventricular cardiomyopathy (AVC) presents with fat replacement of the myocardium, most commonly of the right ventricle, and ventricular arrhythmias. We report an 11-year-old boy with Noonan syndrome, ventricular arrhythmias, and an ultrasound depicting hypertrophy of the ventricular septum with subaortic stenosis. A surgical resection of the left side of the ventricular septum revealed a thick fibroelastotic endocardium covering a broad band of mature adipose tissue focally containing myocardial cells, fibrosis and chronic inflammatory infiltrates. The two layers covered a band of hypertrophic myocardiocytes with mild interstitial fibrosis. Arrhythmogenic ventricular cardiomyopathy has not been previously reported in the Noonan syndrome.

  7. Biventricular takotsubo cardiomyopathy: case report and general discussion.

    Science.gov (United States)

    Angelini, Paolo; Monge, Jorge; Simpson, Leo

    2013-01-01

    In recent years, our understanding of the physiologic mechanisms of transient takotsubo cardiomyopathy has improved because of the growing use of emergent heart catheterization in patients who present with severe ischemic syndromes. However, even this procedure has revealed only that, in most patients with takotsubo syndrome, the sudden onset of ventricular dysfunction is not due to fixed coronary artery occlusions. We present a case of transient takotsubo cardiomyopathy with an exceptional feature--uneven impairment of both right and left ventricular function, or biventricular takotsubo--and we discuss a novel, comprehensive theory that we have devised to explain the pathophysiology of this syndrome's many manifestations.

  8. Dilated cardiomyopathy after electrical injury: report of two cases.

    Science.gov (United States)

    Buono, Lee M; DePace, Nicholas L; Elbaum, David M

    2003-05-01

    The specific etiologic factor and pathogenesis of most dilated cardiomyopathies have yet to be described definitively. Hypotheses of the etiologic factor of idiopathic dilated cardiomyopathy (DCM) abound. This report describes two patients with electrical injury in whom DCM developed after the electrical insult in the absence of other precipitating causes. Further histologic examination of myocardial tissue after electrical injury may reveal clues regarding the pathophysiology behind electrically induced DCM. Because electrical injury may be associated with myocardial dysfunction, short- and long-term evaluation of left ventricular function may be warranted.

  9. New insights into cirrhotic cardiomyopathy

    DEFF Research Database (Denmark)

    Møller, Søren; Hove, Jens D; Dixen, Ulrik

    2013-01-01

    Cirrhotic cardiomyopathy designates a cardiac dysfunction, which includes reduced cardiac contractility with systolic and diastolic dysfunction, and presence of electrophysiological abnormalities in particular prolongation of the QT interval. Several pathophysiological mechanisms including reduce...

  10. Takotsubo cardiomyopathy following subarachnoid haemorrhage.

    Science.gov (United States)

    Maekawa, Hidetsugu; Hadeishi, Hiromu

    2014-08-01

    A 67-year-old woman was admitted with aneurysmal subarachnoid haemorrhage and a 12-lead ECG showed ST segment elevation. Transthoracic echocardiography confirmed akinesis of the left ventricular mid-apical segment, with an ejection fraction of 26%, features characteristic of takotsubo cardiomyopathy. Five days later, we identified thrombus in the apex of the left ventricle. Sixteen days after onset, the thrombus had disappeared and wall motion improved (ejection fraction 58%) without evidence of cardioembolism. Takotsubo cardiomyopathy is a cause of cardiac dysfunction after stroke, including SAH. It is characterised by transiently depressed contractile function of the left mid and apical ventricle, without obstructive coronary artery disease. Clinicians should suspect takotsubo cardiomyopathy in patients with subarachnoid haemorrhage who have an ECG abnormality. Echocardiography is needed to detect the distinctive regional wall motion abnormality. Despite its severity in the acute phase, takotsubo cardiomyopathy is self-limiting and its management is conservative.

  11. Electrocardiographic abnormalities and uremic cardiomyopathy

    NARCIS (Netherlands)

    Stewart, GA; Gansevoort, RT; Mark, PB; Rooney, E; McDonagh, TA; Dargie, HJ; Stuart, R; Rodger, C; Jardine, AG

    2005-01-01

    Background. Progressive renal disease is associated with an increased risk of cardiovascular death, specifically sudden death. We investigated the link between uremic cardiomyopathy, QT interval and dispersal, and arrhythmias (by ambulatory ECG monitoring) in patients at different stages of progress

  12. Genetics of cardiomyopathies in children

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    Matteo Vatta

    2011-08-01

    Full Text Available Cardiomyopathies are diseases of the heart muscle leading to heart failure and/or an increased risk of arrhythmogenic sudden cardiac death. These disorders represent a major cause of morbidity and mortality in children. In childhood forms of cardiomyopathy, genetic etiologies are frequent, but non-genetic or acquired causes, such viral infection, also play a significant role. In the last twenty years, the genetic causes of cardiomyopathies have been increasingly identified and clinical correlations are beginning to be defined. Here we present an overview of the recent advances in our understanding of the genetics of cardiomyopathies in children and what is known about the pathophysiological mechanisms underlying these gene-related forms of disease.

  13. Takotsubo Cardiomyopathy and Catatonia in the Setting of Benzodiazepine Withdrawal.

    Science.gov (United States)

    Peng, Teng J; Patchett, Nicholas D; Bernard, Sheilah A

    2016-01-01

    We report two serious and unusual complications of benzodiazepine withdrawal in a single patient: takotsubo cardiomyopathy and catatonia. This 61-year-old female patient was brought to the emergency department with lethargy and within hours had declined into a state of catatonia. Although there was never a complaint of chest pain, ECG showed deep anterior T-wave inversions and cardiac enzymes were elevated. An echocardiogram was consistent with takotsubo cardiomyopathy. She later received 1 mg of midazolam and within minutes had resolution of catatonic symptoms. Careful history revealed that she had omitted her daily dose of lorazepam for 3 days prior to admission. To our knowledge, the case presented herein is the first report of simultaneous catatonia and takotsubo cardiomyopathy in the setting of benzodiazepine withdrawal. The pathogenesis of both conditions is poorly understood but may be indirectly related to the sudden decrease in γ-aminobutyric acid (GABA) signaling during benzodiazepine withdrawal.

  14. Takotsubo Cardiomyopathy and Catatonia in the Setting of Benzodiazepine Withdrawal

    Directory of Open Access Journals (Sweden)

    Teng J. Peng

    2016-01-01

    Full Text Available We report two serious and unusual complications of benzodiazepine withdrawal in a single patient: takotsubo cardiomyopathy and catatonia. This 61-year-old female patient was brought to the emergency department with lethargy and within hours had declined into a state of catatonia. Although there was never a complaint of chest pain, ECG showed deep anterior T-wave inversions and cardiac enzymes were elevated. An echocardiogram was consistent with takotsubo cardiomyopathy. She later received 1 mg of midazolam and within minutes had resolution of catatonic symptoms. Careful history revealed that she had omitted her daily dose of lorazepam for 3 days prior to admission. To our knowledge, the case presented herein is the first report of simultaneous catatonia and takotsubo cardiomyopathy in the setting of benzodiazepine withdrawal. The pathogenesis of both conditions is poorly understood but may be indirectly related to the sudden decrease in γ-aminobutyric acid (GABA signaling during benzodiazepine withdrawal.

  15. Takotsubo Cardiomyopathy and Catatonia in the Setting of Benzodiazepine Withdrawal

    Science.gov (United States)

    Peng, Teng J.

    2016-01-01

    We report two serious and unusual complications of benzodiazepine withdrawal in a single patient: takotsubo cardiomyopathy and catatonia. This 61-year-old female patient was brought to the emergency department with lethargy and within hours had declined into a state of catatonia. Although there was never a complaint of chest pain, ECG showed deep anterior T-wave inversions and cardiac enzymes were elevated. An echocardiogram was consistent with takotsubo cardiomyopathy. She later received 1 mg of midazolam and within minutes had resolution of catatonic symptoms. Careful history revealed that she had omitted her daily dose of lorazepam for 3 days prior to admission. To our knowledge, the case presented herein is the first report of simultaneous catatonia and takotsubo cardiomyopathy in the setting of benzodiazepine withdrawal. The pathogenesis of both conditions is poorly understood but may be indirectly related to the sudden decrease in γ-aminobutyric acid (GABA) signaling during benzodiazepine withdrawal. PMID:27547472

  16. Report of Methamphetamine use and Cardiomyopathy in Three Patients

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    Roxana Sadeghi

    2012-08-01

    Full Text Available Background Methamphetamine (meth is a stimulant used illegally around the world, including in Iran. Cardiomyopathy and cardiac failure may occur following chronic meth use and may cause the patients referred to the emergency department. Case reportsA 28-year old man and two women, ages 29 and 31-year-old, with a history of meth use, were admitted to the emergency department with severe dyspnea at rest. Each had sinus tachycardia with tachypnea and an echocardiogram that showed severe systolic dysfunction consistent with heart failure. Additional evaluation in the hospital revealed cardiomyopathy with no other etiology other than the meth use. Conclusion:There are several reports that show an increase in frequency of meth use, suggesting that cardiomyopathy and acute heart failure may be a new medical concern.

  17. Takotsubo or Stress Cardiomyopathy

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    J. P. Bounhoure

    2012-01-01

    Full Text Available Many case reports have been published of reversible left ventricular dysfunction precipitated by sudden emotional stress. We have evaluated 10 women hospitalized for acute chest pain and dyspnea, mimicking an acute coronary syndrome, after a severe emotional trigger. Those patients, postmenopausal women, presented ST segment alterations on the EKG, minor elevations of cardiac enzymes, and biomarkers levels. At the coronarography there was not coronary thrombosis or severe stenosis, but the ventriculography showed wall motion abnormalities involving the left ventricular apex and midventricle, in the absence of significant obstructive coronary disease. The course was benign without complication, with a full recovery of left ventricular function in some weeks. These observations, like other reports, demonstrate the impact of emotional stress on left ventricular function and the risk of cardiovascular disease. The cause of this cardiomyopathy is still unknown, and several mechanisms have been proposed: catecholamine myocardial damage, microvascular spasm, or neural mediated myocardial stunning.

  18. PERIPARTUM CARDIOMYOPATHY: A REVIEW

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    Rajat

    2016-05-01

    Full Text Available Peripartum Cardiomyopathy is a pregnancy associated rare but severe myocardial disease. The incidence of PPCM is about 1 in 3186 live births in United States. Causes include viral infections, toxins, environmental and geographic factors, familial predisposition, Hormonal abnormalities, haemodynamic burden of pregnancy, malnutrition, inflammation, etc. NT-proBNP, Cathepsin D, tyrosine kinase SFlt1 may be elevated and can be used as biomarkers to diagnose PPCM. Restriction of dietary sodium, beta-blockers, diuretics-thiazide and furosemide, in lowest possible doses can be given for symptomatic management. Prognosis of PPCM is positively related to the recovery of ventricular failure. Only about 50% women with PPCM recover baseline ventricular function within 6 months of delivery. Failure of heart size to return to normal is associated with increased mortality and morbidity. Future pregnancies are not recommended in patient with PPCM, as there is an increased risk for recurrence of PPCM in the subsequent pregnancy

  19. A Treatable Cause of Cardiomyopathy: Vitamin D Deficiency

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    Erdal Eren

    2015-08-01

    Full Text Available Dilated cardiomyopathy is an important cause of heart failure in children. Medical therapy rarely results in complete improvement of the disease, treatment of which usually requires transplantation. Herein, we present a patient with cardiomyopathy and rickets. Case report: A 3-month-old boy was referred to Pediatric Endocrinology Clinic due to low calcium level. On his physical examination, enlarged wrists and large anterior fontanel were remarkable. Results of laboratory analyses revealed a calcium level of 6.8 mg/dL, phosphorus level of 4.9 mg/dL, alkaline phosphatase level of 1637 U/L, parathyroid hormone level of 191.2 pg/ mL, and 25-hydroxyvitamin D level of 5.7 ng/mL. Hand-wrist radiograph revealed signs consistent with rickets. Echocardiogram revealed dilated left ventricle, hypokinetic myocardium, an ejection fraction of 42%, and fractional shortening by 20%. Oral calcium lactate was started and then vitamin D treatment was added. At the 3rd month of the therapy, laboratory tests completely returned to normal and signs of rickets disappeared. Echocardiogram findings returned to normal. Since cardiac functions began to improve after the therapy, dilated cardiomyopathy associated with vitamin D deficiency was considered. Vitamin D deficiency should be considered while evaluating dilated cardiomyopathy in the regions that are endemic for nutritional rickets and it should be kept in mind that the therapy may provide dramatic improvement

  20. Cerebral embolic stroke after disappearing takotsubo cardiomyopathy.

    Science.gov (United States)

    Matsuzono, Kosuke; Ikeda, Yoshio; Deguchi, Shoko; Yamashita, Toru; Kurata, Tomoko; Deguchi, Kentaro; Abe, Koji

    2013-11-01

    Takotsubo cardiomyopathy can induce cerebral embolic stroke because of intracardiac thrombosis, but the timing of cardiogenic embolism relating to takotsubo cardiomyopathy has not been well described. We evaluated a 71-year-old woman with takotsubo cardiomyopathy, who developed cardiogenic cerebral embolism after recovery of cardiac wall motion. Nevertheless, we treated her with anticoagulation therapy. The present clinical observation suggests that attention should be paid to the timing when takotsubo cardiomyopathy resolves against risk of cardiogenic cerebral embolism.

  1. [Levosimendan for septic shock with takotsubo cardiomyopathy].

    Science.gov (United States)

    Schlürmann, C-N; Reinöhl, J; Kalbhenn, J

    2016-01-01

    As a stress-induced disease, takotsubo cardiomyopathy can also occur in septic syndromes; however, the hemodynamic management is fundamentally different from the treatment approaches for classical septic cardiomyopathy, as beta mimetics can increase the heart failure symptoms in takotsubo cardiomyopathy. This article reports the case of an 82-year-old female patient who presented with acute abdomen due to adhesion ileus and takotsubo cardiomyopathy, developed severe septic shock with peritonitis and could be successfully hemodynamically stabilized with levosimendan.

  2. Takotsubo cardiomyopathy triggered by alcohol withdrawal.

    Science.gov (United States)

    Alexandre, Joakim; Benouda, Leila; Champ-Rigot, Laure; Labombarda, Fabien

    2011-07-01

    Takotsubo cardiomyopathy is a reversible cardiomyopathy frequently precipitated by a sudden emotional or physical stress. The exact physiopathology is still debated and may involve catecholamine-induced myocardial stunning. Alcohol withdrawal is associated with an hyperadrenergic state and may be a period at risk of cardiac events. We report a 56-year-old man with Takotsubo cardiomyopathy triggered by alcohol withdrawal.

  3. Biventricular Takotsubo cardiomyopathy in Graves hyperthyroidism.

    Science.gov (United States)

    Perkins, Matthew J; Schachter, David T

    2014-03-01

    Graves hyperthyroidism is commonly seen in clinical practice and Takotsubo stress cardiomyopathy is an increasingly recognized cardiac complication of physical or emotional stress. We report the rare case of a patient with Graves hyperthyroidism that was complicated by severe biventricular takotsubo cardiomyopathy, which was demonstrated on heart catheterization. After appropriate pharmacologic treatment of her hyperthyroidism, she had complete resolution of her cardiomyopathy.

  4. Takotsubo Cardiomyopathy in an Adult Woman With Repaired Tetralogy of Fallot.

    Science.gov (United States)

    Nguyen, Lan T; Schelbert, Erik B; Cook, Stephen C

    2016-05-01

    Takotsubo cardiomyopathy is a reversible form of cardiomyopathy rarely reported in the adult congenital patient. We describe a case of a 49-year-old woman with repaired tetralogy of Fallot who presented with acute dyspnea. A 12-lead electrocardiogram revealed diffuse anterolateral T-wave inversion suggestive of myocardial ischemia. Cardiac catheterization was performed, demonstrating angiographically normal coronary arteries. A cardiovascular magnetic resonance examination showed apical akinesis with associated myocardial edema, but no myocardial damage on late gadolinium enhancement imaging, which is a characteristic of Takotsubo cardiomyopathy. The patient was treated medically. A follow-up echocardiogram demonstrated normalization of left ventricular systolic function and apical wall motion abnormalities.

  5. Peripartum cardiomyopathy and dilated cardiomyopathy: different at heart

    Directory of Open Access Journals (Sweden)

    Ilse Anne Elise Bollen

    2015-01-01

    Full Text Available Peripartum cardiomyopathy (PPCM is a severe cardiac disease occurring in the last month of pregnancy or in the first 5 months after delivery and shows many similar clinical characteristics as dilated cardiomyopathy (DCM such as ventricle dilation and systolic dysfunction. While PPCM was believed to be DCM triggered by pregnancy, more and more studies show important differences between these diseases. While it is likely they share part of their pathogenesis such as increased oxidative stress and an impaired microvasculature, discrepancies seen in disease progression and outcome indicate there must be differences in pathogenesis as well. In this review, we compared studies in DCM and PPCM to search for overlapping and deviating disease etiology, pathogenesis and outcome in order to understand why these cardiomyopathies share similar clinical features but have different underlying pathologies.

  6. Mitochondrial Mechanisms in Septic Cardiomyopathy

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    María Cecilia Cimolai

    2015-08-01

    Full Text Available Sepsis is the manifestation of the immune and inflammatory response to infection that may ultimately result in multi organ failure. Despite the therapeutic strategies that have been used up to now, sepsis and septic shock remain a leading cause of death in critically ill patients. Myocardial dysfunction is a well-described complication of severe sepsis, also referred to as septic cardiomyopathy, which may progress to right and left ventricular pump failure. Many substances and mechanisms seem to be involved in myocardial dysfunction in sepsis, including toxins, cytokines, nitric oxide, complement activation, apoptosis and energy metabolic derangements. Nevertheless, the precise underlying molecular mechanisms as well as their significance in the pathogenesis of septic cardiomyopathy remain incompletely understood. A well-investigated abnormality in septic cardiomyopathy is mitochondrial dysfunction, which likely contributes to cardiac dysfunction by causing myocardial energy depletion. A number of mechanisms have been proposed to cause mitochondrial dysfunction in septic cardiomyopathy, although it remains controversially discussed whether some mechanisms impair mitochondrial function or serve to restore mitochondrial function. The purpose of this review is to discuss mitochondrial mechanisms that may causally contribute to mitochondrial dysfunction and/or may represent adaptive responses to mitochondrial dysfunction in septic cardiomyopathy.

  7. Cardiomyopathies in children

    Directory of Open Access Journals (Sweden)

    Young Mi Hong

    2013-02-01

    Full Text Available Cardiomyopathy (CMP is a heterogeneous disease caused by a functional abnormality of the cardiac muscle. CMP is of 2 major types, dilated and hypertrophic, and is further classified as either primary or secondary. Secondary CMP is caused by extrinsic factors, including infection, ischemia, hypertension, and metabolic disorders. Primary CMP is diagnosed when the extrinsic factors of secondary CMP are absent. Furthermore, the World Health Organization, American Heart Association, and European Cardiology Association have different systems for clinically classifying primary CMP. Primary CMP is rare and associated with a family history of the disease, implying that genetic factors might affect its incidence. In addition, the incidence of CMP varies widely according to patient ethnicity. Genetic testing plays an important role in the care of patients with CMP and their families because it confirms diagnosis, determines the appropriate care for the patient, and possibly affects patient prognosis. The diagnosis and genetic identification of CMP in patients’ families allow the possibility to identify novel genes that may lead to new treatments. This review focuses on the epidemiology, pathophysiology, diagnosis, and treatment of CMP, with the aim of providing pediatricians with insights that may be helpful in the early identification and management of idiopathic CMP in children.

  8. Discoveries in peripartum cardiomyopathy.

    Science.gov (United States)

    Fett, James D; Markham, David W

    2015-07-01

    The past decade has seen remarkable gains for outcomes in peripartum cardiomyopathy (PPCM), one of the leading causes of maternal mortality and morbidity in the USA and many other countries, including the high-incidence areas of Haiti and South Africa. This review article emphasizes the importance of continuing the process of increasing awareness of PPCM and presents details of this evolving picture, including important discoveries that point the way to full recovery for almost all PPCM subjects. In addition, new interventions will be highlighted, which may facilitate recovery. Numerous studies have demonstrated that when the diagnosis of PPCM is made with LVEF > 0.30, the probability is that recovery to LVEF ≥ 0.50 will occur in the overwhelming majority of subjects. PPCM patients diagnosed with severely depressed systolic function (LVEF < 0.30) and a remodeled left ventricle with greater dilatation (LVEDd ≥ 60mm) are least likely to reach the outcome recovery goals. These are the patients with the greatest need for newer interventional strategies.

  9. Genetic biomarkers in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Coats, Caroline J; Elliott, Perry M

    2013-08-01

    Hypertrophic cardiomyopathy is a common inherited heart muscle disorder associated with sudden cardiac death, arrhythmias and heart failure. Genetic mutations can be identified in approximately 60% of patients; these are commonest in genes that encode proteins of the cardiac sarcomere. Similar to other Mendelian diseases these mutations are characterized by incomplete penetrance and variable clinical expression. Our knowledge of this genetic diversity is rapidly evolving as high-throughput DNA sequencing technology is now used to characterize an individual patient's disease. In addition, the genomic basis of several multisystem diseases associated with a hypertrophic cardiomyopathy phenotype has been elucidated. Genetic biomarkers can be helpful in making an accurate diagnosis and in identifying relatives at risk of developing the condition. In the clinical setting, genetic testing and genetic screening should be used pragmatically with appropriate counseling. Here we review the current role of genetic biomarkers in hypertrophic cardiomyopathy, highlight recent progress in the field and discuss future challenges.

  10. An update on peripartum cardiomyopathy.

    Science.gov (United States)

    Dalzell, Jonathan R; Jackson, Colette E; Gardner, Roy S

    2011-09-01

    Peripartum cardiomyopathy is a rare but potentially devastating complication of pregnancy. Although the definition of this condition has recently been revised by the Heart Failure Association of the European Society of Cardiology, the pathogenesis of peripartum cardiomyopathy is not well understood and relatively little is known about its incidence and prevalence. Hence, peripartum cardiomyopathy is often under-recognized in the clinical setting. A heightened awareness of this condition and its current management options is therefore warranted throughout primary and secondary care. The identification of the putative role of prolactin in the development and progression of this condition has been recently discovered, with preclinical work suggesting beneficial effects of prolactin antagonism. In this article, we review the literature regarding this condition including these recent advances.

  11. Cocaine cardiomyopathy: A case report

    Directory of Open Access Journals (Sweden)

    Georgiev Antonio

    2014-12-01

    Full Text Available Cocaine is the second most common illicit drug used and the most frequent cause of drug related deaths. The use of cocaine is associated with both, acute and chronic complications, that may involve any system, but the most common system affected is cardiovascular one. Cocaine cardiomyopathy may result from the use of cocaine. This article presents a first case in Republic of Macedonia of 24-year-old male with reversible cocaine-related cardiomyopathy. Clinical presentation, laboratory, X-ray, ultrasound findings and treatment are reviewed.

  12. Peripartum cardiomyopathy: a contemporary review.

    Science.gov (United States)

    Shah, Tina; Ather, Sameer; Bavishi, Chirag; Bambhroliya, Arvind; Ma, Tony; Bozkurt, Biykem

    2013-01-01

    Peripartum cardiomyopathy is a rare and potentially fatal disease. Though approximately half of the patients recover, the clinical course is highly variable and some patients develop refractory heart failure and persistent left ventricular systolic dysfunction. It is diagnosed when women present with heart failure secondary to left ventricular systolic dysfunction towards the end of pregnancy or in the months following delivery, where no other cause of heart failure is found. Etiology remains unclear, and treatment is similar to other cardiomyopathies and includes evidence-based standard heart failure management strategies. Experimental strategies such as intravenous immunoglobulin and bromocriptine await further clinical validation.

  13. Risk of Cardiomyopathy in Younger Persons With a Family History of Death from Cardiomyopathy

    DEFF Research Database (Denmark)

    Ranthe, Mattis F; Carstensen, Lisbeth; Øyen, Nina;

    2015-01-01

    at the population level is unclear. In a nationwide cohort, we examined the risk of cardiomyopathy by family history of premature death (... ascertained family history of premature (death from cardiomyopathy or other conditions, and cohort members were followed from 1977 to 2008 for cardiomyopathy diagnosed at ... incidence rate ratios for cardiomyopathy by family history of premature death. Premature cardiomyopathy deaths in first- and second-degree relatives were associated with 29- and 6-fold increases in the rate of cardiomyopathy, respectively. If the first-degree relative died aged

  14. Multifactorial QT Interval Prolongation and Takotsubo Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Michael Gysel

    2014-01-01

    Full Text Available A 71-year-old woman collapsed while working as a grocery store cashier. CPR was performed and an AED revealed torsades de pointes (TdP. She was subsequently defibrillated resulting in restoration of sinus rhythm with a QTc interval of 544 msec. Further evaluation revealed a diagnosis of Takotsubo Cardiomyopathy (TCM contributing to the development of a multifactorial acquired long QT syndrome (LQTS. The case highlights the role of TCM as a cause of LQTS in the setting of multiple risk factors including old age, female gender, hypokalemia, and treatment with QT prolonging medications. It also highlights the multifactorial nature of acquired LQTS and lends support to growing evidence of an association with TCM.

  15. Genetic basis of hypertrophic cardiomyopathy

    NARCIS (Netherlands)

    Bos, J.M.

    2010-01-01

    The understanding of hypertrophic cardiomyopathy (HCM) has matured from its cornerstone as a disease of the sarcomere to a compendium of diseases with various clinical, genetic and morphologic substrates. Research has provided us more insights into i) the pathogenetic development of HCM, ii) the pos

  16. 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;

  17. Acute pulmonary edema caused by takotsubo cardiomyopathy in a pregnant woman undergoing transvaginal cervical cerclage

    Science.gov (United States)

    Lee, Jae-Young; Kwon, Hyun-Jung; Park, Sang-Wook; Lee, Yu-Mi

    2017-01-01

    Abstract Background: The physiological changes associated with pregnancy may predispose pregnant women to pulmonary edema. Other known causes of pulmonary edema during pregnancy include tocolytic drugs, preeclampsia, eclampsia, and peripartum cardiomyopathy. Methods: We describe a rare case of pulmonary edema caused by takotsubo cardiomyopathy in a pregnant woman at 14 weeks of gestation who was undergoing emergency transvaginal cervical cerclage. Results: Intraoperative chest radiography revealed severe pulmonary edema and echocardiography indicated moderate left ventricular dysfunction with akinesia of the mid to apical left ventricular wall segment, which is reflective of takotsubo cardiomyopathy. Conclusion: With early detection and appropriate management, the patient was stabilized in a relatively short period of time. Based on her clinical signs and symptoms, we suspect that the pulmonary edema was caused by takotsubo cardiomyopathy. PMID:28072695

  18. Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy

    DEFF Research Database (Denmark)

    Arndt, Anne-Karin; Schafer, Sebastian; Drenckhahn, Jorg-Detlef

    2013-01-01

    Deletion 1p36 syndrome is recognized as the most common terminal deletion syndrome. Here, we describe the loss of a gene within the deletion that is responsible for the cardiomyopathy associated with monosomy 1p36, and we confirm its role in nonsyndromic left ventricular noncompaction...... cardiomyopathy (LVNC) and dilated cardiomyopathy (DCM). With our own data and publically available data from array comparative genomic hybridization (aCGH), we identified a minimal deletion for the cardiomyopathy associated with 1p36del syndrome that included only the terminal 14 exons of the transcription...... of cardiomyocytes and also revealed evidence of impaired cardiomyocyte proliferative capacity. In conclusion, mutation of PRDM16 causes the cardiomyopathy in 1p36 deletion syndrome as well as a proportion of nonsyndromic LVNC and DCM....

  19. Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies.

    Science.gov (United States)

    Fish, Maryam; Shaboodien, Gasnat; Kraus, Sarah; Sliwa, Karen; Seidman, Christine E; Burke, Michael A; Crotti, Lia; Schwartz, Peter J; Mayosi, Bongani M

    2016-02-26

    Cardiomyopathy is an important cause of heart failure in Sub-Saharan Africa, accounting for up to 30% of adult heart failure hospitalisations. This high prevalence poses a challenge in societies without access to resources and interventions essential for disease management. Over 80 genes have been implicated as a cause of cardiomyopathy. Mutations in the phospholamban (PLN) gene are associated with dilated cardiomyopathy (DCM) and severe heart failure. In Africa, the prevalence of PLN mutations in cardiomyopathy patients is unknown. Our aim was to screen 315 patients with arrhythmogenic right ventricular cardiomyopathy (n = 111), DCM (n = 95), hypertrophic cardiomyopathy (n = 40) and peripartum cardiomyopathy (n = 69) for disease-causing PLN mutations by high resolution melt analysis and DNA sequencing. We detected the previously reported PLN c.25C > T (p.R9C) mutation in a South African family with severe autosomal dominant DCM. Haplotype analysis revealed that this mutation occurred against a different haplotype background to that of the original North American family and was therefore unlikely to have been inherited from a common ancestor. No other mutations in PLN were detected (mutation prevalence = 0.2%). We conclude that PLN is a rare cause of cardiomyopathy in African patients. The PLN p.R9C mutation is not well-tolerated, emphasising the importance of this gene in cardiac function.

  20. Secondary athrocytotic cardiomyopathy--heart damage due to Wilson's disease.

    Science.gov (United States)

    Kaduk, B; Metze, K; Schmidt, P F; Brandt, G

    1980-01-01

    Post-mortem atomic absorption spectrophotometry of the myocardium of a 14-year-old boy revealed a hundred-fold increase in copper. Further electrolyte analysis of the myocardium showed changes corresponding to metabolic heart muscle damage. Ultrastructural examination showed all the feature of a cardiomyopathy at the cellular level. Laser-Microprobe-Mass-Analysis demonstrated an inhomogeneous distribution of copper. An essential factor in the mechanism of death is heart damage.

  1. Keshan disease and mitochondrial cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    YANG Fuyu

    2006-01-01

    Keshan disease (KD) is a potentially fatal form of cardiomyopathy (disease of the heart muscle) endemic in certain areas of China. From 1984 to 1986, a national comprehensive scientific investigation on KD in Chuxiong region of Yunnan Province in the southwest China was conducted. The investigation team was composed of epidemiologists, clinic doctors, pathologists, biochemists, biophysicists and specialists in ecological environment. Results of pathological, biochemical and biophysical as well as clinical studies showed: an obvious increase of enlarged and swollen mitochondria with distended crista membranes in myocardium from patients with KD; significant reductions in the activity of oxidative phosphorylation (succinate dehydrogenase, cytochrome oxidase, succinate oxidase, H+-ATPase) of affected mitochondria; decrease in CoQ, cardiolipin, Se and GSHPx activity, while obvious increase in the Ca2+ content. So, it was suggested that mitochondria are the predominant target of the pathogenic factors of KD. Before Chuxiong KD survey only a few cases of mitochondrial cardiomyopathy were studied. During the multidisciplinary scientific investigation on KD in Chuxiong a large amount of samples from KD cases and the positive controls were examined. On the basis of the results obtained it was suggested that KD might be classified as a "Mitochondrial Cardiomyopathy" endemic in China. This is one of the achievements in the three years' survey in Chuxiong and is valuable not only to the deeper understanding of pathogenic mechanism of KD but also to the study of mitochondrial cardiomyopathy in general.Keshan disease is not a genetic disease, but is closely related to the malnutrition (especially microelement Se deficiency). KD occurs along a low Se belt, and Se supplementation has been effective in prevention of such disease. The incidence of KD has sharply decreased along with the steady raise of living standard and realization of preventive measures. At present, patients of

  2. Peripartum cardiomyopathy (A literature review

    Directory of Open Access Journals (Sweden)

    Farveh Vakilian

    2014-07-01

    Full Text Available Heart failure (HF is a serious and growing public health concern, which has many causes. Pregnancy is a critical condition with significant hemodynamic and immunologic changes. Peripartum cardiomyopathy (PPCM is a disease of unknown cause in which left ventricular (LV dysfunction occurs during the last trimester of pregnancy or the early puerperium. PPCM is known to be the most common cardiovascular cause of severe complications in pregnancy.  Risk factors for peripartum cardiomyopathy include advanced maternal age, twin pregnancy, smoking, pregnancy-related hypertension and preeclampsia, multiparity, African descent, and long-term tocolysis. Oxidative stress and some inflammatory markers have been diagnosed in PPCM pathophysiology. Recent observations have suggested that bromocriptine might favor recovery of LV systolic function in patients with PPCM. Patients developed peripartum cardiomiopathy treated with bromocriptine showed significantly improved LV ejection fraction and heart failure symptoms. This article tries to have a short review on this clinical scenario.

  3. Takotsubo cardiomyopathy: a historical note

    Institute of Scientific and Technical Information of China (English)

    2009-01-01

    @@ To the Editor: I read with interest the case report of Takotsubo cardiomyopathy in a Chinese woman.1 Unfortunately, the authors mistakenly attributed the original description of this syndrome to Tsuchihashi et al in 2001.2Actually Dote et al3 first described this syndrome in 1991, ten years before Tsuchihashi et al did.2 Incidentally, the authors did make a reference in their case report to the article by Dote et al3 which was cited as reference 1.

  4. Peripartum Cardiomyopathy Presenting as Bradycardia

    Science.gov (United States)

    Rose, Carl H.; Tweet, Marysia S.; Hayes, Sharonne N.; Best, Patricia J. M.; Blauwet, Lori A.

    2017-01-01

    Peripartum cardiomyopathy (PPCM) is a disease that typically affects young otherwise healthy women. As PPCM is associated with significant mortality, timely diagnosis is necessary to ensure appropriate care. To our knowledge, this represents the first reported case of PPCM presenting as symptomatic bradycardia. We describe the patient's clinical presentation and relevant findings and review the potential etiology and ramifications of bradycardia in patients with PPCM.

  5. Peripartum Cardiomyopathy: A Case Report

    Directory of Open Access Journals (Sweden)

    Afzal Azim

    2009-04-01

    Full Text Available Peripartum cardiomyopathy (PPCM is an uncommon but life threatening disease that affects women in the last month of pregnancy or within the first five months after delivery. Very few Indian case reports are available. However, it is essential for the practitioner dealing with such population to have a high degree of clinical suspicion for early diagnosis and management. Echocardiography is used to diagnose this entity and monitor the therapy.

  6. Peripartum Cardiomyopathy Presenting as Bradycardia

    Directory of Open Access Journals (Sweden)

    Elisabeth Codsi

    2017-01-01

    Full Text Available Peripartum cardiomyopathy (PPCM is a disease that typically affects young otherwise healthy women. As PPCM is associated with significant mortality, timely diagnosis is necessary to ensure appropriate care. To our knowledge, this represents the first reported case of PPCM presenting as symptomatic bradycardia. We describe the patient’s clinical presentation and relevant findings and review the potential etiology and ramifications of bradycardia in patients with PPCM.

  7. PERIPARTUM CARDIOMYOPATHY: A MANAGEMENT DILEMMA

    Directory of Open Access Journals (Sweden)

    Niranjan Kumar

    2014-07-01

    Full Text Available Peripartum cardiomyopathy (PPCM is a form of dilated cardiomyopathy of unclear etiology, affecting women without pre-existing cardiac diseases, during the last month of pregnancy or up to five postpartum months1 As with other form of dilated cardiomyopathies, PPCM involves the systolic dysfunction of the heart with a decrease in Left Ventricular Ejection Fraction (LVEF <40, associated with congestive heart failure and with an increased risk of supra ventricular or ventricular arrhythmias, thromboembolism and even sudden cardiac death. PPCM is diagnosed by exclusion, where the patient has no history of previous heart disease, coincides with the pregnancy period (one month pre-operative to five months post- operative, and where no other possible cause of heart failure present. Diagnosis of Peripartum cardiomyopathy is a dilemma for the obstetricians, physicians, cardiologists, and the general physicians, as most of these patients are hurriedly diagnosed and treated first as a case of Left Ventricular Failure (LVF of some cardiac origin. Specific treatment is started late or not at all. So, relapses are very common with the treatment line of Left Ventricular Failure of cardiac origin only without any specific treatment and no precautions taken, thereafter. Although the exact cause of PPCM is unknown, yet (a some cardio tropic virus (b immune system dysfunction8, (c genetic factors 1, (d deficiency of micro-nutrients or trace elements (e some cardio-toxins may serve as a trigger to malfunction of immune system that may be responsible in the development of PPCM. Recently two cases of PPCM were transferred to our ICU from the obstetrics and gynecology department immediately after deliveries for acute left ventricular failure in quick succession and were diagnosed as PPCM and successfully managed with Diuretic, ACE inhibitor, Beta blocker and Nitrates with mechanical ventilation. After discharge from the hospital they are being followed up and are put

  8. Determinants of Thyrotoxic Cardiomyopathy Recovery

    Directory of Open Access Journals (Sweden)

    Lucia Oliveros-Ruiz

    2013-01-01

    Full Text Available The purpose was to evaluate the effect of the disease duration prior to treatment, thyroid hormones level, or both on the reversibility of dilated cardiomyopathy. Between January 2006 and December 2010, a longitudinal study with a 6 months follow-up was carried on. One hundred and seventy patients with hyperthyroidism were referred to the cardiologist, and 127 had a 6 months followup after antithyroid treatment and were evaluated by echocardiography. Dilated cardiomyopathy reversibility criteria were established according to echocardiographic parameters. Complete reversibility existed when all parameters were met, partial reversibility when LVEF was ≥55% plus two or three other parameters, and no reversibility when LVEF was ≤55% regardless of other parameters. The results showed that echocardiography parameters related to the regression of myocardial mass were associated with a disease duration shorter than 10.38 months. This was the main predictive variable for reversal of dilated cardiomyopathy, followed by β-blocker treatment, and the last predictive variable was the serum level of free triiodothyronine. This study showed that the effect on the myocardium related to thyrotoxicosis was associated with the disease duration before treatment.

  9. Takotsubo cardiomyopathy in a Caucasian Italian woman: Case report

    Directory of Open Access Journals (Sweden)

    Castellani Debora

    2007-04-01

    Full Text Available Abstract Background Takotsubo cardiomyopathy is an acute cardiac syndrome characterized by transient LV regional wall motion abnormalities (with peculiar apical ballooning appearance, chest pain or dyspnea, ST-segment elevation and minor elevations of cardiac enzyme levels Case presentation A 68-year-old woman was admitted to the Emergency Department because of sudden onset chest pain occurred while transferring her daughter, who had earlier suffered a major seizure, to the hospital. The EKG showed sinus tachycardia with ST-segment elevation in leads V2–V3 and ST-segment depression in leads V5–V6, she was, thus, referred for emergency coronary angiography. A pre-procedural transthoracic echocardiogram revealed regional systolic dysfunction of the LV walls with hypokinesis of the mid-apical segments and hyperkinesis of the basal segments. Coronary angiography showed patent epicardial coronary arteries; LV angiography demonstrated the characteristic morphology of apical ballooning with hyperkinesis of the basal segments and hypokinesis of the mid-apical segments. The post-procedural course was uneventful; on day 5 after admission the echocardiogram revealed full recovery of apical and mid-ventricular regional wall-motion abnormalities. Conclusion Takotsubo cardiomyopathy is a relatively rare, unique entity that has only recently been widely appreciated. Acute stress has been indicated as a common trigger for the transient LV apical ballooning syndrome, especially in postmenopausal women. The present report is a typical example of stress-induced takotsubo cardiomyopathy in a Caucasian Italian postmenopausal woman.

  10. The pathogenesis of cardiomyopathy in Friedreich ataxia.

    Directory of Open Access Journals (Sweden)

    Arnulf H Koeppen

    Full Text Available Friedreich ataxia (FA is an autosomal recessive disease with a complex neurological phenotype, but the most common cause of death is heart failure. This study presents a systematic analysis of 15 fixed and 13 frozen archival autopsy tissues of FA hearts and 10 normal controls (8 frozen by measurement of cardiomyocyte hypertrophy; tissue frataxin assay; X-ray fluorescence (XRF of iron (Fe and zinc (Zn in polyethylene glycol-embedded samples of left and right ventricular walls (LVW, RVW and ventricular septum (VS; metal quantification in bulk digests by inductively-coupled plasma optical emission spectrometry (ICP-OES; Fe histochemistry; and immunohistochemistry and immunofluorescence of cytosolic and mitochondrial ferritins and of the inflammatory markers CD68 and hepcidin. FA cardiomyocytes were significantly larger than normal and surrounded by fibrotic endomysium. Frataxin in LVW was reduced to less than 15 ng/g wet weight (normal 235.4 ± 75.1 ng/g. All sections displayed characteristic Fe-reactive inclusions in cardiomyocytes, and XRF confirmed significant regional Fe accumulation in LVW and VS. In contrast, ICP-OES analysis of bulk extracts revealed normal total Fe levels in LVW, RVW, and VS. Cardiac Zn remained normal by XRF and assay of bulk digests. Cytosolic and mitochondrial ferritins exhibited extensive co-localization in cardiomyocytes, representing translational and transcriptional responses to Fe, respectively. Fe accumulation progressed from a few small granules to coarse aggregates in phagocytized cardiomyocytes. All cases met the "Dallas criteria" of myocarditis. Inflammatory cells contained CD68 and cytosolic ferritin, and most also expressed the Fe-regulatory hormone hepcidin. Inflammation is an important factor in the pathogenesis of FA cardiomyopathy but may be more evident in advanced stages of the disease. Hepcidin-induced failure of Fe export from macrophages is a likely contributory cause of damage to the heart in FA

  11. Recurrent takotsubo cardiomyopathy in a child.

    Science.gov (United States)

    Srivastava, Nayan T; Parent, John J; Hurwitz, Roger A

    2016-02-01

    Takotsubo cardiomyopathy or transient apical ballooning syndrome very rarely presents in children. In all patients with takotsubo, it is estimated that only 3.5% will have recurrence. In this study, we describe a case of recurrent takotsubo cardiomyopathy in a child, likely triggered by status epilepticus.

  12. Cardiomyopathy in becker muscular dystrophy:Overview

    Institute of Scientific and Technical Information of China (English)

    Rady Ho; My-Le Nguyen; Paul Mather

    2016-01-01

    Becker muscular dystrophy(BMD) is an X-linked recessive disorder involving mutations of the dystrophin gene. Cardiac involvement in BMD has been described and cardiomyopathy represents the number one cause of death in these patients. In this paper, the pathophysiology, clinical evaluations and management of cardiomyopathy in patients with BMD will be discussed.

  13. Peripartum cardiomyopathy : Euro Observational Research Program

    NARCIS (Netherlands)

    Hoes, M. F.; van Hagen, I.; Russo, F.; Van Veldhuisen, D. J.; Van den Berg, M. P.; Roos-Hesselink, J.; van Spaendonck-Zwarts, K. Y.; van der Meer, P.

    2014-01-01

    Peripartum cardiomyopathy is a rare but potentially life-threatening form of heart failure affecting women late in pregnancy or in the first months after delivery. Peripartum cardiomyopathy is difficult to diagnose and its onset and progression are variable between individuals. The pathophysiology r

  14. Takotsubo cardiomyopathy associated with severe hypothyroidism in an elderly female

    Directory of Open Access Journals (Sweden)

    Jorge A Brenes-Salazar

    2016-01-01

    Full Text Available Takotsubo cardiomyopathy, also known as stress cardiomyopathy, is a syndrome that affects predominantly postmenopausal women. Despite multiple described mechanisms, intense, neuroadrenergic myocardial stimulation appears to be the main trigger. Hyperthyroidism, but rarely hypothyroidism, has been described in association with Takotsubo cardiomyopathy. Herein, we present a case of stress cardiomyopathy in the setting of symptomatic hypothyroidism.

  15. PERIPARTUM CARDIOMYOPATHY--REPORT OF 16 CASES

    Institute of Scientific and Technical Information of China (English)

    杨佳欣; 刘俊涛; 边旭明

    2002-01-01

    Objective.To analyze the clinical characteristics of peripartum cardiomyopathy and to evaluate the different factors that influence the prognosis of the peripartum cardiomyopathy.Method.A retrospective review was undertaken on records of women who were diagnosed with peripartum cardiomyopathy at Peking Union Medical College Hospital between Jan.1983 and May 1999.Results.During the research period,only 16 pregnant women were documented as peripartum cardiomyopathy.Some of the women undertook ultrasonic cardiographic (UCG) examination that showed decreased systolic function.Seven women were complicated with pregnancy induced hypertension.Three died of disseminated intravascular coagulation,embolism and cardiogenic shock respectively.Conclusion.Early diagnosis of the peripartum cardiomyopathy is extremely important.The UCG can provide helpful information on disease progression or regression.

  16. Molecular profiling of dilated cardiomyopathy that progresses to heart failure

    Science.gov (United States)

    Burke, Michael A.; Chang, Stephen; Wakimoto, Hiroko; Gorham, Joshua M.; Conner, David A.; Christodoulou, Danos C.; Parfenov, Michael G.; DePalma, Steve R.; Eminaga, Seda; Konno, Tetsuo; Seidman, Jonathan G.; Seidman, Christine E.

    2016-01-01

    Dilated cardiomyopathy (DCM) is defined by progressive functional and structural changes. We performed RNA-seq at different stages of disease to define molecular signaling in the progression from pre-DCM hearts to DCM and overt heart failure (HF) using a genetic model of DCM (phospholamban missense mutation, PLNR9C/+). Pre-DCM hearts were phenotypically normal yet displayed proliferation of nonmyocytes (59% relative increase vs. WT, P = 8 × 10–4) and activation of proinflammatory signaling with notable cardiomyocyte-specific induction of a subset of profibrotic cytokines including TGFβ2 and TGFβ3. These changes progressed through DCM and HF, resulting in substantial fibrosis (17.6% of left ventricle [LV] vs. WT, P = 6 × 10–33). Cardiomyocytes displayed a marked shift in metabolic gene transcription: downregulation of aerobic respiration and subsequent upregulation of glucose utilization, changes coincident with attenuated expression of PPARα and PPARγ coactivators -1α (PGC1α) and -1β, and increased expression of the metabolic regulator T-box transcription factor 15 (Tbx15). Comparing DCM transcriptional profiles with those in hypertrophic cardiomyopathy (HCM) revealed similar and distinct molecular mechanisms. Our data suggest that cardiomyocyte-specific cytokine expression, early fibroblast activation, and the shift in metabolic gene expression are hallmarks of cardiomyopathy progression. Notably, key components of these profibrotic and metabolic networks were disease specific and distinguish DCM from HCM. PMID:27239561

  17. Tachycardia-Induced Cardiomyopathy in a 12-Year-Old Child With Long QT Syndrome

    Directory of Open Access Journals (Sweden)

    Ghandi

    2016-05-01

    Full Text Available Introduction Tachycardia-induced cardiomyopathy (TIC is a ventricular dysfunction secondary to chronic and persistent tachycardia that can regress partially or completely following heart rate normalization. Paroxysmal atrial tachycardia and permanent junctional reciprocating tachycardia are two types of frequent arrhythmias that can cause cardiomyopathy in children. Case Presentation A 12-year-old child with obesity (body mass index > 26.8 was admitted with fatigue, pallor and tachypnea to the clinic. He had palpitation for the past 24 hours. On the cardiac auscultation, holosystolic 2/6 murmur was heard in the apex as well as gallop rhythm. Electrocardiogram revealed heart rate of 150 - 160 bpm and negative P waves in II, III and AVF leads. The echocardiography revealed dilated cardiomyopathy with an ejection fraction of 30%. Conclusions Diagnosis of tachycardia-induced cardiomyopathy in children is important, since appropriate treatment improves the prognosis. Every child with recurrent and persistent palpitation with the first episode of congestive heart failure should be evaluated for tachycardia- induced cardiomyopathy.

  18. Improving outcomes in peripartum cardiomyopathy.

    Science.gov (United States)

    Dalzell, Jonathan R; Cannon, Jane A; Simpson, Joanne; Gardner, Roy S; Petrie, Mark C

    2015-06-01

    Peripartum cardiomyopathy (PPCM) is a rare condition with a diverse spectrum of potential outcomes, ranging from frequent complete recovery to fulminant heart failure and death. The pathogenesis of PPCM is not well understood, and relatively little is known about its incidence and prevalence. PPCM is often under-recognised in the clinical setting. Early investigation and diagnosis with subsequent expert management may improve outcomes. The development of registries will allow this condition to be better characterised and may help answer crucial questions regarding its optimal medical and surgical management. This paper reviews the potential approaches to improve outcomes in patients with PPCM.

  19. PERIPARTUM CARDIOMYOPATHY: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Sowjanya

    2015-04-01

    Full Text Available Peripartum cardiomyopathy (PPCM is a rare form of heart failure with a reported Incidence of 1 per3000 to 1 per 4000 live births and a fatality rate of 20 – 50%.Onset is usually between the last month of pregnancy and up to 5 months postpartum in previously healthy women. Although viral autoimmune and idiopathic factors may be contributory , its eti ology remains unknown. PPCM is usually presents with signs and symptoms of congestive heart failure. Early diagnosis is important and effective treatment reduces mortality rates and increases the chance of complete recovery of ventricular systolic functio n.

  20. Peripartum Cardiomyopathy: A Current Review

    Directory of Open Access Journals (Sweden)

    Katie M. Twomley

    2010-01-01

    Full Text Available Peripartum cardiomyopathy (PPCM is a rare but potentially lethal complication of pregnancy occurring in approximately 1 : 3,000 live births in the United States although some series report a much higher incidence. African-American women are particularly at risk. Diagnosis requires symptoms of heart failure in the last month of pregnancy or within five months of delivery in the absence of recognized cardiac disease prior to pregnancy as well as objective evidence of left ventricular systolic dysfunction. This paper provides an updated, comprehensive review of PPCM, including emerging insights into the etiology of this disorder as well as current treatment options.

  1. Takotsubo cardiomyopathy associated with Miller-Fisher syndrome.

    Science.gov (United States)

    Gill, Dalvir; Liu, Kan

    2016-12-22

    51-year-old female who presented with progressive paresthesia, numbness of the lower extremities, double vision, and trouble walking. Physical exam was remarkable for areflexia, and ptosis. Her initial EKG showed nonspecific ST segment changes and her Troponin T was elevated to 0.41ng/mL which peaked at 0.66ng/mL. Echocardiogram showed a depressed left ventricular ejection fraction to 35% with severely hypokinetic anterior wall and left ventricular apex was severely hypokinetic. EMG nerve conduction study showed severely decreased conduction velocity and prolonged distal latency in all nerves consistent with demyelinating disease. She was treated with 5days of intravenous immunoglobulin therapy to which she showed significant improvement in strength in her lower extremities. Echocardiogram repeated 4days later showing an improved left ventricular ejection fraction of 55% and no left ventricular wall motion abnormalities. Takotsubo cardiomyopathy is a rare complication of Miller-Fisher syndrome and literature review did not reveal any cases. Miller-Fisher syndrome is an autoimmune process that affects the peripheral nervous system causing autonomic dysfunction which may involve the heart. Due to significant autonomic dysfunction in Miller-Fisher syndrome, it could lead to arrhythmias, blood pressure changes, acute coronary syndrome and myocarditis, Takotsubo cardiomyopathy can be difficult to distinguish. The treatment of Takotsubo cardiomyopathy is supportive with beta-blockers and angiotensin-converting enzyme inhibitors are recommended until left ventricle ejection fraction improvement. Takotsubo cardiomyopathy is a rare complication during the acute phase of Miller-Fisher syndrome and must be distinguished from autonomic dysfunction as both diagnoses have different approaches to treatment.

  2. Stress cardiomyopathy in a patient with hypertrophic cardiomyopathy and myocardial bridging

    Science.gov (United States)

    Benavides, Miguel; Vinardell, Juan M; Arenas, Ivan; Santana, Orlando

    2017-01-01

    Stress cardiomyopathy is an acquired cardiomyopathy of unknown aetiology. It usually occurs in women over the age of 70 who have experienced physical or emotional stress. It is most commonly characterised by a transient, left ventricular systolic dysfunction in the apical portion and hyperkinesia in the basal segments, without obstructive coronary artery disease. Its association with obstructive hypertrophic cardiomyopathy and myocardial bridging is rare. Herein, we present such a case. PMID:28228389

  3. Evolutionary change mimicking apical hypertrophic cardiomyopathy in a patient with takotsubo cardiomyopathy.

    Science.gov (United States)

    Hwang, Hui-Jeong; Lee, Hyae-Min; Yang, In-Ho; Kim, Dong-Hee; Byun, Jong-Kyu; Sohn, Il Suk

    2014-11-01

    In this report, we introduce a case of thickening of the involved left ventricular apical segment on echocardiography and deep T-wave inversions in precordial leads on electrocardiography transiently seen in the course of recovery from biventricular takotsubo cardiomyopathy, mimicking apical hypertrophic cardiomyopathy. This result suggests that the echocardiographic finding of transient myocardial edema can be identified by cardiac magnetic resonance imaging in takotsubo cardiomyopathy. Additionally, it persisted a few weeks after full functional recovery. We believe that this case will contribute in part toward clarifying the pathophysiology of takotsubo cardiomyopathy.

  4. New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

    DEFF Research Database (Denmark)

    Andreasen, Charlotte Hartig; Nielsen, Jonas B; Refsgaard, Lena;

    2013-01-01

    with these cardiomyopathies, but the disease-causing effect of reported variants is often dubious. In order to identify possible false-positive variants, we investigated the prevalence of previously reported cardiomyopathy-associated variants in recently published exome data. We searched for reported missense and nonsense....... These findings correspond to a genotype prevalence of 1:4 for HCM, 1:6 for DCM, and 1:5 for ARVC. PolyPhen-2 predictions were conducted on all previously published cardiomyopathy-associated missense variants. We found significant overrepresentation of variants predicted as being benign among those present in ESP...... compared with the ones not present. In order to validate our findings, seven variants associated with cardiomyopathy were genotyped in a control population and this revealed frequencies comparable with the ones found in ESP. In conclusion, we identified genotype prevalences up to more than one thousand...

  5. Importance of genetic evaluation and testing in pediatric cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    Muhammad; Tariq; Stephanie; M; Ware

    2014-01-01

    Pediatric cardiomyopathies are clinically heterogeneous heart muscle disorders that are responsible for significant morbidity and mortality. Phenotypes include hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, left ventricular noncompaction and arrhythmogenic right ventricular cardiomyopathy. There is substantial evidence for a genetic contribution to pediatric cardiomyopathy. To date, more than 100 genes have been implicated in cardiomyopathy, but comprehensive genetic diagnosis has been problematic because of the large number of genes, the private nature of mutations, and difficulties in interpreting novel rare variants. This review will focus on current knowledge on the genetic etiologies of pediatric cardiomyopathy and their diagnostic relevance in clinical settings. Recent developments in sequencing technologies are greatly impacting the pace of gene discovery and clinical diagnosis. Understanding the genetic basis for pediatric cardiomyopathy and establishing genotypephenotype correlations may help delineate the molecular and cellular events necessary to identify potential novel therapeutic targets for heart muscle dysfunction in children.

  6. Takotsubo Cardiomyopathy in the Setting of Immersion Pulmonary Edema: Case Series

    Science.gov (United States)

    Sorrentino, Dante; Azuma, Steven

    2015-01-01

    Immersion Pulmonary Edema is a unique medical condition being increasingly described in the medical literature as sudden-onset pulmonary edema in the setting of scuba diving and or swimming. Case reports have associated immersion pulmonary edema with cardiac dysfunction, but there are no known case reports describing submersion pulmonary edema resulting in Takotsubo cardiomyopathy. We report on three patients with unique presentations of immersion pulmonary edema with associated Takotsubo cardiomyopathy. All three cases occurred in O‘ahu, Hawai‘i and were seen by the same cardiologist within a span of seven years. Each patient was scuba diving with sudden dyspnea with pulmonary edema on chest X-ray. Cardiac catheterization revealed no significant epicardial stenosis. Wall motion abnormalities resolved. EKG's showed typical evolution of symmetric T wave inversion. Immersion pulmonary edema and Takotsubo cardiomyopathy may occur together and may be more common than initially thought. Dyspnea has been long known to be stressful as in “waterboarding.” Stressful events are known to trigger Takotsubo cardiomyopathy. Takotsubo cardiomyopathy should be considered as a possible complication of immersion pulmonary edema and EKG's, troponins, echocardiogram and in the appropriate situation cardiac catheterization should be considered.

  7. Two pediatric cases of variant neurogenic stress cardiomyopathy after intracranial hemorrhage.

    Science.gov (United States)

    Wittekind, Samuel G; Yanay, Ofer; Johnson, Erin M; Gibbons, Edward F

    2014-10-01

    Takotsubo cardiomyopathy, also known as stress-induced cardiomyopathy, is an acquired form of left ventricular systolic dysfunction seen in the setting of physiologic stress and the absence of coronary artery disease. It is thought to be caused by excessive sympathetic stimulation. It is well described in the adult literature associated with subarachnoid hemorrhage where it is known as neurogenic stress cardiomyopathy (NSC), but few such pediatric cases have been reported. We describe our experience with 2 children (13- and 10-year-old girls) who presented with spontaneous intracranial hemorrhage followed by pulmonary edema and shock. Echocardiography revealed similar patterns of left ventricular wall motion abnormalities consistent with NSC, inverted Takotsubo variant. One child progressed to death, whereas the other made a remarkable recovery, including significant improvement in cardiac function over the course of 1 week. We argue that at least 1 of these cases represents true stress-induced cardiomyopathy. This report will alert pediatricians to this transient cardiomyopathy that is likely underdiagnosed in pediatric intensive care. We also highlight the challenges of managing both shock and elevated intracranial pressure in the setting of NSC.

  8. Near-drowning syndrome: a possible trigger of tako-tsubo cardiomyopathy.

    Science.gov (United States)

    Citro, Rudolfo; Patella, Marco Mariano; Bossone, Eduardo; Maione, AntonGiulio; Provenza, Gennaro; Gregorio, Giovanni

    2008-05-01

    We report a case of transient tako-tsubo cardiomyopathy characterized by an unusual trigger in a woman victim of near-drowning syndrome. After 24 h, electrocardiogram changes and a typical echocardiographic pattern of apical ballooning with a mild increase of serum troponin level induced the suspicion of tako-tsubo cardiomyopathy despite the absence of chest pain. Left ventriculography confirmed the apical ballooning, and coronary angiography revealed normal coronary arteries. Electrocardiogram changes and apical contraction abnormalities were reversed within 1 month. In conclusion, we hypothesize that hypoxemia related to near-drowning syndrome could have induced transient myocardial dysfunction mediated by a sympathetic nerve activation.

  9. Mid-ventricular hypertrophic obstructive cardiomyopathy (MVHOCM)complicated with coronary artery disease: a case report

    Institute of Scientific and Technical Information of China (English)

    Haoming Song; Cuimei Zhao; Jinfa Jiang; Yang Liu; Yihan Chen

    2008-01-01

    Mid-ventricular hypertrophic obstructive cardiomyopathy (MVHOCM) is a rare type of cardiomyopathy thatcan be accompanied by apical aneurysm.We presented here a case report of MVHOCM with cornary artery disease.The sixty-fouryears old man was sent to hospital because of ventricular tachycardia.Large inversion T wave was showed on electrocardiography in the presence of abnormal coronary arteries and normal cardiac enzyme.Echoeardiogmphy showed an hourglass appearance of the leftventricle with an aneurysm in the apex and a pressure gradient between the outflow tract of left ventricle and the middle of the leftventricle was revealed by left-heart catheterization.

  10. [Ventricular tachyarrhythmias in patients with cardiomyopathy

    DEFF Research Database (Denmark)

    Henningsen, K.; Christensen, A.H.; Svendsen, Jesper Hastrup

    2008-01-01

    of patients discharged with the diagnostic codes ventricular tachycardia, ventricular fibrillation or premature ventricular contractions with cardiomyopathy as the presumed aetiology. Patients discharged during a period of 6 years and 5 months were included in the study. The patients were characterized......INTRODUCTION: The purpose of this study was to determine the number and distribution of cardiomyopathies as the aetiology of ventricular tachyarrhythmias among patients discharged from the Department of Cardiology, Rigshospitalet. MATERIALS AND METHODS: The study was a retrospective review......), 57 (45%) patients had arrhythmogenic right ventricular cardiomyopathy (ARVC) and 13 (10%) had hypertrophic cardiomyopathy (HCM). The average age was 44 years for HCM, 41 years for ARVC and 58 years for DCM. The majority of the patients were male. ICD treatment was used in 95% of the patients...

  11. Genetics Home Reference: arrhythmogenic right ventricular cardiomyopathy

    Science.gov (United States)

    ... with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression. Circulation. 2007 Apr ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  12. Genetics Home Reference: familial hypertrophic cardiomyopathy

    Science.gov (United States)

    ... PubMed Ho CY. New Paradigms in Hypertrophic Cardiomyopathy: Insights from Genetics. Prog Pediatr Cardiol. 2011 May;31( ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  13. Genetics Home Reference: familial restrictive cardiomyopathy

    Science.gov (United States)

    ... AV. Malignant and benign mutations in familial cardiomyopathies: insights into mutations linked to complex cardiovascular phenotypes. J ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  14. Echocardiographic differences between preeclampsia and peripartum cardiomyopathy.

    Science.gov (United States)

    Dennis, A T; Castro, J M

    2014-08-01

    Peripartum heart failure due to preeclampsia or peripartum cardiomyopathy represents a significant global health issue. Transthoracic echocardiography enables differentiation of heart failure with preserved ejection fraction, commonly observed in women with preeclampsia, from that with peripartum cardiomyopathy in which a reduced ejection fraction is more common. An understanding of the different definitions and diagnostic features of these two diseases, as well as accurate characterisation of the haemodynamics in preeclampsia and peripartum cardiomyopathy, allows clinicians to manage these conditions appropriately. This article outlines the echocardiographic differences between preeclampsia and peripartum cardiomyopathy, the likely mechanisms for heart failure in preeclampsia and the relevance of these differences to clinicians in relation to prevention and treatment. It also emphasises the importance of disease definitions as a key framework for the more consistent classification of the two diseases.

  15. 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.)

  16. Takotsubo cardiomyopathy in a patient with esophageal cancer: a case report

    Directory of Open Access Journals (Sweden)

    Gangadhar Tara C

    2008-12-01

    Full Text Available Abstract Introduction Takotsubo cardiomyopathy has increasingly been reported in the medical literature in recent years. Much is still unknown regarding risk factors and clinical relationships. We contribute this case report to the growing set of literature on the topic. Case presentation We report the case of a 64-year-old woman with esophageal cancer who developed takotsubo cardiomyopathy, a form of reversible heart failure, and we present a review of the literature. Patients present with symptoms similar to an acute coronary syndrome; however, cardiac catheterization reveals patent coronary arteries, and symptoms of heart failure resolve completely within weeks. Conclusion It is important that clinicians consider takotsubo cardiomyopathy in the differential diagnosis of heart failure and gain a basic understanding of the clinical presentation and diagnosis.

  17. [Clinical case of the month. Cardiac complications of acromegaly: a rare cause of dilated cardiomyopathy].

    Science.gov (United States)

    Devoitille, A; Beckers, A; Piérard, L A

    2012-04-01

    Acromegaly is a disease characterized by chronic growth hormone hypersecretion. Cardiovascular complications represent the main cause of death. We present here a rare case of dilated cardiomyopathy whose diagnosis revealed an acromegaly. This will provide the opportunity to review an uncommon disease and its recently reassessed prevalence.

  18. Atherosclerosis and ischemic cardiomyopathy in a captive, adult red-tailed hawk (Buteo jamaicensis).

    Science.gov (United States)

    Shrubsole-Cockwill, Alana; Wojnarowicz, Chris; Parker, Dennilyn

    2008-09-01

    An adult, male, captive red-tailed hawk (Buteo jamaicensis) of at least 19 years of age presented in dorsal recumbency. The hawk was nonresponsive, and despite initial supportive care, died shortly after presentation. Gross postmortem revealed no abnormal findings. Histologic examination demonstrated atherosclerosis and ischemic cardiomyopathy. This is the first reported case of atherosclerosis in a red-tailed hawk.

  19. Takotsubo Cardiomyopathy: A New Perspective in Asthma

    Directory of Open Access Journals (Sweden)

    Fady Y. Marmoush

    2015-01-01

    Full Text Available Takotsubo cardiomyopathy (TCM is an entity of reversible cardiomyopathy known for its association with physical or emotional stress and may mimic myocardial infarction. We report an exceedingly rare case of albuterol-induced TCM with moderate asthma exacerbation. An interesting association that may help in understanding the etiology of TCM in the asthmatic population. Although the prognosis of TCM is excellent, it is crucial to recognize beta agonists as a potential stressor.

  20. Mechanical aberrations in hypetrophic cardiomyopathy: emerging concepts.

    Directory of Open Access Journals (Sweden)

    Dimitrios eNtelios

    2015-08-01

    Full Text Available Hypertrophic cardiomyopathy is the most common monogenic disorder in cardiology. Despite important advances in understanding disease pathogenesis, it is not clear how flaws in individual sarcomere components are responsible for the observed phenotype. The aim of this article is to provide a brief interpretative analysis of some currently proposed pathophysiological mechanisms of hypertrophic cardiomyopathy, with a special emphasis on alterations in the cardiac mechanical properties.

  1. Ventricular fibrillation following autologous intramyocardial cell therapy for inherited cardiomyopathy.

    Science.gov (United States)

    Pytel, Peter; Husain, Aliya; Moskowitz, Ivan; Raman, Jai; MacLeod, Heather; Anderson, Allen S; Burke, Martin; McNally, Elizabeth M

    2010-01-01

    A 41-year-old male with cardiomyopathy from an inherited beta myosin heavy-chain mutation underwent treatment for heart failure with intramyocardial cell transplantation. He received direct injections into his heart of autologous precursor cells isolated from his blood. He immediately suffered ventricular fibrillation. Although he was resuscitated, he experienced a prolonged downward course that prohibited his undergoing transplantation. His autopsy revealed marked fibrosis throughout the myocardium with areas of mononuclear cell infiltrate. This case highlights the potential adverse effects associated with intramyocardial therapy in the cardiomyopathic heart.

  2. Ventricular fibrillation following autologous intramyocardial cell therapy for inherited cardiomyopathy

    Science.gov (United States)

    Pytel, Peter; Husain, Aliya; Moskowitz, Ivan; Raman, Jai; MacLeod, Heather; Anderson, Allen S.; Burke, Martin; McNally, Elizabeth M.

    2010-01-01

    A 41 year old male with cardiomyopathy from an inherited β myosin heavy chain mutation underwent treatment for heart failure with intramyocardial cell transplantation. He received direct injections into his heart of autologous precursor cells isolated from his blood. He immediately suffered ventricular fibrillation. Although he was resuscitated, he experienced a prolonged downward course that prohibited his undergoing transplantation. His autopsy revealed marked fibrosis throughout the myocardium with areas of mononuclear cell infiltrate. This case highlights the potential adverse effects associated with intramyocardial therapy in the cardiomyopathic heart. PMID:19026577

  3. Influenza Induced Cardiomyopathy: An Unusual Cause of Hypoxemia

    Directory of Open Access Journals (Sweden)

    Abdullah Quddus

    2015-01-01

    Full Text Available Influenza has considerable burden on public health funds. The complications of influenza can be devastating. We present a case of a 42-year-old woman with history of asthma who presented to the emergency room in winter with shortness of breath and general malaise and was found to be in hypoxemic respiratory failure. She was diagnosed with influenza and workup revealed severely depressed systolic cardiac function (ejection fraction of 25%. She was treated with oseltamivir and diuresis and regained cardiac function within a week. We review the pathophysiology and management of influenza induced cardiomyopathy.

  4. RATIONAL PHARMACOTHERAPY IN TAKOTSUBO CARDIOMYOPATHY

    Directory of Open Access Journals (Sweden)

    S. Marchev

    2012-01-01

    Full Text Available Rational pharmacotherapy in Takotsubo cardiomyopathy is based on clinical picture and data of functional and laboratory investigations of concrete patient. In patients with hypotension and moderate-to-severe left ventricle outflow tract obstruction inotropic agents must not to be used because they can worsen the degree of obstruction. In these patients beta blockers can improve hemodynamics by causing resolution of the obstruction. If intraventricular thrombus is detected, anticoagulation for at least 3 months is recommended. The duration of anticoagulant therapy may be modified depending on the extent of cardiac function recovery and thrombus resolution. For patients without thrombus but with severe left ventricular dysfunction, anticoagulation is recommended until the akinesis or dyskinesis has resolved but not more than 3 months.

  5. [Peripartum cardiomyopathy: A multiple entity].

    Science.gov (United States)

    Vanzetto, Gérald; Martin, Alix; Bouvaist, Hélène; Marlière, Stéphanie; Durand, Michel; Chavanon, Olivier

    2012-06-01

    Peripartum cardiomyopathy (PPCMP) is a dilated and hypokinetic cardiomyopathy occurring during pregnancy or after delivery, with an estimated incidence between 1/1000 and 1/4000 births. It has been defined as a new onset of heart failure in the month preceding or following delivery, without demonstrated aetiology nor previously known heart disease, and with echocardiographic evidences of left ventricular (LV) dysfunction (LV ejection fraction<0.45). It's a multifactorial disease, immunologic, hormonal, and possibly viral mechanisms playing a determinant pathophysiological role. The classical clinical presentation is a rapid and unexpected onset of heart failure in a previously healthy woman, echocardiography being the key examination for positive and differential diagnosis, prognostication, therapeutic decision-making, and follow-up. The potential severity of PPCMP, and its unpredictable evolution in the first days following diagnosis, require that patients be referred to a tertiary care centre with a high skill in intensive cardiology care. Therapeutic management of PPCMP does not offer any specificity when compared to other causes of acute or chronic heart failure (from diuretics to extracorporeal life support), except for ACE-inhibitors, that are contraindicated before delivery. The high incidence of thrombo-embolic complications observed in the disease requires however rapid and curative anticoagulation, and immuno-suppressive treatment has been proposed in fulminant and highly inflammatory presentation, but its efficacy remains controversial. Very recently, promising results have been reported with bromocriptin-a prolactin secretion inhibitor-for reducing 6-month morbidity and mortality, but these findings have to be confirmed in larger scale randomised trials. As for the long-term evolution, approximately half of the patients will heal, while half of the women will keep some degree of LV dysfunction, 25% of them developing moderate to severe chronic heart

  6. Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy

    NARCIS (Netherlands)

    van Spaendonck-Zwarts, Karin Y.; Posafalvi, Anna; van den Berg, Maarten P.; Hilfiker-Kleiner, Denise; Bollen, Ilse A. E.; Sliwa, Karen; Alders, Marielle; AlMomani, Rowida; van Langen, Irene M.; van der Meer, Peter; Sinke, Richard J.; van der Velden, Jolanda; Van Veldhuisen, Dirk J.; van Tintelen, J. Peter; Jongbloed, Jan D. H.

    2014-01-01

    Aim Peripartum cardiomyopathy (PPCM) can be an initial manifestation of familial dilated cardiomyopathy (DCM). We aimed to identify mutations in families that could underlie their PPCM and DCM. Methods and results We collected 18 families with PPCM and DCM cases from various countries. We studied th

  7. Cardiomyopathy

    Science.gov (United States)

    ... Textbook of Cardiovascular Medicine . 10th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 65. McKenna WJ, Elliott P. ... eds. Goldman's Cecil Medicine . 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 60. McMurray JJV, Pfeffer MA. ...

  8. Cardiomyopathy

    Science.gov (United States)

    ... Kawasaki Disease Long Q-T Syndrome Marfan Syndrome Metabolic Syndrome Mitral Valve Prolapse Myocardial Bridge Myocarditis Obstructive Sleep Apnea Pericarditis Peripheral Vascular Disease Rheumatic Fever Sick Sinus Syndrome Silent Ischemia Stroke Sudden ...

  9. Simultaneous interstitial pneumonitis and cardiomyopathy induced by venlafaxine

    Directory of Open Access Journals (Sweden)

    Pedro Gonçalo Ferreira

    2014-06-01

    Full Text Available Venlafaxine is a serotonin-norepinephrine reuptake inhibitor used as an antidepressant. Interindividual variability and herb-drug interactions can lead to drug-induced toxicity. We report the case of a 35-year-old female patient diagnosed with synchronous pneumonitis and acute cardiomyopathy attributed to venlafaxine. The patient sought medical attention due to dyspnea and dry cough that started three months after initiating treatment with venlafaxine for depression. The patient was concomitantly taking Centella asiatica and Fucus vesiculosus as phytotherapeutic agents. Chest CT angiography and chest X-ray revealed parenchymal lung disease (diffuse micronodules and focal ground-glass opacities and simultaneous dilated cardiomyopathy. Ecocardiography revealed a left ventricular ejection fraction (LVEF of 21%. A thorough investigation was carried out, including BAL, imaging studies, autoimmune testing, right heart catheterization, and myocardial biopsy. After excluding other etiologies and applying the Naranjo Adverse Drug Reaction Probability Scale, a diagnosis of synchronous pneumonitis/cardiomyopathy associated with venlafaxine was assumed. The herbal supplements taken by the patient have a known potential to inhibit cytochrome P450 enzyme complex, which is responsible for the metabolization of venlafaxine. After venlafaxine discontinuation, there was rapid improvement, with regression of the radiological abnormalities and normalization of the LVEF. This was an important case of drug-induced cardiopulmonary toxicity. The circumstantial intake of inhibitors of the CYP2D6 isoenzyme and the presence of a CYP2D6 slow metabolism phenotype might have resulted in the toxic accumulation of venlafaxine and the subsequent clinical manifestations. Here, we also discuss why macrophage-dominant phospholipidosis was the most likely mechanism of toxicity in this case.

  10. Left Ventricular Non-compaction Cardiomyopathy - A Case Report

    Directory of Open Access Journals (Sweden)

    Timea Szakacs Xantus

    2015-06-01

    Full Text Available Background: Left non-compaction cardiomyopathy (LVNC or “spongy myocardium” is a relatively rare primary genetic cardiomyopathy, characterized by prominent wall trabeculations and intertrabecular recesses which communicate with the ventricular cavity. It appears in isolated form or coexists with other congenital heart diseases and/or systemic abnormalities. Material and method: A 28-year-old woman was admitted with exertional dyspnoea, palpitations, non-specific chest pain and progressive fatigue on exertion. In her family history sudden cardiac-related deaths at young age are present. Cardiovascular system examination revealed tachycardia, intermittent extrabeats. The rest EKG showed sinusal tachycardia (105 bpm, negative T-waves in DII, DIII, aVF, V4-V6. Consecutive 24 hours Holter EKG monitoring revealed nonsustained ventricular tachycardia, paroxysmal atrial fibrillation, isolated ventricular extrasystoles. Echocardiography showed left ventricular systolic dysfunction (LVEF:30-35%, slight LV enlargement, normal right ventricle and small left ventricle (LV trabeculae in the apical area. Cardiac MRI demonstrated dilated LV and the presence of the trabeculations of LV walls suggestive for non-compaction cardiomyopathy. A combined treatment for heart failure and cardiac arrhythmias was initiated with good clinical results. Patient was scheduled for an implantable cardioverter defibrillator “life-saving”. Conclusions: The symptoms of heart failure and cardiac arrhythmias should be considered important in apparently healthy young patients. Besides intensive medical treatment is indicated the implantation of an ICD “life-saving” and in advanced cases heart transplantation. Even if the electrocardiographic findings are non specific for noncompaction, a complete diagnostic evaluation is important, including sophisticated imaging techniques, a screening of first-degree relatives, and an extensive clinical, and genetic appreciation by a

  11. DNA analysis in inherited cardiomyopathies : Current status and clinical relevance

    NARCIS (Netherlands)

    Van Spaendonck-Zwarts, Karin Y.; Van den Berg, Maarten P.; Van Tintelen, J. Peter

    2008-01-01

    Most hypertrophic cardiomyopathies and a subset of dilated and arrhythmogenic right ventricular cardiomyopathies are familial diseases. They generally show an autosomal dominant pattern of inheritance and have underlying mutations in genes encoding sarcomeric, cytoskeletal, nuclear envelope, and des

  12. Arrhythmogenic cardiomyopathy : diagnosis, genetic background, and risk management

    NARCIS (Netherlands)

    Groeneweg, J. A.; van der Heijden, J. F.; Dooijes, D.; van Veen, T. A. B.; van Tintelen, J. P.; Hauer, R. N.

    2014-01-01

    Arrhythmogenic cardiomyopathy (AC), also known as arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), is a hereditary disease characterised by ventricular arrhythmias, right ventricular and/or left ventricular dysfunction, and fibrofatty replacement of cardiomyocytes. Patients with A

  13. 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.

  14. MR imaging in cardiomyopathies; MR-tomographische Diagnostik von Kardiomyopathien

    Energy Technology Data Exchange (ETDEWEB)

    Miller, S. [Radiologische Universitaetsklinik Tuebingen (Germany); Riessen, R. [Tuebingen Univ. (Germany). Medizinische Klinik

    2005-11-15

    According to the WHO classification, cardiomyopathies are a group of diseases which are associated with myocardial dysfunction and can be classified either as primary or secondary cardiomyopathies. Genetic disorders have been identified in certain primary cardiomyopathies, however often the etiology remains unknown. The term ''secondary cardiomyopathy'' is used to specify diseases with the clinical indications of a cardiomyopathy, but can be attributed to a certain pathophysiological mechanism such as exposure to toxic substances, metabolic syndromes or systemic diseases. Based on morphological and functional criteria, primary cardiomyopathies are divided into dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy (ARVC) and restrictive cardiomyopathy (RCM). During the last two decades MR imaging has emerged to a well established diagnostic tool for the understanding and treatment of cardiomyopathies. Morphological and functional information can be achieved with a high level of accuracy and reproducibility. Tissue alteration of the myocardium can be detected assessing regional contrast enhancement, T1- and T2-signal intensities and chemical shift phenomena. This article describes characteristic aspects of MR imaging for the diagnosis of primary and secondary cardiomyopathies. (orig.)

  15. The Ace of Spades: Reverse Takotsubo Cardiomyopathy in the Context of Angiographic Embolization of Recurrent Metastatic Serotonin-Positive Neuroendocrine Tumour of the Pancreas

    Directory of Open Access Journals (Sweden)

    Ian A. Mazzetti

    2013-01-01

    Full Text Available A 62-year-old woman undergoing embolization of recurrent neuroendocrine tumor, positive for serotonin, developed chest pain and bradycardia with lateral ST-segment depression. Cardiac biomarkers were elevated, and echocardiography revealed akinesis of all basal segments with a normally contracting apex. The absence of flow-limiting coronary disease on angiography confirmed the presence of reverse Takotsubo cardiomyopathy. After optimal medical therapy for six weeks, left ventricular function returned to normal. Takotsubo cardiomyopathy has been described across a wide variety of hyperadrenergic states; the description of the reverse-type Takotsubo cardiomyopathy in the setting of embolization of recurrent neuroendocrine with serotonergic positivity tumour is novel.

  16. Hypertrophic obstructive cardiomyopathy in an infant with an adrenocortical tumor.

    Science.gov (United States)

    Hauser, Jakob; Riedl, Stefan; Michel-Behnke, Ina; Minkov, Milen; Perneczky, Eva; Horcher, Ernst

    2013-08-01

    Nonfamilial cardiomyopathies in childhood have been only sporadically ascribed to endocrine disorders. We report on a 4-month-old male infant presenting with Cushing's syndrome associated with excessive body weight (8.9 kg; >97th percentile) and features of virilization (Tanner stage 2 for pubic hair development). Abdominal sonography showed a large adrenal tumor. Echocardiography revealed myocardial hypertrophy with severe subaortic obstruction. Blood tests showed excessive androgen and cortisol serum levels with absent circadian rhythm as well as suppressed corticotropin. Urine catecholamine levels were within the normal range. Tumor resection with general anesthesia was performed after preparation with antihypertensive and anticongestive drug therapy. Continuous intravenous hydrocortisone substitution was started intraoperatively and subsequently tapered and switched to oral administration after 12 days. A gradual reduction in glucocorticoid substitution and its discontinuation after a total duration of 9 months were well tolerated. Histopathologic workup revealed an adrenocortical tumor of intermediate dignity. Postoperative tumor staging excluded both residual primary tumor and metastases. Both a normalization of body weight and myocardial mass were observed. The present article is, to our knowledge, the first to describe severe hypertrophic obstructive cardiomyopathy caused by an adrenocortical tumor and provides novel detailed data on postoperative glucocorticoid management.

  17. Manifestation of Latent Left Ventricular Outflow Tract Obstruction in the Acute Phase of Takotsubo Cardiomyopathy

    Science.gov (United States)

    Ozaki, Kazuyuki; Okubo, Takeshi; Tanaka, Komei; Hosaka, Yukio; Tsuchida, Keiichi; Takahashi, Kazuyoshi; Oda, Hirotaka; Minamino, Tohru

    2016-01-01

    Objective Left ventricular outflow tract (LVOT) obstruction is a complication in 15-25% of patients with Takotsubo cardiomyopathy and sometimes leads to catastrophic outcomes, such as cardiogenic shock or cardiac rupture. However, the underlying mechanisms have not been clarified. Methods and Results We experienced 22 cases of Takotsubo cardiomyopathy during 3 years, and 4 of these 22 cases were complicated with LVOT obstruction in the acute phase (mean age 79±5 years, 1 man, 21 women). The LVOT pressure gradient in the acute phase was 100±17 mmHg. Transthoracic echocardiogram (TTE) revealed left ventricular hypertrophy (LVH) in one case and sigmoid-shaped septum without LVH in three cases. The complete resolution of the LVOT obstruction was achieved in a few days with normalization of the left ventricular wall motion following administration of beta-blockers. A dobutamine provocation test after normalization of the left ventricular wall motion reproduced the LVOT obstruction in all cases and revealed the presence of latent LVOT obstruction. Conclusion The manifestation of latent LVOT obstruction in the acute phase of Takotsubo cardiomyopathy is one potential reason for the complication of LVOT obstruction with Takotsubo cardiomyopathy. PMID:27904102

  18. Peripartum cardiomyopathy in a patient treated for acute myeloid leukemia

    Directory of Open Access Journals (Sweden)

    Čolović Nataša

    2016-01-01

    Full Text Available Introduction. Peripartum cardiomyopathy usually presents with systolic heart failure during the last months of pregnancy and up to five months postpartum. The disease is rare and can be fatal. Case Outline. We report a 30-year-old female who was diagnosed with acute myeloid leukemia, with maturation and cytogenetic finding of t(8;21(q22;q22,del(9(q22 in January 2004. She was treated with chemotherapy and achieved complete remission that lasts to date. She became pregnant and delivered a healthy newborn with caesarean section in 2009. Seven months later, she again became pregnant and delivered the second child with caesarean section in January 2011. Seven days after delivery she developed symptoms and signs of heart failure. Electrocardiogram showed sinus rhythm, low voltage and negative T-waves in inferior and lateral leads. Echocardiography revealed global left ventricular dysfunction with ejection fraction of 15%, with mobile thrombotic mass of 12 mm attached to the left ventricle wall. She was treated with both unfractionated and low-molecular heparin, diuretics, cardiotonics, and beta-blockers. Within six following weeks left ventricle systolic function improved up to 25-30%. The full clinical recovery was achieved in September 2013, resulting in absence of heart failure and left ventricular ejection fraction of 54%. Conclusion. Peripartum cardiomyopathy is a rare condition. The cause of cardiomyopathy is unknown, but it is believed that it could be triggered by various conditions and risk factors. Although the patient was treated with cardiotoxic drugs (doxorubicin and mitoxantrone in permitted doses, they could have been contributory factors of myocardial damage. Close monitoring of cardiac function in the peripartal period might be beneficial in patients treated with cardiotoxic drugs. [Projekat Ministarstva nauke Republike Srbije, br. 175080 I br. OI 175034

  19. Electrocardiographic predictors of peripartum cardiomyopathy

    Science.gov (United States)

    Karaye, Kamilu M; Karaye, Kamilu M; Lindmark, Krister; Henein, Michael Y; Lindmark, Krister; Henein, Michael Y

    2016-01-01

    Summary Objective To identify potential electrocardiographic predictors of peripartum cardiomyopathy (PPCM). Methods: This was a case–control study carried out in three hospitals in Kano, Nigeria. Logistic regression models and a risk score were developed to determine electrocardiographic predictors of PPCM. Results: A total of 54 PPCM and 77 controls were consecutively recruited after satisfying the inclusion criteria. After controlling for confounding variables, a rise in heart rate of one beat/minute increased the risk of PPCM by 6.4% (p = 0.001), while the presence of ST–T-wave changes increased the odds of PPCM 12.06-fold (p < 0.001). In the patients, QRS duration modestly correlated (r = 0.4; p < 0.003) with left ventricular dimensions and end-systolic volume index, and was responsible for 19.9% of the variability of the latter (R2 = 0.199; p = 0.003). A risk score of ≥ 2, developed by scoring 1 for each of the three ECG disturbances (tachycardia, ST–T-wave abnormalities and QRS duration), had a sensitivity of 85.2%, specificity of 64.9%, negative predictive value of 86.2% and area under the curve of 83.8% (p < 0.0001) for potentially predicting PPCM. Conclusion In postpartum women, using the risk score could help to streamline the diagnosis of PPCM with significant accuracy, prior to confirmatory investigations PMID:27213852

  20. Peripartum cardiomyopathy – case series

    Science.gov (United States)

    Prasad, Gowri Sayi; Bhupali, Ashok; Prasad, Sayi; Patil, Ajit N.; Deka, Yashodhan

    2014-01-01

    Objectives To study the pattern of presentation, course of disease and outcome of pregnancy in Peripartum Cardiomyopathy. Methods A prospective study of sixteen cases of PPCM was conducted at Apple Saraswati Multispecialty Hospital and Dr. D.Y. Patil Medical College and Hospital, Kolhapur, Maharashtra, India from January 2006 to December 2012. Data included age distribution, parity, gestational age, symptoms and risk factors. Medical management and pregnancy outcome were documented. Serial echocardiography data was compiled for a period of one year. Results In our study 9/16 (56%) were primigravidae, 4/16 (25%) had pre-eclamsia and 6/16 (35%) had co-existing hypertension. The difference in Echocardiography parameters observed between recovered and non-recovered patients was significant: Left Ventricular End diastolic dimension (5.6 cm vs 6.06 cm), Left Ventricular Ejection Fraction (28.7% vs 22.4%) and Left Ventricular fractional shortening (17.5% vs 13.4%). Thirteen out of sixteen patients were followed up for a period of one year out of which 61% (8/13) patients recovered completely. There was one mortality. Conclusion PPCM is a diagnosis of exclusion. Majority were young primigravidae presenting postnatally. Pre-eclampsia and hypertension were risk factors. ECHO parameters were reliable predictors of recovery. Future pregnancies are better avoided. PMID:24814122

  1. 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.

  2. A fatal case of peripartum cardiomyopathy.

    Science.gov (United States)

    Cohen, Ronny; Mallet, Thierry; Mirrer, Brooks; Loarte, Pablo; Gale, Michael; Kastell, Paul

    2014-06-01

    Peripartum cardiomyopathy is a life-threatening cardiac condition affecting pregnant women either late in pregnancy or early in the post-partum period. The latest studies show a dramatic improvement in the mortality rates of women affected with this disorder, which has been correlated with advances in medical therapy for heart failure. However, patients continue to die of this condition. The following case report describes a typical patient with peripartum cardiomyopathy diagnosed on clinical grounds, along with echocardiogram findings of severe systolic dysfunction and global hypokinesis consistent with dilated cardiomyopathy. Emergency cesarean delivery had to be performed for fetal distress. There was significant improvement of the patient's condition with standard pharmacological management for heart failure at the time of discharge. However, five weeks after discharge, fatal cardiac arrest occurred. It is hoped that this article will raise awareness about this rare but potentially fatal condition and promote understanding of its main clinical features, diagnostic criteria, and conventional pharmacological management.

  3. Cardiomyopathie hypertrophique neonatale de diagnostic etiologique difficile

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    Rania Hammami

    2011-12-01

    Full Text Available La cardiomyopathie hypertrophique neonatale est une entite rare, heterogene regroupant plusieurs formes cliniques et donc de diagnostic etiologique difficile. Nous rapportons l�observation d�un nouveau ne issu d�une grossesse gemellaire, ayant presente a la naissance un tableau d�insuffisance cardiaque, l�echocardiographie avait conclut a une cardiomyopathie hypertrophique obstructive. Le bilan etiologique etait negatif notamment une mere non diabetique. L�evolution etait favorable avec regression de l�hypertrophie 2 semaines apres la naissance. L�etiologie finalement suggeree etait une cardiomyopathie secondaire a l�injection antenatale de corticoides dans le but d�accelerer la maturation pulmonaire. L�etablissement par les societes savantes d�un consensus de bilan etiologique minimal standard selon une chronologie bien determinee serait d�un grand apport dans la prise en charge de cette anomalie.

  4. Cardiomyopathy in Africa: heredity versus environment.

    Science.gov (United States)

    Mayosi, Bongani M; Somers, Krishna

    2007-01-01

    Unlike other parts of the world in which cardiomyopathy is rare, heart muscle disease is endemic in Africa. The major forms of cardiomyopathy in Africa are dilated cardiomyopathy (DCM) and endomyocardial fibrosis (EMF). Whereas DCM is a major cause of heart failure throughout the continent, EMF is restricted to the tropical regions of East, Central, and West Africa. Although epidemiological studies are lacking, hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy seem to have characteristics similar to those of other populations elsewhere in the world. Recent advances in the genetic analysis of DCM in other parts of the world indicate that it is a genetically heterogeneous disorder in which some cases have a Mendelian cause and others have a non-genetic or multifactorial cause. This heterogeneous pattern of inheritance has been confirmed in small studies that have been conducted so far in Africa. The advent of human immunodeficiency virus infection and its association with cardiomyopathy has emphasised the role of inflammatory agents in the pathogenesis of DCM. By contrast with DCM in which some cases have major genetic contributions, there is scanty evidence for the role of genetic factors in the aetiology of EMF. Although the pathogenesis of EMF is not fully understood, it appears that the conditioning factor may be geography (in its widest sense, to include climate and socio-economic status), the triggering factor may be an as yet unidentified infective agent, and the perpetuating factor may be eosinophilia. There is a need for renewed effort to identify genetic and non-genetic factors in EMF and other forms of heart muscle disease that are prevalent on the continent of Africa.

  5. Predictors and prevention of diabetic cardiomyopathy

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    Chavali V

    2013-04-01

    Full Text Available Vishalakshi Chavali, Suresh C Tyagi, Paras K Mishra Department of Physiology and Biophysics, School of Medicine, University of Louisville, Louisville, Kentucky, USA Abstract: Despite our cognizance that diabetes can enhance the chances of heart failure, causes multiorgan failure,and contributes to morbidity and mortality, it is rapidly increasing menace worldwide. Less attention has been paid to alert prediabetics through determining the comprehensive predictors of diabetic cardiomyopathy (DCM and ameliorating DCM using novel approaches. DCM is recognized as asymptomatic progressing structural and functional remodeling in the heart of diabetics, in the absence of coronary atherosclerosis and hypertension. The three major stages of DCM are: (1 early stage, where cellular and metabolic changes occur without obvious systolic dysfunction; (2 middle stage, which is characterized by increased apoptosis, a slight increase in left ventricular size, and diastolic dysfunction and where ejection fraction (EF is <50%; and (3 late stage, which is characterized by alteration in microvasculature compliance, an increase in left ventricular size, and a decrease in cardiac performance leading to heart failure. Recent investigations have revealed that DCM is multifactorial in nature and cellular, molecular, and metabolic perturbations predisposed and contributed to DCM. Differential expression of microRNA (miRNA, signaling molecules involved in glucose metabolism, hyperlipidemia, advanced glycogen end products, cardiac extracellular matrix remodeling, and alteration in survival and differentiation of resident cardiac stem cells are manifested in DCM. A sedentary lifestyle and high fat diet causes obesity and this leads to type 2 diabetes and DCM. However, exercise training improves insulin sensitivity, contractility of cardiomyocytes, and cardiac performance in type 2 diabetes. These findings provide new clues to diagnose and mitigate DCM. This review embodies

  6. Multimodality imaging in apical hypertrophic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

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

    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 firstline 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.

  7. Gallium-67 myocardial scintigraphy in dilated cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Aoki, Toshikazu; Konishi, Tokuji; Koyama, Takao; Morita, Yuriko; Futagami, Yasuo; Hayashi, Takamaro; Hamada, Masayuki; Nakano, Takeshi

    1988-12-01

    Gallium-67 imaging has been employed clinically in the detection of malignant tumor or chronic inflammatory disease. In this study, we evaluated the usefulness of Gallium-67 myocardial imaging as an adjunct to endomyocardial biopsy in the diagnosis of myocarditis. Nine patients who had been diagnosed clinically as dilated cardiomyopathy underwent Gallium-67 myocardial imaging. Left ventricular endomyocardial biopsy was performed on all patients. Two had positive Gallium-67 imaging, but myocarditis was not proven in their tissue specimen. Two others with proven myocarditis had negative Gallium-67 imaging. These results suggest that Gallium-67 imaging is not always a useful tool to detect latent myocarditis in patients with dilated cardiomyopathy.

  8. Kidney infarction in Friedreich's ataxia with dilated cardiomyopathy.

    Science.gov (United States)

    Evangelopoulos, Dimitrios Stergios; Pirvu, Tatiana Nataly; Exadaktylos, Aristomenis; Kohl, Sandro

    2012-09-30

    A 37-year-old man with advanced Friedreich's ataxia was referred to our emergency department with acute exacerbated abdominal pain of unclear aetiology. Laboratory tests showed slightly increased inflammatory parameters, elevated troponin and B-type natriuretic peptide, as well as minimal proteinuria. Transthoracic echocardiography revealed a pre-existing dilated cardiomyopathy. Abdominal sonography showed no pathological alterations. Owing to persistent pain under analgesia, a contrast-enhanced CT-abdomen was performed, which revealed a non-homogeneous perfusion deficit of the right kidney, although neither abdominal vascular alteration, cardiac thrombus, deep vein thrombosis nor a patent foramen ovale could be detected. Taking all clinical and radiological results into consideration, the current incident was diagnosed as a thromboembolic kidney infarction. As a consequence, lifelong oral anticoagulation was initiated.

  9. Posterolateral hypertrophic cardiomyopathy: a rare, but clinically significant variant of hypertrophic cardiomyopathy.

    Science.gov (United States)

    Seki, Atsuko; Perens, Gregory; Fishbein, Michael C

    2014-01-01

    Posterolateral hypertrophic cardiomyopathy (HCM) is a rare variant of HCM. Segmental HCM is seen in 12% of cases of HCM. Among the patterns of segmental HCM, posterolateral HCM is the least common type. Our case of an 18-year old male documents this unusual type of cardiomyopathy. In this form of HCM, left ventricular thickness and the extent of hypertrophy might be underestimated by 2-dimensional echocardiography. This case illustrates the echocardiographic and pathologic features of posterolateral HCM.

  10. Patients with the tako-tsubo cardiomyopathy-clinical evaluation and outcome

    Institute of Scientific and Technical Information of China (English)

    Agata Salska; Izabela Plesiewicz; Marzenna Zielinska; Krzysztof Chiżynski

    2014-01-01

    Objective:Tako-tsubo cardiomyopathy(TTC) or is a rare, acute, reversible cardiac dysfunction mimicking an acute coronary syndrome(ACS) and usually connected with a preceding intense physical or emotional stress trigger.This case series-observational study is to evaluate the clinical findings(including the depression and anxiety disorders) and outcome in patients with the tako-tsubo cardiomyopathy treated in ourCentre, during18 month period.Methods:From the group of730 patients, who were admitted with the suspected acute myocardial infarct, ten patients, who fulfilled diagnostic criteria forTTC, were evaluated.For each patient we assessed: clinical characteristic, previous medical history including coronary disease risk factors and preceding stress trigger,12-leads electrocardiography and laboratory tests.All patients underwent coronary-artery angiography, trans-thoracic echocardiography and completed the questionnaire evaluating the depression and anxiety disorders.Results:The estimated prevalence and clinical features of patients with the tako-tsubo cardiomyopathy in ourCentre were similar to those in the literature, with the wide range of stress triggers.There was a statistically significant improvement in the ejection fraction during the hospitalization.Psychological tests revealed the0.7 occurrence of depression or anxiety disorders among our patients.Conclusions:The exact pathogenesis of the tako-tsubo cardiomyopathy remains uncertain, but it is important to take it into account as a differential diagnosis in patients with the clinical features of myocardial infarct in the absenceof coronary artery stenosis.

  11. Prevalence of hypertrophic cardiomyopathy in China

    Institute of Scientific and Technical Information of China (English)

    Tsung O Cheng

    2004-01-01

    @@ To the Editor: I read with interest the recent article on cardiac troponin T (TNNT2) mutations in Chinese patients with hypertrophic cardiomyopathy (HCM) by Wu et al.1 The authors cited a prevalence of HCM of 0.2% in general population, but did not indicate whether it referred to the general population in China or some other countries.

  12. Diagnostic work-up in cardiomyopathies

    DEFF Research Database (Denmark)

    Rapezzi, Claudio; Arbustini, Eloisa; Caforio, Alida L P

    2013-01-01

    In 2008, The ESC Working Group on Myocardial and Pericardial Diseases proposed an updated classification of cardiomyopathies based on morphological and functional phenotypes and subcategories of familial/genetic and non-familial/non-genetic disease. In this position statement, we propose...

  13. Clinical and molecular classification of cardiomyopathies

    Directory of Open Access Journals (Sweden)

    Franco Cecchi

    2012-07-01

    Full Text Available The term “cardiomyopathies” was used for the first time 55 years ago, in 1957. Since then awareness and knowledge of this important and complex group of heart muscle diseases have improved substantially. Over these past five decades a large number of definitions, nomenclature and schemes, have been advanced by experts and consensus panel, which reflect the fast and continued advance of the scientific understanding in the field. Cardiomyopathies are a heterogeneous group of inherited myocardial diseases, which represent an important cause of disability and adverse outcome. Although considered rare diseases, the overall estimated prevalence of all cardiomyopathies is at least 3% in the general population worldwide. Furthermore, their recognition is increasing due to advances in imaging techniques and greater awareness in both the public and medical community. Cardiomyopathies represent an ideal translational model of integration between basic and clinical sciences. A multidisciplinary approach is therefore essential in order to ensure their correct diagnosis and management. In the present work, we aim to provide a concise overview of the historical background, genetic and phenotypic spectrum and evolving concepts leading to the various attempts of cardiomyopathy classifications produced over the decades.

  14. Update in cardiomyopathies and congestive heart failure

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    The Heart Hospital, London, UK and Monaldi Hospital, Naples, Italy

    2012-05-01

    Full Text Available This abstract book contains four reports and all abstracts presented to the Joint Meeting: Update in cardiomyopathies and congestive heart failure, 22-23 September 2011 - Naples, Italy, endorsed by the Working Group on Myocardial and Pericardial Diseases (WG 21 of the European Society of Cardiology (ESC.

  15. 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.

  16. Epidemiology and genetics of hypertrophic cardiomyopathy

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    Tanjore Reena

    2006-01-01

    Full Text Available Background: Hypertrophic cardiomyopathy (HCM is a heart muscle disorder and is known to be inherited as an autosomal dominant trait. Mutations in several sarcomeric, cytoskeletal and mitochondrial genes have been reported in HCM. Though many cases of HCM are being identified, there is limited data regarding the epidemiology and genetics of HCM in India. Aim: Therefore the present study is envisaged at identifying the epidemiological variables in HCM and fitting a probability model assuming dominant mode of inheritance in HCM, which may in turn shed light on the heterogeneity of this complex disorder. Materials AND Methods: The 127 HCM cases were divided into subtypes based on pattern of hypertrophy. Chi square analysis, odds ratio, probability, relative frequency, penetrance and heritability estimates were calculated apart from epidemiological variables. Results: The HCM subtypes revealed the heterogeneous nature of the condition suggesting that the genes/mutations involved in their pathogenesis are different and this is supported by distinctive differences observed in their probability, heritability and penetrance estimates apart from epidemiological variables. An increased male preponderance was observed with the sex ratio being 3.7:1. The age at onset was found to be more than a decade early in familial cases (30 ± 10 yrs compared to non familial cases (44 ± 14 yrs. Chi square analysis revealed obstructive HCM to be following autosomal dominant mode of inheritance where as non-obstructive HCM was significantly deviating. The level of deviation was significantly high for the middle onset group compared to early and late onset groups, therefore this group may be considered as an admixture wherein genes/gene modifiers and environmental variables may be contributing to the heterogeneity and this is further supported by odds ratio. Conclusions: The study thus brings out the complexity of HCM and suggests that modes of inheritance other than

  17. Emergency management of decompensated peripartum cardiomyopathy

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    Lata Indu

    2009-01-01

    Full Text Available Peripartum cardiomyopathy (PPCM is a rare life-threatening cardiomyopathy of unknown cause that occurs in the peripartum period in previously healthy women. [1] the symptomatic patients should receive standard therapy for heart failure, managed by a multidisciplinary team. The diagnosis of PPCM rests on the echocardiographic identification of new left ventricular systolic dysfunction during a limited period surrounding parturition. Diagnostic criteria include an ejection fraction of less than 45%, fractional shortening of less than 30%, or both, and end-diastolic dimension of greater than 2.7 cm/m 2 body surface-area. This entity presents a diagnostic challenge because many women in the last month of a normal pregnancy experience dyspnea, fatigue, and pedal edema, symptoms identical to early congestive heart failure. There are no specific criteria for differentiating subtle symptoms of heart failure from normal late pregnancy. Therefore, it is important that a high index of suspicion be maintained to identify the rare case of PPCM as general examination showing symptoms of heart failure with pulmonary edema. PPCM remains a diagnosis of exclusion. No additional specific criteria have been identified to allow distinction between a peripartum patient with new onset heart failure and left ventricular systolic dysfunction as PPCM and another form of dilated cardiomyopathy. Therefore, all other causes of dilated cardiomyopathy with heart failure must be systematically excluded before accepting the designation of PPCM. Recent observations from Haiti [2] suggest that a latent form of PPCM without clinical symptoms might exist. The investigators identified four clinically normal postpartum women with asymptomatic systolic dysfunction on echocardiography, who subsequently either developed clinically detectable dilated cardiomyopathy or improved and completely recovered heart function.

  18. Related factors of dilated cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    Guangyong Huang; Hang Gao; Xiangang Meng; Zhonghua Yan; Xiangquan Kong; Lexin Wang

    2009-01-01

    Objective To investigate the etiology and relative factors of dilated cardiomyopathy (DCM) in Chinese patients. Methods A case-control study was conducted to compare 233 patients with DCM in high-incidence areas (case group) and 150 patients with stable angina pectoris (control group). Life styles and history of diseases information was collected by questionaire; human anti-myocardial antibody IgG (AMA- IgG), human Coxsackie B virus IgG (CBV- IgG) and human adenovirus antibody IgG (ADV- lgG) were measured with ELISA. General chemical and toxicological indicators in drink water from high and low prevalence areas and serum trace elements also were compared. Results 1 ) Compared with the control group, the case group had more farmers (P < 0.01), with low average incomes (P < 0.01), higher alcohol consumption (P < 0.01) and higher incidence of the history of myocarditis (P < 0.01 ). 2) AMA-IgG, CBV-IgG and ADV-IgG levels were low and the positive rates ofAMA-IgG, CBV-IgG and ADV-IgG of patients with DCM were respectively 7.78%, 6.67% and 6.67%, no statistical significance comparing with those in the control group. 3) The content of iron (1.36±2.18 vs 0.39±0.67 mg/L, P<0.05) and manganese (0.384±0.35 vs 0.15±0.14, P<0.01 ) in drinking water of high-incidence areas was significantly higher than that in low-incidence areas. 4) The content of serum iron (69.14±57.8 vs 20.04±17.5 μ mol/L, P<0.01 ) and copper (25.74±4.2 vs 19.7±4.5 μmol/L, P<0.01) in the case group evidently exceeded the normal range and obviously higher than that in the control group. Conclusions 1) The incidence of some DCM is related with low incomes, high alcohol consumption and myocarditis. 2) These data do not support that DCM is related with persistent virus infection and autoimmunization; 3) Iron and manganese contents exceeding standards in drinking water and the high content of serum iron and copper is comparatively related with the incidence of DCM.

  19. Aortic biomechanics in hypertrophic cardiomyopathy

    Science.gov (United States)

    Badran, Hala Mahfouz; Soltan, Ghada; Faheem, Nagla; Elnoamany, Mohamed Fahmy; Tawfik, Mohamed; Yacoub, Magdi

    2015-01-01

    Background: Ventricular-vascular coupling is an important phenomenon in many cardiovascular diseases. The association between aortic mechanical dysfunction and left ventricular (LV) dysfunction is well characterized in many disease entities, but no data are available on how these changes are related in hypertrophic cardiomyopathy (HCM). Aim of the work: This study examined whether HCM alone is associated with an impaired aortic mechanical function in patients without cardiovascular risk factors and the relation of these changes, if any, to LV deformation and cardiac phenotype. Methods: 141 patients with HCM were recruited and compared to 66 age- and sex-matched healthy subjects as control group. Pulse pressure, aortic strain, stiffness and distensibility were calculated from the aortic diameters measured by M-mode echocardiography and blood pressure obtained by sphygmomanometer. Aortic wall systolic and diastolic velocities were measured using pulsed wave Doppler tissue imaging (DTI). Cardiac assessment included geometric parameters and myocardial deformation (strain and strain rate) and mechanical dyssynchrony. Results: The pulsatile change in the aortic diameter, distensibility and aortic wall systolic velocity (AWS') were significantly decreased and aortic stiffness index was increased in HCM compared to control (P < .001) In HCM AWS' was inversely correlated to age(r = − .32, P < .0001), MWT (r = − .22, P < .008), LVMI (r = − .20, P < .02), E/Ea (r = − .16, P < .03) LVOT gradient (r = − 19, P < .02) and severity of mitral regurg (r = − .18, P < .03) but not to the concealed LV deformation abnormalities or mechanical dyssynchrony. On multivariate analysis, the key determinant of aortic stiffness was LV mass index and LVOT obstruction while the role LV dysfunction in aortic stiffness is not evident in this population. Conclusion: HCM is associated with abnormal aortic mechanical properties. The severity of cardiac

  20. Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.

    Science.gov (United States)

    Hedberg-Oldfors, Carola; Glamuzina, Emma; Ruygrok, Peter; Anderson, Lisa J; Elliott, Perry; Watkinson, Oliver; Occleshaw, Chris; Abernathy, Malcolm; Turner, Clinton; Kingston, Nicola; Murphy, Elaine; Oldfors, Anders

    2017-01-01

    We describe a new type of cardiomyopathy caused by a mutation in the glycogenin-1 gene (GYG1). Three unrelated male patients aged 34 to 52 years with cardiomyopathy and abnormal glycogen storage on endomyocardial biopsy were homozygous for the missense mutation p.Asp102His in GYG1. The mutated glycogenin-1 protein was expressed in cardiac tissue but had lost its ability to autoglucosylate as demonstrated by an in vitro assay and western blot analysis. It was therefore unable to form the primer for normal glycogen synthesis. Two of the patients showed similar patterns of heart dilatation, reduced ejection fraction and extensive late gadolinium enhancement on cardiac magnetic resonance imaging. These two patients were severely affected, necessitating cardiac transplantation. The cardiomyocyte storage material was characterized by large inclusions of periodic acid and Schiff positive material that was partly resistant to alpha-amylase treatment consistent with polyglucosan. The storage material had, unlike normal glycogen, a partly fibrillar structure by electron microscopy. None of the patients showed signs or symptoms of muscle weakness but a skeletal muscle biopsy in one case revealed muscle fibres with abnormal glycogen storage. Glycogenin-1 deficiency is known as a rare cause of skeletal muscle glycogen storage disease, usually without cardiomyopathy. We demonstrate that it may also be the cause of severe cardiomyopathy and cardiac failure without skeletal muscle weakness. GYG1 should be included in cardiomyopathy gene panels.

  1. Diverse Phenotypic Expression of Cardiomyopathies in a Family with TNNI3 p.Arg145Trp Mutation

    Science.gov (United States)

    Hwang, Ji-won; Jang, Mi-Ae; Jang, Shin Yi; Seo, Soo Hyun; Seong, Moon-Woo; Park, Sung Sup; Ki, Chang-Seok

    2017-01-01

    Genetic diagnosis of cardiomyopathies is challenging, due to the marked genetic and allelic heterogeneity and the lack of knowledge of the mutations that lead to clinical phenotypes. Here, we present the case of a large family, in which a single TNNI3 mutation caused variable phenotypic expression, ranging from restrictive cardiomyopathy (RCMP) to hypertrophic cardiomyopathy (HCMP) to near-normal phenotype. The proband was a 57-year-old female with HCMP. Examining the family history revealed that her elder sister had expired due to severe RCMP. Using a next-generation sequencing-based gene panel to analyze the proband, we identified a known TNNI3 gene mutation, c.433C>T, which is predicted to cause an amino acid substitution (p.Arg145Trp) in the highly conserved inhibitory region of the cardiac troponin I protein. Sanger sequencing confirmed that six relatives with RCMP or near-normal phenotypes also carried this mutation. To our knowledge, this is the first genetically confirmed family with diverse phenotypic expression of cardiomyopathies in Korea. Our findings demonstrate familial implications, where a single mutation in a sarcomere protein can cause diverse phenotypic expression of cardiomyopathies.

  2. Ventricular Rhythm and Hypotension in a Patient with Pheochromocytoma-induced Myocardial Damage and Reverse Takotsubo Cardiomyopathy.

    Science.gov (United States)

    Tagawa, Minoru; Nanba, Hitomi; Suzuki, Hiromi; Nakamura, Yuichi; Uchiyama, Hiroko; Ochiai, Sachie; Terunuma, Masahiro; Yahata, Kazuaki; Minamino, Tohru

    2015-01-01

    A 33-year-old woman experienced near-syncope at a hospital. Electrocardiography revealed an intermittent ventricular rhythm. The echocardiogram at admission indicated mild hypokinesis and severe diffuse hypokinesis with reverse takotsubo cardiomyopathy on the following day. The patient experienced abdominal pain on the admission day, and computed tomography identified a large left adrenal mass. Her catecholamine levels increased remarkably on the third day. The wall motion improved on the twelfth day. The tumor was successfully resected and the patient was diagnosed with an ectopic pheochromocytoma. The ventricular rhythm with myocardial damage and hypotension induced by the reverse takotsubo cardiomyopathy masked the characteristic symptoms of pheochromocytoma.

  3. Speckle tracking echocardiography detects uremic cardiomyopathy early and predicts cardiovascular mortality in ESRD.

    Science.gov (United States)

    Kramann, Rafael; Erpenbeck, Johanna; Schneider, Rebekka K; Röhl, Anna B; Hein, Marc; Brandenburg, Vincent M; van Diepen, Merel; Dekker, Friedo; Marx, Nicolaus; Floege, Jürgen; Becker, Michael; Schlieper, Georg

    2014-10-01

    Cardiovascular mortality is high in ESRD, partly driven by sudden cardiac death and recurrent heart failure due to uremic cardiomyopathy. We investigated whether speckle-tracking echocardiography is superior to routine echocardiography in early detection of uremic cardiomyopathy in animal models and whether it predicts cardiovascular mortality in patients undergoing dialysis. Using speckle-tracking echocardiography in two rat models of uremic cardiomyopathy soon (4-6 weeks) after induction of kidney disease, we observed that global radial and circumferential strain parameters decreased significantly in both models compared with controls, whereas standard echocardiographic readouts, including fractional shortening and cardiac output, remained unchanged. Furthermore, strain parameters showed better correlations with histologic hallmarks of uremic cardiomyopathy. We then assessed echocardiographic and clinical characteristics in 171 dialysis patients. During the 2.5-year follow-up period, ejection fraction and various strain parameters were significant risk factors for cardiovascular mortality (primary end point) in a multivariate Cox model (ejection fraction hazard ratio [HR], 0.97 [95% confidence interval (95% CI), 0.95 to 0.99; P=0.012]; peak global longitudinal strain HR, 1.17 [95% CI, 1.07 to 1.28; P<0.001]; peak systolic and late diastolic longitudinal strain rates HRs, 4.7 [95% CI, 1.23 to 17.64; P=0.023] and 0.25 [95% CI, 0.08 to 0.79; P=0.02], respectively). Multivariate Cox regression analysis revealed circumferential early diastolic strain rate, among others, as an independent risk factor for all-cause mortality (secondary end point; HR, 0.43; 95% CI, 0.25 to 0.74; P=0.002). Together, these data support speckle tracking as a postprocessing echocardiographic technique to detect uremic cardiomyopathy and predict cardiovascular mortality in ESRD.

  4. Myocardial edema in Takotsubo syndrome mimicking apical hypertrophic cardiomyopathy: An insight into diagnosis by cardiovascular magnetic resonance.

    Science.gov (United States)

    Izgi, Cemil; Ray, Sanjoy; Nyktari, Evangelia; Alpendurada, Francisco; Lyon, Alexander R; Rathore, Sudhir; Baksi, Arun John

    2015-01-01

    Myocardial edema is one of the characteristic features in the pathogenesis of Takotsubo syndrome. We report a middle aged man who presented with typical clinical and echocardiographic features of apical variant of Takotsubo syndrome. However, a cardiovascular magnetic resonance study performed 10 days after presentation did not show any apical 'ballooning' but revealed features of an apical hypertrophic cardiomyopathy on cine images. Tissue characterization with T2 weighted images proved severe edema as the cause of significantly increased apical wall thickness. A follow-up cardiovascular magnetic resonance study was performed 5 months later which showed that edema, wall thickening and the appearance of apical hypertrophic cardiomyopathy all resolved, confirming Takotsubo syndrome as the cause of the initial appearance. As the affected myocardium most commonly involves the apical segments, an edema induced increase in apical wall thickness may lead to appearances of an apical hypertrophic cardiomyopathy rather than apical ballooning in the acute to subacute phase of Takotsubo syndrome.

  5. Vagal enhancement linking abnormal blood pressure response and subendocardial ischemia in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Kawasaki, Tatsuya; Sugihara, Hiroki

    2014-01-01

    An abnormal blood pressure response to exercise has been reported to be associated with left ventricular subendocardial ischemia in patients with hypertrophic cardiomyopathy (HCM), but the underlying mechanism remains unclear. We report a case of HCM with an abnormal blood pressure response and subendocardial ischemia, in which the analysis of heart rate variability revealed exercise-induced vagal enhancement. The present case highlights the possible mechanism linking abnormal blood pressure response and left ventricular subendocardial ischemia in patients with HCM.

  6. Perturbation of NCOA6 Leads to Dilated Cardiomyopathy

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    Jae-il Roh

    2014-08-01

    Full Text Available Dilated cardiomyopathy (DCM is a progressive heart disease characterized by left ventricular dilation and contractile dysfunction. Although many candidate genes have been identified with mouse models, few of them have been shown to be associated with DCM in humans. Germline depletion of Ncoa6, a nuclear hormone receptor coactivator, leads to embryonic lethality and heart defects. However, it is unclear whether Ncoa6 mutations cause heart diseases in adults. Here, we report that two independent mouse models of NCOA6 dysfunction develop severe DCM with impaired mitochondrial function and reduced activity of peroxisome proliferator-activated receptor δ (PPARδ, an NCOA6 target critical for normal heart function. Sequencing of NCOA6-coding regions revealed three independent nonsynonymous mutations present in 5 of 50 (10% patients with idiopathic DCM (iDCM. These data suggest that malfunction of NCOA6 can cause DCM in humans.

  7. Data of methylome and transcriptome derived from human dilated cardiomyopathy

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    Bong-Seok Jo

    2016-12-01

    Full Text Available Alterations in DNA methylation and gene expression have been implicated in the development of human dilated cardiomyopathy (DCM. Differentially methylated probes (DMPs and differentially expressed genes (DEGs were identified between the left ventricle (LV, a pathological locus for DCM and the right ventricle (RV, a proxy for normal hearts. The data in this DiB are for supporting our report entitled “Methylome analysis reveals alterations in DNA methylation in the regulatory regions of left ventricle development genes in human dilated cardiomyopathy” (Bong-Seok Jo, In-Uk Koh, Jae-Bum Bae, Ho-Yeong Yu, Eun-Seok Jeon, Hae-Young Lee, Jae-Joong Kim, Murim Choi, Sun Shim Choi, 2016 [1].

  8. 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....... Several polymorphic mtDNA variants are associated with a variety of late-onset degenerative diseases and affect mitochondrial function. We examined the role of private, non-haplogroup associated, mitochondrial variants in the etiology of HCM. In 87 Danish HCM patients, full mtDNA sequencing revealed 446......>G, and MT-CYB: m.15024G>A, p.C93Y remained. A detailed analysis of these variants indicated that none of them are likely to cause HCM. In conclusion, private mtDNA mutations are frequent, but they are rarely, if ever, associated with HCM....

  9. 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)

  10. Assessment of Takotsubo (ampulla) cardiomyopathy using {sup 99m}Tc-tetrofosmin myocardial SPECT. Comparison with acute coronary syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Ito, Kazuki; Katoh, Shuji [Asahi Univ., Gifu (Japan). Murakami Memorial Hospital; Sugihara, Hiroki; Azuma, Akihiro; Nakagawa, Masao [Kyoto Prefectural Univ. of Medicine (Japan)

    2003-04-01

    We assessed Takotsubo (ampulla) cardiomyopathy compared with acute coronary syndrome (ACS) using two-dimensional echocardiography and {sup 99m}Tc-tetrofosmin myocardial SPECT. We examined 10 patients with Takotsubo cardiomyopathy and 16 with ACS at the time of emergency admission (acute phase), at three to nine days after the attack (subacute phase) and at one month after the attack (chronic phase). The left ventricle was divided into nine regions on echocardiograms and SPECT images, and the degree of abnormalities in each region was scored in five grades from normal (0) to severely abnormal (4). Coronary angiography revealed total or subtotal occlusion in patients with ACS but no stenotic legions in those with Takotsubo cardiomyopathy. The amount of ST segment elevation (mm) was 7.9{+-}3.4 in patients with Takotsubo cardiomyopathy and 7.3{+-}3.7 in those with ACS (N.S.). Abnormal wall motion scores on echocardiograms were 13.8{+-}4.4, 4.4{+-}3.8 and 1.8{+-}2.3 during the acute, subacute and chronic phases in patients with Takotsubo cardiomyopathy, and 13.9{+-}4.0, 11.7{+-}3.7, 7.6{+-}4.2, respectively in patients with ACS. The value of MB fraction of creatine phosphokinase (IU/l) was 34{+-}23 in patients with Takotsubo cardiomyopathy and 326{+-}98 in those with ACS (p<0.001). Abnormal myocardial perfusion scores on {sup 99m}Tc-tetrofosmin myocardial SPECT were 11.4{+-}3.2, 3.2{+-}3.3 and 0.7{+-}1.1 during the acute, subacute and chronic phases respectively, in patients with Takotsubo cardiomyopathy, and 15.8{+-}4.1, 13.5{+-}4.4, 8.2{+-}4.4, respectively, in those with ACS. The numbers of myocardial segments that did not uptake {sup 99m}Tc-tetrofosmin during the acute phase were 0.5{+-}0.8 and 3.6{+-}2.8 in patients with Takotsubo cardiomyopathy and ACS, respectively. Impaired coronary microcirculation might be a causative mechanism of Takotsubo cardiomyopathy. (author)

  11. Stress-induced cardiomyopathy in the absence of complaints

    Directory of Open Access Journals (Sweden)

    N. M. Butkevich

    2012-01-01

    Full Text Available Stress-induced cardiomyopathy or Takotsubo cardiomyopathy that generally runs with the clinical manifestations of acute coronary syndrome and left ventricular asynergy, which are caused by emotional, psychological, or physical stress, is most frequently encountered among the unclassified cardiomyopathies. A clinical case of this myocardial lesion without clinical manifestations, but with transient electrocardiographic changes and evident impairment of left ventricular contraction is described.

  12. [Takotsubo cardiomyopathy: a novel beta-adrenergic blocker withdrawal syndrome].

    Science.gov (United States)

    Tomcsányi, János; Jávor, Kinga; Arabadzisz, Hrisula; Zsoldos, András; Wagner, Vince; Sármán, Balázs

    2013-02-17

    The authors describe two cases of takotsubo cardiomyopathy developing after an abrupt withdrawal of carvedilol and bisoprolol. Takotsubo or stress cardiomyopathy is characterized by acute and reversible cardiac dysfunction without coronary artery disease. It is triggered by acute emotional or physical stress, drugs or drug withdrawal. The immediate discontinuation of the long acting vasodilator beta-blocker, carvedilol has not yet been described to cause takotsubo cardiomyopathy. The authors recommend cautious withdrawal of beta-blockers.

  13. Heart failure in pregnant women: is it peripartum cardiomyopathy?

    Science.gov (United States)

    Dennis, Alicia Therese

    2015-03-01

    Peripartum cardiomyopathy is a rare but important cause of maternal morbidity and mortality. Women with peripartum cardiomyopathy often present with symptoms and signs of heart failure. The diagnosis of peripartum cardiomyopathy is made after all other causes of heart failure are excluded. Emphasis is on the immediate recognition of an unwell pregnant or recently pregnant woman, early diagnosis with the use of echocardiography, and the correct treatment of heart failure.

  14. Psychological disorders in adults with inherited cardiomyopathies and Takotsubo syndrome.

    Science.gov (United States)

    Suárez Bagnasco, Mariana; Núñez-Gil, Iván J

    2016-06-03

    We performed a narrative review about psychological disorders in adults with Takotsubo syndrome and inherited cardiomyopathies. Through the electronic database PubMed and PsycINFO we searched all relevant related manuscripts published between 2000 and 2015. We found twelve studies that explore psychological disorders in Takotsubo syndrome and eight about inherited cardiomyopathies: five enrolled patients with hypertrophic cardiomyopathy, two dilated cardiomyopathy, and one arrhythmogenic right ventricular cardiomyopathy. All papers reported the presence of psychological disorders. In Takotsubo syndrome, depression fluctuates between 20.5 and 48% and anxiety was present among 26 and 56%. A study reported that anxiety increases the probability of developing Takotsubo syndrome. In dilated cardiomyopathy, anxiety was present in 50% and depression in 22%. In arrhythmogenic right ventricular cardiomyopathy, younger age, poorer functional capacity and having experienced at least one implantable cardioverter defibrillator shock, were significant independent predictors of both device-specific and generalized anxiety. In hypertrophic cardiomyopathy, anxiety and depression were present in 45.2% and 17.9%, respectively. Thirty seven percent met diagnostic criteria for anxiety disorders and 21% for mood disorders. Nearby half hypertrophic cardiomyopathy patients report triggering of chest pain, dyspnea, and dizziness by emotional stress. Due to the small number of studies, conclusions are limited. However, we discuss some results.

  15. Infant with cardiomyopathy: When to suspect inborn errors of metabolism?

    Institute of Scientific and Technical Information of China (English)

    Stephanie; L; Byers; Can; Ficicioglu

    2014-01-01

    Inborn errors of metabolism are identified in 5%-26% of infants and children with cardiomyopathy. Although fatty acid oxidation disorders, lysosomal and glycogen storage disorders and organic acidurias are well-known to be associated with cardiomyopathies, emerging reports suggest that mitochondrial dysfunction and congenital disorders of glycosylation may also account for a proportion of cardiomyopathies. This review article clarifies when primary care physicians and cardiologists should suspect inborn errors of metabolism in a patient with cardiomyopathy, and refer the patient to a metabolic specialist for a further metabolic work up, with specific discussions of “red flags” which should prompt additional evaluation.

  16. Intrathecal baclofen withdrawal: A rare cause of reversible cardiomyopathy.

    Science.gov (United States)

    Awuor, Stephen O; Kitei, Paul M; Nawaz, Yassir; Ahnert, Amy M

    2016-03-01

    Baclofen is commonly used to treat spasticity of central etiology. Unfortunately, a potentially lethal withdrawal syndrome can complicate its use. This is especially true when the drug is administered intrathecally. There are very few cases of baclofen withdrawal leading to reversible cardiomyopathy described in the literature. The authors present a patient with a history of chronic intrathecal baclofen use who, in the setting of acute baclofen withdrawal, develops laboratory, electrocardiogram, and echocardiogram abnormalities consistent with cardiomyopathy. Upon reinstitution of intrathecal baclofen, the cardiomyopathy and associated abnormalities quickly resolve. Although rare, it is crucial to be aware of this reversible cardiomyopathy to ensure its prompt diagnosis and treatment.

  17. Takotsubo cardiomyopathy in a patient with pituitary adenoma and secondary adrenal insufficiency

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    Georgene Singh

    2015-01-01

    Full Text Available We describe a case of Takotsubo cardiomyopathy in a case of pituitary macroadenoma in acute adrenal crisis. A 48-year-old man presented with acute onset altered sensorium, vomiting, and gasping. On admission, he was unresponsive and hemodynamically unstable. He was intubated and ventilated and resuscitated with fluids and inotropes. The biochemical evaluation revealed hyponatremia, hyperkalemia, and hypocortisolism. Hyponatremia was corrected with 3% hypertonic saline. Contrast enhanced computed tomography (CT scan of the brain revealed a sellar-suprasellar mass with hypothalamic extension with no evidence of pituitary apoplexy. A diagnosis of invasive pituitary adenoma with the Addisonian crisis was made and steroid replacement was initiated. Despite volume resuscitation, he had persistent refractory hypotension, recurrent ventricular tachycardia, and metabolic acidosis. Electrocardiogram (ECG showed ST elevation and T-wave inversion in lateral leads; cardiac-enzymes were increased suggestive of acute coronary syndrome. Transthoracic echocardiography showed severe regional wall motion abnormalities (RWMAs involving left anterior descending territory and low ejection fraction (EF. Coronary angiogram revealed normal coronaries, apical ballooning, and severe left ventricular dysfunction, consistent with a diagnosis of Takotsubo′s cardiomyopathy. Patient was managed with angiotensin-converting enzyme inhibitors and B-blockers. He improved over few days and recovered completely. At discharge, ECG changes and RWMA resolved and EF normalized to 56%. In patients with Addisonian Crisis with persistent hypotension refractory to optimal resuscitation, possibility of Takotsubo′s cardiomyopathy should be considered. Early recognition of association of Takotsubos cardiomyopathy in neurological conditions, prompt resuscitation, and supportive care are essential to ensure favorable outcomes in this potentially lethal condition.

  18. 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)

  19. Noncompaction cardiomyopathy associated with hypogenetic lung

    Institute of Scientific and Technical Information of China (English)

    WU Chang-yan; ZHAO Jing; JIANG Teng-yong; HUANG Xiao-yong

    2007-01-01

    @@ Noncompaction of the ventricular myocardium is a rare form of congenital cardiomyopathy with a high incidence of cardiovascular complications. It frequently manifests in an isolated form, namely isolated noncompaction of the ventricular myocardium. Not only does noncompaction of the ventricular myocardium associate with other congenital cardiac malformations, but also with other neuromuscular disorders. The purpose of this study was to explore the correlation of hypogenetic lung with myocardial noncompaction in terms of the clinical course of one of our patients.

  20. Symmetrical peripheral gangrene associated with peripartum cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Ajay Jaryal

    2013-01-01

    Full Text Available Symmetrical peripheral gangrene (SPG is a rare clinical entity. It was first described in late 19 th century and since then has been reported with array of medical conditions mainly those complicated with shock, sepsis, and disseminated intravascular coagulation (DIC. Here in, we describe a parturient with peripartum cardiomyopathy (PPCM and SPG. Clinicians should be aware of this entity as early recognition can help in reducing morbidity and mortality.

  1. Hypertrophic cardiomyopathy in owl monkeys (Aotus spp.).

    Science.gov (United States)

    Knowlen, Grant G; Weller, Richard E; Perry, Ruby L; Baer, Janet F; Gozalo, Alfonso S

    2013-06-01

    Cardiac hypertrophy is a common postmortem finding in owl monkeys. In most cases the animals do not exhibit clinical signs until the disease is advanced, making antemortem diagnosis of subclinical disease difficult and treatment unrewarding. We obtained echocardiograms, electrocardiograms, and thoracic radiographs from members of a colony of owl monkeys that previously was identified as showing a 40% incidence of gross myocardial hypertrophy at necropsy, to assess the usefulness of these modalities for antemortem diagnosis. No single modality was sufficiently sensitive and specific to detect all monkeys with cardiac hypertrophy. Electrocardiography was the least sensitive method for detecting owl monkeys with hypertrophic cardiomyopathy. Thoracic radiographs were more sensitive than was electrocardiography in this context but cannot detect animals with concentric hypertrophy without an enlarged cardiac silhouette. Echocardiography was the most sensitive method for identifying cardiac hypertrophy in owl monkeys. The most useful parameters suggestive of left ventricular hypertrophy in our owl monkeys were an increased average left ventricular wall thickness to chamber radius ratio and an increased calculated left ventricular myocardial mass. Parameters suggestive of dilative cardiomyopathy were an increased average left ventricular myocardial mass and a decreased average ratio of left ventricular free wall thickness to left ventricular chamber radius. When all 4 noninvasive diagnostic modalities (physical examination, echocardiography, electrocardiography, and thoracic radiography) were used concurrently, the probability of detecting hypertrophic cardiomyopathy in owl monkeys was increased greatly.

  2. Endoplasmic Reticulum Stress and Diabetic Cardiomyopathy

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    Jiancheng Xu

    2012-01-01

    Full Text Available The endoplasmic reticulum (ER is an organelle entrusted with lipid synthesis, calcium homeostasis, protein folding, and maturation. Perturbation of ER-associated functions results in an evolutionarily conserved cell stress response, the unfolded protein response (UPR that is also called ER stress. ER stress is aimed initially at compensating for damage but can eventually trigger cell death if ER stress is excessive or prolonged. Now the ER stress has been associated with numerous diseases. For instance, our recent studies have demonstrated the important role of ER stress in diabetes-induced cardiac cell death. It is known that apoptosis has been considered to play a critical role in diabetic cardiomyopathy. Therefore, this paper will summarize the information from the literature and our own studies to focus on the pathological role of ER stress in the development of diabetic cardiomyopathy. Improved understanding of the molecular mechanisms underlying UPR activation and ER-initiated apoptosis in diabetic cardiomyopathy will provide us with new targets for drug discovery and therapeutic intervention.

  3. STUDY OF PERIPARTUM CARDIOMYOPATHY AT A TERTIARY CARE HOSPITAL

    Directory of Open Access Journals (Sweden)

    Durgaprasad M.

    2016-06-01

    Full Text Available BACKGROUND Peripartum cardiomyopathy is an uncommon form of life-threatening, but potentially treatable heart failure affecting women during peripartum period with devastating consequences. Often missed its early diagnosis and appropriate management can improve the outcome of such patients. OBJECTIVES To study the clinical profile, electrocardiographic and echocardiographic changes in clinically proven cases of peripartum cardiomyopathy. SETTING Women in peripartum period admitted to the Departments of General Medicine and Obstetrics and Gynaecology at Karnataka Institute of Medical Sciences, Hubli. PARTICIPANTS 24 patients, diagnosed to have PPCM, based on the inclusion and exclusion criteria, selected over a period of one and a half year. METHODS Detailed history clinical features and investigations including ECG and Echocardiogram of selected patients at presentation and follow-ups, up to six months were recorded in prestructured proforma and data analysed. RESULTS Results revealed to be 1 per 944 deliveries, mean age 29+5.4 years, mean parity 2.12+0.95.87.5% {21} of patients presented in post-partum and just 12.5% (3 in ante-partum period. All patients presented with dyspnoea. Major ECG finding was Sinus Tachycardia (79.16% followed by normal QRS complex (75% and Left Ventricular Hypertrophy (50%. Ejection fraction was universally reduced. The main complications were Pulmonary Oedema 11(45.83%, Cardiogenic Shock 33.3% (8. As regards to outcome, 25% (6 of the patients with delayed diagnosis and reduced LV function died within first week of admission, the remaining 75% (18 were discharged of which 83.3% (15 recovered completely, while 16.6% (3 among the discharged patients had residual Heart Failure at the end of 6 months. Major therapeutics used were routine drugs used in the treatment of heart failure. INTERPRETATION AND CONCLUSION Peripartum Cardiomyopathy (PPCM is a rare, potentially life-threatening, but treatable illness. Women

  4. 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.

  5. Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.

    Science.gov (United States)

    Ware, James S; Li, Jian; Mazaika, Erica; Yasso, Christopher M; DeSouza, Tiffany; Cappola, Thomas P; Tsai, Emily J; Hilfiker-Kleiner, Denise; Kamiya, Chizuko A; Mazzarotto, Francesco; Cook, Stuart A; Halder, Indrani; Prasad, Sanjay K; Pisarcik, Jessica; Hanley-Yanez, Karen; Alharethi, Rami; Damp, Julie; Hsich, Eileen; Elkayam, Uri; Sheppard, Richard; Kealey, Angela; Alexis, Jeffrey; Ramani, Gautam; Safirstein, Jordan; Boehmer, John; Pauly, Daniel F; Wittstein, Ilan S; Thohan, Vinay; Zucker, Mark J; Liu, Peter; Gorcsan, John; McNamara, Dennis M; Seidman, Christine E; Seidman, Jonathan G; Arany, Zoltan

    2016-01-21

    Background Peripartum cardiomyopathy shares some clinical features with idiopathic dilated cardiomyopathy, a disorder caused by mutations in more than 40 genes, including TTN, which encodes the sarcomere protein titin. Methods In 172 women with peripartum cardiomyopathy, we sequenced 43 genes with variants that have been associated with dilated cardiomyopathy. We compared the prevalence of different variant types (nonsense, frameshift, and splicing) in these women with the prevalence of such variants in persons with dilated cardiomyopathy and with population controls. Results We identified 26 distinct, rare truncating variants in eight genes among women with peripartum cardiomyopathy. The prevalence of truncating variants (26 in 172 [15%]) was significantly higher than that in a reference population of 60,706 persons (4.7%, P=1.3×10(-7)) but was similar to that in a cohort of patients with dilated cardiomyopathy (55 of 332 patients [17%], P=0.81). Two thirds of identified truncating variants were in TTN, as seen in 10% of the patients and in 1.4% of the reference population (P=2.7×10(-10)); almost all TTN variants were located in the titin A-band. Seven of the TTN truncating variants were previously reported in patients with idiopathic dilated cardiomyopathy. In a clinically well-characterized cohort of 83 women with peripartum cardiomyopathy, the presence of TTN truncating variants was significantly correlated with a lower ejection fraction at 1-year follow-up (P=0.005). Conclusions The distribution of truncating variants in a large series of women with peripartum cardiomyopathy was remarkably similar to that found in patients with idiopathic dilated cardiomyopathy. TTN truncating variants were the most prevalent genetic predisposition in each disorder.

  6. Pregnancy-Associated Cardiomyopathy in Survivors of Childhood Cancer

    Science.gov (United States)

    Hines, Melissa R.; Mulrooney, Daniel A.; Hudson, Melissa M.; Ness, Kirsten K.; Green, Daniel M.; Howard, Scott C.; Krasin, Matthew; Metzger, Monika L.

    2015-01-01

    Purpose Current information regarding pregnancy-associated cardiomyopathy among women treated for childhood cancer is insufficient to appropriately guide counseling and patient management. This study aims to characterize its prevalence within a large cohort of females exposed to cardiotoxic therapy. Methods Retrospective cohort study of female cancer survivors treated at St. Jude Children’s Research Hospital between 1963 and 2006, at least 5 years from diagnosis, ≥ 13 years old at last follow-up, and with at least one successful pregnancy. Pregnancy-associated cardiomyopathy was defined as shortening fraction < 28% or ejection fraction < 50% or treatment for cardiomyopathy during or up to 5 months after completion of pregnancy. Results Among 847 female cancer survivors with 1554 completed pregnancies only 3 (0.3%) developed pregnancy-associated cardiomyopathy, 40 developed non-pregnancy-associated cardiomyopathy either 5 months post-partum (n=14), or prior to pregnancy (n=26). Among those with cardiomyopathy prior to pregnancy (n=26), cardiac function deteriorated during pregnancy in 8 patients (3 patients with normalization of cardiac function prior to pregnancy, 3 with persistently abnormal cardiac function, and 2 for whom resolution of cardiomyopathy was unknown prior to pregnancy). Patients that developed cardiomyopathy recevied a higher median dose of anthracyclines compared to those that did not (321 mg/m2 versus 164 mg/m2; p< 0.01). Conclusions Pregnancy-associated cardiomyopathy in childhood cancer survivors is rare. Implications for cancer survivors Most female childhood cancer survivors will have no cardiac complications during or after childbirth, however those with a history of cardiotoxic therapies should be followed carefully during pregnancy particularly those with a history of anthracycline exposures and if they had documented previous or current subclinical or symptomatic cardiomyopathy. Female childhood cancer survivors with a history of

  7. Sheehan's syndrome with reversible dilated cardiomyopathy: A case report and brief overview.

    Science.gov (United States)

    Islam, A K M Monwarul; Hasnat, Mohammad A; Doza, Fatema; Jesmin, Humayra

    2014-04-01

    Sheehan's syndrome is a rare condition characterized by post-partal panhypopituitarism due to necrosis of adenohypophysis resulting from severe post-partum hemorrhage. Lethargy, amenorrhea and failure of lactation are the usual presenting features. Cardiac involvement in Sheehan's syndrome is rare. The case presented here describes dilated cardiomyopathy in a 36-year-old lady who failed to respond adequately to the standard anti-failure treatment. Further investigation revealed the diagnosis of Sheehan's syndrome. Besides other manifestations, cardiac function reverted to normal after giving replacement therapy with glucocorticoid, levothyroxine and sex hormone. Physicians, specially those in developing countries, should have high index of suspicion for the diagnosis of Sheehan's syndrome while dealing with a case of 'peripartal dilated cardiomyopathy'. Persistent amenorrhea and failure of lactation may be important clues in this context. Timely diagnosis and appropriate treatment can lessen the sufferings of the patients.

  8. Biventricular noncompaction cardiomyopathy in a patient presenting with new onset seizure: case report.

    Science.gov (United States)

    Odiete, Oghenerukevwe; Nagendra, Ramanna; Lawson, Mark A; Okafor, Henry

    2012-01-01

    Ventricular noncompaction (VNC) of the myocardium is a rare genetic cardiomyopathy caused by a disorder during endocardial morphogenesis and could be accompanied by life-threatening complications. The major clinical manifestations of VNC are heart failure, arrhythmias, and embolic events. The left ventricle is the most commonly reported affected site, but a few cases of right ventricular involvement have also been reported. We report a case of biventricular noncompaction cardiomyopathy in a 31-year-old woman presenting with a new onset seizure. On the second day of her telemetry-monitored hospitalization, she suffered a witnessed ventricular fibrillation arrest requiring emergency direct-current cardioversion and induced hypothermia. Transthoracic echocardiography (TTE) showed isolated left ventricular (LV) noncompaction and depressed LV systolic function. Subsequent cardiac magnetic resonance imaging (MRI) revealed both left and right ventricular noncompaction. This unusual presentation highlights the importance of a complete and thorough evaluation of patients even when presenting with apparently noncardiac symptom(s).

  9. Extracorporeal membrane oxygenation saved a mother and her son from fulminant peripartum cardiomyopathy.

    Science.gov (United States)

    Park, Sang Hyun; Chin, Jung Yeon; Choi, Min Suk; Choi, Jin Ho; Choi, Yu Jeong; Jung, Kyung Tae

    2014-07-01

    A 34-year-old full-term pregnant woman presented with abruptly aggravating dyspnea. A chest X-ray showed pulmonary edema, and an echocardiogram revealed a left ventricular ejection fraction of 39%. Despite conventional medical treatment for acute heart failure and mechanical ventilation, hypoxia and metabolic acidosis were aggravated, and the fetal heart rate decreased to 90 b.p.m., suggestive of fetal distress. We decided to initiate extracorporeal membrane oxygenation (ECMO) and perform a cesarean section. The infant was successfully delivered without hypoxic brain damage. The patient was weaned from ECMO 6 days after delivery and was extubated 1 day after discontinuation of ECMO. Left ventricular systolic function had completely recovered at this time. This is the first report of a patient with peripartum cardiomyopathy who had a successful delivery with the support of ECMO, demonstrating that ECMO can serve as a rescue therapy, not only treating peripartum cardiomyopathy but also permitting a safe delivery.

  10. Tafamidis for the Treatment of Hereditary Transthyretin Amyloid Cardiomyopathy: A Case Report.

    Science.gov (United States)

    Fujita, Teppei; Inomata, Takayuki; Kaida, Toyoji; Iida, Yuichirou; Ikeda, Yuki; Nabeta, Takeru; Ishii, Shunsuke; Maekawa, Emi; Naruke, Takashi; Koitabashi, Toshimi; Kitamura, Eiji; Sekijima, Yoshiki; Ako, Junya

    2017-02-03

    Tafamidis meglumine is a novel medicine that has been shown to slow the progression of peripheral neurological impairment in patients with hereditary transthyretin amyloidosis (ATTR). However, the efficacy of tafamidis against ATTR-related cardiac amyloidosis remains unclear. A 72-year-old woman had cardiac hypertrophy and axonopathy in her lower legs. Endomyocardial biopsy revealed an infiltrative cardiomyopathy consistent with amyloidosis. Immunostaining and genetic studies confirmed the diagnosis of ATTR, and tafamidis was started subsequently. Two years after the initiation of tafamidis treatment, electromyography demonstrated no change in the axonopathy in her lower legs; however, electrocardiography displayed QRS prolongation, and echocardiography disclosed an increase in interventricular septal thickness. Endomyocardial biopsy indicated that transthyretin amyloid infiltration of the myocardium was not reduced. In this case, there was no apparent progression of axonopathy, although there were signs of worsening amyloid cardiomyopathy during the treatment with tafamidis.

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

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    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.

  12. 3-Methylglutaconyl-Coenzyme-A Hydratase Deficiency and the Development of Dilated Cardiomyopathy

    Science.gov (United States)

    Spergel, Craig D.; Milko, Mariya; Edwards, Christopher; Steinhoff, Jeff P.

    2014-01-01

    A 25-year-old Canadian male with a history of 3-methylglutaconyl-coenzyme-A hydratase deficiency, also known as 3-methylglutaconic aciduria type I, a very rare inborn error of metabolism, presented with respiratory distress, nausea, vomiting and signs of multisystem organ failure due to a suspected underlying infectious process. An electrocardiogram revealed bilateral atrial enlargement and an elevated brain natriuretic peptide on the initial laboratory studies, which prompted a more thorough cardiac workup. The transthoracic echocardiogram revealed a dilated cardiomyopathy with severe systolic dysfunction. The deficient enzyme present in this patient is involved in the pathway of leucine catabolism and is particularly important in various tissues for energy production and sterol synthesis. The dilated cardiomyopathy in this patient possibly had a variety of potential mechanisms including: a mitochondrial myopathy due to the deficiency of this enzyme leading to a defect in energy production inside cardiac myocytes; or a direct toxicity from 3-methylglutaconic acid (3-MGA) and its toxic metabolites; or a cardiac dysfunction due to a variety of other potential mechanisms. In conclusion, this patient’s clinical presentation suggested that 3-methylglutaconyl-CoA hydratase deficiency could cause a severe dilated cardiomyopathy and heart failure.

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

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    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

  14. Genetic variation in exon 5 of troponin - I gene in hypertrophic cardiomyopathy cases

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    Annapurna S

    2007-01-01

    Full Text Available Background: Cardiomyopathies are a heterogeneous group of heart muscle disorders and are classified as 1 Hypertrophic Cardiomyopathy (HCM 2 Dilated cardiomyopathy (DCM 3 Restrictive cardiomyopathy (RCM and 4 Arrhythmogenic right ventricular dysplasia (ARVD as per WHO classification, of which HCM and DCM are common. HCM is a complex but relatively common form of inherited heart muscle disease with prevalence of 1 in 500 individuals and is commonly associated with sarcomeric gene mutations. Cardiac muscle troponin I (TNNI-3 is one such sarcomeric protein and is a subunit of the thin filament-associated troponin-tropomyosin complex involved in calcium regulation of skeletal and cardiac muscle contraction. Mutations in this gene were found to be associated with a history of sudden cardiac death in HCM patients. Aim: Therefore the present study aims to identify for mutations associated with troponin I gene in a set of HCM patients from Indian population. Materials and Methods: Mutational analyses of 92 HCM cases were carried out following PCR based SSCP analysis. Results: The study revealed band pattern variation in 3 cases from a group of 92 HCM patients. This band pattern variation, on sequencing revealed base changes, one at nt 2560 with G>T transversion in exon-5 region with a wobble and others at nt 2479 and nt 2478 with G>C and C>G transversions in the intronic region upstream of the exon 5 on sequencing. Further analysis showed that one of the probands showed apical form of hypertrophy, two others showing asymmetric septal hypertrophy. Two of these probands showed family history of the condition. Conclusions: Hence, the study supports earlier reports of involvement of TNNI-3 in the causation of apical and asymmetrical forms of hypertrophy.

  15. Hypertrophic Cardiomyopathy Registry: The rationale and design of an international, observational study of hypertrophic cardiomyopathy.

    Science.gov (United States)

    Kramer, Christopher M; Appelbaum, Evan; Desai, Milind Y; Desvigne-Nickens, Patrice; DiMarco, John P; Friedrich, Matthias G; Geller, Nancy; Heckler, Sarahfaye; Ho, Carolyn Y; Jerosch-Herold, Michael; Ivey, Elizabeth A; Keleti, Julianna; Kim, Dong-Yun; Kolm, Paul; Kwong, Raymond Y; Maron, Martin S; Schulz-Menger, Jeanette; Piechnik, Stefan; Watkins, Hugh; Weintraub, William S; Wu, Pan; Neubauer, Stefan

    2015-08-01

    Hypertrophic cardiomyopathy (HCM) is the most common monogenic heart disease with a frequency as high as 1 in 200. In many cases, HCM is caused by mutations in genes encoding the different components of the sarcomere apparatus. Hypertrophic cardiomyopathy is characterized by unexplained left ventricular hypertrophy, myofibrillar disarray, and myocardial fibrosis. The phenotypic expression is quite variable. Although most patients with HCM are asymptomatic, serious consequences are experienced in a subset of affected individuals who present initially with sudden cardiac death or progress to refractory heart failure. The Hypertrophic Cardiomyopathy Registry study is a National Heart, Lung, and Blood Institute-sponsored 2,750-patient, 44-site, international registry and natural history study designed to address limitations in extant evidence to improve prognostication in HCM (NCT01915615). In addition to the collection of standard demographic, clinical, and echocardiographic variables, patients will undergo state-of-the-art cardiac magnetic resonance for assessment of left ventricular mass and volumes as well as replacement scarring and interstitial fibrosis. In addition, genetic and biomarker analyses will be performed. The Hypertrophic Cardiomyopathy Registry has the potential to change the paradigm of risk stratification in HCM, using novel markers to identify those at higher risk.

  16. Potential genetic predisposition for anthracycline-associated cardiomyopathy in families with dilated cardiomyopathy

    NARCIS (Netherlands)

    Wasielewski, Marijke; van Spaendonck-Zwarts, Karin Y; Westerink, Nico-Derk L; Jongbloed, Jan D H; Postma, Aleida; Gietema, Jourik A; van Tintelen, J Peter; van den Berg, Maarten P

    2014-01-01

    OBJECTIVE: Anthracyclines are successfully used in cancer treatment, but their use is limited by their cardiotoxic side effects. Several risk factors for anthracycline-associated cardiomyopathy (AACM) are known, yet the occurrence of AACM in the absence of these known risk factors suggests that othe

  17. CELF4 Variant and Anthracycline-Related Cardiomyopathy: A Children’s Oncology Group Genome-Wide Association Study

    Science.gov (United States)

    Wang, Xuexia; Sun, Can-Lan; Quiñones-Lombraña, Adolfo; Singh, Purnima; Landier, Wendy; Hageman, Lindsey; Mather, Molly; Rotter, Jerome I.; Taylor, Kent D.; Chen, Yii-Der Ida; Armenian, Saro H.; Winick, Naomi; Ginsberg, Jill P.; Neglia, Joseph P.; Oeffinger, Kevin C.; Castellino, Sharon M.; Dreyer, Zoann E.; Hudson, Melissa M.; Robison, Leslie L.; Blanco, Javier G.

    2016-01-01

    Purpose Interindividual variability in the dose-dependent association between anthracyclines and cardiomyopathy suggests that genetic susceptibility could play a role. The current study uses an agnostic approach to identify genetic variants that could modify cardiomyopathy risk. Methods A genome-wide association study was conducted in childhood cancer survivors with and without cardiomyopathy (cases and controls, respectively). Single-nucleotide polymorphisms (SNPs) that surpassed a prespecified threshold for statistical significance were independently replicated. The possible mechanistic significance of validated SNP(s) was sought by using healthy heart samples. Results No SNP was marginally associated with cardiomyopathy. However, SNP rs1786814 on the CELF4 gene passed the significance cutoff for gene-environment interaction (Pge = 1.14 × 10−5). Multivariable analyses adjusted for age at cancer diagnosis, sex, anthracycline dose, and chest radiation revealed that, among patients with the A allele, cardiomyopathy was infrequent and not dose related. However, among those exposed to greater than 300 mg/m2 of anthracyclines, the rs1786814 GG genotype conferred a 10.2-fold (95% CI, 3.8- to 27.3-fold; P < .001) increased risk of cardiomyopathy compared with those who had GA/AA genotypes and anthracycline exposure of 300 mg/m2 or less. This gene-environment interaction was successfully replicated in an independent set of anthracycline-related cardiomyopathy. CUG-BP and ETR-3-like factor proteins control developmentally regulated splicing of TNNT2, the gene that encodes for cardiac troponin T (cTnT), a biomarker of myocardial injury. Coexistence of more than one cTnT variant results in a temporally split myofilament response to calcium, which causes decreased contractility. Analysis of TNNT2 splicing variants in healthy human hearts suggested an association between the rs1786814 GG genotype and coexistence of more than one TNNT2 splicing variant (90.5% GG v 41.7% GA

  18. Peripartum cardiomyopathy coexistent with human immunodeficiency virus: A substantial obstetric jeopardy

    Directory of Open Access Journals (Sweden)

    Debasmita Mandal

    2013-01-01

    Full Text Available Peripartum cardiomyopathy (PPCM is a rare cause of pregnancy-related heart failure, which affects a woman during the last months of pregnancy or first months of parturition. Its etiopathogenesis is still unclear. Coexistence of PPCM with human immunodeficiency virus (HIV has been scarcely analyzed. A low CD4 count is proposed to be one of the predictors of dilated cardiomyopathy in HIV. Here, a pregnant woman with HIV presented with signs of congestive heart failure for the first time during her last trimester. Echocardiography revealed a dilated cardiomyopathy with ejection fraction of 34% which proved the diagnosis of PPCM. She underwent cesarean section for impending previous scar rupture. Her status deteriorated subsequently in spite of all efforts and she succumbed due to ventricular tachycardia. This case necessitates an awareness regarding coexistence of HIV with PPCM and dreaded clinical sequences. Patients suffering from HIV should be treated well and their CD4 count should be improved before conception to avoid such complications in pregnancy.

  19. Comparison of Calcitonin Gene Related Peptide Level between Children with Dilated Cardiomyopathy and Control Group

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    Noormohammad Noori

    2015-06-01

    Full Text Available Background: Dilated cardiomyopathy is revealed with left ventricular dilatation and systolic dysfunction. Objectives: This study aimed to compare the children with dilated cardiomyopathy and control group regarding the level of Calcitonin Gene Related Peptide (CGRP and its relationship with echocardiography findings Patients and Methods: This case-control study was conducted on 37 children with dilated cardiomyopathy and free of any clinical symptoms and 37 healthy age- and sex-matched children referring to Ali-e-Asghar and Ali Ebne Abitaleb hospitals in Zahedan, Iran. After taking history, echocardiography was performed for both groups. The data were analyzed using the SPSS statistical software and appropriate statistical tests. Results: The two groups were significantly different regarding most of the echocardiographic parameters (P < 0.05. Also, a significant difference was found between the two groups concerning the mean CGRP levels (P = 0.001. Among echocardiographic parameters, CGRP was directly related to Interventricular Septal dimension in Systole (IVSS (P = 0.022, R = 0.375. However, no significant relationship was observed between CGRP level and Ross classification. Conclusions: The findings of this study showed an increase in CGRP serum levels in the case group. Besides, a direct correlation was observed between CGRP level and IVSS.

  20. Peripartum cardiomyopathy coexistent with human immunodeficiency virus: a substantial obstetric jeopardy.

    Science.gov (United States)

    Mandal, Debasmita; Dattaray, Chaitalli; Dutta, Mousumi; Sarkar, Gouranga; Sinha, Pooja

    2013-01-01

    Peripartum cardiomyopathy (PPCM) is a rare cause of pregnancy-related heart failure, which affects a woman during the last months of pregnancy or first months of parturition. Its etiopathogenesis is still unclear. Coexistence of PPCM with human immunodeficiency virus (HIV) has been scarcely analyzed. A low CD4 count is proposed to be one of the predictors of dilated cardiomyopathy in HIV. Here, a pregnant woman with HIV presented with signs of congestive heart failure for the first time during her last trimester. Echocardiography revealed a dilated cardiomyopathy with ejection fraction of 34% which proved the diagnosis of PPCM. She underwent cesarean section for impending previous scar rupture. Her status deteriorated subsequently in spite of all efforts and she succumbed due to ventricular tachycardia. This case necessitates an awareness regarding coexistence of HIV with PPCM and dreaded clinical sequences. Patients suffering from HIV should be treated well and their CD4 count should be improved before conception to avoid such complications in pregnancy.

  1. Reversible dilated cardiomyopathy due to subclinical hyperthyroidism.

    Science.gov (United States)

    Tsarouhas, Kostantinos; Kafantaris, Ioannis; Antonakopoulos, Athanasios; Vavetsi, Spiridoula; Pavlidis, Pavlos; Constantinou, Loizos L

    2010-01-01

    We present a patient without primary heart disease in whom subclinical hyperthyroidism was accompanied by manifestations of dilated cardiomyopathy, as evaluated by echocardiography, coronary angiography, and radionuclide ventriculography. His condition was reversed 6 months after conventional treatment (furosemide, carvedilol, angiotensin-converting-enzyme inhibitor and thiamazole administration). This patient represents an exceptional case, as overt congestive heart failure with left ventricular dilatation and depressed ventricular ejection fraction is not a common finding in patients with hyperthyroidism, let alone patients with subclinical hyperthyroidism and no underlying heart disease.

  2. Dilated cardiomyopathy and inclusion body myositis.

    Science.gov (United States)

    Ballo, Piercarlo; Chiodi, Leandro; Cameli, Matteo; Malandrini, Alessandro; Federico, Antonio; Mondillo, Sergio; Zuppiroli, Alfredo

    2012-04-01

    Inclusion body myositis (IBM) is the most common inflammatory myopathy after 50 years of age. In contrast to polymyositis and dermatomyositis, in which cardiac involvement is relatively common, current evidences indicate that IBM is not associated with cardiac disease. We report the case of a patient with biopsy-proven IBM who developed heart failure and major ventricular arrhythmias secondary to dilated cardiomyopathy few months after the clinical onset of IBM, and in whom no pathophysiologic causes explaining cardiac enlargement and dysfunction were found by laboratory and instrumental investigations. The hypothesis of a pathophysiologic association between the two conditions is discussed.

  3. An obstetric emergency called peripartum cardiomyopathy!

    Directory of Open Access Journals (Sweden)

    Shaikh Nissar

    2010-01-01

    Full Text Available Peripartum cardiomyopathy (PPCM is a rare obstetric emergency affecting women in late pregnancy or up to five months of postpartum period. The etiology of PPCM is still not known. It has potentially devastating effects on mother and fetus if not treated early. The signs, symptoms and treatment of PPCM are similar to that of heart failure. Early diagnosis and proper management is the corner stone for better outcome of these patients. The only way to prevent PPCM is to avoid further pregnancies.

  4. Heart Failure with Multi-organ Thrombosis: A Case of Antiphospholipid Syndrome Co-existing with Cardiomyopathy

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    Xueqi Li and Shipeng Wei

    2012-09-01

    Full Text Available Antiphospholipid Syndrome (APS is an autoimmune disease featured by venous or arterial thrombosis, fetal losses and thrombocytopenia in the presence of antiphospholipid antibodies. Here we reported one case of antiphospholipid syndrome together with dilated cardiomyopathy. A 46-year-old female patient complaining short of breath was found enlargement of atrial and ventricular compartments. The ecletrocardiogram and blood test revealed anteroseptal myocardial infarction, while no pulmonary thrombosis was present and therefore diagnosis of dilated cardiomyopathy was made. There were also thrombi formed in the cardial chambers and deep venous. During hospitalization, there was an onset of ischemic brain stroke and head MRI showed newly developed small infarctions. An elevation of anticardiolipin immunoglobulin A (ACAIGA was detected from the blood sample. The patient was discharged after being treated with anticoagulant, corticosteroid and other medicines for improving heart function. In our case, APS is the basic cause leading to multi-organ thrombosis and heart failure is mainly due to dilated cardiomyopathy, thus independent of APS. So this is the first time that cardiomyopathy co-existing with APS was reported.

  5. Becker Muscular Dystrophy (BMD) caused by duplication of exons 3-6 of the dystrophin gene presenting as dilated cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Tsai, A.C.; Allingham-Hawkins, D.J.; Becker, L. [Univ. of Toronto, Ontario (Canada)] [and others

    1994-09-01

    X-linked dilated cardiomyopathy (XLCM) is a progressive myocardial disease presenting with congestive heart failure in teenage males without clinical signs of skeletal myopathy. Tight linkage of XLCM to the DMD locus has been demonstrated; it has been suggested that, at least in some families, XLCM is a {open_quotes}dystrophinopathy.{close_quotes} We report a 14-year-old boy who presented with acute heart failure due to dilated cardiomyopathy. He had no history of muscle weakness, but physical examination revealed pseudohypertrophy of the calf muscles. He subsequently received a heart transplantation. Family history was negative. Serum CK level at the time of diagnosis was 10,416. Myocardial biopsy showed no evidence of carditis. Dystrophin staining of cardiac and skeletal muscle with anti-sera to COOH and NH{sub 2}termini showed a patchy distribution of positivity suggestive of Becker muscular dystrophy. Analysis of 18 of the 79 dystrophin exons detected a duplication that included exons 3-6. The proband`s mother has an elevated serum CK and was confirmed to be a carrier of the same duplication. A mutation in the muscle promotor region of the dystrophin gene has been implicated in the etiology of SLCM. However, Towbin et al. (1991) argued that other 5{prime} mutations in the dystrophin gene could cause selective cardiomyopathy. The findings in our patient support the latter hypothesis. This suggests that there are multiple regions in the dystrophin gene which, when disrupted, can cause isolated dilated cardiomyopathy.

  6. Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical assessment.

    Science.gov (United States)

    Lupsa, Beatrice C; Sachdev, Vandana; Lungu, Andreea O; Rosing, Douglas R; Gorden, Phillip

    2010-07-01

    Lipodystrophy is a rare disorder characterized by loss of adipose tissue and low leptin levels. This condition is characterized by severe dyslipidemia, insulin resistance, diabetes mellitus, and steatohepatitis. Another phenotypic feature that occurs with considerable frequency in generalized lipodystrophy is cardiomyopathy. We report here the cardiac findings in a cohort of patients with generalized congenital and acquired lipodystrophy, and present a literature review of the cardiac findings in patients with generalized lipodystrophy. We studied 44 patients with generalized congenital and acquired lipodystrophy, most of them enrolled in a clinical trial of leptin therapy. Patients underwent electrocardiograms and transthoracic echocardiograms to evaluate their cardiac status. We followed these patients for an extended time period, some of them up to 8 years. Evaluation of our cohort of patients with generalized lipodystrophy shows that cardiomyopathy is a frequent finding in this population. Most of our patients had hypertrophic cardiomyopathy, and only a small number had features of dilated cardiomyopathy. Hypertrophic cardiomyopathy was more frequent in patients with seipin mutation, a finding consistent with the literature. The underlying mechanism for cardiomyopathy in lipodystrophy is not clear. Extreme insulin resistance and the possibility of a "lipotoxic cardiomyopathy" should be entertained as possible explanations.

  7. Role of hepatitis C virus in myocarditis and cardiomyopathies

    Institute of Scientific and Technical Information of China (English)

    Akira Matsumori

    2004-01-01

    Recent nationwide clinico-epidemiological surveys in Japan showed that the occurrence of cardiomyopathies was most frequently seen in the age of sixties, and that cardiomyopathies are important causes of heart failure in the elderly. Viral infection was conventionally considered to cause myocarditis, which resulted in the development of dilated cardiomyopathy. Recent studies suggest that hepatitis C virus (HCV) is involved in the development of dilated cardiomyopathy, hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy in addition to myocarditis. Furthermore, left ventricular aneurysm represents the same morbid state not only after myocardial infarction but also after myocarditis. There were wide variations in the frequency of detection of HCV genomes in cardiomyopathy in different regions and in different populations. Major histocompatibility complex class Ⅱ genes may play a role in the susceptibility to HCV infection, and may influence the development of different phenotypes of cardiomyopathy. If in fact the myocardial damage is caused by HCV, it might be expected that interferon (IFN) administration would be useful for its treatment. Hepatitis patients receiving IFN treatment for hepatitis were screened by thallium myocardial scintigraphy, and an abnormality was discovered in half of the patients. Treatment with IFN resulted in a disappearance of the image abnormality. It has thus been suggested that mild myocarditis and myocardial damage may be cured with IFN. We have recently found that high concentrations of circulating cardiac troponin T are a specific marker of cardiac involvement in HCV infection. By measuring cardiac troponin T in patients with HCV infection, the prevalence of cardiac involvement in HCV infection will be clarified. We are proposing a collaborative work on a global network on myocarditis/cardiomyopathies due to HCV infection. (J Geriatr Cardiol 2004;1(2):83-89. )

  8. The Mutations Associated with Dilated Cardiomyopathy

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    Ruti Parvari

    2012-01-01

    Full Text Available Cardiomyopathy is an important cause of heart failure and a major indication for heart transplantation in children and adults. This paper describes the state of the genetic knowledge of dilated cardiomyopathy (DCM. The identification of the causing mutation is important since presymptomatic interventions of DCM have proven value in preventing morbidity and mortality. Additionally, as in general in genetic studies, the identification of the mutated genes has a direct clinical impact for the families and population involved. Identifying causative mutations immediately amplifies the possibilities for disease prevention through carrier screening and prenatal testing. This often lifts a burden of social isolation from affected families, since healthy family members can be assured of having healthy children. Identification of the mutated genes holds the potential to lead to the understanding of disease etiology, pathophysiology, and therefore potential therapy. This paper presents the genetic variations, or disease-causing mutations, contributing to the pathogenesis of hereditary DCM, and tries to relate these to the functions of the mutated genes.

  9. Pathophysiology and epidemiology of peripartum cardiomyopathy.

    Science.gov (United States)

    Hilfiker-Kleiner, Denise; Sliwa, Karen

    2014-06-01

    Cardiovascular diseases are a major cause of complications in pregnancy worldwide, and the number of patients who develop cardiac problems during pregnancy is increasing. Peripartum cardiomyopathy (PPCM) is a potentially life-threatening heart disease that emerges towards the end of pregnancy or in the first months postpartum, in previously healthy women. Symptoms and signs of PPCM are similar to those in patients with idiopathic dilated cardiomyopathy. The incidence varies geographically, most likely because of socioeconomic and genetic factors. The syndrome is associated with a high morbidity and mortality, and diagnosis is often delayed. Various mechanisms have been investigated, including the hypothesis that unbalanced peripartum or postpartum oxidative stress triggers the proteolytic cleavage of the nursing hormone prolactin into a potent antiangiogenic, proapoptotic, and proinflammatory 16 kDa fragment. This theory provides the basis for the discovery of disease-specific biomarkers and promising novel therapeutic targets. In this Review, we describe the latest understanding of the epidemiology, pathophysiology, and novel treatment strategies for patients with PPCM.

  10. Peripartum cardiomyopathy: a challenge for cardiologist.

    Science.gov (United States)

    Aursulesei, Viviana

    2013-01-01

    Peripartum cardiomyopathy (PPCM) is a rare but potentially life-threatening condition that occurs in previously healthy women during the last month of pregnancy and up to 5-6 months postpartum. The etiology and pathophysiology remain uncertain, although recent observations strongly suggest the specific role of prolactin cleavage secondary to unbalanced peri/postpartum oxidative stress. PPCM is a diagnosis of exclusion, as it shares many clinical characteristics with other forms of systolic heart failure secondary to cardiomyopathy. The management of heart failure requires a multidisciplinary approach during pregnancy, considering the possible adverse effects on the fetus. After delivery, the treatment is in accordance with the current guidelines for heart failure. Some novel therapies, such as prolactin blockade, are proposed to either prevent or treat the patients with PPCM. A critical individual counseling concerning the risks of subsequent pregnancy must be considered. Because of its rare incidence, geographical differences, and heterogeneous presentation, PPCM continues to be incompletely characterized and understood. For all these reasons, PPCM remains a challenge in clinical practice, so future epidemiological trials and national registries are needed to learn more about the disease.

  11. Phidippides cardiomyopathy: a review and case illustration.

    Science.gov (United States)

    Trivax, Justin E; McCullough, Peter A

    2012-02-01

    Phidippides was a Greek messenger who experienced sudden death after running more than 175 miles in two days. In today's world, marathon running and other endurance sports are becoming more popular and raising concern about sudden deaths at these events. Once etiologies such has hypertrophic cardiomyopathy, anomalous coronary arteries, and coronary atherosclerosis have been excluded, there is now an additional consideration termed Phidippides cardiomyopathy. Because endurance sports call for a sustained increase in cardiac output for several hours, the heart is put into a state of volume overload. It has been shown that approximately one-third of marathon runners experience dilation of the right atrium and ventricle, have elevations of cardiac troponin and natriuretic peptides, and in a smaller fraction later develop small patches of cardiac fibrosis that are the likely substrate for ventricular tachyarrhythmias and sudden death. Cardiac magnetic resonance imaging is emerging as the diagnostic test of choice for this condition. This review and case report summarizes the key features of this newly appreciated disorder.

  12. Barth Syndrome: Connecting Cardiolipin to Cardiomyopathy.

    Science.gov (United States)

    Ikon, Nikita; Ryan, Robert O

    2017-02-01

    The Barth syndrome (BTHS) is caused by an inborn error of metabolism that manifests characteristic phenotypic features including altered mitochondrial membrane phospholipids, lactic acidosis, organic acid-uria, skeletal muscle weakness and cardiomyopathy. The underlying cause of BTHS has been definitively traced to mutations in the tafazzin (TAZ) gene locus on chromosome X. TAZ encodes a phospholipid transacylase that promotes cardiolipin acyl chain remodeling. Absence of tafazzin activity results in cardiolipin molecular species heterogeneity, increased levels of monolysocardiolipin and lower cardiolipin abundance. In skeletal muscle and cardiac tissue mitochondria these alterations in cardiolipin perturb the inner membrane, compromising electron transport chain function and aerobic respiration. Decreased electron flow from fuel metabolism via NADH ubiquinone oxidoreductase activity leads to a buildup of NADH in the matrix space and product inhibition of key TCA cycle enzymes. As TCA cycle activity slows pyruvate generated by glycolysis is diverted to lactic acid. In turn, Cori cycle activity increases to supply muscle with glucose for continued ATP production. Acetyl CoA that is unable to enter the TCA cycle is diverted to organic acid waste products that are excreted in urine. Overall, reduced ATP production efficiency in BTHS is exacerbated under conditions of increased energy demand. Prolonged deficiency in ATP production capacity underlies cell and tissue pathology that ultimately is manifest as dilated cardiomyopathy.

  13. Stem Cell-Based Therapies in Chagasic Cardiomyopathy

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    Antonio Carlos Campos de Carvalho

    2015-01-01

    Full Text Available Chagas disease is caused by Trypanosoma cruzi and can lead to a dilated cardiomyopathy decades after the prime infection by the parasite. As with other dilated cardiomyopathies, conventional pharmacologic therapies are not always effective and as heart failure progresses patients need heart transplantation. Therefore alternative therapies are highly desirable and cell-based therapies have been investigated in preclinical and clinical studies. In this paper we review the main findings of such studies and discuss future directions for stem cell-based therapies in chronic chagasic cardiomyopathy.

  14. Dilated cardiomyopathy in an American cocker spaniel with taurine deficiency.

    Science.gov (United States)

    Gavaghan, B J; Kittleson, M D

    1997-12-01

    An American Cocker Spaniel with low plasma taurine concentration (taurine. Improvement in all echocardiographic indices were noted over a 22 week follow-up, most notably an increase in left ventricular shortening fraction to 20%, a decrease of E-point septal separation from 14 mm to 7 mm and marked left ventricular remodelling. This degree of improvement in myocardial function may represent a direct link between dilated cardiomyopathy in the American Cocker Spaniel and plasma taurine deficiency. Alternatively, this response may reflect a breed-related cardiomyopathy with a natural history and therapeutic response not commonly seen in the more common large breed cardiomyopathy presentations.

  15. Coexistence of Digenic Mutations in Both Thin (TPM1) and Thick (MYH7) Filaments of Sarcomeric Genes Leads to Severe Hypertrophic Cardiomyopathy in a South Indian FHCM.

    Science.gov (United States)

    Selvi Rani, Deepa; Nallari, Pratibha; Dhandapany, Perundurai S; Rani, Jhansi; Meraj, Khunza; Ganesan, Mala; Narasimhan, Calambur; Thangaraj, Kumarasamy

    2015-05-01

    Mutations in sarcomeric genes are the leading cause for cardiomyopathies. However, not many genetic studies have been carried out on Indian cardiomyopathy patients. We performed sequence analyses of a thin filament sarcomeric gene, α-tropomyosin (TPM1), in 101 hypertrophic cardiomyopathy (HCM) patients and 147 dilated cardiomyopathy (DCM) patients against 207 ethnically matched healthy controls, revealing 13 single nucleotide polymorphisms (SNPs). Of these, one mutant, S215L, was identified in two unrelated HCM cases-patient #1, aged 44, and patient #2, aged 65-and was cosegregating with disease in these families as an autosomal dominant trait. In contrast, S215L was completely absent in 147 DCM and 207 controls. Patient #1 showed a more severe disease phenotype, with poor prognosis and a family history of sudden cardiac death, than patient #2. Therefore, these two patients and the family members positive for S215L were further screened for variations in MYH7, MYBPC3, TNNT2, TNNI3, MYL2, MYL3, and ACTC. Interestingly, two novel thick filaments, D896N (homozygous) and I524K (heterozygous) mutations, in the MYH7 gene were identified exclusively in patient #1 and his family members. Thus, we strongly suggest that the coexistence of these digenic mutations is rare, but leads to severe hypertrophy in a South Indian familial hypertrophic cardiomyopathy (FHCM).

  16. Takotsubo cardiomyopathy, a new concept of cardiomyopathy: clinical features and pathophysiology.

    Science.gov (United States)

    Yoshikawa, Tsutomu

    2015-03-01

    Takotsubo cardiomyopathy, a new concept of cardiomyopathy, is characterized by transient cardiac dysfunction, commonly triggered by physical or emotional stress. Differential diagnosis is important, since takotsubo cardiomyopathy presents similar images to those shown in acute coronary syndrome, with ST-segment elevation, T-wave inversion, QT-prolongation, and others on electrocardiogram. Typically, apical involvement with hypercontraction of basal left ventricle (apical type) is predominant, but atypical types involving basal, mid-ventricular, and right ventricular myocardium are also described. In-hospital death occurs at similar level with patients with acute coronary syndrome, but it is significantly affected by underlying diseases. This disease presents diverse cardiac complications in acute phase, such as life-threatening ventricular arrhythmias, pump failure, cardiac rupture, and systemic embolism. The pathogenic mechanism of this disease is still unclear but sympathetic hyperactivity, as well as coronary vasospasm, microcirculatory disorder, and estrogen deficiency, have been considered as one of the most likely pathogenic mechanism. Long-term prognosis is also largely unknown. Issues such as establishment of acute phase treatment, prediction of cardiac complications, and prophylactic measures against recurrence need to be further explored.

  17. Peripartum cardiomyopathy presenting with syncope due to Torsades de pointes: a case of long QT syndrome with a novel KCNH2 mutation.

    Science.gov (United States)

    Nishimoto, Orie; Matsuda, Morihiro; Nakamoto, Kei; Nishiyama, Hirohiko; Kuraoka, Kazuya; Taniyama, Kiyomi; Tamura, Ritsu; Shimizu, Wataru; Kawamoto, Toshiharu

    2012-01-01

    Peripartum cardiomyopathy (PPCM) is a cardiomyopathy of unknown cause that occurs in the peripartum period. We report a case of PPCM presenting with syncope 1 month after an uncomplicated delivery. Electrocardiography showed Torsades de pointes (TdP) and QT interval prolongation. Echocardiography showed left ventricular systolic dysfunction and endomyocardial biopsy showed myocyte degeneration and fibrosis. Administration of magnesium sulfate and temporary pacing eliminated recurrent TdP. Genetic analyses revealed that recurrent TdP occurred via electrolyte disturbance and cardiac failure due to PPCM on the basis of a novel mutation in KCNH2, a gene responsible for inherited type 2 long QT syndrome.

  18. Application of Echocardiography on Transgenic Mice with Cardiomyopathies

    Directory of Open Access Journals (Sweden)

    G. Chen

    2012-01-01

    Full Text Available Cardiomyopathies are common cardiac disorders that primarily affect cardiac muscle resulting in cardiac dysfunction and heart failure. Transgenic mouse disease models have been developed to investigate the cellular mechanisms underlying heart failure and sudden cardiac death observed in cardiomyopathy cases and to explore the therapeutic outcomes in experimental animals in vivo. Echocardiography is an essential diagnostic tool for accurate and noninvasive assessment of cardiac structure and function in experimental animals. Our laboratory has been among the first to apply high-frequency research echocardiography on transgenic mice with cardiomyopathies. In this work, we have summarized our and other studies on assessment of systolic and diastolic dysfunction using conventional echocardiography, pulsed Doppler, and tissue Doppler imaging in transgenic mice with various cardiomyopathies. Estimation of embryonic mouse hearts has been performed as well using this high-resolution echocardiography. Some technical considerations in mouse echocardiography have also been discussed.

  19. Science and practice of arrhythmogenic cardiomyopathy: A paradigm shift

    Directory of Open Access Journals (Sweden)

    Mohamed ElMaghawry

    2012-03-01

    Full Text Available The clinical, genetic, and molecular paradigm of arrhythmogenic right ventricular cardiomyopathy (ARVC has markedly progressed through the last three decades, shifting from the classical ARVC as a progressive condition characterized by fibrofatty replacement of the right ventricle,2,3,4 into a wider spectrum of arrhythmogenic cardiomyopathy (AC,5 which covers ARVC with its various clinical phases (occult, electric, right heart failure and late stage biventricular heart failure, biventricular arrhythmic cardiomyopathy, left dominant arrhythmic cardiomyopathy, Naxos and Carvajal syndromes. Epidemiologically, the disease was first associated with the Mediterranean basin (mainly Italy and France, however further studies have reported AC in many races and ethnic backgrounds6,7,8. Moreover, with regard to the pathoitiology of the disease, dysplasia was originally assumed as the disease mechanism. Other mechanisms were later postulated, such as inflammation and transdifferentiation. However, more recent animal models have established that dystrophy, either by myocyte necrosis or apoptosis, is the founding pathological process of AC.

  20. Takotsubo Cardiomyopathy “Variations on a Theme”

    Directory of Open Access Journals (Sweden)

    Kjell Bogaard

    2011-01-01

    Full Text Available Takotsubo Cardiomyopathy (TTC is a fairly new diagnosis in the cardiologist's repertoire. It can present itself in multiple different forms. We describe three cases of TTC with different etiologies illustrating the broad spectrum of presentations.

  1. Development of neurogenic stress cardiomyopathy after fourth ventricle tumor surgery

    Directory of Open Access Journals (Sweden)

    D. A. Doroshenko

    2014-07-01

    Full Text Available The paper describes a clinical case of the development of neurogenic stress cardiomyopathy that had the characteristics of Takotsubo cardiomyopathyin a young female patient in the early periods after fourth ventricle tumor surgery.

  2. Development of neurogenic stress cardiomyopathy after fourth ventricle tumor surgery

    Directory of Open Access Journals (Sweden)

    D. A. Doroshenko

    2012-01-01

    Full Text Available The paper describes a clinical case of the development of neurogenic stress cardiomyopathy that had the characteristics of Takotsubo cardiomyopathyin a young female patient in the early periods after fourth ventricle tumor surgery.

  3. Noncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease

    Directory of Open Access Journals (Sweden)

    Sherif Ali Eltawansy

    2015-01-01

    Full Text Available We report a case of a 53-year-old female presenting with a new-onset heart failure that was contributed secondary to noncompaction cardiomyopathy. The diagnosis was made by echocardiogram and confirmed by cardiac MRI. Noncompaction cardiomyopathy (also known as ventricular hypertrabeculation is a newly discovered disease. It is considered to be congenital (genetic cardiomyopathy. It is usually associated with genetic disorders and that could explain the genetic pathogenesis of the non-compaction cardiomyopathy. Our case had a history of Charcot-Marie-Tooth disease. There is a high incidence of arrhythmia and embolic complications. The treatment usually consists of the medical management, defibrillator placement, and lifelong anticoagulation. Heart transplantation will be the last resort.

  4. Telomere shortening and telomerase activity in ischaemic cardiomyopathy patients

    DEFF Research Database (Denmark)

    Sawhney, V; Campbell, N G; Brouilette, S W

    2016-01-01

    BACKGROUND: Implantable cardioverter defibrillators (ICDs) reduce mortality in patients with ischaemic cardiomyopathy at high risk of ventricular arrhythmias (VA). However, the current indication for ICD prescription needs improvement. Telomere and telomerase in leucocytes have been shown to asso...

  5. New ECG Criteria in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

    NARCIS (Netherlands)

    M.G.P.J. Cox; J.J. van der Smagt; A.A.M. Wilde; A.C.P. Wiesfeld; D.E. Atsma; M.R. Nelen; L.M. Rodriguez; P. Loh; M.J. Cramer; P.A. Doevendans; J.P. van Tintelen; J.M.T. de Bakker; R.N.W. Hauer

    2009-01-01

    Background-Desmosomal changes, electric uncoupling, and surviving myocardial bundles in fibrofatty tissue characterize arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). Resultant activation delay is pivotal for reentry and thereby ventricular tachycardia (VT). Current task force cr

  6. [Hypertrophic obstructive cardiomyopathy in a patient with Turner syndrome].

    Science.gov (United States)

    Conte, M R; Bonfiglio, G; Orzan, F; Mangiardi, L; Camaschella, C; Alfarano, A; Brusca, A

    1995-12-01

    A case of hypertrophic obstructive cardiomyopathy in a patient with Turner syndrome is reported. The most frequently associated cardiac anomalies are coarctation of the aorta and bicuspid aortic valve. Hypertrophic cardiomyopathy has never been reported in this syndrome but is frequent in Noonan syndrome. In these two conditions the phenotype may be indistinguishable but the cariotype is different: normal in Noonan and 45X in Turner syndrome. Our patient had the typical somatic features, and the cariotype was 45X in all examined cells. A familial form of hypertrophic cardiomyopathy was excluded by the normal clinical examination of other members of the family. The presence of hypertrophic cardiomyopathy also in Turner syndrome and the recent localization on the long arm of the chromosome 12 of the gene for Noonan syndrome might postulate a common pathogenesis of the two syndromes.

  7. X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy

    Directory of Open Access Journals (Sweden)

    Akinori Nakamura

    2015-06-01

    Full Text Available X-linked dilated cardiomyopathy (XLDCM is a distinct phenotype of dystrophinopathy characterized by preferential cardiac involvement without any overt skeletal myopathy. XLDCM is caused by mutations of the Duchenne muscular dystrophy (DMD gene and results in lethal heart failure in individuals between 10 and 20 years. Patients with Becker muscular dystrophy, an allelic disorder, have a milder phenotype of skeletal muscle involvement compared to Duchenne muscular dystrophy (DMD and sometimes present with dilated cardiomyopathy. The precise relationship between mutations in the DMD gene and cardiomyopathy remain unclear. However, some hypothetical mechanisms are being considered to be associated with the presence of some several dystrophin isoforms, certain reported mutations, and an unknown dystrophin-related pathophysiological mechanism. Recent therapy for Duchenne muscular dystrophy, the severe dystrophinopathy phenotype, appears promising, but the presence of XLDCM highlights the importance of focusing on cardiomyopathy while elucidating the pathomechanism and developing treatment.

  8. A Tension-Based Model Distinguishes Hypertrophic versus Dilated Cardiomyopathy.

    Science.gov (United States)

    Davis, Jennifer; Davis, L Craig; Correll, Robert N; Makarewich, Catherine A; Schwanekamp, Jennifer A; Moussavi-Harami, Farid; Wang, Dan; York, Allen J; Wu, Haodi; Houser, Steven R; Seidman, Christine E; Seidman, Jonathan G; Regnier, Michael; Metzger, Joseph M; Wu, Joseph C; Molkentin, Jeffery D

    2016-05-19

    The heart either hypertrophies or dilates in response to familial mutations in genes encoding sarcomeric proteins, which are responsible for contraction and pumping. These mutations typically alter calcium-dependent tension generation within the sarcomeres, but how this translates into the spectrum of hypertrophic versus dilated cardiomyopathy is unknown. By generating a series of cardiac-specific mouse models that permit the systematic tuning of sarcomeric tension generation and calcium fluxing, we identify a significant relationship between the magnitude of tension developed over time and heart growth. When formulated into a computational model, the integral of myofilament tension development predicts hypertrophic and dilated cardiomyopathies in mice associated with essentially any sarcomeric gene mutations, but also accurately predicts human cardiac phenotypes from data generated in induced-pluripotent-stem-cell-derived myocytes from familial cardiomyopathy patients. This tension-based model also has the potential to inform pharmacologic treatment options in cardiomyopathy patients.

  9. Septal Myectomy Surgery to Treat Obstructive Hypertrophic Cardiomyopathy (HCM)

    Science.gov (United States)

    Septal Myectomy Surgery to Treat Obstructive Hypertrophic Cardiomyopathy (HCM) Click Here to view the BroadcastMed, Inc. Privacy Policy and Legal Notice © 2017 BroadcastMed, Inc. All rights reserved.

  10. Dynamic electrocardiographic changes in patients with arrhythmogenic right ventricular cardiomyopathy.

    LENUS (Irish Health Repository)

    Quarta, Giovanni

    2010-04-01

    Electrocardiographic (ECG) abnormalities of depolarisation and repolarisation contribute to the diagnostic criteria for arrhythmogenic right ventricular cardiomyopathy (ARVC). The development of diagnostic ECG features were investigated in a genotyped cohort with ARVC to provide more sensitive markers of early disease.

  11. Takotsubo Cardiomyopathy and Catatonia in the Setting of Benzodiazepine Withdrawal

    OpenAIRE

    Peng, Teng J; Patchett, Nicholas D.; Bernard, Sheilah A.

    2016-01-01

    We report two serious and unusual complications of benzodiazepine withdrawal in a single patient: takotsubo cardiomyopathy and catatonia. This 61-year-old female patient was brought to the emergency department with lethargy and within hours had declined into a state of catatonia. Although there was never a complaint of chest pain, ECG showed deep anterior T-wave inversions and cardiac enzymes were elevated. An echocardiogram was consistent with takotsubo cardiomyopathy. She later received 1 m...

  12. Tako-tsubo-like cardiomyopathy after EpiPen administration.

    Science.gov (United States)

    Zubrinich, C M; Farouque, H M Omar; Rochford, S E; Sutherland, M F

    2008-11-01

    Tako-tsubo-like cardiomyopathy is characterized by acute chest pain, electrocardiographic changes and increased cardiac enzymes in the absence of obstructive coronary vessel disease. We describe the development of tako-tsubo-like cardiomyopathy in an elderly woman after the use of an EpiPen for generalized urticaria and angioedema. As adrenaline may participate in the pathogenesis of this condition, the need for careful patient selection and education in the use of adrenaline self-injectors remains imperative.

  13. Troponin Ⅰ,cardiac diastolic dysfunction and restrictive cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    Xu-pei HUANG; Jian-feng DU

    2004-01-01

    Cardiomyopathies are diseases of heart muscle that are associated with cardiac dysfunction. Molecular genetic studies performed to date have demonstrated that the damage or mutations in several sarcomeric contractile protein genes are associated with the development of the diseases. In this review, cardiac troponin Ⅰ, one of the sarcomeric thin filament protein, will be discussed regarding its role in cardiac function, its deficiency-related diastolic dysfunction, and the mutation of this protein-mediated restrictive cardiomyopathy.

  14. Takotsubo cardiomyopathy or broken heart syndrome: A review article

    Directory of Open Access Journals (Sweden)

    Allahyar Golabchi

    2011-01-01

    Full Text Available Stress-induced cardiomyopathy or Takotsubo cardiomyopathy is a recently increasing diagnosed disease showed by transient apical or mid left ventricular dilation and dysfunction. This sign is similar to acute myocardial infarction but without significant coronary artery stenosis and intra coronary clots. On the other hand there are important and essential differences in their management. Consequently, our physicians should know about its pathophysiology, diagnosis and treatment.

  15. Interaction between Hsp60 and Bax in normal human myocardium and in myocardium affected by dilated cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Tykhonkova I. O.

    2009-04-01

    Full Text Available The main functional compartments of molecular chaperone Hsp60 are mitochondria and cytoplasm. Up to 30 % of Hsp60 are located in cytoplasm of cardiomyocytes. The interaction between molecular chaperone Hsp60 and proapoptotic Bax protein in the cytoplasmic fraction from normal human heart tissue has been revealed by co-immunoprecipitation in contrast to myocardium affected by dilated cardiomyopathy, where this interaction has not been observed

  16. Obstetric hemorrhage in a case of hypertrophic obstructive cardiomyopathy with automatic implantable cardioverter defibrillator: Anaesthesia and intensive care management.

    Science.gov (United States)

    Mishra, Sandeep Kumar; Bhat, Ravindra R; Kavitha, Jayaram; Kundra, Pankaj; Parida, Satyen

    2016-01-01

    The physiological changes occurring during pregnancy and labor may reveal or exacerbate the symptoms of hypertrophic obstructive cardiomyopathy (HOCM). The addition of obstetric hemorrhage to this presents a unique challenge to the anesthesiologists and intensivists managing these patients in the operation theatres and the Intensive Care Units. Here we present a case of HOCM with automatic implantable cardioverter defibrillator in situ and postpartum hemorrhagic shock.

  17. Impella™ Left Ventricular Assist Device for Acute Peripartum Cardiomyopathy After Cesarean Delivery.

    Science.gov (United States)

    Padilla, Cesar; Hernandez Conte, Antonio; Ramzy, Danny; Sanchez, Michael; Zhao, Manxu; Park, Donald; Lubin, Lorraine

    2016-07-01

    Peripartum cardiomyopathy is a rare form of heart failure with significant perioperative implications. In this case report, we describe a 34-year-old gravida 5, parity 3, patient who was admitted for an elective cesarean delivery. During the delivery, the patient developed sudden cardiac arrest and was emergently intubated in the operating room. An emergent transesophageal echocardiogram revealed a left ventricular ejection fraction of 10% with global biventricular hypokinesis. Urgent multidisciplinary consultations led to the rapid implementation of the Impella™ 2.5 for ventricular support. The patient recovered ventricular function within 4 days and recovered to baseline function.

  18. Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): A clue to the pathogenesis of oncocytic cardiomyopathy?

    Energy Technology Data Exchange (ETDEWEB)

    Bird, L.M.; Krous, H.F.; Eichenfield, L.F.; Swalwell, C.I.; Jones, M.C. [Univ. of California, San Diego, CA (United States)

    1994-11-01

    A infant girl had red stellate skin lesions on the cheeks and neck, and mildly short palpebral fissures. Her skin abnormality was typical of microphthalmia with linear skin defects (MLS), a newly recognized syndrome consisting of congenital linear skin defects and ocular abnormalities in females monosomic for Xp22. She died suddenly and unexpectedly at age 4 months; the cause of death was ascribed to oncocytic cardiomyopathy. Oncocytic cardiomyopathy occurs only in young children, who present with refractory arrhythmias leading to cardiac arrest. The coexistence of two rare conditions, one of which is mapped to the X chromosome, and an excess of affected females with oncocytic cardiomyopathy is also X-linked, with Xp22 being a candidate region. Overlapping manifestations in the two conditions (ocular abnormalities in cases of oncocytic cardiomyopathy and arrhythmias in MLS) offer additional support for this hypothesis. 43 refs., 2 figs., 2 tabs.

  19. Constrictive Pericarditis Versus Restrictive Cardiomyopathy?

    Science.gov (United States)

    Garcia, Mario J

    2016-05-01

    About one-half of the patients with congestive heart failure have preserved left ventricular ejection fraction (HFpEF). Although the etiology of HFpEF is most commonly related to long-standing hypertension and atherosclerosis, a significant number of suspected HFpEF patients have a restrictive cardiomyopathy or chronic pericardial disease. Recognizing these syndromes is important because early diagnosis may lead to instituting specific therapy that may prolong survival, improve quality of life, and/or recognize and treat an underlying systemic disorder. Advances in diagnostic imaging, biomarkers, and genetic testing today allow identification of the specific etiology in most cases. Novel pharmacological, immunologic, and surgical therapies are leading to improved quality of life and survival.

  20. Acute mitral regurgitation in Takotsubo cardiomyopathy.

    Science.gov (United States)

    Bouabdallaoui, Nadia; Wang, Zhen; Lecomte, Milena; Ennezat, Pierre V; Blanchard, Didier

    2015-04-01

    Takotsubo cardiomyopathy (TTC) is a well-recognised entity that commonly manifests with chest pain, ST segment abnormalities and transient left ventricular apical ballooning without coronary artery obstructive disease. This syndrome usually portends a favourable outcome. In the rare haemodynamically unstable TTC patients, acute mitral regurgitation (MR) related to systolic anterior motion (SAM) of the mitral valve and left ventricular outflow tract obstruction (LVOTO) is to be considered. Bedside echocardiography is key in recognition of this latter condition as vasodilators, inotropic agents or intra-aortic balloon counter-pulsation worsen the patient's clinical status. We discuss here a case of TTC where nitrate-induced subaortic obstruction and mitral regurgitation led to haemodynamic instability.

  1. 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...... test and MRI or CT were performed at baseline and after 12 months in 133 patients (52±13 years, 35% female) randomly allocated to losartan (100 mg/day) or placebo. RESULTS: Losartan had no effect on systolic function compared with placebo (mean difference for left ventricular ejection fraction (LVEF) 0......%, (95% CI -3% to -1%), p=0.037) and 4% of patients had end-stage HCM with a LVEF of less than 50% at the end of the study. CONCLUSION: Treatment with losartan had no effect on cardiac function or exercise capacity compared with placebo. Losartan fail to improve myocardial performance and failed to alter...

  2. Takotsubo cardiomyopathy: Pathophysiology,diagnosis and treatment

    Institute of Scientific and Technical Information of China (English)

    Kazuo; Komamura; Miho; Fukui; Toshihiro; Iwasaku; Shinichi; Hirotani; Tohru; Masuyama

    2014-01-01

    In 1990,takotsubo cardiomyopathy(TCM)was first discovered and reported by a Japanese cardiovascular specialist.Since then,this heart disease has gained worldwide acceptance as an independent disease entity.TCM is an important entity that differs from acute myocardial infarction.It occurs more often in postmenopausal elderly women,is characterized by a transient hypokinesis of the left ventricular(LV)apex,and is associated with emotional or physical stress.Wall motion abnormality of the LV apex is generally transient and resolves within a few days to several weeks.Its prognosis is generally good.However,there are some reports of serious TCM complications,including hypotension,heart failure,ventricular rupture,thrombosis involving the LV apex,and torsade de pointes.It has been suggested that coronary spasm,coronary microvascular dysfunction,catecholamine toxicity and myocarditis might contribute to the pathogenesis of TCM.However,its pathophysiology is not clearly understood.

  3. 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....

  4. Peripartum cardiomyopathy: current knowledge and future directions.

    Science.gov (United States)

    Davis, Melinda; Duvernoy, Claire

    2015-07-01

    Peripartum cardiomyopathy is a form of heart failure occurring at the end of pregnancy or early in the postpartum period. Women may recover, have persistent cardiac dysfunction or suffer complications and death. Women who are African-American, older, hypertensive or have multiple gestation pregnancies have increased risk. Diagnosis and treatment may be delayed due to similarities between symptoms of normal pregnancy and heart failure. Echocardiography is essential for the diagnosis, and B-type natriuretic peptide can be helpful. Treatment for systolic heart failure must be adjusted during pregnancy, and anticoagulation may be indicated. Even after recovery, subsequent pregnancy confers substantial risk of worsening heart failure. Further investigations into the etiology, duration of treatment and risks for relapse are needed.

  5. Difficulties in clinical diagnosis of peripartum cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Vijayalakshmi B. Channaiah

    2015-06-01

    Full Text Available Peripartum cardiomyopathy (PPCM is a disorder which describes initial left ventricular dysfunction and symptoms of cardiac failure between the late stages of pregnancy and the first five months after delivery. PPCM is a difficult diagnosis to make because it resembles common cardiac issues that are normally experienced during pregnancy. Clinical presentation is representative of cardiac failure and is commonly misdiagnosed until further progression. This disorder is commonly seen in some regions of the world and rare in others. Proper evaluation and rapid treatment are crucial for an effective recovery. Subsequent pregnancies should be evaluated before pursuing. The purpose of this review article is to discuss the difficulties in clinical diagnosis and provide a concise and practical approach to treatment of suspected PPCM. [J Exp Integr Med 2015; 5(2.000: 69-74

  6. Sepsis-Induced Takotsubo Cardiomyopathy Leading to Torsades de Pointes

    Directory of Open Access Journals (Sweden)

    Nirav Patel

    2016-01-01

    Full Text Available Background. Takotsubo cardiomyopathy (TCM is sudden and reversible myocardial dysfunction often attributable to physical or emotional triggers. Case Report. We describe a 51-year-old man presented to emergency department with sepsis from urinary tract infection (UTI. He was placed on cefepime for UTI and non-ST-elevation myocardial infarction protocol given elevated troponins with chest pain. Subsequently, patient was pulseless with torsades de pointes (TdP and then converted to sinus rhythm with cardioversion. An echocardiogram revealed low ejection fraction with hypokinesis of the apical wall. Over 48 hours, the patient was extubated and stable on 3 L/min nasal cannula. He underwent a cardiac catheterization to evaluate coronary artery disease (CAD and was found to have mild nonobstructive CAD with no further findings. Conclusion. TCM is a rare disorder presenting with symptoms similar to acute coronary syndrome. Though traditionally elicited by physical and emotional triggers leading to transient left ventricular dysfunction, our case suggests that it may also be triggered by a urinary tract infection and lead to severe QT prolongation and a malignant ventricular arrhythmia in TdP.

  7. Sepsis-Induced Takotsubo Cardiomyopathy Leading to Torsades de Pointes

    Science.gov (United States)

    Kamran, Haroon; El-Sherif, Nabil

    2016-01-01

    Background. Takotsubo cardiomyopathy (TCM) is sudden and reversible myocardial dysfunction often attributable to physical or emotional triggers. Case Report. We describe a 51-year-old man presented to emergency department with sepsis from urinary tract infection (UTI). He was placed on cefepime for UTI and non-ST-elevation myocardial infarction protocol given elevated troponins with chest pain. Subsequently, patient was pulseless with torsades de pointes (TdP) and then converted to sinus rhythm with cardioversion. An echocardiogram revealed low ejection fraction with hypokinesis of the apical wall. Over 48 hours, the patient was extubated and stable on 3 L/min nasal cannula. He underwent a cardiac catheterization to evaluate coronary artery disease (CAD) and was found to have mild nonobstructive CAD with no further findings. Conclusion. TCM is a rare disorder presenting with symptoms similar to acute coronary syndrome. Though traditionally elicited by physical and emotional triggers leading to transient left ventricular dysfunction, our case suggests that it may also be triggered by a urinary tract infection and lead to severe QT prolongation and a malignant ventricular arrhythmia in TdP. PMID:27525128

  8. Inflammation in takotsubo cardiomyopathy: insights from cardiovascular magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Eitel, Ingo; Sareban, Mahdi; Schuler, Gerhard; Thiele, Holger [University of Leipzig - Heart Centre, Department of Internal Medicine/Cardiology, Leipzig (Germany); Luecke, Christian; Grothoff, Matthias; Gutberlet, Matthias [University of Leipzig - Heart Centre, Department of Diagnostic and Interventional Radiology, Leipzig (Germany)

    2010-02-15

    Takotsubo cardiomyopathy (TTC) is an increasingly recognised acute cardiac syndrome, whose underlying pathophysiological mechanisms remain unknown. Inflammation might play a role as this has been shown in endomyocardial biopsies. The aim of this study was to assess inflammatory parameters in patients with TTC using a comprehensive cardiovascular magnetic resonance imaging (CMR) approach. Thirty-seven patients with the suspected diagnosis of TTC underwent CMR. T2-weighted imaging to calculate the oedema ratio, T1-weighted imaging before and after contrast agent administration to calculate the global relative enhancement (gRE), and late gadolinium enhancement (LGE) imaging were performed. In 11 patients CMR revealed the diagnosis of myocardial infarction (n = 7; 19%) or myocarditis (n = 4; 11%) with typical patterns of LGE. In all other patients (n = 26; 70%), no LGE was detected consistent with the diagnosis of TTC. Of these, in 16 patients (62%) both inflammatory markers (oedema ratio and gRE) were elevated with concomitant pericardial effusion, indicating acute inflammation. Follow-up CMR after 3 months showed complete normalisation of left ventricular function and inflammatory parameters in the absence of LGE and pericardial effusion. This CMR study provides further insights into the pathophysiological mechanisms in TTC, supporting the contribution of an inflammatory process in the acute setting. (orig.)

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

    Directory of Open Access Journals (Sweden)

    Christian M Hagen

    Full Text Available 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. Several polymorphic mtDNA variants are associated with a variety of late-onset degenerative diseases and affect mitochondrial function. We examined the role of private, non-haplogroup associated, mitochondrial variants in the etiology of HCM. In 87 Danish HCM patients, full mtDNA sequencing revealed 446 variants. After elimination of 312 (69.9% non-coding and synonymous variants, a further 109 (24.4% with a global prevalence > 0.1%, three (0.7% haplogroup associated and 19 (2.0% variants with a low predicted in silico likelihood of pathogenicity, three variants: MT-TC: m.5772G>A, MT-TF: m.644A>G, and MT-CYB: m.15024G>A, p.C93Y remained. A detailed analysis of these variants indicated that none of them are likely to cause HCM. In conclusion, private mtDNA mutations are frequent, but they are rarely, if ever, associated with HCM.

  10. Aging Kit mutant mice develop cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    Lei Ye

    Full Text Available Both bone marrow (BM and myocardium contain progenitor cells expressing the c-Kit tyrosine kinase. The aims of this study were to determine the effects of c-Kit mutations on: i. myocardial c-Kit(+ cells counts and ii. the stability of left ventricular (LV contractile function and structure during aging. LV structure and contractile function were evaluated (echocardiography in two groups of Kit mutant (W/Wv and W41/W42 and in wild type (WT mice at 4 and 12 months of age and the effects of the mutations on LV mass, vascular density and the numbers of proliferating cells were also determined. In 4 month old Kit mutant and WT mice, LV ejection fractions (EF and LV fractional shortening rates (FS were comparable. At 12 months of age EF and FS were significantly decreased and LV mass was significantly increased only in W41/W42 mice. Myocardial vascular densities and c-Kit(+ cell numbers were significantly reduced in both mutant groups when compared to WT hearts. Replacement of mutant BM with WT BM at 4 months of age did not prevent these abnormalities in either mutant group although they were somewhat attenuated in the W/Wv group. Notably BM transplantation did not prevent the development of cardiomyopathy in 12 month W41/W42 mice. The data suggest that decreased numbers and functional capacities of c-Kit(+ cardiac resident progenitor cells may be the basis of the cardiomyopathy in W41/W42 mice and although defects in mutant BM progenitor cells may prove to be contributory, they are not causal.

  11. Takotsubo cardiomyopathy: diagnosis in an emergency department

    Directory of Open Access Journals (Sweden)

    Marina Mancini

    2014-06-01

    Full Text Available Takotsubo cardiomyopathy (TC is a reversible cardiomyopathy characterized by transient wall-motion abnormalities of the left ventricle (LV in the absence of significant obstructive coronary disease. In emergency departments the diagnosis remains a challenge because clinical and electrocardiographic presentation of Takotsubo is quite similar to ST-segment elevation myocardial infarction. We conducted a retrospective descriptive study on 1654 patients admitted to our emergency department from 2006 to 2009 who had a left heart catheterization for a suspected acute coronary syndrome and among them we evaluated characteristics on admission of 14 patients with a clinical picture suggestive for a TC. All patients were postmenopausal female. Ten patients (71% had preceding stressful events and four patients (29% did not have identifiable stressors. Thirteen patients (93% presented chest pain and one (7% syncope. ST-segment elevation was present in six patients (43%. One patient (7% presented an episode of ventricular fibrillation. All patients presented increased cardiac Troponin T. Initial LV ejection fraction, evaluated by transthoracic echocardiography was 44±10%. Follow-up LV ejection fraction was 61±10%. Six patients (43% had characteristic apical ballooning and eight patients (57% had hypokinesia or akinesia of the apical or/and midventricular region of the LV without ballooning. Coronary angiography was normal in nine patients (64% and five (36% had stenosis <50%. None had complete obstruction of a coronary. Takotsubo syndrome should be considered as a possible diagnosis in patients admitted in an emergency department with a suspected diagnosis of acute coronary syndrome. Emergency physicians should recognize salient aspects of the medical history at presentation in order to organize appropriate investigations and avoid inappropriate therapies.

  12. Recurrence of Takotsubo Cardiomyopathy: Role of Multi- Detector Computed Tomography Coronary Angiography

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    Yaser Jenab

    2015-10-01

    Full Text Available Takotsubo cardiomyopathy (TCM, also known as stress-induced cardiomyopathy, is a clinical syndrome of transient left ventricular (LV apical wall motion abnormality with relative preservation of the basal heart segments in the absence of any significant atherosclerosis. Recurrence of this condition is rare. We report a postmenopausal woman, who experienced two episodes of TCM within 4 months following emotional and physical stress. In the first episode, she was admitted due to severe dyspnea, accompanied by sudden-onset, prolonged, burning chest pain and palpitation. Transthoracic echocardiography revealed akinesia of the LV, with the exception of the basal regions. Coronary angiography demonstrated no significant coronary artery disease, and follow-up echocardiography showed normalization of the LV wall motion abnormalities. In the second episode, she experienced similar symptoms and echocardiography revealed similar changes. Multi-detector computed tomography revealed normal coronary arteries. After 9 days, she was discharged in good condition; and at 3 months’ follow- up, she was symptom-free with normal echocardiography.

  13. THE ROLE OF PARVOVIRUS B19 IN THE DEVELOPMENT OF INFLAMMATORY CARDIOMYOPATHY

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    A. Yu. Shchedrina

    2013-01-01

    Full Text Available The problem of inflammatory cardiomyopathy is discussed. The etiology, pathogenesis, diagnosis and treatment of inflammatory cardiomyopathy are considered with focus on the role of parvovirus B19.

  14. 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 appea

  15. Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy

    DEFF Research Database (Denmark)

    Lakdawala, Neal K; Thune, Jens J; Colan, Steven D;

    2012-01-01

    Sarcomere mutations cause both dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM); however, the steps leading from mutation to disease are not well described. By studying mutation carriers before a clinical diagnosis develops, we characterize the early manifestations of sarcomere ...

  16. A Genetic Variants Database for Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

    NARCIS (Netherlands)

    van der Zwaag, Paul A.; Jongbloed, Jan D. H.; van den Berg, Maarten P.; van der Smagt, Jasper J.; Jongbloed, Roselie; Bikker, Hennie; Hofstra, Robert M. W.; van Tintelen, J. Peter

    2009-01-01

    Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a hereditary cardiomyopathy characterized by fibrofatty replacement of cardiomyocytes, ventricular tachyarrhythmias and sudden death. ARVD/C is mainly caused by mutations in genes encoding desmosomal proteins. However, the pathoge

  17. Characterization and Long-Term Prognosis of Postmyocarditic Dilated Cardiomyopathy Compared With Idiopathic Dilated Cardiomyopathy.

    Science.gov (United States)

    Merlo, Marco; Anzini, Marco; Bussani, Rossana; Artico, Jessica; Barbati, Giulia; Stolfo, Davide; Gigli, Marta; Muça, Matilda; Naso, Paola; Ramani, Federica; Di Lenarda, Andrea; Pinamonti, Bruno; Sinagra, Gianfranco

    2016-09-15

    Dilated cardiomyopathy (DC) is the final common pathway of different pathogenetic processes and presents a significant prognostic heterogeneity, possibly related to its etiologic variety. The characterization and long-term prognosis of postmyocarditic dilated cardiomyopathy (PM-DC) remain unknown. This study assesses the clinical-instrumental evolution and long-term prognosis of a large cohort of patients with PM-DC. We analyzed 175 patients affected with DC consecutively enrolled from 1993 to 2008 with endomyocardial biopsy (EMB) data available. PM-DC was defined in the presence of borderline myocarditis at EMB or persistent left ventricular dysfunction 1 year after diagnosis of active myocarditis at EMB. Other patients were defined as affected by idiopathic dilated cardiomyopathy (IDC). Analysis of follow-up evaluations was performed at 24, 60, and 120 months. We found 72 PM-DC of 175 enrolled patients (41%). Compared with IDC, patients with PM-DC were more frequently females and less frequently presented a familial history of DC. No other baseline significant differences were found. During the long-term follow-up (median 154, first to third interquartile range 78 to 220 months), patients with PM-DC showed a trend toward slower disease progression. Globally, 18 patients with PM-DC (25%) versus 49 with IDC (48%) experienced death/heart transplantation (p = 0.045). The prognostic advantage for patients with PM-DC became significant beyond 40 months of follow-up. At multivariable time-dependent Cox analysis, PM-DC was confirmed to have a global independent protective role (hazard ratio 0.53, 95% confidence interval 0.28 to 0.97, p = 0.04). In conclusion, PM-DC is characterized by better long-term prognosis compared with IDC. An exhaustive etiologic characterization appears relevant in the prognostic assessment of DC.

  18. An Indian family with an Emery-Dreifuss myopathy and familial dilated cardiomyopathy due to a novel LMNA mutation

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    Khushal B Jadhav

    2012-01-01

    Full Text Available Emery-Dreifuss myopathy can be associated with a cardiomyopathy and cardiac dysrhythmias. The inheritance pattern of Emery-Dreifuss muscular dystrophy (EDMD is X linked, whereas EDMD2 is autosomal dominant. EDMD2 is caused by lamin A/C gene (LMNA mutations that produce alterations in the lamin proteins that are integral to nuclear and cell integrity. A 53-year-old man was brought to us with a right internal carotid artery dissection. Detailed work-up of the patient and family members revealed some unusual features, and genetic sequencing of the LMNA gene was undertaken. A novel mutation was identified in two of the samples sent for analysis. We present the first Indian family of EDMD2 with familial dilated cardiomyopathy and cardiac dysrhythmias in whom LMNA gene sequencing was performed. A novel mutation was identified and additional unusual clinical features were described.

  19. Arrhythmogenic right ventricular cardiomyopathy/dysplasia

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    Basso Cristina

    2007-11-01

    Full Text Available Abstract Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D is a heart muscle disease clinically characterized by life-threatening ventricular arrhythmias. Its prevalence has been estimated to vary from 1:2,500 to 1:5,000. ARVC/D is a major cause of sudden death in the young and athletes. The pathology consists of a genetically determined dystrophy of the right ventricular myocardium with fibro-fatty replacement to such an extent that it leads to right ventricular aneurysms. The clinical picture may include: a subclinical phase without symptoms and with ventricular fibrillation being the first presentation; an electrical disorder with palpitations and syncope, due to tachyarrhythmias of right ventricular origin; right ventricular or biventricular pump failure, so severe as to require transplantation. The causative genes encode proteins of mechanical cell junctions (plakoglobin, plakophilin, desmoglein, desmocollin, desmoplakin and account for intercalated disk remodeling. Familiar occurrence with an autosomal dominant pattern of inheritance and variable penetrance has been proven. Recessive variants associated with palmoplantar keratoderma and woolly hair have been also reported. Clinical diagnosis may be achieved by demonstrating functional and structural alterations of the right ventricle, depolarization and repolarization abnormalities, arrhythmias with the left bundle branch block morphology and fibro-fatty replacement through endomyocardial biopsy. Two dimensional echo, angiography and magnetic resonance are the imaging tools for visualizing structural-functional abnormalities. Electroanatomic mapping is able to detect areas of low voltage corresponding to myocardial atrophy with fibro-fatty replacement. The main differential diagnoses are idiopathic right ventricular outflow tract tachycardia, myocarditis, dialted cardiomyopathy and sarcoidosis. Only palliative therapy is available and consists of antiarrhythmic drugs

  20. The subaortic tendon as a mimic of hypertrophic cardiomyopathy

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    Ker James

    2009-07-01

    Full Text Available Abstract Originally described by Brock and Teare, today hypertrophic cardiomyopathy is clinically defined as left (or right ventricular hypertrophy without a known cardiac or systemic cause, such as systemic hypertension, Fabry's disease or aortic stenosis. Also appreciated today is the enormous genotypic and phenotypic heterogeneity of this disease with more than 300 mutations over more than 24 genes, encoding various sarcomeric, mitochondrial and calcium-handling proteins, all as genetic causes for hypertrophic cardiomyopathy. Phenotypically, the disease can vary from negligible to extreme hypertrophy, affecting either the left and/or right ventricle in an apical, midventricular or subaortic location. Left ventricular false tendons are thin, fibrous or fibromuscular structures that traverse the left ventricular cavity. Recently, a case report was presented where it was shown that such a false tendon, originating from a subaortic location, was responsible for striking ST-segment elevation on the surface electrocardiogram. In this case report, a case is presented where such a subaortic tendon led to the classic echocardiographic appearance of hypertrophic cardiomyopathy, thus in the assessment of hypertrophic cardiomyopathy, this entity needs to be excluded in order to prevent a false positive diagnosis of hypertrophic cardiomyopathy.

  1. Takotsubo cardiomyopathy after a dancing session: a case report

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    Ibrahim Ammar A

    2011-10-01

    Full Text Available Abstract Introduction Stress-induced (Takotsubo cardiomyopathy is a rare form of cardiomyopathy which presents in a manner similar to that of acute coronary syndrome. This sometimes leads to unnecessary thrombolysis therapy. The pathogenesis of this disease is still poorly understood. We believe that reporting all cases of Takotsubo cardiomyopathy will contribute to a better understanding of this disease. Here, we report a patient who, in the absence of any recent stressful events in her life, developed the disease after a session of dancing. Case presentation A 69-year-old Caucasian woman presented with features suggestive of acute coronary syndrome shortly after a session of dancing. Echocardiography and a coronary angiogram showed typical features of Takotsubo cardiomyopathy and our patient was treated accordingly. Eight weeks later, her condition resolved completely and the results of echocardiography were totally normal. Conclusions Takotsubo cardiomyopathy, though transient, is a rare and serious condition. Although it is commonly precipitated by stressful life events, these are not necessarily present. Our patient was enjoying one of her hobbies (that is, dancing when she developed the disease. This case has particular interest in medicine, especially for the specialties of cardiology and emergency medicine. We hope that it will add more information to the literature about this rare condition.

  2. Potential applications for transesophageal echocardiography in hypertrophic cardiomyopathies.

    Science.gov (United States)

    Widimsky, P; Ten Cate, F J; Vletter, W; van Herwerden, L

    1992-01-01

    The purpose of the present study was to evaluate the potential advantages of transesophageal echocardiography (TEE) in comparison with transthoracic echocardiography (TTE) in selected patients with hypertrophic cardiomyopathy. Ten patients with previously established or suspected diagnosis of hypertrophic cardiomyopathy were examined by TEE to solve specific clinical questions. TEE was well tolerated by all patients; no arrhythmias were seen during the procedure. The comparison of TTE and TEE showed the following: Advantages of TTE--better assessment of the left ventricle, myocardial thickness measurements available in all regions and sufficient for the diagnosis of hypertrophic cardiomyopathy in nine out of 10 patients; advantages of TEE--precise assessment of mitral valve morphology and regurgitant jets, detailed evaluation of systolic anterior motion, and subaortic membrane (not seen by TTE) recognized in one patient. Clinically, in three patients TEE influenced the management (mitral leaflet perforation, subaortic membrane, and residual mitral regurgitation after valvuloplasty). Thus TEE enables more precise diagnosis in some patients with hypertrophic cardiomyopathy and has the potential to influence their surgical management. However, for medical treatment of hypertrophic cardiomyopathy, TTE is sufficient.

  3. [Cardiomyopathy in liver cirrhosis--an undiagnosed entity?].

    Science.gov (United States)

    Burcă, Paula; Mihai, B; Mihai, Cătălina; Drug, V L; Dranga, Mihaela; Lăcătuşu, Cristina; Prelipcean, Cristina Cijevschi

    2010-01-01

    Cirrhotic cardiomyopathy is a condition recently known in liver cirrhosis consisting of systolic dysfunction to stress factors, diastolic dysfunction and electrophysiological abnormalities in the absence of cardiac disease. The prevalence of cirrhotic cardiomyopathy remains unknown until now. It can be diagnosed by using a combination of electrocardiograph, 2-dimensional echocardiography, and various serum markers (brain natriuretic factor--BNP, proBNP, TnI). Pathogenic mechanisms underlying cirrhotic cardiomyopathy development include abnormal signaling betaadrenergic, cardiomyocites membrane fluidity changes, interstitial fibrosis, myocardial hypertrophy, altered transmembrane ion channels as intervention with negative inotropic effect of different substances whose concentration is increased in cirrhosis. Major stresses on the cardiovasculary system such as liver transplantations, infections, insertion of transjugular portosystemic stent-shunt (TIPSS) have been demonstrated to put in evidence the presence of cirrhotic cardiomyopathy. Heart failure is a significant cause of mortality after liver transplantation but the improvement of liver function determines cardiac abnormalities reversal. Current management recommendations include empirical, nonspecific and mainly supportive measures, no specific treatment can be recommended, and cardiac failure should be treated as in non-cirrhotic patients with sodium restriction, diuretics, and oxygen therapy when necessary. The exact prognosis remains unclear. The extent of cirrhotic cardiomyopathy generally correlates to the degree of liver insufficiency. Reversibility is possible (either pharmacological or after liver transplantation), but further studies are needed.

  4. Right ventricular cardiomyopathies: a multidisciplinary approach to diagnosis.

    Science.gov (United States)

    Limongelli, Giuseppe; Rea, Alessandra; Masarone, Daniele; Francalanci, M Paola; Anastasakis, Aris; Calabro', Raffaele; Giovanna, Russo Maria; Bossone, Eduardo; Elliott, Perry Mark; Pacileo, Giuseppe

    2015-01-01

    The physiological importance of the right ventricle (RV) has been underestimated over the past years. Finally in the early 1950s through the 1970s, cardiac surgeons recognized the importance of RV function. Since then, the importance of RV function has been recognized in many acquired cardiac heart disease. RV can be mainly or together with left ventricle (LV) affected by inherited or acquired cardiomyopathy. In fact, RV morphological and functional remodeling occurs more common during cardiomyopathies than in ischemic cardiomyopathies and more closely parallels LV dysfunction. Moreover, there are some cardiomyopathy subtypes showing a predominant or exclusive involvement of the RV, and they are probably less known by cardiologists. The clinical approach to right ventricular cardiomyopathies is often challenging. Imaging is the first step to raise the suspicion and to guide the diagnostic process. In the differential diagnosis, cardiologists should consider athlete's heart, congenital heart diseases, multisystemic disorders, and inherited arrhythmias. However, a multiparametric and multidisciplinary approach, involving cardiologists, experts in imaging, geneticists, and pathologists with a specific expertise in these heart muscle disorders is required.

  5. Late presentation of arrhythmogenic right ventricular cardiomyopathy: a case report

    Directory of Open Access Journals (Sweden)

    Papaioannou Georgios I

    2009-08-01

    Full Text Available Abstract Introduction Arrhythmogenic right ventricular cardiomyopathy is an inherited myocardial disease affecting predominantly young people and manifests as sustained ventricular tachycardia with left bundle branch block morphology, sudden death or isolated right or biventricular heart failure. However, its first manifestation as sustained ventricular tachycardia in older patients without preceding symptoms of heart failure is infrequent. To our knowledge, our patient is among the oldest reported in the literature presenting with ventricular tachycardia because of arrhythmogenic right ventricular cardiomyopathy without preceding symptoms of heart failure. Case presentation We present an unusual case of a very late presentation of a right ventricular cardiomyopathy in a 72-year-old white Caucasian man. The patient was admitted with symptoms of weakness, dizziness and chest discomfort for several hours. His electrocardiogram showed a wide-complex tachycardia with left bundle branch block morphology and left axis deviation. Because of continuing hemodynamic instability, the patient was cardioverted to sinus rhythm with a single 300 J shock. His post-cardioversion electrocardiogram, cardiac echocardiogram, coronary angiogram, magnetic resonance imaging and electrophysiological study confirmed the diagnosis of arrhythmogenic right ventricular cardiomyopathy. The patient was treated with an implantable cardioverter defibrillator and discharged on sotalol. Conclusion This case report demonstrates that arrhythmogenic right ventricular cardiomyopathy may have a very late presentation and this diagnosis should be considered as a potential cause of sustained ventricular tachycardia of right ventricular origin among the elderly and should be treated accordingly.

  6. Alcohol septal ablation in obstructive acromegalic hypertrophic cardiomyopathy - a first case report.

    Science.gov (United States)

    Viveiros Monteiro, André; Fiarresga, António; Cacela, Duarte; de Sousa, Lídia; Ramos, Ruben; Galrinho, Ana; Branco, Luísa; Cruz Ferreira, Rui

    2016-09-01

    Acromegaly is a rare disease, mostly caused by a growth hormone (GH)-secreting benign pituitary tumor, with an increased production of GH and insulin-like growth factor 1 (IGF-1). Cardiovascular complications are common and are associated with cardiomyocyte apoptosis and concentric cardiac hypertrophy. Suppression of GH and IGF-1 appears to improve cardiac function only in the short term, with little or no decrease in left ventricular mass or improvement in cardiac function after prolonged treatment. Alcohol septal ablation (ASA) has emerged as a minimally invasive alternative to septal myectomy, with significant improvement in symptoms, gradients and left ventricular remodeling. In this report, we describe the case of a 73-year-old woman with acromegaly due to a pituitary adenoma diagnosed and treated surgically at the age of 38 but with recurrence and reoperation at the age of 50. She was referred to our cardiology department due to a three-month history of progressively worsening exercise-induced dyspnea and orthopnea under optimal medical therapy. Echocardiography and magnetic resonance imaging revealed severe basal hypertrophy of the interventricular septum (19 mm), dynamic left ventricular outflow tract obstruction with a gradient of 70 mmHg at rest and 120 mmHg with Valsalva maneuver, and systolic anterior movement (SAM). Genetic testing excluded the most frequent forms of familial hypertrophic cardiomyopathy. ASA was performed with injection of 2 cc of alcohol in the first septal branch of the left coronary artery, without complications. At one-year reassessment, significant clinical and echocardiographic improvement was noted, with disappearance of SAM. To our knowledge, there have been no previously reported cases of ASA in hypertrophic cardiomyopathy due to acromegaly. We report a case of successful ASA in acromegalic cardiomyopathy.

  7. Peripartum cardiomyopathy: current management and future perspectives

    Science.gov (United States)

    Hilfiker-Kleiner, Denise; Haghikia, Arash; Nonhoff, Justus; Bauersachs, Johann

    2015-01-01

    Pregnancy is associated with marked physiological changes challenging the cardiovascular system. Among the more severe pregnancy associated cardiovascular complications, peripartum cardiomyopathy (PPCM) is a potentially life-threatening heart disease emerging towards the end of pregnancy or in the first postpartal months in previously healthy women. A major challenge is to distinguish the peripartum discomforts in healthy women (fatigue, shortness of breath, and oedema) from the pathological symptoms of PPCM. Moreover, pregnancy-related pathologies such as preeclampsia, myocarditis, or underlying genetic disease show overlapping symptoms with PPCM. Difficulties in diagnosis and the discrimination from other pathological conditions in pregnancy may explain why PPCM is still underestimated. Additionally, underlying pathophysiologies are poorly understood, biomarkers are scarce and treatment options in general limited. Experience in long-term prognosis and management including subsequent pregnancies is just beginning to emerge. This review focuses on novel aspects of physiological and pathophysiological changes of the maternal cardiovascular system by comparing normal conditions, hypertensive complications, genetic aspects, and infectious disease in PPCM-pregnancies. It also presents clinical and basic science data on the current state of knowledge on PPCM and brings them in context thereby highlighting promising new insights in diagnostic tools and therapeutic approaches and management. PMID:25636745

  8. Prooxidant Mechanisms in Iron Overload Cardiomyopathy

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    Ching-Feng Cheng

    2013-01-01

    Full Text Available Iron overload cardiomyopathy (IOC, defined as the presence of systolic or diastolic cardiac dysfunction secondary to increased deposition of iron, is emerging as an important cause of heart failure due to the increased incidence of this disorder seen in thalassemic patients and in patients of primary hemochromatosis. At present, although palliative treatment by regular iron chelation was recommended; whereas IOC is still the major cause for mortality in patient with chronic heart failure induced by iron-overloading. Because iron is a prooxidant and the associated mechanism seen in iron-overload heart is still unclear; therefore, we intend to delineate the multiple signaling pathways involved in IOC. These pathways may include organelles such as calcium channels, mitochondria; paracrine effects from both macrophages and fibroblast, and novel mediators such as thromboxane A2 and adiponectin; with increased oxidative stress and inflammation found commonly in these signaling pathways. With further understanding on these complex and inter-related molecular mechanisms, we can propose potential therapeutic strategies to ameliorate the cardiac toxicity induced by iron-overloading.

  9. Current therapeutic concepts in peripartum cardiomyopathy.

    Science.gov (United States)

    Krejci, Jan; Poloczkova, Hana; Nemec, Petr

    2015-01-01

    Peripartum cardiomyopathy (PPCM) is a relatively rare disease characterized by systolic heart failure occuring towards the end of pregnancy or during the months following birth. It is most often seen in women of African descent, and its incidence seems to be slightly increasing in recent years. Other etiologies of heart failure should be excluded to determine the diagnosis of PPCM. The clinical picture corresponds to systolic heart failure. The rapid onset of the symptoms in relation to pregnancy is striking. The essential diagnostic procedures such as echocardiography, cardiac magnetic resonance imaging and endomyocardial biopsy may be beneficial in certain situations. The etiology of the disease remains unclear. Speculated causes include myocarditis, autoimmune disorders, cardiotropic virus infection, and abnormal responses to hemodynamic and hormonal changes during pregnancy. Particular attention is currently given to the concept of increased oxidative stress inducing production of proapoptotic, angiostatic and proinflammatory mediators. Recovery of left ventricular systolic function occurs in about half of the cases. Mortality has been decreasing in recent years, especially in the United States, but is still between 10-15% in less developed countries where therapeutic possibilities are limited. In addition to standard heart failure therapy, specific treatments (pentoxyfilline, bromocriptine, immunomodulatory therapy) have been tested. Mechanical circulatory support is sometimes needed. Heart transplantation is the therapeutic option for the most severe heart failure and is used in about 10% of the cases. Recurrence in subsequent pregnancy is common and therefore, another pregnancy is not recommended in many cases.

  10. Genetic bases of arrhythmogenic right ventricular cardiomyopathy

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    Alessandra Rampazzo

    2010-05-01

    Full Text Available Arrhythmogenic right ventricular cardiomyopathy (ARVC is a heart muscle disease in which the pathological substrate is a fibro-fatty replacement of the right ventricular myocardium. The major clinical features are different types of arrhythmias with a left branch block pattern. ARVC shows autosomal dominant inheritance with incomplete penetrance. Recessive forms were also described, although in association with skin disorders. Ten genetic loci have been discovered so far and mutations were reported in five different genes. ARVD1 was associated with regulatory mutations of transforming growth factor beta-3 (TGFβ3, whereas ARVD2, characterized by effort-induced polymorphic arrhythmias, was associated with mutations in cardiac ryanodine receptor-2 (RYR2. All other mutations identified to date have been detected in genes encoding desmosomal proteins: plakoglobin (JUP which causes Naxos disease (a recessive form of ARVC associated with palmoplantar keratosis and woolly hair; desmoplakin (DSP which causes the autosomal dominant ARVD8 and plakophilin-2 (PKP2 involved in ARVD9. Desmosomes are important cell-to-cell adhesion junctions predominantly found in epidermis and heart; they are believed to couple cytoskeletal elements to plasma membrane in cell-to-cell or cell-to-substrate adhesions.

  11. An update on treatments and outcomes in peripartum cardiomyopathy.

    Science.gov (United States)

    Sheppard, Richard; Rajagopalan, Navin; Safirstein, Jordan; Briller, Joan

    2014-05-01

    Peripartum cardiomyopathy (PPCM) is a well-established complication of pregnancy. Criteria include heart failure that presents with reduced left ventricular function, signs and symptoms of heart failure either late in pregnancy or early in the postpartum period. The incidence varies widely depending geography and ethnicity. The pathophysiology of PPCM is still an area of active investigation, but includes immune and inflammatory mechanisms, which are the subject of several investigations. Therapies for chronic heart failure from PPCM are similar to those patients with nonischemic cardiomyopathy from different etiologies, however novel therapies may include bromocriptine, pentoxifylline or other potential therapies influencing the immune system. The need for implantable defibrillators, left ventricular assist devices and cardiac transplant in women with PPCM is rare, and prognosis is better than other forms of nonischemic cardiomyopathy. Despite this, further information about the epidemiology, prognosis and potential therapies are required to better manage and diagnose PPCM in women with signs and symptoms of heart failure.

  12. Bromocriptine as a new therapeutic agent for peripartum cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Sandeep Chopra

    2012-01-01

    Full Text Available Peripartum cardiomyopathy (PPCM is a poorly understood, rare disorder in which left ventricular systolic dysfunction and symptoms of heart failure occur between the last month of pregnancy and the first 5 months postpartum. Recent data suggest that uncontrolled oxidative stress leads to the activation of the prolactin cleaving enzyme cathepsin D that in turn leads to an increase in a cleaved 16 kDa prolactin. This cleaved form that has an angiostatic and proapoptotic role appears to drive the disease by adversely impacting the endothelium and cardiomyocyte. Bromocriptine that reduces the prolactin production by dopamine agonist actions may improve outcomes in patients with peripartum cardiomyopathy by eliminating the cleaved form of prolactin despite the activation of the cleaving enzyme. In limited case reports and proof of concept studies use of bromocriptine in the early stages has been shown to improve outcomes in patients with peripartum cardiomyopathy. However, larger randomized control study is still awaited.

  13. RISK OF PATIENTS WITH HYPERTROPHIC CARDIOMYOPATHY UNDERGOING NONCARDIAC SURGERY

    Institute of Scientific and Technical Information of China (English)

    Tian-ming Xuan; Yong Zeng; Wen-ling Zhu

    2007-01-01

    To determine the risk of noncardiac surgery in patients with hypertrophic cardiomyopathy.Methods We reviewed the medical records of all patients who were diagnosed as hypertrophic cardiomyopathy at Peking Union Medical College Hospital from January 1998 to August 2006 and identified 24 patients who subsequently underwent noncardiac surgery.Results There were no intraoperative cardiac events. Postoperative cardiac events were identified in 3 patients including 1 death due to acute myocardial infarction and 2 episodes of transient hypotension.Conclusions The risk of anesthesia and noncardiac surgery is low in patients with hypertrophic cardiomyopathy.During the perioperative period, beta-blockers and/or calcium channel blockers should be given; vasodilator and inotropic agents should be avoided due to the side effects on hemodynamics.

  14. Assessment of takotsubo (ampulla) cardiomyopathy using iodine-123 metaiodobenzylguanidine scintigraphy

    Energy Technology Data Exchange (ETDEWEB)

    Pessoa, Pinheiro M.C.; Xavier, Salles S.; Lima, Souza Leao R.; Mansur, J.; Almeida, Altino S. de; Carvalho, Pires A.C.; Gutfilen, B.; Fonseca, Barbosa L.M. da [Hospital Univ. Clementino Fraga Filho, Univ. Federal do Rio de Janeiro (Brazil). Dept. de Radiologia

    2006-12-15

    Purpose: To evaluate the role of cardiac sympathetic innervation in patients whose clinical features consisted of chest pain, transient ST-segment elevation, left ventricular apical akinesis, minimal elevation of cardiac enzymes, and onset of symptoms shortly after a severe stress condition. Material and Methods: Five female patients, mean age 67{+-}14 years, underwent thoracic {sup 123}I-MIBG (planar and SPECT) and 67Ga citrate (planar) scans within 5 days after the onset of symptoms. The {sup 123}I-MIBG myocardial washout rate between early (30 min) and delayed (3 hours) planar images was calculated. All patients presented findings consistent with takotsubo-like syndrome. Echocardiograms showed the characteristic wall motion pattern of significant apical dysfunction. Acute-phase coronary angiographies revealed a non-obstructive pattern. A peculiar apical akinesis and basal normokinesis were observed on the ventriculograms. Results: Impairment of cardiac neuronal uptake of {sup 123}I-MIBG based on a reduction of the heart-to-mediastinum uptake ratio was observed in all patients, while the washout rate was raised in four patients. All patients presented an apical uptake defect in the {sup 123}I-MIBG SPECT and planar images and a normal 67Ga scintigraphy. Conclusion: Our data indicate that ampulla cardiomyopathy (AC) is associated with a cardiac sympathetic innervation deficit characterized by a reduced global {sup 123}I-MIBG uptake and an apical uptake defect. The lack of 67Ga uptake in the acute phase of this syndrome indicates that AC is probably not associated with an inflammatory process.

  15. Clinical Characteristics and Treatment of Cardiomyopathies in Children.

    Science.gov (United States)

    Price, Jack F; Jeewa, Aamir; Denfield, Susan W

    2016-01-01

    Cardiomyopathies are diseases of the heart muscle, a term introduced in 1957 to identify a group of myocardial diseases not attributable to coronary artery disease. The definition has since been modified to refer to structural and or functional abnormalities of the myocardium where other known causes of myocardial dysfunction, such as systemic hypertension, valvular disease and ischemic heart disease, have been excluded. In this review, we discuss the pathophysiology, clinical assessment and therapeutic strategies for hypertrophic, dilated and hypertrophic cardiomyopathies, with a particular focus on aspects unique to children.

  16. A Rare Occurance with Epidermolysis Bullosa Disease: Dilated Cardiomyopathy

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    Derya Cimen

    2014-02-01

    Full Text Available Epidermolysis bullosa is a congenital and herediter vesiculobullous disease. Dystrophic form of this disease is characterized by severe malnutrition, failure to thrive, adhesions at fingers, joint contractures related with the formation of scar tissues, carcinoma of the skin, anemia, hipoalbuminemia, wound enfections and sepsis. Rarely, mortal dilated cardiomyopathy may occur in patients. In this report we present a 13 year-old pediatric patient with dilated cardiomyopathy, clinically diagnosed with Epidermolysis bullosa as well as a review of recent related literature.

  17. ANAESTHETIC MANAGEMENT OF PERIPARTUM CARDIOMYOPATHY: A CASE REPORT

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    Prabhu

    2016-02-01

    Full Text Available Anaesthetic management for caesarean section of a patient with peripartum cardiomyopathy (PPCM can be challenging. These patients require analgesia/anaesthesia for normal delivery or caesarean section. In this case report we describe the anaesthetic management of a 20-year-old patient at 37 weeks of gestation, with peripartum cardiomyopathy, heart failure and pulmonary oedema. She was scheduled for emergency caesarean section because of a threat to mother’s life and fetal distress. GA was induced with Etomidate and fentanyl safely. No adverse outcome on mother or new born was observed.

  18. Peripartum cardiomyopathy in a patient with Graves' disease.

    Science.gov (United States)

    Kajiya, Takashi; Lee, Souki; Yamashita, Makoto; Sasaki, Yuichi; Kamizono, Yusuke; Imamura, Masakazu; Toyonaga, Koichi; Toda, Hitoshi; Koriyama, Nobuyuki; Tei, Chuwa

    2010-11-05

    Peripartum cardiomyopathy (PPCM) is a rare life-threatening cardiomyopathy of unknown etiology that occurs during the peripartum period in previously healthy women. Autoimmune and viral factors have been suggested to be involved in PPCM. Here we describe a patient with Graves' disease, which is one of the organ-specific autoimmune diseases, who developed acute heart failure due to PPCM at 2 weeks after her first delivery. The patient recovered completely with conservative treatment for heart failure. An association between PPCM and Graves' disease has not been reported before. PPCM may be an organ-specific autoimmune disease, so the coexistence of other autoimmune diseases should be considered in PPCM patients.

  19. Inferior ST-Elevation Myocardial Infarction Associated with Takotsubo Cardiomyopathy

    Science.gov (United States)

    Koeth, Oliver; Zeymer, Uwe; Schiele, Rudolf; Zahn, Ralf

    2010-01-01

    Takotsubo cardiomyopathy (TCM) is usually characterized by transient left ventricular apical ballooning. Due to the clinical symptoms which include chest pain, electrocardiographic changes, and elevated myocardial markers, Takotsubo cardiomyopathy is frequently mimicking ST-elevation myocardial infarction in the absence of a significant coronary artery disease. Otherwise an acute occlusion of the left anterior descending coronary artery can produce a typical Takotsubo contraction pattern. ST-elevation myocardial infarction (STEMI) is frequently associated with emotional stress, but to date no cases of STEMI triggering TCM have been reported. We describe a case of a female patient with inferior ST-elevation myocardial infarction complicated by TCM. PMID:20811565

  20. Inferior ST-Elevation Myocardial Infarction Associated with Takotsubo Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Oliver Koeth

    2010-01-01

    Full Text Available Takotsubo cardiomyopathy (TCM is usually characterized by transient left ventricular apical ballooning. Due to the clinical symptoms which include chest pain, electrocardiographic changes, and elevated myocardial markers, Takotsubo cardiomyopathy is frequently mimicking ST-elevation myocardial infarction in the absence of a significant coronary artery disease. Otherwise an acute occlusion of the left anterior descending coronary artery can produce a typical Takotsubo contraction pattern. ST-elevation myocardial infarction (STEMI is frequently associated with emotional stress, but to date no cases of STEMI triggering TCM have been reported. We describe a case of a female patient with inferior ST-elevation myocardial infarction complicated by TCM.

  1. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: an updated imaging approach.

    Science.gov (United States)

    Zimmerman, Stefan L

    2015-02-01

    Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a rare inherited cardiomyopathy characterized by fibrofatty replacement of the right ventricular myocardium and risk of sudden death from ventricular tachyarrhythmias. Cardiac magnetic resonance (MR) imaging plays an important role in the diagnostic evaluation of patients and family members suspected of having ARVC/D. This article discusses the epidemiology and pathophysiology of ARVC/D, reviews typical MR imaging findings and diagnostic criteria, and summarizes potential pitfalls in the MR imaging evaluation of patients suspected of having ARVC/D.

  2. A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic: a case report

    Directory of Open Access Journals (Sweden)

    Zagal Ahmad

    2010-04-01

    Full Text Available Abstract Congenital disorders of glycosylation (CDG are an expanding group of inherited metabolic diseases with multisystem involvement. ALG6-CDG (CDGIc is an endoplasmatic reticulum defect in N-glycan assembly. It is usually milder than PMM2-CDG (CDG-Ia and so is its natural course. It is characterized by psychomotor retardation, seizures, ataxia, and hypotonia. In contrast to PMM2-CDG (CDGIa, there is no cerebellar hypoplasia. Cardiomyopathy has been reported in a few CDG types and in a number of patients with unexplained CDG. We report an 11 year old Saudi boy with severe psychomotor retardation, seizures, strabismus, inverted nipples, dilated cardiomyopathy, and a type 1 pattern of serum transferrin isoelectrofocusing. Phosphomannomutase and phosphomannose isomerase activities were normal in fibroblasts. Full gene sequencing of the ALG6 gene revealed a novel mutation namely c.482A>G (p.Y161C and heterozygosity in the parents. This report highlights the importance to consider CDG in the differential diagnosis of unexplained cardiomyopathy.

  3. Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia.

    Science.gov (United States)

    Reinstein, Eyal; Orvin, Katia; Tayeb-Fligelman, Einav; Stiebel-Kalish, Hadas; Tzur, Shay; Pimienta, Allen L; Bazak, Lily; Bengal, Tuvia; Cohen, Lior; Gaton, Dan D; Bormans, Concetta; Landau, Meytal; Kornowski, Ran; Shohat, Mordechai; Behar, Doron M

    2015-04-01

    We describe a Bedouin family with a novel autosomal recessive syndrome characterized by dilated cardiomyopathy and septo-optic dysplasia. Genetic analysis revealed a homozygous missense mutation in TAX1BP3, which encodes a small PDZ domain containing protein implicated in regulation of the Wnt/β-catenin signaling pathway, as the causative mutation. The mutation affects a conserved residue located at the core of TAX1BP3 binding pocket and is predicted to impair the nature of a crucial hydrophobic patch, thereby interrupting the structure and stability of the protein, and its ability to interact with other proteins. TAX1BP3 is highly expressed in heart and brain and consistent with the clinical findings observed in our patients; a knockdown of TAX1BP3 causes elongation defects, enlarged pericard, and enlarged head structures in zebrafish embryos. Thus, we describe a new genetic disorder that expands the monogenic cardiomyopathy disease spectrum and suggests that TAX1BP3 is essential for heart and brain development.

  4. 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.

  5. Myocarditis in Paediatric Patients: Unveiling the Progression to Dilated Cardiomyopathy and Heart Failure

    Directory of Open Access Journals (Sweden)

    Inês Teixeira Farinha

    2016-11-01

    Full Text Available Myocarditis is a challenging and potentially life-threatening disease associated with high morbidity in some paediatric patients, due to its ability to present as an acute and fulminant disease and to ultimately progress to dilated cardiomyopathy. It has been described as an inflammatory disease of the myocardium caused by diverse aetiologies. Viral infection is the most frequent cause of myocarditis in developed countries, but bacterial and protozoal infections or drug hypersensitivity may also be causative agents. The prompt diagnosis in paediatric patients is difficult, as the spectrum of clinical manifestation can range from no myocardial dysfunction to sudden cardiac death. Recent studies on myocarditis pathogenesis have revealed a triphasic nature of this disease, which influences the diagnostic and therapeutic strategies to adopt in each patient. Endomyocardial biopsy remains the gold standard for diagnosing myocarditis, and several non-invasive diagnostic tools can be used to support the diagnosis. Intravenous immunoglobulin has become part of routine practice in the treatment of myocarditis in paediatric patients at many centres, but its true effect on the cardiac function has been the target of many studies. The aim of this review is to approach the recently discovered facets of paediatric myocarditis regarding its progression to dilated cardiomyopathy.

  6. Hypertrophic cardiomyopathy and their therapeutic management in a Lhasa apso dog

    Directory of Open Access Journals (Sweden)

    Deepak K. Kashyap

    Full Text Available Case history and observation: A male, 3 years old Lhasa Apso dog was presented with the history of haematemesis, dehydration, exercise intolerance, poor appetite, lethargy, cough, seizures and syncope for more than 3 weeks. Lateral roentgenogram revealed enlarged heart. Based on radiographic examination alongwith history of seizures and syncope the condition was diagnosed as hypertrophic cardiomyopathy. Treatment: The dog was treated with oral diltiazem @ 1.5 mg/kg body weight, ramipril @ 0.5 mg/kg body weight and frusemide @ 2 mg/kg body weight orally along with fluid therapy. Clinical improvement was noticed from third day. Improvement in appetite and physical activity with complete alleviation of clinical signs was observed by continued diltiazem (1.5 mg/kg, orally and ramipril (0.5 mg/kg. Result: It was reported that the dog continued to improve and became much brighter and active over next 25 days. Post treatment radiograph showed nearly normal size of the heart suggestive of clinical recovery. Conclusion: Thus it is conclude that hypertrophic cardiomyopathy can be comfortably managed by medicinal therapy in canines. [Vet. World 2012; 5(8.000: 493-494

  7. Reproductive History of Women With Takotsubo Cardiomyopathy.

    Science.gov (United States)

    Salmoirago-Blotcher, Elena; Dunsiger, Shira; Swales, Heather H; Aurigemma, Gerard P; Ockene, Ira; Rosman, Lindsey; Wittstein, Ilan S

    2016-12-15

    Takotsubo cardiomyopathy (TC) occurs predominantly in postmenopausal women, suggesting a possible role of reproductive and hormonal factors in the pathophysiology of this condition. Yet reproductive characteristics of women with TC have received limited attention. This prospective case-control study sought to explore reproductive characteristics associated with TC. Incident TC cases and myocardial infarction (MI) controls were recruited among consecutive women presenting at the emergency departments of 2 large medical centers in Massachusetts and Connecticut. Female healthy controls were recruited from a registry of research volunteers. Information about reproductive history was collected 1 month after discharge using standardized questionnaires completed during phone interviews. Linear and logistic regression models were used to estimate associations with reproductive factors. From March 2013 to October 2015, 209 women were screened for eligibility and 107 (45 TC, 32 MI, and 30 healthy controls) were enrolled. Conditions uniquely associated with TC were a history of irregular menses (adjusted OR, TC vs MI 8.30; 95% CI 1.01 to 69.18), number of pregnancies (adjusted β coefficient 0.69; SE 0.35, p = 0.05), and use of post-menopausal hormone replacement therapy (OR 5.79; CI 1.20 to 28.02). We did not find associations with history of infertility, breastfeeding, hysterectomy or oophorectomy, oral contraceptive use, and age at menopause. In conclusion, our findings suggest that premenopausal reproductive factors may play an important role in the onset of TC at a later age. These results need to be confirmed in future studies with larger populations.

  8. Takotsubo cardiomyopathy systematic review: Pathophysiologic process, clinical presentation and diagnostic approach to Takotsubo cardiomyopathy.

    Science.gov (United States)

    Ono, Ryohei; Falcão, L Menezes

    2016-04-15

    Takotsubo cardiomyopathy (TTC) is characterized by transient left ventricular apical ballooning with the absence of coronary occlusion, which typically occurs in older women after emotional or physical stress. The pathophysiology of TTC is not well established, though several possible causes such as catecholamine cardiotoxicity, metabolic disturbance, coronary microvascular impairment and multivessel epicardial coronary artery spasm have been proposed. A number of diagnostic criteria have been suggested in the world and not unified as single, but the most common accepted one is Mayo Clinic proposed criteria. Since the clinical presentation of TTC is usually similar to acute coronary syndrome, differential diagnosis is essential to exclude other diseases and also for its treatment. Imaging modality including echocardiogram, angio CT and cardiac MRI, and lab tests for catecholamine, troponin T, creatine kinase MB and B-type natriuretic peptide can be useful to differentiate TTC from other diseases. Prognosis is generally favorable and in-hospital mortality is from 0% to within 10%.

  9. Cardiac resynchronization therapy in a patient with amyloid cardiomyopathy.

    Science.gov (United States)

    Zizek, David; Cvijić, Marta; Zupan, Igor

    2013-06-01

    Cardiac involvement in systemic light chain amyloidosis carries poor prognosis. Amyloid deposition in the myocardium can alter regional left ventricular contraction and cause dyssynchrony. Cardiac resynchronization therapy (CRT) is an effective treatment strategy for patients with advanced heart failure and echocardiographic dyssynchrony. We report a clinical and echocardiographic response of a patient with amyloid cardiomyopathy, treated with a combination of chemotherapy and CRT.

  10. LMNA cardiomyopathy: cell biology and genetics meet clinical medicine

    Directory of Open Access Journals (Sweden)

    Jonathan T. Lu

    2011-09-01

    Full Text Available Mutations in the LMNA gene, which encodes A-type nuclear lamins (intermediate filament proteins expressed in most differentiated somatic cells, cause a diverse range of diseases, called laminopathies, that selectively affect different tissues and organ systems. The most prevalent laminopathy is cardiomyopathy with or without different types of skeletal muscular dystrophy. LMNA cardiomyopathy has an aggressive clinical course with higher rates of deadly arrhythmias and heart failure than most other heart diseases. As awareness among physicians increases, and advances in DNA sequencing methods make the genetic diagnosis of LMNA cardiomyopathy more common, cardiologists are being faced with difficult questions regarding patient management. These questions concern the optimal use of intracardiac cardioverter defibrillators to prevent sudden death from arrhythmias, and medical interventions to prevent heart damage and ameliorate heart failure symptoms. Data from a mouse model of LMNA cardiomyopathy suggest that inhibitors of mitogen-activated protein kinase (MAPK signaling pathways are beneficial in preventing and treating cardiac dysfunction; this basic research discovery needs to be translated to human patients.

  11. Takotsubo Cardiomyopathy (Broken-Heart Syndrome): A Short Review.

    Science.gov (United States)

    Potu, Kalyan Chakravarthy; Raizada, Amol; Gedela, Maheedhar; Stys, Adam

    2016-04-01

    Takotsubo cardiomyopathy, also called "broken heart" syndrome or apical ballooning syndrome, is a reversible cardiomyopathy characterized by left ventricular dysfunction and ballooning of the left ventricular apex on imaging during systole. It predominantly occurs in post-menopausal women and is commonly associated with emotional or physical stress. Patients commonly present with chest pain and electrocardiographic evidence of ST segment elevation or T-wave-mimicking acute coronary syndrome, but with an absence of angiographic evidence of obstructive coronary disease. The exact cause is unknown, but potential contributors include catecholamine excess and sympathetic nervous system hyperactivity. There is no consensus on pharmacological treatment of takotsubo cardiomyopathy. Based on the suspected pathophysiology of the disease, adrenergic blockade using beta-blocker therapy is employed. Near complete resolution of left ventricular wall motion dyskinesis occurs in the majority of takotsubo cardiomyopathy patients within a month. Although the prognosis is generally favorable, there are reports of complications during the acute phase, including cardiogenic shock, pulmonary edema, ventricular tachycardia, apical thrombus formation, and death. This review article will briefly discuss the epidemiology, etiology, clinical features, diagnostic evaluation, and treatment of this condition.

  12. Pheochromocytoma presenting as takotsubo-like cardiomyopathy following delivery

    NARCIS (Netherlands)

    Jozwik-Plebanek, K.; Peczkowska, M.; Klisiewicz, A.; Wrzesinski, K.; Prejbisz, A.; Niewada, M.; Kabat, M.; Szperl, M.; Eisenhofer, G.; Lenders, J.W.M.; Januszewicz, A.

    2014-01-01

    OBJECTIVE: Diagnosis of pheochromocytoma during pregnancy can be difficult, and the tumor carries an unfavorable prognosis if not diagnosed and treated in a timely manner. METHODS: To present a case of Takotsubo-like cardiomyopathy characterized by transient left ventricular apical ballooning due to

  13. Takotsubo cardiomyopathy is an acute cardiac syndrome induced by stress

    DEFF Research Database (Denmark)

    Fuchs, Annette Maria; Bang, Lia E; Holmvang, Lene;

    2016-01-01

    Takotsubo cardiomyopathy (TTC) is an acute cardiac syndrome, characterized by transient left ventricular dysfunction often following a stressful event in post-menopausal women. Symptoms are indistinguishable from myocardial infarction. However, TTC patients do not have a culprit lesion on acute...

  14. Takotsubo cardiomyopathy with severe bradyarrhythmia following epidural insertion

    Science.gov (United States)

    Gamble, David T; Shuttleworth, Kara J; Scally, Caroline; Leslie, Stephen J

    2016-01-01

    We present a case of takotsubo cardiomyopathy (TTC) with ventricular stand still and atrioventricular block. TTC can mimic ST elevation myocardial infarction and heart failure, but in this case resulted in a severe cardiac conduction disorder and ventricular standstill. This is a recognised but unusual presentation and serves as a lesson to those undertaking anaesthetics to be vigilant for TTC. PMID:27797840

  15. Stress-induced cardiomyopathy (Takotsubo – broken heart and mind?

    Directory of Open Access Journals (Sweden)

    Redfors B

    2013-04-01

    Full Text Available Björn Redfors, Yangzhen Shao, Elmir Omerovic Department of Molecular and Clinical Medicine, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden Abstract: Stress-induced cardiomyopathy (SIC, also known as Takotsubo cardiomyopathy, is characterized by severe but potentially reversible regional left ventricular wall motion abnormalities, ie, akinesia, in the absence of explanatory angiographic evidence of a coronary occlusion. The typical pattern is that of an akinetic apex with preserved contractions in the base, but other variants are also common, including basal or midmyocardial akinesia with preserved apical function. The pathophysiology of SIC remains largely unknown but catecholamines are believed to play a pivotal role. The diverse array of triggering events that have been linked to SIC are arbitrarily categorized as either emotional or somatic stressors. These categories can be considered as different elements of a continuous spectrum, linked through the interface of neurology and psychiatry. This paper reviews our current knowledge of SIC, with focus on the intimate relationship between the brain and the heart. Keywords: stress-induced cardiomyopathy, takotsubo cardiomyopathy, catecholamine, cerebral injury, emotional stress, somatic stress

  16. Characteristic adaptations of the extracellular matrix in dilated cardiomyopathy

    NARCIS (Netherlands)

    Louzao-Martinez, Laura; Vink, Aryan; Harakalova, Magdalena; Asselbergs, Folkert W; Verhaar, Marianne C; Cheng, Caroline

    2016-01-01

    Dilated cardiomyopathy (DCM) is a relatively common heart muscle disease characterized by the dilation and thinning of the left ventricle accompanied with left ventricular systolic dysfunction. Myocardial fibrosis is a major feature in DCM and therefore it is inevitable that corresponding extracellu

  17. Haplotype sharing test maps genes for familial cardiomyopathies

    NARCIS (Netherlands)

    van der Zwaag, P. A.; van Tintelen, J. P.; Gerbens, F.; Jongbloed, J. D. H.; Boven, L. G.; van der Smagt, J. J.; van der Roest, W. P.; van Langen, I. M.; Bikker, H.; Hauer, R. N. W.; van den Berg, M. P.; Hofstra, R. M. W.; te Meerman, Gerhardus

    2011-01-01

    Identifying a mutation in a heterogeneous disease such as inherited cardiomyopathy is a challenge because classical methods, like linkage analysis, can often not be applied as there are too few meioses between affected individuals. However, if affected individuals share the same causal mutation, the

  18. Bradyarrhythmias: first presentation of arrhythmogenic right ventricular cardiomyopathy?

    Science.gov (United States)

    Burghouwt, Danielle E; Kammeraad, Janneke Ae; Knops, Paul; du Plessis, Frederik A; de Groot, Natasja Ms

    2015-04-01

    Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disorder characterized by progressive replacement of myocardial cells by fibro-fatty tissue giving rise to ventricular tachyarrhythmias. In this case report, we describe a pediatric patient with sinoatrial arrests and second degree atrioventricular conduction block several years before ARVC became apparent. These findings suggest that bradyarrhythmias can also be the first expression of ARVC.

  19. Myocardial Recovery in Peripartum Cardiomyopathy After Hyperprolactinemia Treatment on BIVAD.

    Science.gov (United States)

    Wiedemann, Dominik; Schlöglhofer, Thomas; Riebandt, Julia; Neuner, Markus; Tschernko, Edda; Schima, Heinrich; Zimpfer, Daniel

    Peripartum cardiomyopathy (PPCMP) requiring mechanical circulatory support is rare; however, it is a life-threatening disease with recovery rates poorer than expected. Herein, we describe a case of successful recovery of a patient with PPCMP. Implantation of a biventricular ventricular assist device was performed; additionally, the patient's hyperprolactinemia was treated with cabergoline, resulting in a fast complete restoration of ventricular function.

  20. A serious complication in the puerperium : peripartum cardiomyopathy

    NARCIS (Netherlands)

    Bosch, M. G. E.; Santema, J. G.; van der Voort, P. H. J.; Bams, J. L.

    2008-01-01

    Two women, aged 27, presented with different symptoms shortly after giving birth to their first child. Peripartum cardiomyopathy (PPCM) was diagnosed. PPCM is a rare form of cardiac failure occurring late in pregnancy or in the postpartum period. Many women experience dyspnoea, fatigue, and pedal oe

  1. Reversible transition from a hypertrophic to a dilated cardiomyopathy

    Science.gov (United States)

    Spillmann, Frank; Kühl, Uwe; Van Linthout, Sophie; Dominguez, Fernando; Escher, Felicitas; Schultheiss, Heinz‐Peter; Pieske, Burkert

    2015-01-01

    Abstract We report the case of a 17‐year‐old female patient with known hypertrophic cardiomyopathy and a Wolff‐Parkinson‐White syndrome. She came to our department for further evaluation of a new diagnosed dilated cardiomyopathy characterized by an enlargement of the left ventricle and a fall in ejection fraction. Clinically, she complained about atypical chest pain, arrhythmic episodes with presyncopal events, and dyspnea (NYHA III) during the last 6 months. Non‐invasive and invasive examinations including magnetic resonance imaging, electrophysiological examinations, and angiography did not lead to a conclusive diagnosis. Therefore, endomyocardial biopsies (EMBs) were taken to investigate whether a specific myocardial disease caused the impairment of the left ventricular function. EMB analysis resulted in the diagnosis of a virus‐negative, active myocarditis. Based on this diagnosis, an immunosuppressive treatment with prednisolone and azathioprine was started, which led to an improvement of cardiac function and symptoms within 3 months after initiating therapy. In conclusion, we show that external stress triggered by myocarditis can induce a reversible transition from a hypertrophic cardiomyopathy to a dilated cardiomyopathy phenotype. This case strongly underlines the need for a thorough and invasive examination of heart failure of unknown causes, including EMB investigations as recommend by the actual ESC position statement. PMID:27774273

  2. BSE-associated prion-amyloid cardiomyopathy in primates.

    Science.gov (United States)

    Krasemann, Susanne; Mearini, Giulia; Krämer, Elisabeth; Wagenführ, Katja; Schulz-Schaeffer, Walter; Neumann, Melanie; Bodemer, Walter; Kaup, Franz-Josef; Beekes, Michael; Carrier, Lucie; Aguzzi, Adriano; Glatzel, Markus

    2013-06-01

    Prion amyloidosis occurred in the heart of 1 of 3 macaques intraperitoneally inoculated with bovine spongiform encephalopathy prions. This macaque had a remarkably long duration of disease and signs of cardiac distress. Variant Creutzfeldt-Jakob disease, caused by transmission of bovine spongiform encephalopathy to humans, may manifest with cardiac symptoms from prion-amyloid cardiomyopathy.

  3. Ischemic neuropathy and rhabdomyolysis as presenting symptoms of postpartum cardiomyopathy.

    Science.gov (United States)

    Helmich, Rick C G; van Laarhoven, Hanneke W M; Schoonderwaldt, Hennie C; Janssen, Mirian C H

    2009-05-01

    Rhabdomyolysis and peripheral neuropathy are two distinct disease entities which are rarely encountered in combination. We present a woman with rhabdomyolysis and peripheral neuropathy 3 weeks postpartum. Her symptoms were caused by bilateral femoral artery thrombosis due to postpartum cardiomyopathy (PPCM). This demonstrates that PPCM may present with predominantly non-cardial symptoms and underscores the importance of rapidly recognizing this disorder.

  4. Oxidative Stress in Dilated Cardiomyopathy Caused by MYBPC3 Mutation

    NARCIS (Netherlands)

    T.L. Lynch (Thomas L.); M. Sivaguru (Mayandi); M. Velayutham (Murugesan); A.J. Cardounel (Arturo J.); M. Michels (Michelle); D. Barefield (David); S. Govindan (Suresh); C.D. Remedios (Cristobal Dos); J. van der Velden (Jolanda); S. Sadayappan (Sakthivel)

    2015-01-01

    textabstractCardiomyopathies can result from mutations in genes encoding sarcomere proteins including MYBPC3, which encodes cardiac myosin binding protein-C (cMyBP-C). However, whether oxidative stress is augmented due to contractile dysfunction and cardiomyocyte damage in MYBPC3-mutated cardiomyopa

  5. LMNA cardiomyopathy: cell biology and genetics meet clinical medicine.

    Science.gov (United States)

    Lu, Jonathan T; Muchir, Antoine; Nagy, Peter L; Worman, Howard J

    2011-09-01

    Mutations in the LMNA gene, which encodes A-type nuclear lamins (intermediate filament proteins expressed in most differentiated somatic cells), cause a diverse range of diseases, called laminopathies, that selectively affect different tissues and organ systems. The most prevalent laminopathy is cardiomyopathy with or without different types of skeletal muscular dystrophy. LMNA cardiomyopathy has an aggressive clinical course with higher rates of deadly arrhythmias and heart failure than most other heart diseases. As awareness among physicians increases, and advances in DNA sequencing methods make the genetic diagnosis of LMNA cardiomyopathy more common, cardiologists are being faced with difficult questions regarding patient management. These questions concern the optimal use of intracardiac cardioverter defibrillators to prevent sudden death from arrhythmias, and medical interventions to prevent heart damage and ameliorate heart failure symptoms. Data from a mouse model of LMNA cardiomyopathy suggest that inhibitors of mitogen-activated protein kinase (MAPK) signaling pathways are beneficial in preventing and treating cardiac dysfunction; this basic research discovery needs to be translated to human patients.

  6. 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....

  7. The correlation between peripartum cardiomyopathy and autoantibodies against cardiovascular receptors.

    Directory of Open Access Journals (Sweden)

    Jiamei Liu

    Full Text Available BACKGROUND: Peripartum cardiomyopathy (PPCM is characterized by left ventricular systolic dysfunction and heart failure. However, its pathogenesis is not clear. Our preliminary study revealed that autoantibodies against β1-adrenergic receptors (β1R-AABs and M2-muscarinic receptors (M2R-AABs participated in heart failure regardless of primary heart disease. Whether β1R-AABs and M2R-AABs participate in the pathogenesis of PPCM is still unknown. METHODS: Totally 37 diagnosed PPCM patients and 36 normal pregnant women were enrolled in this study. Clinical assessment and 2-dimensional echocardiographic studies as well as the measurement of β1R-AABs or M2R-AABs by enzyme linked immunosorbent assay (ELISA were performed. RESULTS: The positive rates for β1R-AABs and M2R-AABs were 59.5% (22/37 and 45.9% (17/37 in PPCM patients, and 19.4% (7/36 (P<0.001 and 16.67% (6/36 (P<0.001 in normal pregnant women, respectively. Both β1R-AABs and M2R-AABs had a positive correlation with serum expression level of NT-proBNP, left ventricular dimension and NYHA FC (rs: 0.496-0.892, P<0.01. In addition, a negative correlation between the activity of β1R-AABs and M2R-AABs and LVEF, LVFS was observed (rs: -0.488-0.568, P<0.01. Moreover, autoantibodies against cardiovascular receptors increased the risk of the onset of PPCM (OR = 18.786, 95% confidence interval 1.926-183.262, P = 0.012. CONCLUSIONS: The β1R-AABs and M2R-AABs reveal a significant elevation and are correlated with the increased left ventricular dimension and worse cardiac contraction function. The autoantibodies of cardiovascular receptors are independent risk factors for the onset of PPCM.

  8. Transient Myocarditis and Cardiomyopathy After Scorpion and Spider Envenomation

    Directory of Open Access Journals (Sweden)

    Mustafa Kır

    2011-08-01

    Full Text Available Introduction: Spider and scorpion stings can cause multiple clinical manifestations such as local skin reactions or multiple organ failure that can cause death. Multi-organ involvement is more frequent in children due to their lower body weight. The most important life threatening event after the sting is cardiac and lung involvement. In this case report, two cases who developed myocarditis and cardiomyopathy following scorpion and spider stings were reported.Case Report: Clinical evaluation of a ten-year-old boy with respiratory distress and tachycardia after being bitten by a spider on his right hand revealed high levels of cardiac enzymes [CK-MB: 16.5 ng/ml (N:0.0-7.2 ng/ml, troponin: 3.06 ng/ml (N:0.0-0.3ng/ml], pathological ST elevations in leads V3 and V4, and T wave negativity in leads V5 and V6. In echocardiography, left ventricular dilatation and moderate systolic dysfunction were found. Antivenom [Serum antiscorpionique (labs 50] was given (5 cc antivenom was administered intravenously following a 1:10 dilution with normal saline. With supportive treatment, all pathological findings resolved in a week. The second case was an eight-year-old boy who had been bitten by a scorpion on his foot and taken to the intensive care unit because of respiratory distress and convulsion. Two doses of antivenom were given to the case who had elevated levels of troponin and CK-MB, pathological ST depressions in ECG, and left ventricular dilatation and systolic dysfunction, as revealed by echocardiography. With dobutamin and supportive treatment, the pathological findings normalized in ten days.Conclusion: Myocarditis developing following spider or scorpion bites can threaten life due to left ventricular systolic dysfunction. This consequence has been attributed to increased catecholaminergic activity or direct effect of toxin to myocardial fibres. ECG must be performed, cardiac enzymes must be monitored and echocardiography must be done to evaluate

  9. Acute myocardial infarction and stress cardiomyopathy following the Christchurch earthquakes.

    Directory of Open Access Journals (Sweden)

    Christina Chan

    Full Text Available BACKGROUND: Christchurch, New Zealand, was struck by 2 major earthquakes at 4:36 am on 4 September 2010, magnitude 7.1 and at 12:51 pm on 22 February 2011, magnitude 6.3. Both events caused widespread destruction. Christchurch Hospital was the region's only acute care hospital. It remained functional following both earthquakes. We were able to examine the effects of the 2 earthquakes on acute cardiac presentations. METHODS: Patients admitted under Cardiology in Christchurch Hospital 3 week prior to and 5 weeks following both earthquakes were analysed, with corresponding control periods in September 2009 and February 2010. Patients were categorised based on diagnosis: ST elevation myocardial infarction, Non ST elevation myocardial infarction, stress cardiomyopathy, unstable angina, stable angina, non cardiac chest pain, arrhythmia and others. RESULTS: There was a significant increase in overall admissions (p<0.003, ST elevation myocardial infarction (p<0.016, and non cardiac chest pain (p<0.022 in the first 2 weeks following the early morning September earthquake. This pattern was not seen after the early afternoon February earthquake. Instead, there was a very large number of stress cardiomyopathy admissions with 21 cases (95% CI 2.6-6.4 in 4 days. There had been 6 stress cardiomyopathy cases after the first earthquake (95% CI 0.44-2.62. Statistical analysis showed this to be a significant difference between the earthquakes (p<0.05. CONCLUSION: The early morning September earthquake triggered a large increase in ST elevation myocardial infarction and a few stress cardiomyopathy cases. The early afternoon February earthquake caused significantly more stress cardiomyopathy. Two major earthquakes occurring at different times of day differed in their effect on acute cardiac events.

  10. The characteristics of stress cardiomyopathy in an ethnically heterogeneous population

    Directory of Open Access Journals (Sweden)

    Francisco O Nascimento

    2011-01-01

    Full Text Available OBJECTIVES: Stress cardiomyopathy is a cardiac syndrome that is characterized by transient left ventricular systolic dysfunction in the absence of obstructive coronary artery disease. Its epidemiology has been described in homogeneous Asian, Caucasian and Black populations, but its characteristics in heterogeneous populations are poorly understood. Our aim was to assess the characteristics of stress cardiomyopathy in a heterogeneous population that included a large percentage of Hispanics. METHODS: We reviewed 59 consecutive cases of stress cardiomyopathy that were confirmed by coronary angiography and were in agreement with the Mayo Clinic diagnostic criteria. RESULTS: The mean age of the patients was 74 years (range, 39-91 years, and 37 patients were female (62.7%. Twenty-nine patients (49.2% were Latino/Hispanic, 26 (44% were Caucasian, 3 (5% were Asian, and 1 patient (1.7% was Black. The most common chief symptom was dyspnea, followed by chest pain and an absence of symptoms in 54.2, 28.8, and 18.6% of the patients, respectively. The primary EKG abnormalities consisted of a T wave inversion, an ST segment elevation, and ST segment depression in 69.5%, 25.4%, and 15.3% of the patients, respectively. The stressor event was identified in 90% of the cases. In 32 cases (54%, the stressor event was physical stress or a medical illness, and in 21 cases (35.6%, the stressor event was emotional stress. The in-hospital mortality rate was 8.5%. CONCLUSIONS: In our heterogeneous study population, stress cardiomyopathy presented with a 3:2 female-to-male ratio, and dyspnea was the most common chief complaint. Stress cardiomyopathy exhibited a T wave inversion as the primary EKG abnormality. These findings differ from previous cases that have been reported, and further studies are needed.

  11. Comparison of Benefits from Cardiac Resynchronization Therapy between Patients with Ischemic Cardiomyopathy and Patients with Idiopathic Dilated Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Talia Alenabi

    2009-06-01

    Full Text Available Background: Cardiac resynchronization therapy (CRT is an effective treatment for patients with moderate to severe heart failure. However, 20-30% of patients remain non-responders to CRT. We sought to identify which patients benefit the most from CRT in regard to the etiology of heart failure. Methods: Eighty-three consecutive patients (62 men who had a biventricular pacemaker inserted at Tehran Heart Center between May 2004 and March 2007 were evaluated retrospectively. The inclusion criteria were comprised of New York Heart Association (NYHA class III or IV, left ventricular ejection fraction120ms. After 6 months, response was defined as being alive, no hospitalization for cardiac decompensation, and an improvement in NYHA class>1 grade. Results: After 6 months, 60 patients out of the 83 patients were responders. Amongst the 83 patients, 48 had ischemic cardiomyopathy and 35 had non-ischemic cardiomyopathy. A cross-tabulation of response versus etiology showed no significant difference between ischemic versus non-ischemic cardiomyopathy with regard to response to CRT (P=0.322. Conclusion: According to our study, there was no difference in response to CRT between ischemic versus non-ischemic cardiomyopathy at six months’ follow-up.

  12. Value of cardiovascular MR in diagnosing left ventricular non-compaction cardiomyopathy and in discriminating between other cardiomyopathies

    Energy Technology Data Exchange (ETDEWEB)

    Grothoff, Matthias; Lehmkuhl, Lukas; Gutberlet, Matthias [University of Leipzig - Heart Center, Department of Diagnostic and Interventional Radiology, Leipzig (Germany); Pachowsky, Milena [Klinik fuer Strahlenheilkunde, Charite, Campus Virchow-Klinikum, Berlin (Germany); Hoffmann, Janine [University of Leipzig, Department of Obstetrics, Leipzig (Germany); Posch, Maximilian [Department of Cardiothoracic Surgery, Deutsches Herzzentrum Berlin, Berlin (Germany); Klaassen, Sabine [Experimental and Clinical Research Center, Charite Medical Faculty and Max Delbrueck Center for Molecular Medicine, Berlin (Germany)

    2012-12-15

    To analyse the value of cardiovascular magnetic resonance (CMR)-derived myocardial parameters to differentiate left ventricular non-compaction cardiomyopathy (LVNC) from other cardiomyopathies and controls. We retrospectively analysed 12 patients with LVNC, 11 with dilated and 10 with hypertrophic cardiomyopathy and compared them to 24 controls. LVNC patients had to fulfil standard echocardiographic criteria as well as additional clinical and imaging criteria. Cine steady-state free precession and late gadolinium enhancement (LGE) imaging was performed. The total LV myocardial mass index (LV-MMI), compacted (LV-MMI{sub compacted}), non-compacted (LV-MMI{sub non-compacted}), percentage LV-MM{sub non-compacted}, ventricular volumes and function were calculated. Data were compared using analysis of variance and Dunnett's test. Additionally, semi-quantitative segmental analyses of the occurrence of increased trabeculation were performed. Total LV-MMI{sub non-compacted} and percentage LV-MM{sub non-compacted} were discriminators between patients with LVCN, healthy controls and those with other cardiomyopathies with cut-offs of 15 g/m{sup 2} and 25 %, respectively. Furthermore, trabeculation in basal segments and a ratio of non-compacted/compacted myocardium of {>=}3:1 were criteria for LVNC. A combination of these criteria provided sensitivities and specificities of up to 100 %. None of the LVNC patients demonstrated LGE. Absolute CMR quantification of the LV-MMI{sub non-compacted} or the percentage LV-MM{sub non-compacted} and increased trabeculation in basal segments allows one to reliably diagnose LVNC and to differentiate it from other cardiomyopathies. (orig.)

  13. Magnetic Resonance Imaging of Non-ischemic Cardiomyopathies: A Pictorial Essay

    Directory of Open Access Journals (Sweden)

    Cristina I Olivas-Chacon

    2015-01-01

    Full Text Available Non-ischemic cardiomyopathies are defined as either primary or secondary diseases of the myocardium resulting in cardiac dysfunction. While primary cardiomyopathies are confined to the heart and can be genetic or acquired, secondary cardiomyopathies show involvement of the heart as a manifestation of an underlying systemic disease including metabolic, inflammatory, granulomatous, infectious, or autoimmune entities. Non-ischemic cardiomyopathies are currently classified as hypertrophic, dilated, restrictive, or unclassifiable, including left ventricular non-compaction. Cardiovascular Magnetic Resonance Imaging (CMRI not only has the capability to assess cardiac morphology and function, but also the ability to detect edema, hemorrhage, fibrosis, and intramyocardial deposits, providing a valuable imaging tool in the characterization of non-ischemic cardiomyopathies. This pictorial essay shows some of the most important non-ischemic cardiomyopathies with an emphasis on magnetic resonance imaging features.

  14. Magnetic Resonance Imaging of Non-ischemic Cardiomyopathies: A Pictorial Essay.

    Science.gov (United States)

    Olivas-Chacon, Cristina I; Mullins, Carola; Stewart, Kevan; Akle, Nassim; Calleros, Jesus E; Ramos-Duran, Luis R

    2015-01-01

    Non-ischemic cardiomyopathies are defined as either primary or secondary diseases of the myocardium resulting in cardiac dysfunction. While primary cardiomyopathies are confined to the heart and can be genetic or acquired, secondary cardiomyopathies show involvement of the heart as a manifestation of an underlying systemic disease including metabolic, inflammatory, granulomatous, infectious, or autoimmune entities. Non-ischemic cardiomyopathies are currently classified as hypertrophic, dilated, restrictive, or unclassifiable, including left ventricular non-compaction. Cardiovascular Magnetic Resonance Imaging (CMRI) not only has the capability to assess cardiac morphology and function, but also the ability to detect edema, hemorrhage, fibrosis, and intramyocardial deposits, providing a valuable imaging tool in the characterization of non-ischemic cardiomyopathies. This pictorial essay shows some of the most important non-ischemic cardiomyopathies with an emphasis on magnetic resonance imaging features.

  15. Indium-111 antimyosin monoclonal antibody uptake in patients with cardiomyopathy and myocarditis

    Energy Technology Data Exchange (ETDEWEB)

    Matsumori, Akira; Yamada, Takehiko; Morishima, Shigeru (Kyoto Univ. (Japan). Faculty of Medicine) (and others)

    1990-10-01

    Prognostic significance of myocardial uptake of indium-111 antimyosin antibody was evaluated in 17 patients with idiopathic cardiomyopathy; 10 patients with dilated cardiomyopathy and 7 patients with hypertrophic cardiomyopathy. Seven of 10 patients with dilated cardiomyopathy showed positive images. Three of these 7 patients with strongly positive scans died after scintigraphic examination. Six of 7 patients with hypertrophic cardiomyopathy showed positive images. Three of the patients with dilated left ventricle had prominent positive scans and higher heart to lung ratio. The heart to lung ratio of antimyosin uptake in total patients was correlated with left ventricular end-diastolic dimension and ejection fraction measured by echocardiography. In patients with myocarditis, all three patients showed positive scintigrams within 4 weeks after the onset of the disease and 1 of 6 patients was positive thereafter, who had dilated ventricle and decreased cardiac function. Thus, indium-111 antimyosin antibody imaging may be useful to evaluate prognosis of patients with cardiomyopathy and myocarditis. (author).

  16. Physiological left ventricular hypertrophy or hypertrophic cardiomyopathy in an elite adolescent athlete: role of detraining in resolving the clinical dilemma

    Science.gov (United States)

    Basavarajaiah, S; Wilson, M; Junagde, S; Jackson, G; Whyte, G; Sharma, S

    2006-01-01

    The differentiation of physiological left ventricular hypertrophy (LVH) from hypertrophic cardiomyopathy (HCM) can prove challenging for even the most experienced cardiologists. The case is presented of a 17 year old elite swimmer who had electrocardiographic and echocardiographic features that were highly suggestive of HCM. However, indices of diastolic function were normal and cardiopulmonary exercise testing revealed high peak oxygen consumption in keeping with physiological LVH. To resolve the diagnostic dilemma, the patient underwent detraining for eight weeks, after which, there was complete resolution of the changes seen on electrocardiogram and echocardiogram, indicating physiological LVH rather than HCM. PMID:16864569

  17. Sheehan’s syndrome with reversible dilated cardiomyopathy: A case report and brief overview

    Science.gov (United States)

    Islam, A.K.M. Monwarul; Hasnat, Mohammad A.; Doza, Fatema; Jesmin, Humayra

    2014-01-01

    Sheehan’s syndrome is a rare condition characterized by post-partal panhypopituitarism due to necrosis of adenohypophysis resulting from severe post-partum hemorrhage. Lethargy, amenorrhea and failure of lactation are the usual presenting features. Cardiac involvement in Sheehan’s syndrome is rare. The case presented here describes dilated cardiomyopathy in a 36-year-old lady who failed to respond adequately to the standard anti-failure treatment. Further investigation revealed the diagnosis of Sheehan’s syndrome. Besides other manifestations, cardiac function reverted to normal after giving replacement therapy with glucocorticoid, levothyroxine and sex hormone. Physicians, specially those in developing countries, should have high index of suspicion for the diagnosis of Sheehan’s syndrome while dealing with a case of ‘peripartal dilated cardiomyopathy’. Persistent amenorrhea and failure of lactation may be important clues in this context. Timely diagnosis and appropriate treatment can lessen the sufferings of the patients. PMID:24719543

  18. Cardiomyopathy and right-sided congestive heart failure in a red-tailed hawk (Buteo jamaicensis).

    Science.gov (United States)

    Knafo, S Emmanuelle; Rapoport, Gregg; Williams, Jamie; Brainard, Benjamin; Driskell, Elizabeth; Uhl, Elizabeth; Crochik, Sonia; Divers, Stephen J

    2011-03-01

    A 15-year-old female red-tailed hawk (Buteo jamaicensis) was evaluated because of dyspnea, anorexia, and coelomic distension. Diagnostic imaging results confirmed severe coelomic effusion and revealed a markedly dilated right ventricle. The diagnosis was right-sided congestive heart failure. Results of measurements of vitamin E, selenium, lead, zinc, and cardiac troponin levels were normal or nondiagnostic. The hawk was treated with furosemide, antifungal and antimicrobial agents, and supplemental fluids and oxygen, but euthanasia was elected because of the poor prognosis and the practical difficulties associated with intensive case management. To our knowledge, this is the first described case of cardiomyopathy and congestive heart failure in a captive red-tailed hawk.

  19. Outflow tract segmental arrhythmogenic right ventricular cardiomyopathy in an English Bulldog.

    Science.gov (United States)

    Santilli, Roberto A; Bontempi, Luigi V; Perego, Manuela; Fornai, Lara; Basso, Cristina

    2009-06-01

    A 5-year-old English Bulldog was presented for acute onset of syncope and fatigue caused by sustained ventricular tachycardia with left bundle block morphology and inferior axis. This arrhythmia had the electrocardiographic features of a ventricular tachycardia arising from the right ventricular outflow tract (RVOT), as described in an experimental canine model and in people. Since a RVOT aneurysm was identified by echocardiography, a segmental form of arrhythmogenic right ventricular cardiomyopathy (ARVC) was suspected. Gross examination of the heart confirmed the bulging of the RVOT and histological examination of the ventricular myocardium revealed segmental involvement of the RVOT with transmural fibro-fatty degeneration. To the authors' knowledge, this is the first reported case of AVRC in an English Bulldog and the first example of segmental AVRC described in the dog.

  20. Takotsubo cardiomyopathy after acute myocardial infarction: An unusual case of possible association.

    Science.gov (United States)

    Ferrara, Francesco; Baldi, Cesare; Malinconico, Marisa; Acri, Edvige; Cirillo, Annapaola; Citro, Rodolfo; Bossone, Eduardo

    2016-04-01

    Takotsubo cardiomyopathy is an acute reversible clinical condition mimicking an acute myocardial infarction. Although a normal coronary artery tree is frequently detected, the concurrence of coronary artery disease is a common finding in a substantial proportion of patients. We report an unusual case of takotsubo cardiomyopathy in post-menopausal women after emotional stress, occurring after inferior ST-segment elevation myocardial infarction. The possible association between takotsubo cardiomyopathy and coronary artery disease is discussed.

  1. RESTRICTIVE CARDIOMYOPATHY AND SECONDARY CONGESTIVE HEART FAILURE IN A MCDOWELL'S CARPET PYTHON (MORELIA SPILOTA MCDOWELLI).

    Science.gov (United States)

    Schilliger, Lionel; Chetboul, Valérie; Damoiseaux, Cécile; Nicolier, Alexandra

    2016-12-01

    Echocardiography is an established and noninvasive diagnostic tool used in herpetologic cardiology. Various cardiac lesions have been previously described in reptiles with the exception of restrictive cardiomyopathy. In this case report, restrictive cardiomyopathy and congestive heart failure associated with left atrial and sinus venosus dilation were diagnosed in a 2-yr-old captive lethargic McDowell's carpet python ( Morelia spilota mcdowelli), based on echocardiographic, Doppler, and histopathologic examinations. This cardiomyopathy was also associated with thrombosis within the sinus venosus.

  2. 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.)

  3. Fontan operation in a paediatric patient with a history of Takotsubo cardiomyopathy.

    Science.gov (United States)

    Watanabe, Maya; Shiraishi, Shuichi; Takahashi, Masashi; Tsuchida, Masanori

    2014-08-01

    Takotsubo cardiomyopathy is very rare in the paediatric population and has not been described in a single-ventricle patient yet. We report the case of a 4-year old boy with a history of Takotsubo cardiomyopathy in whom we performed a Fontan operation. After coil embolization of the minor aortopulmonary collateral arteries, the patient developed Takotsubo cardiomyopathy. His cardiac function largely recovered over 3 months. He subsequently progressed to a Fontan operation and was weaned uneventfully off cardiopulmonary bypass, on minimal doses of dopamine and milrinone; he was sedated using a dexmedetomidine infusion and a midazolam bolus. There were no signs of recurrent Takotsubo cardiomyopathy over the subsequent 2 years.

  4. Takotsubo Cardiomyopathy in Two Patients without Any Cardiac Symptom on Maintenance Hemodialysis

    Directory of Open Access Journals (Sweden)

    Jun Muratsu

    2013-01-01

    Full Text Available Takotsubo cardiomyopathy is a disorder characterized by left ventricular apical ballooning and electrocardiographic changes in the absence of coronary artery disease. While reversible in many cases, the mechanism of this disorder remains unclear. The most frequent clinical symptoms of takotsubo cardiomyopathy on admission are chest pain and dyspnea, resembling acute myocardial infarction. Here, we describe two cases of takotsubo cardiomyopathy without chest pain or dyspnea in patients on maintenance hemodialysis. The asymptomatic nature of these two cases may be due to the patients being on hemodialysis. Periodic electrocardiograms (ECG may be helpful in screening this population for asymptomatic takotsubo cardiomyopathy and in evaluating its incidence.

  5. Stress-induced cardiomyopathy (Takotsubo)--broken heart and mind?

    Science.gov (United States)

    Redfors, Björn; Shao, Yangzhen; Omerovic, Elmir

    2013-01-01

    Stress-induced cardiomyopathy (SIC), also known as Takotsubo cardiomyopathy, is characterized by severe but potentially reversible regional left ventricular wall motion abnormalities, ie, akinesia, in the absence of explanatory angiographic evidence of a coronary occlusion. The typical pattern is that of an akinetic apex with preserved contractions in the base, but other variants are also common, including basal or midmyocardial akinesia with preserved apical function. The pathophysiology of SIC remains largely unknown but catecholamines are believed to play a pivotal role. The diverse array of triggering events that have been linked to SIC are arbitrarily categorized as either emotional or somatic stressors. These categories can be considered as different elements of a continuous spectrum, linked through the interface of neurology and psychiatry. This paper reviews our current knowledge of SIC, with focus on the intimate relationship between the brain and the heart.

  6. Hypertrophic Obstructive Cardiomyopathy and Takotsubo Syndrome: Could They Coexist?

    Directory of Open Access Journals (Sweden)

    Egea-Serrano

    2015-11-01

    Full Text Available Introduction Takotsubo syndrome (TKS is generally caused by a stressful condition, and it usually has a good prognosis after the recovery of left ventricular function. About 70% of the cases of hypertrophic cardiomyopathy may develop obstruction in the left ventricular outflow tract (LVOT, which is responsible for heart failure. Case Presentation We present a unique case where TKS occurred in a middle-aged male patient with hypertrophic obstructive cardiomyopathy (HOCM without a clearly identifiable initial stress trigger. Conclusions In the setting of acute left ventricular function depression in HOCM, a comprehensive differential diagnosis should be established. Treatment should be based on hemodynamic changes. After recovery, the prognosis is related to HOCM.

  7. A case of chronic left ventricular thrombus with ischemic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Vikram Bhausaheb Vikhe

    2013-01-01

    Full Text Available Left ventricular (LV thrombus is a serious complication of anterior wall myocardial infarction (MI, especially in patients with severe LV dysfunction. LV thrombus carries a high risk of causing stroke and other thromboembolic complications despite adequate anticoagulation therapy. There is a benefit of anticoagulation in patients with ischemic cardiomyopathy to reduce thromboembolic events or in resolution of LV thrombus. Two-dimensional (2D echocardiography is the most commonly used technique for the diagnosis and follow-up of such cases. Our patient developed a chronic LV thrombus with ischemic cardiomyopathy post anterior wall MI and was managed well on anticoagulants to prevent the thromboembolic events under strict vigilance and follow-up.

  8. Takotsubo Cardiomyopathy in a Patient with Undiscovered Sigmoid Colon Cancer

    Directory of Open Access Journals (Sweden)

    Huang Po-Yen

    2017-01-01

    Full Text Available Takotsubo cardiomyopathy (TTC is a stress-related cardiomyopathy that is characterized by reversible left systolic dysfunction, which appears to be precipitated by sudden emotional or physical stress in the absence of myocardial infarction. Here we present a rare case that clinically presented with intermittent abdominal pain, initially impressed as non-ST elevation myocardial infarction and congestive heart failure but with a normal coronary angiogram. Her symptoms relieved spontaneously without returning. Sigmoid colon cancer was diagnosed via colonoscopy later due to persistent abdominal discomfort. In the absence of detectable emotional or physical stress factors, the newly diagnosed sigmoid colon cancer was the only possible trigger factor of TTC. We offer this case as a reminder that cancer should be considered in the differential diagnosis of patients presenting with the etiology of TTC.

  9. Nightmare-Induced Atypical Midventricular Tako-Tsubo Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Veronica Fibbi

    2015-01-01

    Full Text Available Tako-Tsubo cardiomyopathy (TTC is a reversible cardiomyopathy characterized by acute left ventricular segmental dysfunction, whose clinical presentation resembles that of acute myocardial infarction. The syndrome often follows a psychophysical stressful event and is characterized by echocardiographic evidence of akinesia of the left ventricular mid-apical segments. Atypical echocardiographic patterns of TTC have recently been described, often triggered by emotional stressors, rather than physical. In this report, we describe a case of atypical TTC triggered by an unusual stressor (recurrent nightmare in a 45-year-old woman, with peculiar clinical presentation and evolution characterized by persistent loss of consciousness, neurological deterioration, absence of typical symptoms of TTC, and features suggestive of a hysterical crisis.

  10. Nightmare-induced atypical midventricular tako-tsubo cardiomyopathy.

    Science.gov (United States)

    Fibbi, Veronica; Ballo, Piercarlo; Nannini, Marco; Consoli, Lorenzo; Chechi, Tania; Bribani, Andrea; Fiorentino, Francesca; Chiodi, Leandro; Zuppiroli, Alfredo

    2015-01-01

    Tako-Tsubo cardiomyopathy (TTC) is a reversible cardiomyopathy characterized by acute left ventricular segmental dysfunction, whose clinical presentation resembles that of acute myocardial infarction. The syndrome often follows a psychophysical stressful event and is characterized by echocardiographic evidence of akinesia of the left ventricular mid-apical segments. Atypical echocardiographic patterns of TTC have recently been described, often triggered by emotional stressors, rather than physical. In this report, we describe a case of atypical TTC triggered by an unusual stressor (recurrent nightmare) in a 45-year-old woman, with peculiar clinical presentation and evolution characterized by persistent loss of consciousness, neurological deterioration, absence of typical symptoms of TTC, and features suggestive of a hysterical crisis.

  11. Transient stress cardiomyopathies in the elderly: Clinical & Pathophysiologic considerations

    Institute of Scientific and Technical Information of China (English)

    Michael A Chen

    2012-01-01

    Transient stress-induced cardiomyopathies have been increasingly recognized and while rare,they tend to affect elderly women more than other demographic groups.One type,often called tako-tsubo cardiomyopathy (TTC),is typically triggered by significant emotional or physical stress and is associated with chest pain,electrocardiogram (ECG) changes and abnormal cardiac enzymes.Significant left ventricular regional wall motion abnormalities usually include an akinetic "ballooning" apex with normal or hyperdynamic function of the base.A second type,often called neurogenic stunned myocardium,typically associated with subarachnoid hemorrhage,also usually presents with ECG changes and positive enzymes,but the typical wall motion abnormalities seen include normal basal and apical left ventricular contraction with akinesis of the mid-cavity in a circumferential fashion.The pathophysiology,clinical care and typical courses,are reviewed.

  12. 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. PMID:24082380

  13. Hypertrophic cardiomyopathy: Part 1 - Introduction, pathology and pathophysiology

    Directory of Open Access Journals (Sweden)

    Praveen Kerala Varma

    2014-01-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is the most common genetic cardiovascular disease with many genotype and phenotype variations. Earlier terminologies, hypertrophic obstructive cardiomyopathy and idiopathic hypertrophic sub-aortic stenosis are no longer used to describe this entity. Patients present with or without left ventricular outflow tract (LVOT obstruction. Resting or provocative LVOT obstruction occurs in 70% of patients and is the most common cause of heart failure. The pathology and pathophysiology of HCM includes hypertrophy of the left ventricle with or without right ventricular hypertrophy, systolic anterior motion of mitral valve, dynamic and mechanical LVOT obstruction, mitral regurgitation, diastolic dysfunction, myocardial ischemia, and fibrosis. Thorough understanding of pathology and pathophysiology is important for anesthetic and surgical management.

  14. Myocarditis and inflammatory cardiomyopathy: from diagnosis to treatment.

    Science.gov (United States)

    Escher, Felicitas; Tschöepe, Carsten; Lassner, Dirk; Schultheiss, Heinz-Peter

    2015-12-01

    Based on the definition in the European Society of Cardiology statement, myocarditis is an inflammatory disease of the myocardium diagnosed by established histological, immunological, and immunohistochemical criteria, whereas inflammatory cardiomyopathy is myocarditis in association with cardiac dysfunction. Actual incidences of myocarditis and CMi are difficult to determine. Studies addressing the issue of sudden cardiac death in young people report a highly variable autopsy prevalence of myocarditis, ranging from 2-42% of cases. Similarly, biopsy-proven myocarditis has been reported in 9-16% of adult patients with unexplained nonischemic dilated cardiomyopathy (DCM). In up to 30% of cases, biopsy-proven myocarditis can progress to DCM and is associated with a poor prognosis. Prognosis in myocarditis patients also varies according to underlying etiology.

  15. 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)

  16. Cardiac troponin T mutations in Chinese patients with hypertrophic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    吴恒芳; 杨笛; 万文辉; 卞智萍; 徐晋丹; 马文珠; 张寄南

    2004-01-01

    @@ Hypertrophic cardiomyopathy (HCM) is a myocardial disorder characterized by unexplained ventricular hypertrophy and myofibrillar disarray, with a prevalence of about 0.2% in general population. HCM is associated with gene abnormalities. Nearly 200 mutations have been described in ten genes in patients with HCM.1 Cardiac troponin T (cTnT) is an essential component of the troponin complex and plays a central role in the calcium regulation of contractions in cardiac myocytes

  17. Microvascular dysfunction in nonfailing arrhythmogenic right ventricular cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Paul, Matthias [University Hospital Muenster, Department of Cardiology and Angiology, Muenster (Germany); University Hospital Muenster, Institute for Genetics of Heart Diseases, Muenster (Germany); Rahbar, Kambiz; Kies, Peter; Schober, Otmar [University Hospital Muenster, Department of Nuclear Medicine, Muenster (Germany); Gerss, Joachim [University of Muenster, Institute of Biostatistics and Clinical Research, Muenster (Germany); Schaefers, Klaus; Schaefers, Michael [University of Muenster, European Institute for Molecular Imaging - EIMI, Muenster (Germany); Breithardt, Guenter [University Hospital Muenster, Department of Cardiology and Angiology, Muenster (Germany); Schulze-Bahr, Eric [University Hospital Muenster, Institute for Genetics of Heart Diseases, Muenster (Germany); Wichter, Thomas [Marienhospital Osnabrueck, Department of Cardiology, Niels-Stensen-Kliniken, Osnabrueck (Germany)

    2012-03-15

    Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a nonischaemic cardiomyopathy and leading cause of sudden death in the young. It has been shown that microvascular dysfunction reflected by an impaired myocardial blood flow (MBF) response to stress is present in patients with other forms of nonischaemic cardiomyopathy, e.g. dilated cardiomyopathy, and that the reduced MBF may be related to a poor prognosis. Therefore, we quantified MBF, coronary flow reserve and coronary vascular resistance in patients with nonfailing ARVC using H{sub 2}{sup 15} O and PET. In ten male patients with ARVC (mean age 49 {+-} 14 years), MBF was quantified at rest and during adenosine-induced hyperaemia using H{sub 2}{sup 15} O PET. Results were compared with those obtained in 20 age-matched healthy male control subjects (mean age 46 {+-} 14 years). Resting MBF was not significantly different between patients with ARVC and controls (MBF{sub rest} 1.19 {+-} 0.29 vs. 1.12 {+-} 0.20 ml/min/ml). However, hyperaemic MBF was significantly lower in patients with ARVC than in controls (2.60 {+-} 0.96 vs. 3.68 {+-} 0.84 ml/min/ml; p = 0.005). Consequently, patients with ARVC had a significantly lower coronary flow reserve than control subjects (2.41 {+-} 1.34 vs. 3.39 {+-} 0.93; p = 0.030). In addition, hyperaemic coronary vascular resistance was increased in patients with ARVC (36.79 {+-} 12.91 vs. 26.31 {+-} 6.49 mmHg x ml{sup -1} x min x ml; p = 0.007), but was found to be unchanged at rest. In this small well-characterized cohort of patients with nonfailing ARVC, we found a significantly reduced hyperaemic MBF and increased coronary vascular resistance. Further studies are necessary to corroborate this potential new functional aspect of the pathophysiological mechanisms underlying ARVC. (orig.)

  18. 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.

  19. Physiology and Pathophysiology of Iron Cardiomyopathy in Thalassemia

    OpenAIRE

    2005-01-01

    Iron cardiomyopathy remains the leading cause of death in patients with thalassemia major. Magnetic resonance imaging (MRI) is ideally suited for monitoring thalassemia patients because it can detect cardiac and liver iron burdens as well as accurately measure left ventricular dimensions and function. However, patients with thalassemia have unique physiology that alters their normative data. In this article, we review the physiology and pathophysiology of thalassemic heart disease as well as ...

  20. Gemcitabine induced cardiomyopathy: a case of multiple hit cardiotoxicity.

    Science.gov (United States)

    Mohebali, Donya; Matos, Jason; Chang, James Ducksoon

    2017-02-01

    Gemcitabine is a commonly used antineoplastic agent used to treat a variety of cancers with rarely reported cardiac side effects. We describe a case of a 67-year-old woman with follicular lymphoma who experienced a rarely reported side effect of gemcitabine: cardiomyopathy. This case highlights a multiple hit mechanism of myocyte damage that may occur following the use of multiple cardio-toxic agents despite their administration in doses not associated with cardiotoxicity.

  1. 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.)

  2. Stress-echocardiography in idiopathic dilated cardiomyopathy: instructions for use

    Directory of Open Access Journals (Sweden)

    Neskovic Aleksandar N

    2005-02-01

    Full Text Available Abstract A number of studies have suggested that stress-echocardiography may be used for prognostic stratification in patients with idiopathic dilated cardiomyopathy. There is no consensus on which protocol or which measurements of left ventricular contractile reserve to use. The most frequently used protocol is low-dose dobutamine stress-echocardiography, and most commonly used measures of left ventricular systolic performance are ejection fraction, wall motion score index and cardiac power output. Stress-echocardiography has been shown to predict improvement in cardiac function in patients with recently diagnosed dilated cardiomyopathy, as well as to predict which patients will benefit from the treatment with beta-blockers. Most importantly, stress-echocardiography can identify patients with worse prognosis in terms of cardiac death and need for transplantation. Additionally, contractile reserve is closely correlated with maximal oxygen consumption and can even be used for further stratification in patients with maximal oxygen consumption between 10 and 14 ml/kg/min. Future studies are needed for head-to-head comparison of various protocols in an attempt to make standardization in the assessment of patients with dilated cardiomyopathy.

  3. Oxidative stress and stress signaling: menace of diabetic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    Loren E WOLD; Asli F CEYLAN-ISIK; Jun REN

    2005-01-01

    Cardiovascular disease is the most common cause of death in the diabetic population and is currently one of the leading causes of death in the United States and other industrialized countries. The health care expenses associated with cardiovascular disease are staggering, reaching more than US$350 billion in 2003. The risk factors for cardiovascular disease include high fat/cholesterol levels,alcoholism, smoking, genetics, environmental factors and hypertension, which are commonly used to gauge an individual's risk of cardiovascular disease and to track their progress during therapy. Most recently, these factors have become important in the early prevention of cardiovascular diseases. Oxidative stress, the imbalance between reactive oxygen species production and breakdown by endogenous antioxidants, has been implicated in the onset and progression of cardiovascular diseases such as congestive heart failure and diabetes-associated heart dysfunction (diabetic cardiomyopathy). Antioxidant therapy has shown promise in preventing the development of diabetic heart complications. This review focuses on recent advances in oxidative stress theory and antioxidant therapy in diabetic cardiomyopathy, with an emphasis on the stress signaling pathways hypothesized to be involved. Many of these stress signaling pathways lead to activation of reactive oxygen species, major players in the development and progression of diabetic cardiomyopathy.

  4. Modeling GATAD1-Associated Dilated Cardiomyopathy in Adult Zebrafish

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    Jingchun Yang

    2016-01-01

    Full Text Available Animal models have played a critical role in validating human dilated cardiomyopathy (DCM genes, particularly those that implicate novel mechanisms for heart failure. However, the disease phenotype may be delayed due to age-dependent penetrance. For this reason, we generated an adult zebrafish model, which is a simpler vertebrate model with higher throughput than rodents. Specifically, we studied the zebrafish homologue of GATAD1, a recently identified gene for adult-onset autosomal recessive DCM. We showed cardiac expression of gatad1 transcripts, by whole mount in situ hybridization in zebrafish embryos, and demonstrated nuclear and sarcomeric I-band subcellular localization of Gatad1 protein in cardiomyocytes, by injecting a Tol2 plasmid encoding fluorescently-tagged Gatad1. We next generated gatad1 knock-out fish lines by TALEN technology and a transgenic fish line that expresses the human DCM GATAD1-S102P mutation in cardiomyocytes. Under stress conditions, longitudinal studies uncovered heart failure (HF-like phenotypes in stable KO mutants and a tendency toward HF phenotypes in transgenic lines. Based on these efforts of studying a gene-based inherited cardiomyopathy model, we discuss the strengths and bottlenecks of adult zebrafish as a new vertebrate model for assessing candidate cardiomyopathy genes.

  5. Takotsubo cardiomyopathy in two men receiving bevacizumab for metastatic cancer

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    Thérèse H Franco

    2008-10-01

    Full Text Available Thérèse H Franco, Ahmed Khan, Vishal Joshi, Beje ThomasDepartment of Internal Medicine, University of Connecticut, Farmington, CT, USAAbstract: Bevacizumab is a monoclonal antibody that inhibits vascular endothelial growth factor (VEGF. It is a novel chemotherapeutic agent currently approved as part of combination chemotherapy for metastatic colorectal cancer, non-small cell lung cancer, and breast cancer (Hurwitz et al 2004; Sandler et al 2006; Traina et al 2007. Arterial thrombosis, including cerebral infarction, transient ischemic attacks, myocardial infarction, and angina are common, occurring in 4.4% of patients whose regimen includes bevacizumab (versus 1.9% on regimen without bevacizumab (Genetech, Inc. 2008. This series will review two cases of patients exposed to bevacizumab who subsequently developed ST elevations on electrocardiogram (ECG and elevated cardiac biomarkers. Both patients underwent cardiac catheterization, which demonstrated apical ballooning and akinesis in a distribution discordant with the observed (noncritical atherosclerotic lesions. Both patients had recovery of left ventricular function within 30 days. The clinical presentation, including ECGs and findings on catheterization as well as the rapid recovery of ventricular function, is consistent with the diagnosis of takotsubo cardiomyopathy. Takotsubo cardiomyopathy was first described in 1991, but the pathophysiology and exact mechanism of injury remain largely unknown. These two cases are notable for their occurrence in men and the association with treatment of metastatic cancer including bevacizumab.Keywords: vascular endothelial growth factor, bevacizumab, metastatic cancer, chemotherapy, takotsubo, cardiomyopathy

  6. Chagas cardiomyopathy in the context of the chronic disease transition.

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    Alicia I Hidron

    Full Text Available BACKGROUND: Patients with Chagas disease have migrated to cities, where obesity, hypertension and other cardiac risk factors are common. METHODOLOGY/PRINCIPAL FINDINGS: The study included adult patients evaluated by the cardiology service in a public hospital in Santa Cruz, Bolivia. Data included risk factors for T. cruzi infection, medical history, physical examination, electrocardiogram, echocardiogram, and contact 9 months after initial data collection to ascertain mortality. Serology and PCR for Trypanosoma cruzi were performed. Of 394 participants, 251 (64% had confirmed T. cruzi infection by serology. Among seropositive participants, 109 (43% had positive results by conventional PCR; of these, 89 (82% also had positive results by real time PCR. There was a high prevalence of hypertension (64% and overweight (body mass index [BMI] >25; 67%, with no difference by T. cruzi infection status. Nearly 60% of symptomatic congestive heart failure was attributed to Chagas cardiomyopathy; mortality was also higher for seropositive than seronegative patients (p = 0.05. In multivariable models, longer residence in an endemic province, residence in a rural area and poor housing conditions were associated with T. cruzi infection. Male sex, increasing age and poor housing were independent predictors of Chagas cardiomyopathy severity. Males and participants with BMI cardiomyopathy remains an important cause of congestive heart failure in this hospital population, and should be evaluated in the context of the epidemiological transition that has increased risk of obesity, hypertension and chronic cardiovascular disease.

  7. Nesprin-1 mutations in human and murine cardiomyopathy

    Science.gov (United States)

    Puckelwartz, Megan J.; Kessler, Eric J.; Kim, Gene; DeWitt, Megan M.; Zhang, Yuan; Earley, Judy U.; Depreux, Frederic F.S.; Holaska, James; Mewborn, Stephanie K.; Pytel, Peter; McNally, Elizabeth M.

    2009-01-01

    Mutations in LMNA, the gene encoding the nuclear membrane proteins, lamins A and C, produce cardiac and muscle disease. In the heart, these autosomal dominant LMNA mutations lead to cardiomyopathy frequently associated with cardiac conduction system disease. Herein, we describe a patient with the R374H missense variant in nesprin-1α, a protein that binds lamin A/C. This individual developed dilated cardiomyopathy requiring cardiac transplantation. Fibroblasts from this individual had increased expression of nesprin-1α and lamins A and C, indicating changes in the nuclear membrane complex. We characterized mice lacking the carboxy-terminus of nesprin-1 since this model expresses nesprin-1 without its carboxy-terminal KASH domain. These Δ/Δ KASH mice have a normally assembled but dysfunctional nuclear membrane complex and provide a model for nesprin-1 mutations. We found that Δ/Δ KASH mice develop cardiomyopathy with associated cardiac conduction system disease. Older mutant animals were found to have elongated P wave duration, elevated atrial and ventricular effective refractory periods indicating conduction defects in the myocardium, and reduced fractional shortening. Cardiomyocyte nuclei were found to be elongated with reduced heterochromatin in the Δ/Δ KASH hearts. These findings mirror what has been described from lamin A/C gene mutations and reinforce the importance of an intact nuclear membrane complex for a normally functioning heart. PMID:19944109

  8. Premature Ventricular Complexes and Premature Ventricular Complex Induced Cardiomyopathy.

    Science.gov (United States)

    Latchamsetty, Rakesh; Bogun, Frank

    2015-09-01

    Presentation, prognosis, and management of premature ventricular complexes (PVCs) vary significantly among patients and depend on PVC characteristics as well as patient comorbidities. Presentation can range from incidental discovery in an asymptomatic patient to debilitating heart failure. Prognosis depends on, among other factors, the presence or absence of structural heart disease, PVC burden and other factors detailed in this review. Our understanding of the clinical significance of frequent PVCs, particularly as it relates to development of cardiomyopathy, has advanced greatly in the past decade. In this article, we explore the mechanisms governing PVC initiation and discuss prevalence and frequency of PVCs in the general population. We also explore prognostic implications based on PVC frequency as well as the presence or absence of underlying heart disease. We then take a focused look at PVC-induced cardiomyopathy and identify predictors for developing cardiomyopathy. Finally, we discuss clinical evaluation and management of patients presenting with frequent PVCs. Management can include clinical observation, addressing reversible causes, lifestyle modification, pharmacotherapy, or catheter ablation.

  9. Surgical outcomes and strategy of hypertrophic obstructive cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    ZHU Ya-bin; RAJAN S.; KURIAN V.M.; LIU Zhi-yong

    2006-01-01

    Objective: To evaluate the surgical clinical results of hypertrophic obstructive cardiomyopathy. Methods: We retrospectively collected data on 24 patients who underwent surgical management in the past ten years in two hospitals in China and Madras Medical Mission in India. Myomectomy was carried out on all patients. Among them 3 patients underwent mitral valve replacement; 2 patients underwent mitral valve repair (anterior mitral leaflet plication); 2 patients underwent aortic valve replacement; 1 patient underwent aortic valve repair; 2 patients underwent aortic root replacement; 1 patient underwent Bentall's procedure and 1 patient underwent coronary artery bypass grafting because of a breached muscle bridge. Results: One patient died of post-operative heart failure. The mean follow-up time was 4.3 years. There was significant improvement in the symptomatic status. Sixteen patients were asymptomatic with good effort tolerance and only four patients had New York heart association (NYHA) Classes Ⅰ~Ⅱ due to associated valvular lesions. Conclusion: Our experience proved that symptomatic hypertrophic obstructive cardiomyopathy or non-symptomatic hypertrophic obstructive cardiomyopathy with combined heart disease is indication for surgery as surgical intervention could get better clinical results in this kind of patients compared with other non-surgical method because it beneficially reduces the systolic anterior motion (SAM) of the mitral valve leaflet, which could not be avoided by other non-surgical treatment.

  10. Update on Myocarditis and Inflammatory Cardiomyopathy: Reemergence of Endomyocardial Biopsy.

    Science.gov (United States)

    Dominguez, Fernando; Kühl, Uwe; Pieske, Burkert; Garcia-Pavia, Pablo; Tschöpe, Carsten

    2016-02-01

    Myocarditis is defined as an inflammatory disease of the heart muscle and is an important cause of acute heart failure, sudden death, and dilated cardiomyopathy. Viruses account for most cases of myocarditis or inflammatory cardiomyopathy, which could induce an immune response causing inflammation even when the pathogen has been cleared. Other etiologic agents responsible for myocarditis include drugs, toxic substances, or autoimmune conditions. In the last few years, advances in noninvasive techniques such as cardiac magnetic resonance have been very useful in supporting diagnosis of myocarditis, but toxic, infectious-inflammatory, infiltrative, or autoimmune processes occur at a cellular level and only endomyocardial biopsy can establish the nature of the etiological agent. Furthermore, after the generalization of immunohistochemical and viral genome detection techniques, endomyocardial biopsy provides a definitive etiological diagnosis that can lead to specific treatments such as antiviral or immunosuppressive therapy. Endomyocardial biopsy is not commonly performed for the diagnosis of myocarditis due to safety reasons, but both right- and left endomyocardial biopsies have very low complication rates when performed by experienced operators. This document provides a state-of-the-art review of myocarditis and inflammatory cardiomyopathy, with special focus on the role of endomyocardial biopsy to establish specific treatments.

  11. 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.

  12. Neonatal cardiomyopathies and metabolic crises due to oxidative phosphorylation defects.

    Science.gov (United States)

    Schiff, Manuel; Ogier de Baulny, Hélène; Lombès, Anne

    2011-08-01

    Neonatal cardiomyopathies due to mitochondrial oxidative phosphorylation (OXPHOS) defects are extremely severe conditions which can be either isolated or included in a multi-organ disease, with or without metabolic crises, of which profound lactic acidosis is the prominent feature. Cardiomyopathy is more often hypertrophic than dilated. Antenatal manifestations such as fetal cardiomyopathy, arrhythmia and/or hydrops have been reported. Pathophysiological mechanisms are complex, going beyond ATP deficiency of the high-energy-consuming neonatal myocardium. Birth is a key metabolic period when the myocardium switches ATP production from anaerobic glycolysis to mitochondrial fatty acid oxidation and OXPHOS. Heart-specificity of the defect may be related to the specific localization of the defect, to the high myocardium dependency on OXPHOS, and/or to interaction between the primary genetic alteration and other factors such as modifier genes. Therapeutic options are limited but standardized diagnostic procedures are mandatory to confirm the OXPHOS defect and to identify its causal mutation, allowing genetic counseling and potential prenatal diagnosis.

  13. Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I

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    Habib Philip

    2011-08-01

    Full Text Available Abstract Background Limb girdle muscular dystrophies (LGMD are inclusive of 7 autosomal dominant and 14 autosomal recessive disorders featuring progressive muscle weakness and atrophy. Studies of cardiac function have not yet been well-defined in deficiencies of dysferlin (LGMD2B and fukutin related protein (LGMD2I. In this study of patients with these two forms of limb girdle muscular dystrophy, cardiovascular magnetic resonance (CMR was used to more specifically define markers of cardiomyopathy including systolic dysfunction, myocardial fibrosis, and diastolic dysfunction. Methods Consecutive patients with genetically-proven LGMD types 2I (n = 7 and 2B (n = 9 and 8 control subjects were enrolled. All subjects underwent cardiac magnetic resonance (CMR on a standard 1.5 Tesla clinical scanner with cine imaging for left ventricular (LV volume and ejection fraction (EF measurement, vector velocity analysis of cine data to calculate myocardial strain, and late post-gadolinium enhancement imaging (LGE to assess for myocardial fibrosis. Results Sixteen LGMD patients (7 LGMD2I, 9 LGMD2B, and 8 control subjects completed CMR. All but one patient had normal LV size and systolic function; one (type 2I had severe dilated cardiomyopathy. Of 15 LGMD patients with normal systolic function, LGE imaging revealed focal myocardial fibrosis in 7 (47%. Peak systolic circumferential strain rates were similar in patients vs. controls: εendo was -23.8 ± 8.5vs. -23.9 ± 4.2%, εepi was -11.5 ± 1.7% vs. -10.1 ± 4.2% (p = NS for all. Five of 7 LGE-positive patients had grade I diastolic dysfunction [2I (n = 2, 2B (n = 3]. that was not present in any LGE-negative patients or controls. Conclusions LGMD2I and LGMD2B generally result in mild structural and functional cardiac abnormalities, though severe dilated cardiomyopathy may occur. Long-term studies are warranted to evaluate the prognostic significance of subclinical fibrosis detected by CMR in these patients.

  14. Hypothyroidism - A cause for dilated cardiomyopathy in dogs; four year study (2008-2011

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    Satish Kumar Karlapudi

    Full Text Available Aim: The study was carried out to understand the thyroid dysfunction and its association with dilated cardiomyopathy in dogs. Materials and Methods: The study was done at Teaching Veterinary Hospital, Bhoiguda, College of Veterinary Science, Hyderabad for four years, i.e., from 2008 to 2011. A total of 256 dogs of various breed, age and sex were presented with typical skin and coat abnormalities. Few were also exhibiting signs of low metabolic rate. Skin sample analysis was done to rule out the causes of dermatitis. Thyroid profile was estimated to diagnose hypothyroidism. Selected cases were also subjected for echocardiography to study the association of cardiomyopathy. Based on thyroid profile, hypothyroid dogs were treated with levothyroxine @20mcg/kg wt, once daily, orally on empty stomach and dilated cardiomyopathy (DCM associated patients were additionally supplemented with enalapril @0.5 mg/kg, twice daily, orally for 6 months. The hemato biochemical and echocardiographic aspects are discussed. Results: The classical signs that were recorded in almost all the thyroid dysfunction dogs (231 were bilateral alopecia, rat tail and pigmentation and whereas, dyspnoea at rest, exercise intolerance, obesity, pale mucosae and corneal lipidosis were the significant low metabolic rate signs noticed in 42 dogs. However, syncope and seizures were also recorded in 31 of these hypothyroid dogs. Echocardiographic evaluation revealed significantly (P<0.01 increased LVEDd and LVEDs along with decreased IVS and LVPW both at systole and diastole among 33 dogs. Normocytic, normochromic and non-regenerative anemia and significantly (P<0.05 low T3, fT4, tT4 along with elevated serum cholesterol, triglycerides, TSH, CKMB, LDH and ALP were the hemato – biochemical findings among these dogs. After the initiation of therapy, improvement in clinical signs was noticed from day 7 and complete clinical recovery by the end of therapy. However, a non significant

  15. Cardiac-specific deletion of the microtubule-binding protein CENP-F causes dilated cardiomyopathy

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    Ellen Dees

    2012-07-01

    CENP-F is a large multifunctional protein with demonstrated regulatory roles in cell proliferation, vesicular transport and cell shape through its association with the microtubule (MT network. Until now, analysis of CENP-F has been limited to in vitro analysis. Here, using a Cre-loxP system, we report the in vivo disruption of CENP-F gene function in murine cardiomyocytes, a cell type displaying high levels of CENP-F expression. Loss of CENP-F function in developing myocytes leads to decreased cell division, blunting of trabeculation and an initially smaller, thin-walled heart. Still, embryos are born at predicted mendelian ratios on an outbred background. After birth, hearts lacking CENP-F display disruption of their intercalated discs and loss of MT integrity particularly at the costamere; these two structures are essential for cell coupling/electrical conduction and force transduction in the heart. Inhibition of myocyte proliferation and cell coupling as well as loss of MT maintenance is consistent with previous reports of generalized CENP-F function in isolated cells. One hundred percent of these animals develop progressive dilated cardiomyopathy with heart block and scarring, and there is a 20% mortality rate. Importantly, although it has long been postulated that the MT cytoskeleton plays a role in the development of heart disease, this study is the first to reveal a direct genetic link between disruption of this network and cardiomyopathy. Finally, this study has broad implications for development and disease because CENP-F loss of function affects a diverse array of cell-type-specific activities in other organs.

  16. Therapeutic inhibition of mitochondrial reactive oxygen species with mito-TEMPO reduces diabetic cardiomyopathy

    Science.gov (United States)

    Ni, Rui; Cao, Ting; Xiong, Sidong; Ma, Jian; Fan, Guo-Chang; Lacefield, James C.; Lu, Yanrong; Le Tissier, Sydney; Peng, Tianqing

    2016-01-01

    Aims The mitochondria are important sources of reactive oxygen species (ROS) in the heart. Mitochondrial ROS production has been implicated in the pathogenesis of diabetic cardiomyopathy, suggesting that therapeutic strategies specifically targeting mitochondrial ROS may have benefit in this disease. We investigated the therapeutic effects of mitochondria-targeted antioxidant mito-TEMPO on diabetic cardiomyopathy. Methods The mitochondria-targeted antioxidant mito-TEMPO was administrated after diabetes onset in a mouse model of streptozotocin-induced type-1 diabetes and type-2 diabetic db/db mice. Cardiac adverse changes were analyzed and myocardial function assessed. Cultured adult cardiomyocytes were stimulated with high glucose, and mitochondrial superoxide generation and cell death were measured. Results Incubation with high glucose increased mitochondria superoxide generation in cultured cardiomyocytes, which was prevented by mito-TEMPO. Co-incubation with mito-TEMPO abrogated high glucose-induced cell death. Mitochondrial ROS generation, and intracellular oxidative stress levels were induced in both type-1 and type-2 diabetic mouse hearts. Daily injection of mito-TEMPO for 30 days inhibited mitochondrial ROS generation, prevented intracellular oxidative stress levels, decreased apoptosis and reduced myocardial hypertrophy in diabetic hearts, leading to improvement of myocardial function in both type-1 and type-2 diabetic mice. Incubation with mito-TEMPO or inhibition of Nox2-containing NADPH oxidase prevented oxidative stress levels and cell death in high glucose-stimulated cardiomyocytes. Mechanistic study revealed that the protective effects of mito-TEMPO were associated with down-regulation of ERK1/2 phosphorylation. Conclusions Therapeutic inhibition of mitochondrial ROS by mito-TEMPO reduced adverse cardiac changes and mitigated myocardial dysfunction in diabetic mice. Thus, mitochondria-targeted antioxidants may be an effective therapy for diabetic

  17. Nuclear cardiologic study of Takotsubo cardiomyopathy; Explorations cardiologiques nucleaires dans la cardiomyopathie de Takotsubo

    Energy Technology Data Exchange (ETDEWEB)

    Cimarelli, S.; Imperiale, A.; Ben Sellem, D.; Goetz, Ch.; Blondet, C.; Constantinesco, A. [Hopital de Hautepierre, Service de Biophysique et Medecine Nucleaire, 67 - Strasbourg (France); Sauer, F.; Morel, O.; Ohlmann, P. [Federation de Cardiologie, Hopitaux Universitaires, 67 - Strasbourg (France)

    2008-02-15

    Transient left ventricular apical ballooning syndrome, also known as Takotsubo cardiomyopathy (T.T.C.) was described for the first time in Japan in the earliest nineties. It represents 1 to 2 % of acute cardiac events and mimics closely acute myocardial infarction. The aim of this study was to investigate 99 mTc- tetrofosmine or {sup 201}Thallium myocardial Single Photon Emission Computed Tomography (SPECT), {sup 123}I-meta-iodo-benzyl-guanidine ({sup 123}I-mibg) myocardial SPECT and myocardial Positron Emission Tomography using {sup 18}F-fluorodeoxyglucose ({sup 18}F-FDG) in patients with T.T.C., assessing respectively left ventricular perfusion, innervation and metabolism. We studied four patients (three females) with T.T.C.. We performed two weeks after acute phase (subacute phase) myocardial perfusion SPECT and {sup 123}I-mibg myocardial SPECT for each patient. Two of them underwent myocardial PET with FDG. Then, we assessed left ventricular innervation and metabolism three months (chronic phase I) and more than six months (chronic phase II) after the acute phase. We compared the discrepancies between radionuclides uptake in the left ventricular apical region during a follow-up period of more than six months. In subacute phase, perfusion SPECT was normal for each patient. Conversely, {sup 123}I-mibg SPECT and FDG-PET showed concordant apical uptake defect. This perfusion-metabolism pattern called 'inverse flow-metabolism mismatch' is the metabolic state of stunned myocardium. After three months, we found improvement of apical tracer uptake in both FDG-PET and {sup 123}I-mibg SPECT. These findings suggest that T.T.C. is characterized by myocardial apical stunning which is related to a disturbance of cardiac sympathetic innervation. {sup 123}I-mibg SPECT might be useful to diagnose earlier this pathology and to rule out acute myocardial infarction. (authors)

  18. Marked left ventricular hypertrophy mimicking hypertrophic cardiomyopathy associated with steroid therapy for congenital adrenal hyperplasia.

    Science.gov (United States)

    Scirè, Giuseppe; D'Anella, Giorgio; Cristofori, Laura; Mazzuca, Valentina; Cianfarani, Stefano

    2007-06-01

    We describe a child treated with high-dose steroid therapy for congenital adrenal hyperplasia who showed marked left ventricular hypertrophy mimicking hypertrophic cardiomyopathy associated with steroid therapy for congenital adrenal hyperplasia. Cardiomyopathy reversed completely when an appropriate steroid therapeutic regimen was established.

  19. 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;

    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...

  20. Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins.

    Science.gov (United States)

    Bang, Marie-Louise

    2017-01-01

    The cardiac Z-line at the boundary between sarcomeres is a multiprotein complex connecting the contractile apparatus with the cytoskeleton and the extracellular matrix. The Z-line is important for efficient force generation and transmission as well as the maintenance of structural stability and integrity. Furthermore, it is a nodal point for intracellular signaling, in particular mechanosensing and mechanotransduction. Mutations in various genes encoding Z-line proteins have been associated with different cardiomyopathies, including dilated cardiomyopathy, hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, restrictive cardiomyopathy, and left ventricular noncompaction, and mutations even within the same gene can cause widely different pathologies. Animal models have contributed to a great advancement in the understanding of the physiological function of Z-line proteins and the pathways leading from mutations in Z-line proteins to cardiomyopathy, although genotype-phenotype prediction remains a great challenge. This review presents an overview of the currently available animal models for Z-line and Z-line associated proteins involved in human cardiomyopathies with special emphasis on knock-in and transgenic mouse models recapitulating the clinical phenotypes of human cardiomyopathy patients carrying mutations in Z-line proteins. Pros and cons of mouse models will be discussed and a future outlook will be given. J. Cell. Physiol. 232: 38-52, 2017. © 2016 Wiley Periodicals, Inc.

  1. Reversal of premature ventricular complex-induced cardiomyopathy following successful radiofrequency catheter ablation.

    Science.gov (United States)

    Efremidis, Michalis; Letsas, Konstantinos P; Sideris, Antonios; Kardaras, Fotios

    2008-06-01

    Premature ventricular complex (PVC)-induced cardiomyopathy is an underappreciated cause of left-ventricular (LV) dysfunction. The present report describes the case of an elderly man with a very high burden of monomorphic PVCs and LV dysfunction. Elimination of the left ventricular focus following radiofrequency catheter ablation resulted in reversal of cardiomyopathy.

  2. Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy

    DEFF Research Database (Denmark)

    Rai, Taranjit Singh; Ahmad, Shamim; Ahluwalia, Tarun Veer Singh

    2009-01-01

    Both idiopathic restrictive cardiomyopathy (IRCM) and hypertrophic cardiomyopathy (HCM) are part of the same disease spectrum and are due to sarcomeric gene mutations. A patient with restrictive physiology without left ventricular hypertrophy (LVH) would be diagnosed as IRCM, while one with LVH...

  3. Molecular pathogenetic mechanisms and new therapeutic perspectives in anthracycline-induced cardiomyopathy

    OpenAIRE

    Distefano Giuseppe

    2009-01-01

    Abstract Anthracyclines are among the most powerful drugs for the treatment of oncologic diseases both in childhood and in adulthood. Nevertheless, their major antineoplastic efficacy can be seriously impaired by collateral toxic cardiac effects causing cardiomyopathy with chronic heart failure that is refractory to conventional medical therapy. This article reports possible subcellular molecular alterations of anthracycline-induced cardiomyopathy (reactive oxygen species formation, apoptosis...

  4. Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada

    KAUST Repository

    Haywood, Annika

    2012-11-15

    AimsAutosomal dominant arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) (in the group of arrhythmogenic cardiomyopathies) is a common cause of sudden cardiac death in young adults. It is both clinically and genetically heterogeneous, with 12 loci (ARVC/D1-12) and eight genes identified, the majority of which encode structural proteins of cardiac desmosomes. The most recent gene identified, TMEM43, causes disease due to a missense mutation in a non-desmosomal gene (p.S358L) in 15 extended families from Newfoundland, Canada. To determine whether mutations in TMEM43 cause ARVC/D and arrhythmogenic cardiomyopathy in other populations, we fully re-sequenced TMEM43 on 143 ARVC/D probands (families) from the UK and 55 probands (from 55 families) from Newfoundland.Methods and resultsBidirectional sequencing of TMEM43 including intron-exon boundaries revealed 33 variants, the majority located in non-coding regions of TMEM43. For the purpose of validation, families of probands with rare, potentially deleterious coding variants were subjected to clinical and molecular follow-up. Three missense variants of uncertain significance (p.R28W, p.E142K, p.R312W) were located in highly conserved regions of the TMEM43 protein. One variant (p.R312W) also co-segregated with relatives showing clinical signs of disease. Genotyping and expansion of the disease-associated haplotype in subjects with the p.R312W variant from Newfoundland, Canada, and the UK suggest common ancestry.ConclusionAlthough the p.R312W variant was found in controls (3/378), identification of an ancestral disease p R312W haplotype suggests that the p.R312W variant is a pathogenic founder mutation. © 2012 The Author.

  5. Cardiac sarcoidosis mimicking hypertrophic cardiomyopathy: clinical utility of radionuclide imaging for differential diagnosis.

    Science.gov (United States)

    Yazaki, Y; Isobe, M; Hayasaka, M; Tanaka, M; Fujii, T; Sekiguchi, M

    1998-06-01

    A 62-year-old woman with skin sarcoidosis was admitted to our hospital to ascertain whether she had cardiac involvement. Although she displayed no cardiac signs or symptoms, the electrocardiogram showed first-degree atrioventricular block, right bundle branch block with left anterior fascicular block, and giant negative T waves in the V3 lead. Echocardiography revealed marked hypertrophy localized in the basal portion of the interventricular septum (IVS) without systolic dysfunction, mimicking hypertrophic cardiomyopathy (HCM). Exercise thallium-201 myocardial imaging revealed redistribution in the anteroseptal region. Both gallium-67 (67Ga) and technetium-99m pyrophosphate (99mTc-PYP) scintigraphy revealed abnormal uptake in the myocardium. These findings disappeared after 2 months of steroid treatment. Reports of cardiac sarcoidosis mimicking HCM are rare. However, hypertrophy in the basal portion of the IVS is an important sign of early cardiac involvement in sarcoidosis. 67Ga and 99mTc-PYP scintigraphy were useful and necessary to differentiate this type of cardiac sarcoidosis from HCM.

  6. An Upgrade on the Rabbit Model of Anthracycline-Induced Cardiomyopathy: Shorter Protocol, Reduced Mortality, and Higher Incidence of Overt Dilated Cardiomyopathy.

    Science.gov (United States)

    Talavera, Jesús; Giraldo, Alejandro; Fernández-Del-Palacio, María Josefa; García-Nicolás, Obdulio; Seva, Juan; Brooks, Gavin; Moraleda, Jose M

    2015-01-01

    Current protocols of anthracycline-induced cardiomyopathy in rabbits present with high premature mortality and nephrotoxicity, thus rendering them unsuitable for studies requiring long-term functional evaluation of myocardial function (e.g., stem cell therapy). We compared two previously described protocols to an in-house developed protocol in three groups: Group DOX2 received doxorubicin 2 mg/kg/week (8 weeks); Group DAU3 received daunorubicin 3 mg/kg/week (10 weeks); and Group DAU4 received daunorubicin 4 mg/kg/week (6 weeks). A cohort of rabbits received saline (control). Results of blood tests, cardiac troponin I, echocardiography, and histopathology were analysed. Whilst DOX2 and DAU3 rabbits showed high premature mortality (50% and 33%, resp.), DAU4 rabbits showed 7.6% premature mortality. None of DOX2 rabbits developed overt dilated cardiomyopathy; 66% of DAU3 rabbits developed overt dilated cardiomyopathy and quickly progressed to severe congestive heart failure. Interestingly, 92% of DAU4 rabbits showed overt dilated cardiomyopathy and 67% developed congestive heart failure exhibiting stable disease. DOX2 and DAU3 rabbits showed alterations of renal function, with DAU3 also exhibiting hepatic function compromise. Thus, a shortened protocol of anthracycline-induced cardiomyopathy as in DAU4 group results in high incidence of overt dilated cardiomyopathy, which insidiously progressed to congestive heart failure, associated to reduced systemic compromise and very low premature mortality.

  7. An Upgrade on the Rabbit Model of Anthracycline-Induced Cardiomyopathy: Shorter Protocol, Reduced Mortality, and Higher Incidence of Overt Dilated Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Jesús Talavera

    2015-01-01

    Full Text Available Current protocols of anthracycline-induced cardiomyopathy in rabbits present with high premature mortality and nephrotoxicity, thus rendering them unsuitable for studies requiring long-term functional evaluation of myocardial function (e.g., stem cell therapy. We compared two previously described protocols to an in-house developed protocol in three groups: Group DOX2 received doxorubicin 2 mg/kg/week (8 weeks; Group DAU3 received daunorubicin 3 mg/kg/week (10 weeks; and Group DAU4 received daunorubicin 4 mg/kg/week (6 weeks. A cohort of rabbits received saline (control. Results of blood tests, cardiac troponin I, echocardiography, and histopathology were analysed. Whilst DOX2 and DAU3 rabbits showed high premature mortality (50% and 33%, resp., DAU4 rabbits showed 7.6% premature mortality. None of DOX2 rabbits developed overt dilated cardiomyopathy; 66% of DAU3 rabbits developed overt dilated cardiomyopathy and quickly progressed to severe congestive heart failure. Interestingly, 92% of DAU4 rabbits showed overt dilated cardiomyopathy and 67% developed congestive heart failure exhibiting stable disease. DOX2 and DAU3 rabbits showed alterations of renal function, with DAU3 also exhibiting hepatic function compromise. Thus, a shortened protocol of anthracycline-induced cardiomyopathy as in DAU4 group results in high incidence of overt dilated cardiomyopathy, which insidiously progressed to congestive heart failure, associated to reduced systemic compromise and very low premature mortality.

  8. Dobutamine stress echocardiographyin distinguishing ischemic from nonischemic dilated cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Miloradović Vladimir

    2005-01-01

    Full Text Available Introduction The aim of this study was to evaluate the diagnostic accuracy of dobutamine stress echocardiography for detection of coronary artery disease in patients with dilated cardiomyopathy. Detection of regional wall motion abnormalities at rest does not reliably distinguish ischemic from nonischemic cardiomyopathy. Material and methods To distinguish between ischemic and nonischemic dilated cardiomyopathy (DCM, we studied 50 patients with left ventricular dysfunction (20 ischemic and 30 nonischemic, detected by coronary angiography using dobutamine stress echocardiography. Echocardiographic images were obtained at baseline, low and paek dose of dobutamine. Rest and stress left ventricular wall motion scores were derived from analysis of regional wall motion. Results Dobutamine infusion was terminated after achievement of the target heart rate or maximal protocol dose in 16 (80% patients with ischemic heart disease and in 23 (73.3% patients with nonischemic heart disease. At rest, there were more normal segments (p<0.001 and a trend toward more akinetic segments (p, not significant per ischemic than per nonischemic DCM patients. However, either at rest or with low-dose dobutamine, individual data largely overlapped. At peak dose, in ischemic DCM, regional contraction worsened in many normal or dyssinergic regions at rest (in some cases after inprovement with low-dose dobutamine; in contrast, in nonischemic DCM, further mild impovement was observed in a variable number of left ventricular areas. Thus, with peak-dose dobutamine, more akinetic and less normal segments were present per ishemic than per nonischemic DCM patient (both, p<0.001. A value of six or more akinetic segments was 90% sensitive and 98% specific for ischemic DCM. Conclusions Our data show that analysis of regional contraction by dobutamine stress echocardiography can distinguish between.

  9. Chagas Cardiomyopathy in the Context of the Chronic Disease Transition

    Science.gov (United States)

    Hidron, Alicia I.; Gilman, Robert H.; Justiniano, Juan; Blackstock, Anna J.; LaFuente, Carlos; Selum, Walter; Calderon, Martiza; Verastegui, Manuela; Ferrufino, Lisbeth; Valencia, Eduardo; Tornheim, Jeffrey A.; O'Neal, Seth; Comer, Robert; Galdos-Cardenas, Gerson; Bern, Caryn

    2010-01-01

    Background Patients with Chagas disease have migrated to cities, where obesity, hypertension and other cardiac risk factors are common. Methodology/Principal Findings The study included adult patients evaluated by the cardiology service in a public hospital in Santa Cruz, Bolivia. Data included risk factors for T. cruzi infection, medical history, physical examination, electrocardiogram, echocardiogram, and contact 9 months after initial data collection to ascertain mortality. Serology and PCR for Trypanosoma cruzi were performed. Of 394 participants, 251 (64%) had confirmed T. cruzi infection by serology. Among seropositive participants, 109 (43%) had positive results by conventional PCR; of these, 89 (82%) also had positive results by real time PCR. There was a high prevalence of hypertension (64%) and overweight (body mass index [BMI] >25; 67%), with no difference by T. cruzi infection status. Nearly 60% of symptomatic congestive heart failure was attributed to Chagas cardiomyopathy; mortality was also higher for seropositive than seronegative patients (p = 0.05). In multivariable models, longer residence in an endemic province, residence in a rural area and poor housing conditions were associated with T. cruzi infection. Male sex, increasing age and poor housing were independent predictors of Chagas cardiomyopathy severity. Males and participants with BMI ≤25 had significantly higher likelihood of positive PCR results compared to females or overweight participants. Conclusions Chagas cardiomyopathy remains an important cause of congestive heart failure in this hospital population, and should be evaluated in the context of the epidemiological transition that has increased risk of obesity, hypertension and chronic cardiovascular disease. PMID:20502520

  10. Riboflavin alleviates cardiac failure in Type I diabetic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Xue Zhao

    2011-09-01

    Full Text Available Heart failure (HF is a common and serious comorbidity of diabetes. Oxidative stress has been associated with the pathogenesis of chronic diabetic complications including cardiomyopathy. The ability of antioxidants to inhibit injury has raised the possibility of new therapeutic treatment for diabetic heart diseases. Riboflavin constitutes an essential nutrient for humans and animals and it is an important food additive. Riboflavin, a precursor of flavin mononucleotide (FMN and flavin adenine dinucleotide (FAD, enhances the oxidative folding and subsequent secretion of proteins. The objective of this study was to investigate the cardioprotective effect of riboflavin in diabetic rats. Diabetes was induced in 30 rats by a single injection of streptozotocin (STZ (70 mg /kg. Riboflavin (20 mg/kg was orally administered to animals immediately after induction of diabetes and was continued for eight weeks. Rats were examined for diabetic cardiomyopathy by left ventricular (LV remadynamic function. Myocardial oxidative stress was assessed by measuring the activity of superoxide dismutase (SOD, the level of malondialdehyde (MDA as well as heme oxygenase-1 (HO-1 protein level. Myocardial connective tissue growth factor (CTGF level was measured by Western blot in all rats at the end of the study. In the untreated diabetic rats, left ventricular systolic pressure (LVSP rate of pressure rose (+dp/dt, and rate of pressure decay (−dp/dt were depressed while left ventricular enddiastolic pressure (LVEDP was increased, which indicated the reduced left ventricular contractility and slowing of left ventricular relaxation. The level of SOD decreased, CTGF and HO-1 protein expression and MDA content rose. Riboflavin treatment significantly improved left ventricular systolic and diastolic function in diabetic rats, there were persistent increases in significant activation of SOD and the level of HO-1 protein, and a decrease in the level of CTGF. These results suggest

  11. Takotsubo cardiomyopathy in a 90-year-old Chinese man

    Institute of Scientific and Technical Information of China (English)

    XU Rong-he; HUANG Jian-qiang; YU Dan-qing; MA Gui-zhou; CAI Zhi-xiong; NI Chu-min; CHEN Ping; ZHU Zhi-dan; LUO Yan-hua; ZHU Guo-hong

    2012-01-01

    A 90-year-old Chinese man was transferred to the Emergency Department of the Affiliated Shantou Hospital of Sun Yat-sen University for treatment of an acute myocardial infarction.He suffered chest pain with three days of cough,dyspnea and fever.A diagnosis of Takotsubo cardiomyopathy was made in normal coronary arteries from urgent coronary angiography and characteristic apical dyskinesis and basal hyper contractility in left ventriculography.The patient died from severe multi-organ failure on the second day of hospitalization.

  12. Stroke and dilated cardiomyopathy associated with celiac disease

    Institute of Scientific and Technical Information of China (English)

    Murat; Dogan; Erdal; Peker; Eren; Cagan; Sinan; Akbayram; Mehmet; Acikgoz; Huseyin; Caksen; Abdurrahman; Uner; Yasar; Cesur

    2010-01-01

    Celiac disease(CD) is manifested by a variety of clinical signs and symptoms that may begin either in childhood or adult life.Neurological symptoms without signs of malabsorption have been observed for a long time in CD.In this report,an 8-year-old girl with CD presented with rarely seen dilated cardiomyopathy and stroke.The girl was admitted with left side weakness.Her medical history indicated abdominal distention,chronic diarrhea,failure to thrive,and geophagia.On physical examination,short stature,pale ...

  13. A Family History of Dilated Cardiomyopathy Induced by Viral Myocarditis

    Directory of Open Access Journals (Sweden)

    Thomas Cognet

    2012-01-01

    Full Text Available Myocarditis can lead to acute heart failure, cardiogenic shock, or sudden death and later, dilated cardiomyopathy (DCM with chronic heart failure. We report the cases of two DCM induced by acute and past myocarditis in the same family and expressed by its two main complications within few weeks: an hemodynamic presentation as a fulminant myocarditis rapidly leading to cardiac tranplantation and a rythmologic presentation as an electrical storm leading to catheter ablation of ventricular tachycardia. These cases ask the question of the family predisposition to viral myocarditis leading to DCM.

  14. Amyloidotic cardiomyopathy: multidisciplinary approach to diagnosis and treatment.

    Science.gov (United States)

    Seldin, David C; Berk, John L; Sam, Flora; Sanchorawala, Vaishali

    2011-07-01

    Amyloidotic cardiomyopathy (ACMP) occurs in the setting of rare genetic diseases, blood dyscrasias, chronic infection and inflammation, and advanced age. Cardiologists are on the front lines of diagnosis of ACMP when evaluating patients with unexplained dyspnea, congestive heart failure, or arrhythmias. Noninvasive detection of diastolic cardiac dysfunction and unexplained left ventricular hypertrophy should be followed by biopsy to demonstrate the presence of amyloid deposits and appropriate genetic, biochemical, and immunologic testing to accurately define the type of amyloid. Growing numbers of treatment options exist for these diseases, and timely diagnosis and institution of therapy is essential for preservation of cardiac function.

  15. Dilated cardiomyopathy as part of familial dystrophia myotonica

    DEFF Research Database (Denmark)

    Gadgaard, Tenna; Eiskjær, Hans; Jensen, Peter Kjestrup Axel;

    2014-01-01

    Dilated cardiomyopathy (DCM) is a condition characterized by non-ischaemic heart failure and is often hereditary. We present a family in which the proband had DCM in isolation while several relatives presented with myotonia, hypotonia, poly-hydramnion during pregnancy or a mental handicap....... The disease presentation and subsequent genetic investigations were consistent with a diagnosis of dystrophia myotonica. This case presentation illustrate that DCM may be part of a systemic condition and that familial investigations may have important implications for correct diagnosis, treatment...... and counseling....

  16. 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

    The gene family KCNE1-5, which encode modulating β-subunits of several repolarising K+-ion channels, has been associated with genetic cardiac diseases such as long QT syndrome, atrial fibrillation and Brugada syndrome. The minK peptide, encoded by KCNE1, is attached to the Z-disc of the sarcomere...... 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...

  17. Recent progress in end-stage hypertrophic cardiomyopathy.

    Science.gov (United States)

    Xiao, Yan; Yang, Kun-Qi; Jiang, Yong; Zhou, Xian-Liang

    2015-05-01

    Within the diverse spectrum of hypertrophic cardiomyopathy (HCM), a unique subgroup characterized by left ventricular enlargement and systolic dysfunction has emerged (defined as end-stage HCM [ES-HCM]). This underestimated entity provides challenging treatment strategies for extremely high risk of refractory heart failure and sudden cardiac death. Over the last 2 decades, the clinical features of ES-HCM have expanded and the underlying mechanisms gradually elucidated. Moreover, there is increasing evidence for early recognition of ES-HCM. New insights into early prevention and management will improve the clinical outcomes of this entity.

  18. 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.

  19. The Efficacy of L-Carnitine Treatment in Dilated Cardiomyopathy

    OpenAIRE

    DÖNDER, Emir

    1998-01-01

    This study was carried out to investigate clinical effects of treatment with the supplementation of L-carnitine in cases with dilated cardiomyopathy. B Mode, M-Mode, and continuous Doppler echocardiograms were applied with standard techniques in totally 28 patients assessed before treatment with L-carnitine and at the 1 st , 5 th , 10 th , 30 th , and 60 th days of the treatment. The diameter of the left ventricular endsystolic and end-diastolic have decreased with L-carnitine tre...

  20. Age-associated cardiomyopathy in heterozygous carrier mice of a pathological mutation of carnitine transporter gene, OCTN2.

    Science.gov (United States)

    Xiaofei, E; Wada, Yasuhiko; Dakeishi, Miwako; Hirasawa, Fujiko; Murata, Katsuyuki; Masuda, Hirotake; Sugiyama, Toshihiro; Nikaido, Hiroko; Koizumi, Akio

    2002-07-01

    The purpose of this study was to test whether heterozygotes of juvenile visceral steatosis mice, a model for systemic carnitine deficiency, may develop age-associated cardiomyopathy. Tissue morphological observations were carried out by light and electron microscopy to compare the heterozygous and age-matched control mice at periods of 1 and 2 years. Possible effects of the pathological mutation on lipid and glucose levels was also evaluated in humans and mice. Except mild increases in serum cholesterol levels in male heterozygous mice and humans, no changes were found in other factors, indicating that none of the confounding factors seems to be profound. Results demonstrated that heterozygous mice had larger left ventriclular myocyte diameters than the control mice. Morphological changes in cardiac muscles by electron microscopy revealed age-associated changes of lipid deposition and abnormal mitochondria in heterozygous mice. Two out of 60 heterozygous cohort and one out of nine heterozygous trim-kill mice had cardiac hypertrophy at ages older than 2 years. The present study and our previous work suggest that the carrier state of OCTN2 pathological mutations might be a risk factor for age-associated cardiomyopathy.

  1. Pheochromocytoma-Induced Inverted Takotsubo-Like Cardiomyopathy Leading to Cardiogenic Shock Successfully Treated With Extracorporeal Membrane Oxygenation.

    Science.gov (United States)

    Flam, Benjamin; Broomé, Michael; Frenckner, Björn; Bränström, Robert; Bell, Max

    2015-09-01

    Pheochromocytoma classically displays a variety of rather benign symptoms, such as headache, palpitations, and sweating, although severe cardiac manifestations have been described. We report a case of pheochromocytoma-induced inverted takotsubo-like cardiomyopathy leading to shock and cardiac arrest successfully treated with extracorporeal membrane oxygenation (ECMO) as a bridge to pharmacological therapy and curative adrenalectomy. A previously healthy 46-year-old woman presented to the emergency department with abdominal pain, dyspnea, nausea, and vomiting. Clinical evaluation revealed cardiorespiratory failure with hypoxia and severe metabolic acidosis. Computed tomography (CT) scan showed pulmonary edema and a left adrenal mass. Transthoracic echocardiography (TTE) displayed severe left ventricular dysfunction with inverted takotsubo contractile pattern. Despite mechanical ventilation and inotropic and vasopressor support, asystolic cardiac arrest ensued. The patient was resuscitated using manual chest compressions followed by venoarterial ECMO. Repeated TTEs demonstrated resolution of the cardiomyopathy within a few days. Laboratory results indicated transient renal and hepatic dysfunction, and CT scan of the brain displayed occipital infarctions. Biochemical testing and radionuclide scintigraphy confirmed a pheochromocytoma. Pharmacological adrenergic blockade was instituted prior to delayed adrenalectomy after which the diagnosis was histopathologically verified. The patient recovered after rehabilitation. We conclude that pheochromocytoma should be considered in patients presenting with unexplained cardiovascular compromise, especially if they display (inverted) takotsubo contractile pattern. Timely, adequate management might involve ECMO as a bridge to pharmacological therapy and curative surgery.

  2. Cell therapy in dilated cardiomyopathy: from animal models to clinical trials

    Directory of Open Access Journals (Sweden)

    C. del Corsso

    2011-05-01

    Full Text Available Dilated cardiomyopathy can be the end-stage form and common denominator of several cardiac disorders of known cause, such as hypertensive, ischemic, diabetic and Chagasic diseases. However, some individuals have clinical findings, such as an increase in ventricular chamber size and impaired contractility (classical manifestations of dilated cardiomyopathy even in the absence of a diagnosed primary disease. In these patients, dilated cardiomyopathy is classified as idiopathic since its etiology is obscure. Nevertheless, regardless of all of the advances in medical, pharmacological and surgical procedures, the fate of patients with dilated cardiomyopathy (of idiopathic or of any other known cause is linked to arrhythmic episodes, severe congestive heart failure and an increased risk of sudden cardiac death. In this review, we will summarize present data on the use of cell therapies in animal models of dilated cardiomyopathies and will discuss the few clinical trials that have been published so far involving patients affected by this disease. The animal models discussed here include those in which the cardiomyopathy is produced by genetic manipulation and those in which disease is induced by chemical or infectious agents. The specific model used clearly creates restrictions to translation of the proposed cell therapy to clinical practice, insofar as most of the clinical trials performed to date with cell therapy have used autologous cells. Thus, translation of genetic models of dilated cardiomyopathy may have to wait until the use of allogeneic cells becomes more widespread in clinical trials of cell therapies for cardiac diseases.

  3. Cell therapy in dilated cardiomyopathy: from animal models to clinical trials.

    Science.gov (United States)

    Del Corsso, C; Campos de Carvalho, A C

    2011-05-01

    Dilated cardiomyopathy can be the end-stage form and common denominator of several cardiac disorders of known cause, such as hypertensive, ischemic, diabetic and Chagasic diseases. However, some individuals have clinical findings, such as an increase in ventricular chamber size and impaired contractility (classical manifestations of dilated cardiomyopathy) even in the absence of a diagnosed primary disease. In these patients, dilated cardiomyopathy is classified as idiopathic since its etiology is obscure. Nevertheless, regardless of all of the advances in medical, pharmacological and surgical procedures, the fate of patients with dilated cardiomyopathy (of idiopathic or of any other known cause) is linked to arrhythmic episodes, severe congestive heart failure and an increased risk of sudden cardiac death. In this review, we will summarize present data on the use of cell therapies in animal models of dilated cardiomyopathies and will discuss the few clinical trials that have been published so far involving patients affected by this disease. The animal models discussed here include those in which the cardiomyopathy is produced by genetic manipulation and those in which disease is induced by chemical or infectious agents. The specific model used clearly creates restrictions to translation of the proposed cell therapy to clinical practice, insofar as most of the clinical trials performed to date with cell therapy have used autologous cells. Thus, translation of genetic models of dilated cardiomyopathy may have to wait until the use of allogeneic cells becomes more widespread in clinical trials of cell therapies for cardiac diseases.

  4. A Novel Myosin Essential Light Chain Mutation Causes Hypertrophic Cardiomyopathy with Late Onset and Low Expressivity

    Directory of Open Access Journals (Sweden)

    Paal Skytt Andersen

    2012-01-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is caused by mutations in genes encoding sarcomere proteins. Mutations in MYL3, encoding the essential light chain of myosin, are rare and have been associated with sudden death. Both recessive and dominant patterns of inheritance have been suggested. We studied a large family with a 38-year-old asymptomatic HCM-affected male referred because of a murmur. The patient had HCM with left ventricular hypertrophy (max WT 21 mm, a resting left ventricular outflow gradient of 36 mm Hg, and left atrial dilation (54 mm. Genotyping revealed heterozygosity for a novel missense mutation, p.V79I, in MYL3. The mutation was not found in 300 controls, and the patient had no mutations in 10 sarcomere genes. Cascade screening revealed a further nine heterozygote mutation carriers, three of whom had ECG and/or echocardiographic abnormalities but did not fulfil diagnostic criteria for HCM. The penetrance, if we consider this borderline HCM the phenotype of the p.V79I mutation, was 40%, but the mean age of the nonpenetrant mutation carriers is 15, while the mean age of the penetrant mutation carriers is 47. The mutation affects a conserved valine replacing it with a larger isoleucine residue in the region of contact between the light chain and the myosin lever arm. In conclusion, MYL3 mutations can present with low expressivity and late onset.

  5. Clinical and echocardiographic analysis of patients suffering from recurrent takotsubo cardiomyopathy

    Science.gov (United States)

    El-Battrawy, Ibrahim; Ansari, Uzair; Behnes, Michael; Hillenbrand, Dennis; Schramm, Katja; Haghi, Darius; Hoffmann, Ursula; Papavassiliu, Theano; Elmas, Elif; Fastner, Christian; Becher, Tobias; Baumann, Stefan; Dösch, Christina; Heggemann, Felix; Kuschyk, Jürgen; Borggrefe, Martin; Akin, Ibrahim

    2016-01-01

    Background Recurrence of takotsubo cardiomyopathy (TTC) is a well-known complication. However, current literature lists only a few isolated cases. We aimed to determine the incidence and clinical significance of recurrent TTC. Methods & Results Our institutional database constituted a collective of 114 patients diagnosed with TTC since 2003. Close follow-up of these patients revealed a recurrence of TTC in seven of these (6.1%). The time interval between the index event and its recurrence varied between six months and six years. Arterial hypertension was more revealed in the recurrence group of TTC compared to non-recurrence group, (P = 0.02). Chronic obstructive pulmonary disease and/or asthma was more diagnosed in the recurrence group, (P = 0.04). Clinical events like right ventricular involvement, TTC related complications such as life-threatening arrhythmias, pulmonary congestion and in hospital death were observed more frequently in the recurrent episode. Over a mean follow-up of one year the mortality rate was similar in both groups. Conclusions Recurrence of TTC within six years after index event is not an uncommon phenomenon. In the event of right ventricular involvement in the relapse phase, it might be associated with a higher complication rate. TTC recurrence should be the first differential diagnosis in patients with a past history of TTC. PMID:28133464

  6. Surgical treatment of left ventricular wall rupture, regarded as a consequence of Takotsubo cardiomyopathy

    Science.gov (United States)

    Kudaiberdiev, Taalaibek; Akhmedova, Irina; Imanalieva, Gulzada; Abdildaev, Ildar; Jooshev, Kilichbek; Ashimov, Jamalbek; Mirzabekov, Azamat; Gaybildaev, Janibek

    2017-01-01

    Objective: We present the case of possible reverse type of TCM in a female patient presented with progressive left ventricular dysfunction and its rupture in pericardium. Methods: The detailed history, physical examination, laboratory tests, electrocardiography, serial echocardiography, coronary angiography with left ventriculography were performed to diagnose possible Takotsubo cardiomyopathy in 63-year old woman admitted to our center with complaints of dyspnea, lightheadedness, weakness and signs of hypotension and history of inferior myocardial infarction, acute left ventricular aneurysm, and effusive pericarditis and pleuritis, developed after emotional stress 5 months ago. Results: Clinical evaluation revealed unremarkable laboratory tests, normal troponin values, signs of old inferior myocardial infarction on electrocardiogram, and left ventricular (LV) dilatation and dysfunction, akinesia of LV infero-lateral wall with thinning and its rupture and blood shunting in pericardium. Her coronary angiography revealed normal coronary arteries. The diagnosis of pheochromocytoma was excluded. The patient underwent surgery under cardiopulmonary bypass with removal of LV pseudoaneurysm. The patient was discharged from hospital with improvement in NYHA class and LV function. Conclusion: Thus, in female postmenopausal patients presenting with acute myocardial infarction signs complicated by pericarditis, intact coronary arteries and LV dysfunction with emotional stress as triggering factor, reverse type of TCM should be considered and proper management applied to prevent development of life-threatening complications like LV rupture. PMID:28228965

  7. Surgical treatment of left ventricular wall rupture, regarded as a consequence of Takotsubo cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Taalaibek Kudaiberdiev

    2017-01-01

    Full Text Available Objective: We present the case of possible reverse type of TCM in a female patient presented with progressive left ventricular dysfunction and its rupture in pericardium. Methods: The detailed history, physical examination, laboratory tests, electrocardiography, serial echocardiography, coronary angiography with left ventriculography were performed to diagnose possible Takotsubo cardiomyopathy in 63-year old woman admitted to our center with complaints of dyspnea, lightheadedness, weakness and signs of hypotension and history of inferior myocardial infarction, acute left ventricular aneurysm, and effusive pericarditis and pleuritis, developed after emotional stress 5 months ago. Results: Clinical evaluation revealed unremarkable laboratory tests, normal troponin values, signs of old inferior myocardial infarction on electrocardiogram, and left ventricular (LV dilatation and dysfunction, akinesia of LV infero-lateral wall with thinning and its rupture and blood shunting in pericardium. Her coronary angiography revealed normal coronary arteries. The diagnosis of pheochromocytoma was excluded. The patient underwent surgery under cardiopulmonary bypass with removal of LV pseudoaneurysm. The patient was discharged from hospital with improvement in NYHA class and LV function. Conclusion: Thus, in female postmenopausal patients presenting with acute myocardial infarction signs complicated by pericarditis, intact coronary arteries and LV dysfunction with emotional stress as triggering factor, reverse type of TCM should be considered and proper management applied to prevent development of life-threatening complications like LV rupture.

  8. Phospholipid homeostasis and lipotoxic cardiomyopathy: a matter of balance.

    Science.gov (United States)

    Lim, Hui-Ying; Bodmer, Rolf

    2011-01-01

    Obesity has reached pandemic proportions globally and is often associated with lipotoxic heart diseases. In the obese state, caloric surplus is accommodated in the adipocytes as triglycerides. As the storage capacity of adipocytes is exceeded or malfunctioning, lipids begin to infiltrate and accumulate in non-adipose tissues, including the myocardium of the heart, leading to organ dysfunction. While the disruption of caloric homeostasis has been widely viewed as a principal mechanism in contributing to peripheral tissue steatosis and lipotoxicity, our recent studies in Drosophila have led to the novel finding that deregulation of phospholipid homeostasis may also significantly contribute to the pathogenesis of lipotoxic cardiomyopathy. Fly mutants that bear perturbations in phosphatidylethanolamine (PE) biosynthesis, such as the easily-shocked (eas) mutants defective in ethanolamine kinase, incurred aberrant activation of the sterol regulatory element binding protein (SREBP) pathway, thereby causing chronic lipogenesis and cardiac steatosis that culminates in the development of lipotoxic cardiomyopathy. Here, we describe the potential relationship between SREBP and other eas-associated phenotypes, such as neuronal excitability defects. We will further discuss the additional implications presented by our work toward the effects of altered lipid metabolism on cellular growth and/or proliferation in response to defective phospholipid homeostasis.

  9. Characterisation of peripartum cardiomyopathy by cardiac magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Mouquet, Frederic; Groote, Pascal de; Bouabdallaoui, Nadia; Dagorn, Joel; Lamblin, Nicolas; Bauters, Christophe [Pole de Cardiologie et Maladies Vasculaires, CHRU Lille et Universite Lille 2, Lille Cedex (France); Lions, Christophe; Willoteaux, Serge; Beregi, Jean Paul [Radiologie et Imagerie Cardiovasculaire, CHRU Lille et Universite Lille 2, Lille Cedex (France); Deruelle, Philippe [Gynecologie-Maternite, CHRU Lille et Universite Lille 2, Lille Cedex (France)

    2008-12-15

    Peripartum cardiomyopathy (PPCM) is a rare cause of heart failure. Only half of the patients recover normal cardiac function. We assessed the usefulness of magnetic resonance imaging (MRI) and late enhancement imaging to detect myocardial fibrosis in order to predict cardiac function recovery in patients with peripartum cardiomyopathy. Among a consecutive series of 1,037 patients referred for heart failure treatment or prognostic evaluation between 1999 and 2006, eight women had confirmed PPCM. They all underwent echocardiography and cardiac MRI for assessment of left ventricular anatomy, systolic function and detection of myocardial fibrosis through late enhancement imaging. Mean ({+-} SD) baseline left ventricular ejection fraction (LVEF) was 28 {+-} 4%. After a follow-up of 50 {+-} 9 months, half the patients recovered normal cardiac function (LVEF = 58 {+-} 4%) and four did not (LVEF = 35 {+-} 6%). None of the eight patients exhibited abnormal myocardial late enhancement. No difference in MRI characteristics was observed between the two groups. Patients with PPCM do not exhibit a specific cardiac MRI pattern and particularly no myocardial late enhancement. It suggests that myocardial fibrosis does not play a major role in the limitation of cardiac function recovery after PPCM. (orig.)

  10. Left Atrial Function in Patients with Chronic Chagasic Cardiomyopathy

    Science.gov (United States)

    Fragata, Claudia da Silva; Matsumoto, Afonso Y.; Ramires, Felix J. A.; Fernandes, Fabio; Buck, Paula de Cássia; Salemi, Vera Maria C.; Nastari, Luciano; Mady, Charles; Ianni, Barbara Maria

    2015-01-01

    Background Chagas disease is a cause of dilated cardiomyopathy, and information about left atrial (LA) function in this disease still lacks. Objective To assess the different LA functions (reservoir, conduit and pump functions) and their correlation with the echocardiographic parameters of left ventricular (LV) systolic and diastolic functions. Methods 10 control subjects (CG), and patients with Chagas disease as follows: 26 with the indeterminate form (GI); 30 with ECG alterations (GII); and 19 with LV dysfunction (GIII). All patients underwent M-mode and two-dimensional echocardiography, pulsed-wave Doppler and tissue Doppler imaging. Results Reservoir function (Total Emptying Fraction: TEF): (p <0.0001), lower in GIII as compared to CG (p = 0.003), GI (p <0.001) and GII (p <0.001). Conduit function (Passive Emptying Fraction: PEF): (p = 0.004), lower in GIII (GIII and CG, p = 0.06; GI and GII, p = 0.06; and GII and GIII, p = 0.07). Pump function (Active Emptying Fraction: AEF): (p = 0.0001), lower in GIII as compared to CG (p = 0.05), GI (p<0.0001) and GII (p = 0.002). There was a negative correlation of E/e’average with the reservoir and pump functions (TEF and AEF), and a positive correlation of e’average with s’ wave (both septal and lateral walls) and the reservoir, conduit and pump LA functions. Conclusion An impairment of LA functions in Chagas cardiomyopathy was observed. PMID:25993486

  11. Takotsubo cardiomyopathy: an overlooked cause of chest pain

    Directory of Open Access Journals (Sweden)

    Leonardo Hackbart Bermudes

    2014-06-01

    Full Text Available Takotsubo cardiomyopathy (TTC, also known as apical ballooning syndrome, broken heart syndrome, or stress-induced cardiomyopathy, is defined as a transient disturbance of the left ventricle, which is quite often associated with electrocardiographic abnormalities that may mimic acute myocardial infarction. The syndrome is also characterized by a mild alteration of cardiac biomarkers in absence of coronary blood flow obstruction on the coronariography. Clinical presentation is often manifested by angina, dyspnea, syncope, and arrhythmias. Peculiarly, the left ventricle takes the form of “tako-tsubo” (a Japanese word for “octopus trap” on the imaging workup. The authors report the case of a post-menopausal, hypertensive, dyslipidemic and type-II diabetic woman admitted at the emergency service with acute chest pain post physical exertion. Electrocardiogram showed signs of ischemia and myocardial necrosis markers were mildly increased. Echocardiography and ventriculography showed apical and mid-ventricular akinesia, with mild atherosclerotic coronary lesions. Thus diagnostic workup and the outcome followed the diagnostic criteria for TTC. The authors called attention to the potential of overlooking this diagnosis, since this syndrome is still not widely recognized.

  12. Hypertrophic Cardiomyopathy as a Manifestation of Multiple Myeloma

    Institute of Scientific and Technical Information of China (English)

    Haojian Dong; Yingling Zhou

    2008-01-01

    Multiple myeloma (MM) is a malignancy of the plasma cell characterized by migration and localization to the bone marrow where cells then disseminate and facilitate the formation of bone lesions.It is associated with a constellation of disease manifestations,apart from osteolytic lesions,anemia and immuno-suppression due to loss of normal hematopoieric stem cell function,and cardiac amyloidosis due to monoclonal immunoglobulin secretion as well[1].Amyloid infiltration of the heart may frequently masquerade as hypertrophic cardiomyopathy (HCM).HCM,of which underlying cause and pathogenesis are largely unknown,is characterized by left and/or right ventricular hypertrophy,with predominant involvement of the interventricular septum in the absence of other causes of hypertrophy,such as hypertension or valvular heart diseases[2].While excessive hypertrophy of the myocardium is most commonly associated with myocyte hypertrophy,infiltration with amyloid always needs to be considered.In this report we presented two cases of multiple myeloma that mimicked hypertrophic cardiomyopathy so closely that it required bone marrow or endomyocardial biopsy to establish the diagnosis.

  13. Left Atrial Function in Patients with Chronic Chagasic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Claudia da Silva Fragata

    2015-01-01

    Full Text Available Background: Chagas disease is a cause of dilated cardiomyopathy, and information about left atrial (LA function in this disease still lacks. Objective: To assess the different LA functions (reservoir, conduit and pump functions and their correlation with the echocardiographic parameters of left ventricular (LV systolic and diastolic functions. Methods: 10 control subjects (CG, and patients with Chagas disease as follows: 26 with the indeterminate form (GI; 30 with ECG alterations (GII; and 19 with LV dysfunction (GIII. All patients underwent M-mode and two-dimensional echocardiography, pulsed-wave Doppler and tissue Doppler imaging. Results: Reservoir function (Total Emptying Fraction: TEF: (p <0.0001, lower in GIII as compared to CG (p = 0.003, GI (p <0.001 and GII (p <0.001. Conduit function (Passive Emptying Fraction: PEF: (p = 0.004, lower in GIII (GIII and CG, p = 0.06; GI and GII, p = 0.06; and GII and GIII, p = 0.07. Pump function (Active Emptying Fraction: AEF: (p = 0.0001, lower in GIII as compared to CG (p = 0.05, GI (p<0.0001 and GII (p = 0.002. There was a negative correlation of E/e’ average with the reservoir and pump functions (TEF and AEF, and a positive correlation of e’ average with s’ wave (both septal and lateral walls and the reservoir, conduit and pump LA functions. Conclusion: An impairment of LA functions in Chagas cardiomyopathy was observed.

  14. Model-Driven Paediatric Cardiomyopathy Pathways - A Clinical Impact Assessment.

    Science.gov (United States)

    Stroetmann, Karl A; Thiel, Rainer

    2017-01-01

    Intermediate results from an ongoing health technology assessment exercise of a simulation model of paediatric cardiomyopathy are reported. Comprehensive data on paediatric cardiomyopathy/heart failure, treatment options, incidence and prevalence, prognoses for different outcomes to be expected were collected. Based on this knowledge, a detailed clinical pathway model was developed and validated against the clinical workflow in a tertiary paediatric care hospital. It combines three disease stages and various treatment options with estimates of the probabilities of a child moving from one stage to another. To reflect the complexity of initial decision taking by clinicians, a three-stage Markov model was combined with a decision tree approach - a Markov decision process. A Markov Chain simulation tool was applied to compare estimates of transition probabilities and cost data of present standard of care treatment options for a cohort of children over ten years with expected improvements from using a clinical decision support tool based on the disease model under development. Early results indicate a slight increase of overall costs resulting from the extra cost of using such a tool in spite of some savings to be expected from improved care. However, the intangible benefits in life years saved of severely ill children and the improvement in QoL to be expected for moderately ill ones should more than compensate for this.

  15. Contractile apparatus dysfunction early in thepathophysiology of diabetic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    2015-01-01

    Diabetes mellitus significantly increases the risk ofcardiovascular disease and heart failure in patients.Independent of hypertension and coronary arterydisease, diabetes is associated with a specific cardiomyopathy,known as diabetic cardiomyopathy (DCM).Four decades of research in experimental animalmodels and advances in clinical imaging techniquessuggest that DCM is a progressive disease, beginningearly after the onset of type 1 and type 2 diabetes,ahead of left ventricular remodeling and overt diastolicdysfunction. Although the molecular pathogenesis ofearly DCM still remains largely unclear, activation ofprotein kinase C appears to be central in driving theoxidative stress dependent and independent pathwaysin the development of contractile dysfunction. Multiplesubcellular alterations to the cardiomyocyte are nowbeing highlighted as critical events in the early changesto the rate of force development, relaxation and stabilityunder pathophysiological stresses. These changes includeperturbed calcium handling, suppressed activity ofaerobic energy producing enzymes, altered transcriptionaland posttranslational modification of membrane andsarcomeric cytoskeletal proteins, reduced actin-myosincross-bridge cycling and dynamics, and changed myofilamentcalcium sensitivity. In this review, we will presentand discuss novel aspects of the molecular pathogenesisof early DCM, with a special focus on the sarcomericcontractile apparatus.

  16. Diabetic cardiomyopathy:Pathophysiology,diagnostic evaluation and management

    Institute of Scientific and Technical Information of China (English)

    Joseph; M; Pappachan; George; I; Varughese; Rajagopalan; Sriraman; Ganesan; Arunagirinathan

    2013-01-01

    Diabetes affects every organ in the body and cardiovascular disease accounts for two-thirds of the mortality in the diabetic population.Diabetes-related heart disease occurs in the form of coronary artery disease(CAD),cardiac autonomic neuropathy or diabetic cardiomyopathy(DbCM).The prevalence of cardiac failure is high in the diabetic population and DbCM is a common but underestimated cause of heart failure in diabetes.The pathogenesis of diabetic cardiomyopathy is yet to be clearly defined.Hyperglycemia,dyslipidemia and inflammation are thought to play key roles in the generation of reactive oxygen or nitrogen species which are in turn implicated.The myocardial interstitium undergoes alterations resulting in abnormal contractile function noted in DbCM.In the early stages of the disease diastolic dysfunction is the only abnormality,but systolic dysfunction supervenes in the later stages with impaired left ventricular ejection fraction.Transmitral Doppler echocardiography is usually used to assess diastolic dysfunction,but tissue Doppler Imaging and Cardiac Magnetic Resonance Imaging are being increasingly used recently for early detection of DbCM.The management of DbCM involves improvement in lifestyle,control of glucose and lipid abnormalities,and treatment of hypertension and CAD,if present.The role of vasoactive drugs and antioxidants is being explored.This review discusses the pathophysiology,diagnostic evaluation and management options of DbCM.

  17. DIABETIC CARDIOMYOPATHY: INSIGHTS INTO PATHOGENESIS, DIAGNOSTIC CHALLENGES, AND THERAPEUTIC OPTIONS

    Directory of Open Access Journals (Sweden)

    Chintan N. Mehta

    2012-10-01

    Full Text Available Diabetic cardiomyopathy is the presence of myocardial dysfunction in the absence of coronary artery disease and hypertension. Hyperglycemia seems to be central to the pathogenesis of diabetic cardiomyopathy and to trigger a series of maladaptive stimuli that result in myocardial fibrosis and collagen deposition. These processes are thought to be responsible for altered myocardial relaxation characteristics and manifest as diastolic dysfunction on imaging. Sophisticated imaging technologies also have permitted the detection of subtle systolic dysfunction in the diabetic myocardium. In the early stages, these changes appear reversible with tight metabolic control, but as the pathologic processes become organized, the changes are irreversible and contribute to an excess risk of heart failure among diabetic patients independently of common comorbidities, such as coronary artery disease and hypertension. Therapeutic agents specifically targeting processes that lead to these pathophysiologic changes are in the early stages of development. Although glycemic control and early administration of neuro-hormonal antagonists remain the cornerstones of therapeutic approaches, newer treatment targets are currently being explored.

  18. Mechanisms underlying the impaired contractility of diabetic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    Marie-Louise; Ward; David; J; Crossman

    2014-01-01

    Cardiac dysfunction is a well-known consequence of diabetes,with sustained hyperglycaemia leading to the development of a cardiomyopathy that is independent of cardiovascular disease or hypertension.Animal models of diabetes are commonly used to study the pathophysiology of diabetic cardiomyopathy,with the hope that increased knowledge will lead ultimately to better therapeutic strategies being developed.At physiological temperature,left ventricular trabeculae isolated from the streptozotocin rat model of type 1 diabetes showed decreased stress and prolonged relaxation,but with no evidence that decreased contractility was a result of altered myocardial Ca2+handling.Although sarcoplasmic reticulum(SR)Ca2+reuptake appeared slower in diabetic trabeculae,it was offset by an increase in actionpotential duration,thereby maintaining SR Ca2+content and favouring increased contraction force.Frequency analysis of t-tubule distribution by confocal imaging of ventricular tissue labeled with wheat germ agglutinin or ryanodine receptor antibodies showed a reduced T-power for diabetic tissue,but the differences were minor in comparison to other models of heart failure.The contractile dysfunction appeared to be the result of disrupted F-actin in conjunction with the increased typeⅠcollagen,with decreased myofilament Ca2+sensitivity contributing to the slowed relaxation.

  19. Epidemiology and genetics of dilated cardiomyopathy in the Indian context

    Directory of Open Access Journals (Sweden)

    Ushasree B

    2009-07-01

    Full Text Available Background: Dilated cardiomyopathy (DCM still remains to be a poorly understood and less analyzed group of cardiac-muscle disorders when compared to hypertrophic cardiomyopathy (HCM. Also, the vast clinical heterogeneity among the patients has rendered the small and isolated kindred studies less informative on the genetics and epidemiology of DCM. Aim of the study: The study aimed at understanding the epidemiology and genetics of DCMs in the Indian context. Materials and methods/ Statistical analysis: One hundred seven DCM patients and 105 healthy individuals were included in the study for epidemiological and genetic risk factor identification and to fit the possible mode of inheritance. Single′s ascertainment methodology for segregation analysis and Penrose frequency estimates were followed to evaluate for the role of specific epidemiological factors in the disease etiology. Chi-square analysis was carried out to interpret the results statistically. Results and Conclusion: Our study suggests that epidemiological factors like gender, age at onset and vegetarian diet in conjunction with sarcomere gene mutations may play a role in the disease expression. Similarly, segregation analysis for the possible mode of inheritance showed a deviation from the autosomal dominant mode of inheritance, strengthening the underlying genetic heterogeneity of DCM.

  20. [The thickness/radius ratio (t/r) in patients with dilated and hypertrophic cardiomyopathy].

    Science.gov (United States)

    Guadalajara, J F; Valenzuela, F; Martínez Sánchez, C; Huerta, D

    1990-01-01

    We studied 17 patients with cardiomyopathy (10 hypertrophic and 7 dilated). With two-dimensional echocardiography, we obtained a short axis view at the level of papillary muscle. We calculated the ratio between thickness (h), of ventricular wall and cavity's radius (r) in diastole and systole (h/r ratio). Hypertrophic cardiomyopathy has a high h/r ratio in diastole (inappropriate hypertrophy), hypercontractility and low and systolic wall stress. Dilated cardiomyopathy has a low diastolic h/r ratio (inadequate hypertrophy) with low contractility and elevated end-systolic, wall stress. We discuss the mechanisms and consequences of different patterns of hypertrophy on the ventricular performance.

  1. Takotsubo cardiomyopathy and thrombotic thrombocytopenic purpura preceding a lupus diagnosis: a case report.

    Science.gov (United States)

    Georgiades, F; Demosthenous, S; Braimi, M; Tsitskari, T; Psarelis, S

    2015-11-01

    Takotsubo cardiomyopathy, a rare stress-related cardiomyopathy, has been observed in a few cases secondary to systemic lupus erythematosus (SLE). Herein, we report an unusual case where a postmenopausal woman presented initially with Takotsubo syndrome, later developed thrombotic thrombocytopenic purpura and cerebrovascular events, initially without clinical or laboratory features of SLE. During the course of her illness, she was found to satisfy four of the Systemic Lupus International Collaborating Clinics classification criteria for a SLE diagnosis. This unique presentation of our patient, initially with Takotsubo cardiomyopathy, the development of thrombotic thrombocytopenic purpura and cerebrovascular events preceding the diagnosis of SLE illustrates the importance of clinical observation and follow-up.

  2. An Unusual Type of Localized Hypertrophic Cardiomyopathy With Wolf Parkinson White Syndrome Presenting With Pulmonary Edema

    Science.gov (United States)

    Vatan, Mehmet Bulent; Gunduz, Huseyin; Gurel, Safiye; Kocayigit, Ibrahim; Vural, Ahmet; Demirtas, Saadet; Cakar, Mehmet Akif; Gunduz, Yasemin

    2012-01-01

    Hypertrophic cardiomyopathy (HCM) is an autosomal dominant heart disease that is the most common genetic cardiac disorder. The disease is characterized by excessive thickening of the left ventricular myocardium. The anterior portion of the interventricular ventricular septum is often involved. Asymmetric hypertrophy of apical site, left ventricular free wall, and right ventricle are less common in hypertrophic cardiomyopathy that occur in 1% cases. We report a case of a patient with an unusual type of hypertrophic cardiomyopathy and Wolf Parkinson White (WPW) presenting with pulmonary edema.

  3. Down Syndrome with Complete Atrioventricular Septal Defect, Hypertrophic Cardiomyopathy, and Pulmonary Vein Stenosis.

    Science.gov (United States)

    Mahadevaiah, Guruprasad; Gupta, Manoj; Ashwath, Ravi

    2015-10-01

    The prevalence of congenital heart disease in infants with Down syndrome is 40%, compared with 0.3% in children who have normal chromosomes. Atrioventricular and ventricular septal defects are often associated with chromosomal aberrations, such as in trisomy 21, whereas hypertrophic cardiomyopathy is chiefly thought to be secondary to specific gene mutations. We found only one reported case of congenital hypertrophic cardiomyopathy and atrioventricular septal defect in an infant with Down syndrome. Here, we report atrioventricular septal defect, hypertrophic cardiomyopathy, and pulmonary vein stenosis in a neonate with Down syndrome-an apparently unique combination. In addition, we discuss the relevant medical literature.

  4. Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms

    DEFF Research Database (Denmark)

    Rasmussen, T B; Hansen, Jakob; Nissen, P H;

    2013-01-01

    identified and included haploinsufficiency, dominant-negative effects, or a combination hereof. Furthermore, the results suggest that the keratinocytes cultured from patients are a valuable and easily accessible resource to elucidate the effects of desmosomal gene mutations in humans....

  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

    2017-02-01

    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. Three-dimensional phase-sensitive inversion recovery sequencing in the evaluation of left ventricular myocardial scars in ischemic and non-ischemic cardiomyopathy: Comparison to three-dimensional inversion recovery sequencing

    Energy Technology Data Exchange (ETDEWEB)

    Kido, Tomoyuki, E-mail: tomozo0421@gmail.com [Department of Radiology, Ehime University Graduate School of Medicine (Japan); Kido, Teruhito; Nakamura, Masashi; Kawaguchi, Naoto; Nishiyama, Yoshiko [Department of Radiology, Ehime University Graduate School of Medicine (Japan); Ogimoto, Akiyoshi [Department of Cardiovascular Internal Medicine, Ehime University Graduate School of Medicine (Japan); Miyagawa, Masao; Mochizuki, Teruhito [Department of Radiology, Ehime University Graduate School of Medicine (Japan)

    2014-12-15

    Highlights: • We evaluate 3D PSIR compared with 3D IR for the detection of myocardial scars. • In image quality, there was no significant difference between IR and PSIR. • A quantitative analysis of LGE volume shows a strong correlation between PSIR and IR. • PSIR detected greater LGE volume in non-ischemic cardiomyopathy patients than IR. • PSIR may have a specific role in scar evaluation of non-ischemic cardiomyopathy. - Abstract: Background: Late gadolinium enhancement (LGE) magnetic resonance imaging (MRI) is a useful technique for detecting myocardial fibrosis. LGE images are typically acquired using the inversion recovery (IR) method. Recently, phase-sensitive inversion recovery (PSIR) technology has been developed. The purpose of this study was to evaluate free-breathing 3D PSIR sequencing in comparison with breath-held 3D IR sequencing for the detection of myocardial fibrosis. Methods: One hundred twenty-three patients with suspected ischemic cardiac disease (n = 27) or non-ischemic cardiomyopathy (hypertrophic cardiomyopathy, n = 29; dilated cardiomyopathy, n = 22; sarcoidosis, n = 21; arrhythmia, n = 9; myocarditis, n = 4; amyloidosis, n = 3; and others, n = 8) were evaluated by LGE–MRI, which was performed first with the IR sequence and then with the PSIR sequence, using a 3 T MRI scanner. Image quality was scored by two independent readers using a four-point scale. The 3D LGE volume was analyzed quantitatively and compared between both sequencing methods. Results: There was no significant difference in overall image quality (p = 0.19). LGE was detected in 73 patients, who were evaluated visually. Ultimately, 58 patients with acceptable image quality were enrolled in further quantitative analyses (volume assessment). Although quantification of LGE volume revealed a strong correlation between both methods, larger LGE volumes were detected with PSIR compared to IR in patients suspected of non-ischemic cardiomyopathy (39.5 ± 25.9 cm{sup 3} for

  7. Exercise echocardiography in the evaluation of obstructive types of hypertrophic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    邵春丽

    2013-01-01

    Objective To assess the condition of left ventricular outflow tract obstruction (LVOTO) under resting conditions and physiological exercise in hypertrophic cardiomyopathy (HCM) patients.Methods A total of 60 patients with HCM and left ventricular outflow tract gradient

  8. 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

    BACKGROUND: No medical treatment has been reliably shown to halt or reverse disease progression in hypertrophic cardiomyopathy, but the results of several pilot studies have suggested beneficial effects of angiotensin II receptor blockers on left ventricular hypertrophy and fibrosis, which...

  9. Right Ventricular Imaging and Computer Simulation for Electromechanical Substrate Characterization in Arrhythmogenic Right Ventricular Cardiomyopathy

    NARCIS (Netherlands)

    Mast, TP; Teske, Arco J; Walmsley, John; van der Heijden, Jeroen F; van Es, René; Prinzen, Frits W; Delhaas, Tammo; van Veen, Toon A; Loh, KP; Doevendans, Pieter A; Cramer, Maarten J; Lumens, Joost

    2016-01-01

    BACKGROUND: Previous studies suggested that electrical abnormalities precede overt structural disease in arrhythmogenic right ventricular cardiomyopathy (ARVC). Abnormal RV deformation has been reported in early ARVC without structural abnormalities. The pathophysiological mechanisms underlying thes

  10. Two cases of takotsubo cardiomyopathy in patients treated with high doses of inhaled beta-2-agonists

    DEFF Research Database (Denmark)

    Thomsen, Camilla Fjord; Jeppesen, Jørgen Lykke; Stride, Nis Ottesen

    2016-01-01

    Takotsubo cardiomyopathy (TCM) is characterised by reversible left ventricular dysfunction in patients presenting with acute coronary syndrome (ACS). TCM is considered multifactorial, and the repetitive exposure to inhaled beta-2-agonists has been suspected to induce TCM in predisposed individuals...

  11. Association Between Hypertensive Disorders of Pregnancy and Later Risk of Cardiomyopathy

    DEFF Research Database (Denmark)

    Behrens, Ida; Basit, Saima; Lykke, Jacob Alexander;

    2016-01-01

    IMPORTANCE: Women with hypertensive disorders of pregnancy, preeclampsia in particular, have an increased risk of cardiomyopathy during the peripartum period. Whether hypertensive disorders of pregnancy are also associated with cardiomyopathy later in life is unknown. OBJECTIVE: To determine...... whether hypertensive disorders of pregnancy are associated with cardiomyopathy beyond the peripartum period. DESIGN, SETTING, AND PARTICIPANTS: Nationwide register-based cohort study using Cox regression to compare rates of cardiomyopathy in women with and without a history of hypertensive disorders...... of pregnancy in a cohort of 1,075,763 women with at least 1 pregnancy ending in live birth or stillbirth in Denmark, 1978-2012, with follow-up through December 31, 2012. EXPOSURES: A hypertensive disorder of pregnancy (severe or moderate preeclampsia or gestational hypertension) registered in the National...

  12. Clinical characteristics and genetic analysis of three pediatric patients with idiopathic restrictive cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    杨世伟

    2013-01-01

    Objective Restrictive cardiomyopathy(RCM) is rare in children,and little is known about the molecular basis of RCM.The aim of this study was to investigate the clinical and myopathological characteristics and to detect

  13. Cardiomyopathy induced by pulmonary sequestration in a 50-year-old man.

    Science.gov (United States)

    Chatelain, Shaun; Comp, Robert A; Grace, R Randal; Sabbath, Adam M

    2015-02-01

    A 50-year-old black man presented at the emergency department with midsternal, nonradiating chest pressure and chronic dyspnea on exertion. Four years before the current admission, he had been diagnosed with nonischemic cardiomyopathy at another facility. After our complete evaluation, we suspected that his symptoms arose from left-to-left shunting in association with pulmonary sequestration, a congenital malformation. Our preliminary diagnosis of secondary dilated cardiomyopathy was confirmed by normalization of the patient's ventricular size and function after lobectomy. To our knowledge, this patient is the oldest on record to present with cardiomyopathy consequent to pulmonary sequestration. His case is highly unusual because of his age and the rapid resolution of his symptoms after lobectomy. We believe that pulmonary sequestration should be included in the differential diagnosis of dilated cardiomyopathy.

  14. Cardiac MRI in a Patient with Coincident Left Ventricular Non-Compaction and Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Zahra Alizadeh-Sani

    2011-12-01

    Full Text Available Left ventricular non-compaction cardiomyopathy is a rare congenital cardiomyopathy that affects both children and adults. Since the clinical manifestations are not sufficient to establish diagnosis, echocardiography is the diagnostic tool that makes it possible to document ventricular non-compaction and establish prognostic factors. We report a 47-year-old woman with a history of dilated cardiomyopathy with unknown etiology. Echocardiography showed mild left ventricular enlargement with severe systolic dysfunction (EF = 20-25%. According to cardiac magnetic resonance imaging findings non-compaction left ventricle with hypertrophic cardiomyopathy was considered, and right ventricular septal biopsy was recommended. Right ventricular endomyocardial biopsy showed moderate hypertrophy of cardiac myocytes with foci of myocytolysis and moderate interstitial fibrosis. No evidence of infiltrative deposition was seen.

  15. Usefulness of immunostaining for plakoglobin as a diagnostic marker of arrhythmogenic right ventricular cardiomyopathy

    DEFF Research Database (Denmark)

    Munkholm, Julie; Christensen, Alex H; Svendsen, Jesper H;

    2012-01-01

    The clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC) is often challenging due to phenotypic variation, reduced/age-related penetrance, and lack of a diagnostic test. A single report has suggested quantitative myocardial immunoanalysis for the desmosomal protein...

  16. The Nonlinear Structure of the Desmoplakin Plakin Domain and the Effects of Cardiomyopathy-Linked Mutations

    NARCIS (Netherlands)

    C. Al-Jassar; T. Knowles; M. Jeeves; K. Kami; E. Behr; H. Bikker; M. Overduin; M. Chidgey

    2011-01-01

    Desmoplakin is a cytoplasmic desmosomal protein that plays a vital role in normal intercellular adhesion. Mutations in desmoplakin can result in devastating skin blistering diseases and arrhythmogenic right ventricular cardiomyopathy, a heart muscle disorder associated with ventricular arrhythmias,

  17. Anaesthesia Application for Cardiac Denervation in a Patient with Long QT Syndrome and Cardiomyopathy

    Science.gov (United States)

    Karadeniz, Ümit; Demir, Aslı; Koçulu, Rabia

    2016-01-01

    Long QT syndrome is a congenital disorder that is characterized by a prolongation of the QT interval on electrocardiograms and a propensity to ventricular tachyarrhythmias, which may lead to syncope, cardiac arrest or sudden death. Cardiomyopathy and pulmonary hypertension diseases have additional risks in anaesthesia management. In this study, we emphasize on one lung ventilation, pacemaker-implantable cardioverter–defibrillator and the anaesthesia management process in a patient with long QT syndrome, cardiomyopathy and pulmonary hypertension who underwent thoracic sympathectomy. PMID:27366557

  18. (123)I-MIBG Scintigraphy in the Subacute State of Takotsubo Cardiomyopathy

    DEFF Research Database (Denmark)

    Christensen, Thomas Emil; Bang, Lia Evi; Holmvang, Lene;

    2016-01-01

    OBJECTIVES: The study sought to investigate adrenergic activity in patients with takotsubo cardiomyopathy (TTC). BACKGROUND: TTC is a specific type of reversible heart failure possibly caused by excessive catecholamine stimulation of the myocardium. Scintigraphic iodine-123-meta-iodobenzylguanidi......OBJECTIVES: The study sought to investigate adrenergic activity in patients with takotsubo cardiomyopathy (TTC). BACKGROUND: TTC is a specific type of reversible heart failure possibly caused by excessive catecholamine stimulation of the myocardium. Scintigraphic iodine-123-meta...

  19. Myocardial uptake of Tc-99m MDP in chronic renal failure with cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Seung Eun; Sohn, Hyung Sun; Chung, Yong An; Park, Young Ha; Kim, Sung Hoon; Chung, Soo Kyo [The Catholic Univ. of Korea, Seoul (Korea, Republic of)

    2000-06-01

    A uremic patient on hemodialysis, who had concurrent cardiomyopathy showed intense myocardial uptake of {sup 99m}Tc-methylene diphosphonate (MDP). The presumed cause of uptake in the myocardium is metastatic calcification due to hypercalcemia secondary to the renal failure. However, supplementary mechanism caused by cardiomyopathy should be considered. We describe a case with bone tracer uptake in the myocardium in the absence of infarction in a patient with chronic renal failure.

  20. Isolated right ventricular cardiomyopathy with autoimmune hypothyroidism: a rare association in an adolescent

    Science.gov (United States)

    Yelve, Kavita; Panandikar, Gajanan Ashok; Pazare, Amar; Bajpai, Smrati

    2015-01-01

    A 13-year-old girl presented with progressive dyspnoea and palpitation, diagnosed on echocardiography as primary right ventricular cardiomyopathy with atrial fibrillation. Her thyroid profile was positive for antithyroid microsomal antibody, and antithyroid peroxidase antibodies were suggestive of autoimmune hypothyroidism. She was managed with furosemide, digoxin, acenocoumarol and thyroxine following which she showed significant improvement. This is a rare case of isolated right ventricular cardiomyopathy and its association with autoimmune hypothyroidism presenting at the age of 13. PMID:25795745

  1. Anaesthetic management of peripartum cardiomyopathy for emergency caesarean section: A case report

    Directory of Open Access Journals (Sweden)

    Teena Bansal

    2014-06-01

    Full Text Available Peripartum cardiomyopathy is a rare but life threatening condition. Anaesthetic management of a patient with peripartum cardiomyopathy for caesarean section is a major challenge for anaesthesiologist. Timely diagnosis of the condition, institution of appropriate medication regimen, a carefully chosen anaesthetic technique and vigilant perioperative monitoring are essential for optimizing outcome in these patients. The goals of anaesthetic management include maintenance of optimal ventricular preload and afterload while avoiding any anaesthesia induced myocardial depression.

  2. Silent diabetic cardiomyopathy in everyday practice: a clinical and echocardiographic study

    OpenAIRE

    Loncarevic, Brane; Trifunovic, Danijela; Soldatovic, Ivan; Vujisic-Tesic, Bosiljka

    2016-01-01

    Background Whether type 2 diabetes mellitus (DM) in the absence of hypertension (HTA) and coronary artery disease (CAD) affects left ventricular (LV) phenotype and function among asymptomatic DM patients that can be easily discovered in everyday practice, what is the clinical risk profile for diabetic cardiomyopathy and how HTA and CAD modulate LV structure and function above diabetic cardiomyopathy, are still incompletely answered questions. Methods In 210 DM patients (group I: 70 asymptomat...

  3. Cesarean section in a patient with non-compaction cardiomyopathy managed with ECMO

    OpenAIRE

    Koster, A A; Pappalardo, F.; Silvetti, S; Schirmer, U; Lueth, J U; Dummler, R; Emmerich, M; Schmitt, M.; Kirchne, G; Kececioglu, D; Sandica, E

    2013-01-01

    Isolated ventricular non-compaction is a rare cardiomyopathy associated with left heart failure, severe arrhythmias and thromboembolism. We report about our interdisciplinary strategy in a patient with severe isolated ventricular non-compaction cardiomyopathy scheduled for caesarean section in general anaesthesia. Monitoring included placement of an arterial line, a central venous catheter and a pulmonary artery catheter with pacing option. Small introducer gates were placed in the femoral ar...

  4. 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.

  5. 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.

  6. Takotsubo cardiomyopathy associated with sepsis due to Pseudomonas aeruginosa pneumoniadoi: 10.12662/2317-3076jhbs.v3i4.169.p242-244.2015

    Directory of Open Access Journals (Sweden)

    Márcio da Silva Pereira

    2015-12-01

    Full Text Available The authors describe a case report of a 71 year-old female patient admitted at the emergency service due to severe precordial chest pain associated with dyspnea and sweating. The electrocardiogram performed on admission showed ST elevation on V2 and V3 leads and the ventriculography revealed left ventricular apical ballooning, denoting the diagnosis of Takotsubo Cardiomyopathy. At the eighth day of hospitalization, although the heart function was recovered, the patient died due the clinical complications of a septic shock.

  7. Hemorrhagic Onset of Hemangioblastoma Located in the Dorsal Medulla Oblongata Presenting with Tako-Tsubo Cardiomyopathy and Neurogenic Pulmonary Edema: A Case Report

    Directory of Open Access Journals (Sweden)

    Masayuki Gekka

    2014-03-01

    Full Text Available Here, we present a case of dorsal medulla oblongata hemangioblastoma with fourth ventricular hemorrhage. A 23-year-old female developed sudden consciousness disturbance, and CT revealed hemorrhage in all cerebral ventricles and a hyperdense mass in the cisterna magna. Although the reddish tumor located in the dorsal medulla oblongata was successfully removed, she suffered from severe tako-tsubo cardiomyopathy (TTC and neurogenic pulmonary edema (NPE because of baroreflex failure and damage to the solitary tract nuclei. After intensive care for 12 weeks following surgery, she was discharged without any neurological or radiological deficits. Pathogenesis of TTC/NPE is discussed in this paper.

  8. A Case Report of Cardiac Amyloidosis Initially Managed as Dilated Cardiomyopathy: Missing the obvious!

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    Yerramareddy Vijaya Chandra

    2016-06-01

    Full Text Available Amyloidosis is a rare disorder with uncertain incidence; however, in UK and US population, AL amyloidosis, the most frequently diagnosed type, has an annual incidence of 6 to 10 cases per million. [1] The deposition of amyloid, the extracellular proteinaceous material, in the tissues results in a group of disorders called amyloidoses. [2] The most commonly deposited amyloid material in various organ systems including heart are light chains, transthyretin and serum amyloid A. [2] One of the challenges in diagnosing amyloidosis early is that it commonly manifests with nonspeci c symptoms of fatigue and weight loss. The diagnosis is generally considered only when symptoms are traceable to a speci c organ. [3] Cardiac amyloidosis presents initially with mild LV diastolic dysfunction, progressing to classical restrictive cardiomyopathy and nally even dilated cardiomyopathy like stage with end-stage heart failure. The disease can be mistaken in the early stages with hypertrophic cardiomyopathy and hypertensive heart disease and in the late stages with the common-garden variety of dilated cardiomyopathy. Here, we describe a case of cardiac amyloidosis, initially diagnosed and managed as dilated cardiomyopathy with inadequate response to management. Amyloidosis; 2D ECHO; Dilated Cardiomyopathy

  9. Bromocriptine treatment associated with recovery from peripartum cardiomyopathy in siblings: two case reports

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    Drexler Helmut

    2010-03-01

    Full Text Available Abstract Introduction Peripartum cardiomyopathy is a rare form of cardiomyopathy, with heterogeneous presentation occurring in women between one-month antepartum and six months postpartum. It carries a poor prognosis and a high risk of mortality. Case presentation We report the development of peripartum cardiomyopathy in two sisters, 27- and 35-year-old African women, one of whom presented with a large left ventricular thrombus. Subsequently, both patients were treated with bromocriptine, heparin and standard therapy for heart failure (angiotensin converting enzyme inhibitors, beta-blockers and diuretics. During follow-up, the left ventricular thrombus observed in one patient degraded. Neither patient experienced a thrombotic event, and both experienced continuous improvements in cardiac function and New York Heart Association stage. Conclusion The development of peripartum cardiomyopathy in two sisters indicates that there may be a genetic basis for this type of cardiomyopathy, and that women with a positive family history for peripartum cardiomyopathy may have an increased risk of developing the disease. This is also the first report of a patient experiencing degradation of a large left ventricular thrombus under standard therapy for heart failure with bromocriptine. It suggests that the use of bromocriptine in association with adequate anti-coagulation and heart failure therapy may be beneficial and safe.

  10. Role of left ventricular twist mechanics in cardiomyopathies, dance of the helices

    Institute of Scientific and Technical Information of China (English)

    Floris; Kauer; Marcel; Leonard; Geleijnse; Bastiaan; Martijn; van; Dalen

    2015-01-01

    Left ventricular twist is an essential part of left ventricular function. Nevertheless, knowledge is limited in "the cardiology community" as it comes to twist mechanics. Fortunately the development of speckle tracking echocardiography, allowing accurate, reproducible and rapid bedside assessment of left ventricular twist, has boosted the interest in this important mechanical aspect of left ventricular deformation. Although the fundamental physiological role of left ventricular twist is undisputable, the clinical relevance of assessment of left ventricular twist in cardiomyopathies still needs to be established. The fact remains; analysis of left ventricular twist mechanics has already provided substantial pathophysiological understanding on a comprehensive variety of cardiomyopathies. It has become clear that increased left ventricular twist in for example hypertrophic cardiomyopathy may be an early sign of subendocardial(microvascular) dysfunction. Furthermore, decreased left ventricular twist may be caused by left ventricular dilatation or an extensive myocardial scar. Finally, the detection of left ventricular rigid body rotation in noncompaction cardiomyopathy may provide an indispensible method to objectively confirm this difficult diagnosis. All this endorses the value of left ventricular twist in the field of cardiomyopathies and may further encourage the implementation of left ventricular twist parameters in the "diagnostic toolbox" for cardiomyopathies.

  11. INFLUENCE OF COMPLETENESS HEART REVASCULARIZATION ON A FUNCTIONAL CONDITION OF MYOCARDIUM AT ISCHEMIC CARDIOMYOPATHY

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    V. V. Chestukhin

    2013-01-01

    Full Text Available The aim of this study was to define influence of completeness heart revascularization on a functional condition of myocardium at ischemic cardiomyopathy. Materials and methods. 61 men and 5 women aged from 46 till 73 years with the diagnosis an ischemic cardiomyopathy were investigated before and after coronary angioplasty (EDV LV – 256,1 ± 7,4 ml, EF LV – 36,1 ± 1,1%. 46 patients had at receipt CHF with NYHA functional class 4, 20 – CHF with NYHA functional class 3. Functional status (6-minute walking test – 109,7 ± 20,5 m. Chronic total occlusion was the major type of coronary artery disease (92 of 176 epicardial branches. By means of echocardiography and quantitative gated SPECT estimated dynamics of systolic and diastolic function, change of perfusion, thickening and myocardial movement. Results. The full revascularization managed to be executed to 32 patients, incomplete – to 34 patients (34 occluded arteries didn't manage to be opened. In the whole group the 6-minute walking test incre- ased to 268,2 ± 19,9 m (p < 0,001, EF LV grew to 39,9±1,1% (p < 0,01 due to reduction of end systolic volume, degree of mitral regurgitation decreased from 1,6 ± 0,1 to 1,2 ± 0,1 (p < 0,007, pulmonary artery pressure decreased from 39,1 ± 1,7 to 32,1 ± 1,2 mm Hg (p < 0,01. Distinctions in dynamics of the main functional indicators between groups of complete and incomplete revascularization it isn't revealed. The factor of expressiveness of collateral blood flow in the region of occluded arteries probably compensates violation of an antegrade blood flow and defines a myocardial condition. Conclusion. The volume of myocardial revascularization at patients with ischemic cardio- myopathy isn't defining factor in a clinical condition of them after executed percutaneous coronary intervention. 

  12. Mid-ventricular obstructive hypertrophic cardiomyopathy with apical aneurysm and sustained ventricular tachycardia: a case report and literature review

    Institute of Scientific and Technical Information of China (English)

    GAO Xiao-jin; KANG Lian-ming; ZHANG Jian; DOU Ke-fei; YUAN Jian-song; YANG Yue-jin

    2011-01-01

    The case is a 54-year-old man with hypertrophic cardiomyopathy, mid-ventricular obstruction, apical aneurysm, and recurrence sustained monomorphic ventricular tachycardia (VT). A coronary angiogram revealed myocardial bridging located in the middle of the left anterior descending coronary artery (LAD), and the left ventriculogram showed an hour-glass appearance of the left ventricular cavity. There was a significant pressure gradient of 60 mmHg across the mid-ventricular obliteration at rest. A successful myectomy of the inappropriate hypertrophy myocardium and excision of the apical aneurysm were performed. Pathologic analysis demonstrated fibrosis in the apical aneurysm and thickened and narrowed vessels in the adjacent area. During the follow-up of eighteen months, the patient remained clinically stable and free from arrhythmic recurrence.

  13. 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.

  14. 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.

  15. Insights into restrictive cardiomyopathy from clinical and animal studies

    Institute of Scientific and Technical Information of China (English)

    Pierre-Yves Jean-Charles; Yue-Jin Li; Chang-Long Nan; Xu-Pei Huang

    2011-01-01

    Catdiomyopathies are diseases that primarily affect the myocardium,leading to serious cardiac dysfimction and heart failure.Out of the three major categories of candiomyopathies(hypertrophic,dilated and restrictive),restrictive cardiomyopathy(RCM)is less common and also the least studied However,the prognosis for RCM is poor as some patients dying in their childhood The molecular mechanisms behind the disease development and progression are not very clear and the treatment of RCM is very difficult and often ineffective.In this article,we reviewed the recent progress in RCM research from the clinical studies and the translational studies done on diseased transgenic animal models.This will help for a better understanding of tare mechanisms underlying the etiology and development of RCM and for the design of better treatments for the disease.

  16. Advanced quantitative echocardiography in arrhythmogenic right ventricular cardiomyopathy

    DEFF Research Database (Denmark)

    Kjaergaard, Jesper; Hastrup Svendsen, Jesper; Sogaard, Peter

    2007-01-01

    BACKGROUND: Arrhythmogenic right ventricular (RV) cardiomyopathy (ARVC) is a regional disease of the RV myocardium with variable degrees of left ventricular involvement. Three-dimensional echocardiography and Doppler tissue imaging (DTI) are new echocardiographic modalities for the evaluation...... of global and regional function, but the diagnostic potential remains to be assessed. METHODS: Twenty patients with previously established ARVC were evaluated by 3-dimensional echocardiography and DTI, and compared with 32 age- and sex-matched control subjects. RESULTS: Using 3-dimensional echocardiography...... showed decreased regional systolic strain, but with wide variation in the measurements. CONCLUSION: Three-dimensional echocardiography identifies decreased RV ejection fraction in ARVC. Assessment of regional contractility by DTI is limited by wide variation. Echocardiographic evaluation...

  17. Defining the molecular genetic basis of idiopathic dilated cardiomyopathy.

    Science.gov (United States)

    Olson, T M; Keating, M T

    1997-02-01

    Dilated cardiomyopathy (DCM) is a significant health care problem. The etiology is idiopathic in approximately half of the patients. Recognition that 20%-25% of idiopathic DCM cases are familial has advanced the hypothesis that single gene defects are important in the disease's pathogenesis. General linkage analyses in rare, large DCM families have determined the chromosome location of five idiopathic DCM genes. Candidate-gene mutational analyses in more typical, small pedigrees represent an alternative strategy for DCM gene identification. Human molecular genetics will play a fundamental role in defining pathogenic mechanisms for DCM with the prospect of new, molecular-based diagnostic and therapeutic approaches. (Trends Cardiovasc Med 1997;7:60-63). © 1997, Elsevier Science Inc.

  18. Evidence for a possible calcium flux dependent cardiomyopathy in hyperthyroidism

    Energy Technology Data Exchange (ETDEWEB)

    Barat, J.L.; Wicker, P.; Manley, W.; Brendel, A.J.; Lefort, G.; San Galli, F.; Commenges-Ducos, M.; Latapie, J.L.; Riviere, J.; Ducassou, D.

    1985-05-01

    This study was designed to test the hypothesis that the impaired functional cardiac reserve to exercise in hyperthyroidism is related to alterations in the regulation of calcium transport. In 2l hyperthyroid patients, the left ventricular ejection fraction (LVEF) was measured using equilibrium gated radionuclide angiocardiography at rest and during supine dynamic exercise. After a recovery period, the patients performed a second exercise study after random administration of Verapamil, a calcium entry blocker (11 pts), or propanolol, a beta adrenergic antagonist (10 pts) for comparison. The results showed i) normal resting LVEF with no significant change during exercise before any medication, ii) resting LVEF significantly decreased after Propanolol, and no significantly changed after Verapamil, iii) during exercise, significant increase of LVEF after Verapamil, and no significant change after Propanolol. These results are consistent with previous studies showing that abnormal change in LVEF during exercise in hyperthyroidism seems independent of beta adrenergic activation, and suggest a reversible functional cardiomyopathy dependent of calcium transporting systems.

  19. Lethal Cardiomyopathy in Mice Lacking Transferrin Receptor in the Heart

    Directory of Open Access Journals (Sweden)

    Wenjing Xu

    2015-10-01

    Full Text Available Both iron overload and iron deficiency have been associated with cardiomyopathy and heart failure, but cardiac iron utilization is incompletely understood. We hypothesized that the transferrin receptor (Tfr1 might play a role in cardiac iron uptake and used gene targeting to examine the role of Tfr1 in vivo. Surprisingly, we found that decreased iron, due to inactivation of Tfr1, was associated with severe cardiac consequences. Mice lacking Tfr1 in the heart died in the second week of life and had cardiomegaly, poor cardiac function, failure of mitochondrial respiration, and ineffective mitophagy. The phenotype could only be rescued by aggressive iron therapy, but it was ameliorated by administration of nicotinamide riboside, an NAD precursor. Our findings underscore the importance of both Tfr1 and iron in the heart, and may inform therapy for patients with heart failure.

  20. PERIPARTUM CARDIOMYOPATHY IN INTENSIVE CARE UNIT:AN UPDATE

    Directory of Open Access Journals (Sweden)

    Vesna eDinic

    2015-11-01

    Full Text Available Peripartum cardiomyopathy (PPCM is a systolic heart failure that occurs during the last month of pregnancy or within five months after delivery. It is uncommon disease of unknown ethiopatogenesis and very high rate of maternal mortality. Because of similarity between symptoms of PPCM and physiological discomforts during pregnancy, the early diagnosis of PPCM presents a major challenge. Since hemodynamic changes during PPCM can vitally jeopardise the mother and the fetus, patients with severe forms of PPCM require a multidisciplinary approach in intensive care units. This review summarize the current state of knowledge about the diagnosis, monitoring, and the treatment of PPCM. Having reviewed the recent researches it gives insight into the new treatment strategies of this rare disease.

  1. A rare case of peripartum cardiomyopathy posted for caesarean section

    Directory of Open Access Journals (Sweden)

    Nalini Kotekar

    2007-01-01

    Full Text Available Post Partum Cardiomyopathy (PPCM is a relatively rare form of heart failure associated with pregnancy. It was recognized first in the 19th century by Ritchie and is defined as the onset of acute heart failure in the last trimester or early post partum period in the absence of infections, metabolic, toxic, ischaemic or valvular causes of myocardial dysfunction. Prognosis depends on the degree of cardiomegaly at presentation and in the following 6 months. Initial high risk period carries a mortality of 25 to 50%. Keeping in mind the reduced contractility and ejection fraction with ventricular dilatation proceeding to cardiac failure, the anesthesiologist managing a case of PPCM faces the challenge of avoiding myocardial depression, hypovolemia and increased SVR, all of which may be hazardous

  2. Serum selenium and ceruloplasmin in nigerians with peripartum cardiomyopathy.

    Science.gov (United States)

    Karaye, Kamilu M; Yahaya, Isah A; Lindmark, Krister; Henein, Michael Y

    2015-04-07

    The study aimed to determine if selenium deficiency, serum ceruloplasmin and traditional birth practices are risk factors for peripartum cardiomyopathy (PPCM), in Kano, Nigeria. This is a case-control study carried out in three hospitals, and PPCM patients were followed up for six months. Critically low serum selenium concentration was defined as 0.05). Logistic regression showed that rural residency significantly increased the odds for serum selenium <70 µg/L by 2.773-fold (p = 0.037). Baseline serum levels of selenium and ceruloplasmin were not associated with six-month mortality. This study has shown that selenium deficiency is a risk factor for PPCM in Kano, Nigeria, and is related to rural residency. However, serum ceruloplasmin, customary birth practices and some other characteristics were not associated with PPCM in the study area.

  3. Hypertrophic cardiomyopathy: a heart in need of an energy bar?

    Directory of Open Access Journals (Sweden)

    Styliani eVakrou

    2014-08-01

    Full Text Available Hypertrophic cardiomyopathy (HCM has been recently recognized as the most common inherited cardiovascular disorder, affecting 1 in 500 adults worldwide. HCM is characterized by myocyte hypertrophy resulting in thickening of the ventricular wall, myocyte disarray, interstitial and/or replacement fibrosis, decreased ventricular cavity volume and diastolic dysfunction. HCM is also the most common cause of sudden death in the young. A large proportion of patients diagnosed with HCM have mutations in sarcomeric proteins. However, it is unclear how these mutations lead to the cardiac phenotype, which is variable even in patients carrying the same causal mutation. Abnormalities in calcium cycling, oxidative stress, mitochondrial dysfunction and energetic deficiency have been described, constituting the basis of therapies in experimental models of HCM and HCM patients. This review focuses on evidence supporting the role of cellular metabolism and mitochondria in HCM.

  4. Physiology and pathophysiology of iron cardiomyopathy in thalassemia.

    Science.gov (United States)

    Wood, John C; Enriquez, Cathleen; Ghugre, Nilesh; Otto-Duessel, Maya; Aguilar, Michelle; Nelson, Marvin D; Moats, Rex; Coates, Thomas D

    2005-01-01

    Iron cardiomyopathy remains the leading cause of death in patients with thalassemia major. Magnetic resonance imaging (MRI) is ideally suited for monitoring thalassemia patients because it can detect cardiac and liver iron burdens as well as accurately measure left ventricular dimensions and function. However, patients with thalassemia have unique physiology that alters their normative data. In this article, we review the physiology and pathophysiology of thalassemic heart disease as well as the use of MRI to monitor it. Despite regular transfusions, thalassemia major patients have larger ventricular volumes, higher cardiac outputs, and lower total vascular resistances than published data for healthy control subjects; these hemodynamic findings are consistent with chronic anemia. Cardiac iron overload increases the relative risk of further dilation, arrhythmias, and decreased systolic function. However, many patients are asymptomatic despite heavy cardiac burdens. We explore possible mechanisms behind cardiac iron-function relationships and relate these mechanisms to clinical observations.

  5. Lethal Cardiomyopathy in Mice Lacking Transferrin Receptor in the Heart.

    Science.gov (United States)

    Xu, Wenjing; Barrientos, Tomasa; Mao, Lan; Rockman, Howard A; Sauve, Anthony A; Andrews, Nancy C

    2015-10-20

    Both iron overload and iron deficiency have been associated with cardiomyopathy and heart failure, but cardiac iron utilization is incompletely understood. We hypothesized that the transferrin receptor (Tfr1) might play a role in cardiac iron uptake and used gene targeting to examine the role of Tfr1 in vivo. Surprisingly, we found that decreased iron, due to inactivation of Tfr1, was associated with severe cardiac consequences. Mice lacking Tfr1 in the heart died in the second week of life and had cardiomegaly, poor cardiac function, failure of mitochondrial respiration, and ineffective mitophagy. The phenotype could only be rescued by aggressive iron therapy, but it was ameliorated by administration of nicotinamide riboside, an NAD precursor. Our findings underscore the importance of both Tfr1 and iron in the heart, and may inform therapy for patients with heart failure.

  6. Selective serotonin-norepinephrine reuptake inhibitors-induced Takotsubo cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Rahul Vasudev

    2016-01-01

    Full Text Available Context: Takotsubo translates to "octopus pot" in Japanese. Takotsubo cardiomyopathy (TTC is characterized by a transient regional systolic dysfunction of the left ventricle. Catecholamine excess is the one most studied and favored theories explaining the pathophysiology of TTC. Case Report: We present the case of a 52-year-old Hispanic female admitted for venlafaxine-induced TTC with a review literature on all the cases of Serotonin-norepinephrine reuptake inhibitors (SNRI-associated TTC published so far. Conclusion: SNRI inhibit the reuptake of catecholamines into the presynaptic neuron, resulting in a net gain in the concentration of epinephrine and serotonin in the neuronal synapses and causing iatrogenic catecholamine excess, ultimately leading to TTC.

  7. Clinical utility of natriuretic peptides and troponins in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Kehl, Devin W; Buttan, Anshu; Siegel, Robert J; Rader, Florian

    2016-09-01

    The diagnosis of hypertrophic cardiomyopathy (HCM) is based on clinical, echocardiographic and in some cases genetic findings. However, prognostication remains limited except in the subset of patients with high-risk indicators for sudden cardiac death. Additional methods are needed for risk stratification and to guide clinical management in HCM. We reviewed the available data regarding natriuretic peptides and troponins in HCM. Plasma levels of natriuretic peptides, and to a lesser extent serum levels of troponins, correlate with established disease markers, including left ventricular thickness, symptom status, and left ventricular hemodynamics by Doppler measurements. As a reflection of left ventricular filling pressure, natriuretic peptides may provide an objective measure of the efficacy of a specific therapy. Both natriuretic peptides and troponins predict clinical risk in HCM independently of established risk factors, and their prognostic power is additive. Routine measurement of biomarker levels therefore may be useful in the clinical evaluation and management of patients with HCM.

  8. Molecular mechanisms of peripartum cardiomyopathy: A vascular/hormonal hypothesis.

    Science.gov (United States)

    Bello, Natalie A; Arany, Zoltan

    2015-08-01

    Peripartum cardiomyopathy (PPCM) is characterized by the development of systolic heart failure in the last month of pregnancy or within the first 5 months postpartum. The disease affects between 1:300 and 1:3000 births worldwide. Heart failure can resolve spontaneously but often does not. Mortality rates, like incidence, vary widely based on location, ranging from 0% to 25%. The consequences of PPCM are thus often devastating for an otherwise healthy young woman and her newborn. The cause of PPCM remains elusive. Numerous hypotheses have been proposed, with mixed supporting evidence. Recent work has suggested that PPCM is a vascular disease, triggered by the profound hormonal changes of late gestation. We focus here on these new mechanistic findings, and their potential implication for understanding and treating PPCM.

  9. Viral Myocarditis and Dilated Cardiomyopathy: Etiology and Pathogenesis.

    Science.gov (United States)

    Huber, Sally A

    2016-01-01

    Myocarditis is an inflammation of the myocardium which often follows microbial infections and is a significant cause of sudden unexpected death in the young (myocarditis and has been found to be of limited value in lymphocytic myocarditis. The relatively limited response might reflect the need for host immunity to control persistent virus infection in the heart which may be the predominant cause of the chronic myocarditis and dilated cardiomyopathy. Treating the persistent virus infection with interferon-beta improved cardiac function in a clinical trial. However, classic immunosuppressive drugs, such as cyclosporine A and cyclophosphamide, are not effective against all types of immunity and experimental myocarditis models have shown that certain immunopathogenic forms of the disease are resistant to these immunosuppressive agents. Understanding the molecular mechanisms underlying the pathogenesis of this disease and the various infectious agents which can cause it will be essential for developing effective therapeutic agents.

  10. Pathomorphological Changes of the Myocardium in Canine Dilated Cardiomyopathy (DCM

    Directory of Open Access Journals (Sweden)

    Janus Izabela

    2015-04-01

    Full Text Available The study was conducted on ventricular and atrial wall preparations from 11 dogs with clinically diagnosed dilated cardiomyopathy. After fixation, the specimens were stained with haematoxylin and eosin and Masson-Goldner trichrome technique. Parenchymal changes (fibrosis and fatty infiltration, vascular changes (congestion and coronary vessel wall hypertrophy, degenerative changes (loss of striation, changes in cardiomycyte and nuclei structure, and presence of inflammatory infiltrates (mononuclear and polynuclear were estimated. Complex histological changes in both ventricular and atrial muscles were shown. It was not determined whether the processes occurring in the myocardium have a primary character, or are a consequence of developing heart failure. Such issues will be put under further and more detailed examination.

  11. 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...

  12. Atypical transient stress-induced cardiomyopathies with an inverted Takotsubo pattern in sepsis and in the postpartal state.

    Science.gov (United States)

    Lee, Sahng; Lee, Kyung Jin; Yoon, Hyeon Soo; Kang, Ki-Woon; Lee, Young Sook; Lee, Jun Wan

    2010-01-01

    Several cases of inverted Takotsubo cardiomyopathy--a variant form with hyperdynamic left ventricular apex and akinesia of the left ventricular base and mid-portion--have been reported recently, especially in association with cerebrovascular accidents and catecholamine cardiomyopathies. Herein, we describe 2 cases of inverted Takotsubo cardiomyopathy: one that occurred in a middle-aged woman who had a septic condition, and another in a young woman who was in the postpartal state. Such cases have not been reported previously.

  13. De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.

    Science.gov (United States)

    Klauke, Baerbel; Kossmann, Sabine; Gaertner, Anna; Brand, Kristina; Stork, Ines; Brodehl, Andreas; Dieding, Mareike; Walhorn, Volker; Anselmetti, Dario; Gerdes, Désirée; Bohms, Birte; Schulz, Uwe; Zu Knyphausen, Edzard; Vorgerd, Matthias; Gummert, Jan; Milting, Hendrik

    2010-12-01

    Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease, frequently accompanied by sudden cardiac death and terminal heart failure. Genotyping of ARVC patients might be used for palliative treatment of the affected family. We genotyped a cohort of 22 ARVC patients referred to molecular genetic screening in our heart center for mutations in the desmosomal candidate genes JUP, DSG2, DSC2, DSP and PKP2 known to be associated with ARVC. In 43% of the cohort, we found disease-associated sequence variants. In addition, we screened for desmin mutations and found a novel desmin-mutation p.N116S in a patient with ARVC and terminal heart failure, which is located in segment 1A of the desmin rod domain. The mutation leads to the aggresome formation in cardiac and skeletal muscle without signs of an overt clinical myopathy. Cardiac aggresomes appear to be prominent, especially in the right ventricle of the heart. Viscosimetry and atomic force microscopy of the desmin wild-type and N116S mutant isolated from recombinant Escherichia coli revealed severe impairment of the filament formation, which was supported by transfections in SW13 cells. Thus, the gene coding for desmin appears to be a novel ARVC gene, which should be included in molecular genetic screening of ARVC patients.

  14. Viscoelastic behavior of human lamin A proteins in the context of dilated cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    Avinanda Banerjee

    Full Text Available Lamins are intermediate filament proteins of type V constituting a nuclear lamina or filamentous meshwork which lines the nucleoplasmic side of the inner nuclear membrane. This protein mesh provides a supporting scaffold for the nuclear envelope and tethers interphase chromosome to the nuclear periphery. Mutations of mainly A-type lamins are found to be causative for at least 11 human diseases collectively termed as laminopathies majority of which are characterised by aberrant nuclei with altered structural rigidity, deformability and poor mechanotransduction behaviour. But the investigation of viscoelastic behavior of lamin A continues to elude the field. In order to address this problem, we hereby present the very first report on viscoelastic properties of wild type human lamin A and some of its mutants linked with Dilated cardiomyopathy (DCM using quantitative rheological measurements. We observed a dramatic strain-softening effect on lamin A network as an outcome of the strain amplitude sweep measurements which could arise from the large compliance of the quasi-cross-links in the network or that of the lamin A rods. In addition, the drastic stiffening of the differential elastic moduli on superposition of rotational and oscillatory shear stress reflect the increase in the stiffness of the laterally associated lamin A rods. These findings present a preliminary insight into distinct biomechanical properties of wild type lamin A protein and its mutants which in turn revealed interesting differences.

  15. Neonatal Transplantation Confers Maturation of PSC-Derived Cardiomyocytes Conducive to Modeling Cardiomyopathy

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    Gun-Sik Cho

    2017-01-01

    Full Text Available Pluripotent stem cells (PSCs offer unprecedented opportunities for disease modeling and personalized medicine. However, PSC-derived cells exhibit fetal-like characteristics and remain immature in a dish. This has emerged as a major obstacle for their application for late-onset diseases. We previously showed that there is a neonatal arrest of long-term cultured PSC-derived cardiomyocytes (PSC-CMs. Here, we demonstrate that PSC-CMs mature into adult CMs when transplanted into neonatal hearts. PSC-CMs became similar to adult CMs in morphology, structure, and function within a month of transplantation into rats. The similarity was further supported by single-cell RNA-sequencing analysis. Moreover, this in vivo maturation allowed patient-derived PSC-CMs to reveal the disease phenotype of arrhythmogenic right ventricular cardiomyopathy, which manifests predominantly in adults. This study lays a foundation for understanding human CM maturation and pathogenesis and can be instrumental in PSC-based modeling of adult heart diseases.

  16. 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.

  17. 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.

  18. [Hypertrophic cardiomyopathy: a rare cause of vascular dementia. A case report].

    Science.gov (United States)

    Ben Hamouda, Ibtissem; Tougourti, Mohamed Néjib; Hamza, Mohsen

    2002-07-01

    Herein, we report a case of a 51 year old man who experienced three ischemic cerebral infarcts in a time of few months. The patient consulted after the third accident. Neurological presentation included pseudobulbar syndrome with a mild cognitive deficit, aphasia, left hemiparesia, hemiasomatognosia and homonymous lateral hemianopsia. Cerebral tomodensitometry and magnetic resonance imaging evidenced large infarcts images involving right middle cerebral artery territory and bilateral borderline zones in the junction of the territories of the middle and posterior cerebral arteries. Ambulatory 24 hours ECG recording (Holter) revealed two hits of non-sustained ventricular tachycardia. Transoesophageal echocardiography conveyed to the diagnosis of hypertrophic cardiomyopathy and displayed the presence of a left auricular thrombus. Anticoagulant therapy and rehabilitation allowed a substantial recovering of the patient's cognitive functions and wasting of the intracardiac thrombus. The clinical features observed in our patient meet the recommended DSM IV diagnosis criteria of vascular dementia, an exceptional complication of HCM. The clinical findings, neuroimagery investigation results, and the chronological link between cerebral attacks and cognitive function deterioration argue for a demential syndrome of vascular origin resulting from multiple embolic infarcts involving medium sized arteries (multi-infarct dementia). The authors emphasize the rarity of such observation. HCM must be considered as a potential cause of embolic stroke and likewise a multi-infarct dementia.

  19. 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)

  20. A new era in clinical genetic testing for hypertrophic cardiomyopathy.

    Science.gov (United States)

    Wheeler, Matthew; Pavlovic, Aleksandra; DeGoma, Emil; Salisbury, Heidi; Brown, Colleen; Ashley, Euan A

    2009-12-01

    Building on seminal studies of the last 20 years, genetic testing for hypertrophic cardiomyopathy (HCM) has become a clinical reality in the form of targeted exonic sequencing of known disease-causing genes. This has been driven primarily by the decreasing cost of sequencing, but the high profile of genome-wide association studies, the launch of direct-to-consumer genetic testing, and new legislative protection have also played important roles. In the clinical management of hypertrophic cardiomyopathy, genetic testing is primarily used for family screening. An increasing role is recognized, however, in diagnostic settings: in the differential diagnosis of HCM; in the differentiation of HCM from hypertensive or athlete's heart; and more rarely in preimplantation genetic diagnosis. Aside from diagnostic clarification and family screening, use of the genetic test for guiding therapy remains controversial, with data currently too limited to derive a reliable mutation risk prediction from within the phenotypic noise of different modifying genomes. Meanwhile, the power of genetic testing derives from the confidence with which a mutation can be called present or absent in a given individual. This confidence contrasts with our more limited ability to judge the significance of mutations for which co-segregation has not been demonstrated. These variants of "unknown" significance represent the greatest challenge to the wider adoption of genetic testing in HCM. Looking forward, next-generation sequencing technologies promise to revolutionize the current approach as whole genome sequencing will soon be available for the cost of today's targeted panel. In summary, our future will be characterized not by lack of genetic information but by our ability to effectively parse it.

  1. Arrhythmogenic right ventricular cardiomyopathy a still underrecognized clinic entity.

    Science.gov (United States)

    Thiene, G; Basso, C; Danieli, G; Rampazzo, A; Corrado, D; Nava, A

    1997-04-01

    Arrhythmogenic right ventricular cardiomyopathy is a new morbid entity that was discovered thanks to the study of sudden death in the young. This heart muscle disease is characterized by myocardial atrophy, mostly of the right ventricle, with massive fibro-fatty infiltration, accounting for ventricular electrical instability at risk of severe arrhythmias and even cardiac arrest. The disease was found to be the major cause of sudden death in young people and athletes in the Veneto Region, Italy. A familial occurrence with autosomal dominant transmission was then discovered, and the prevalence was estimated to be higher than 1 in 5000. The disease is genetically heterogeneous: Linkage analysis, carried out in a large family with recurrence of sudden deaths, led to map the gene to chromosome 14q23-q24. Linkage analysis in a second family allowed mapping of another gene to chromosome 1q42-q43. Clinical diagnosis can be achieved through electrocardiography, echocardiography, angiocardiography, magnetic resonance imaging, and endomyocardial biopsy. Diagnostic criteria have been put forward by a committee of the International Society and Federation of Cardiology. The disease was recently included among the cardiomyopathies in the revised World Health Organization (WHO) classification. Study of the natural history allowed us to distinguish (a) a covert phase in apparently normal subjects who have a risk of abrupt electrical instability and sudden death, (b) an overt arrhythmic phase with palpitations and impending cardiac arrest, (c) congestive heart failure with pump depression, sometimes so severe as to require heart transplantation. Both the etiology and pathogenesis of the disease are unknown. In particular, the mechanisms leading to progressive loss of myocardium and fibro-fatty replacement are still speculative. Apoptosis in the right ventricle occurring not only in infancy, as in the normal heart, but also in childhood and adulthood might account for the progressive

  2. [A clinical study of hypertrophic obstructive cardiomyopathy in the elderly].

    Science.gov (United States)

    Chida, K; Ohkawa, S; Maeda, S; Kuboki, K; Imai, T; Sakai, M; Watanabe, C; Matsushita, S; Ueda, K; Kuramoto, K

    1990-09-01

    Seven elderly patients with hypertrophic obstructive cardiomyopathy (HOCM), who had the three following characteristics on echocardiograms 1) extremely thickened septum, 2) systolic anterior motion of the mitral valve, 3) mid systolic semi-closure of the aortic valve, were clinically evaluated. Ages ranged from 73 to 86 years old (average 78.9% yr.) and all were women. None had not a family history of hypertrophic cardiomyopathy but they had mild hypertension. Six patients showed a significant high voltage on the ST-segment and T-wave abnormalities ("strain" pattern). The left ventricular posterior wall as well as the septum was thickened in 5 and the remaining 2 showed asymmetrical septal hypertrophy (ASH) on echocardiograms. The left ventricular cavity was narrowed due to left ventricular hypertrophy and the shape of the left ventricular cavity was ovoid in all patients. The aorto-septal angles in these 7 patients were 80 degrees to 120 degrees. In addition, proximal septal bulge in all and anterior displacement of the mitral posterior leaflet due to the mitral ring calcification (MRC) in some patients contributed to the narrowing of the left ventricular outflow tract, and the mitral valve was pulled up toward the septum because of the good left ventricular systolic function (ejection fraction: 70 to 94% by echocardiography) and blood was ejected at a high velocity through a narrowed outflow tract (Venturi effect). Pressure gradients in the left ventricular outflow tract was 38 to 146 mmHg in 5 examined by cardiac catheterization. Biopsy specimens were obtained from 2 patients, showing hypertrophic myocytes (diameter: 20 to 30 micron) in 2 and mild disarray in 1.(ABSTRACT TRUNCATED AT 250 WORDS)

  3. Magnetic resonance imaging of dilated cardiomyopathy; MRT bei dilatativen Kardiomyopathien

    Energy Technology Data Exchange (ETDEWEB)

    D' Anastasi, M. [Klinikum der Ludwig-Maximilians-Universitaet Muenchen, Campus Grosshadern, Institut fuer Klinische Radiologie, Muenchen (Germany); Greif, M. [Klinikum der Ludwig-Maximilians-Universitaet Muenchen, Campus Grosshadern, Medizinische Klinik und Poliklinik I, Muenchen (Germany); 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)

    2013-01-15

    Dilated cardiomyopathy (DCM) is the most common type of cardiomyopathy with a prevalence of 1 out of 2,500 in adults. Due to mild clinical symptoms in the early phase of the disease, the true prevalence is probably even much higher. Patients present with variable clinical symptoms ranging from mild systolic impairment of left ventricular function to congestive heart failure. Even sudden cardiac death may be the first clinical symptom of DCM. The severity of the disease is defined by the degree of impairment of global left ventricular function. Arrhythmias, such as ventricular or supraventricular tachycardia, atrioventricular (AV) block, ventricular extrasystole and atrial fibrillation are common cardiac manifestations of DCM. Magnetic resonance imaging (MRI) plays an important role in the exact quantification of functional impairment of both ventricles and in the evaluation of regional wall motion abnormalities. With its excellent ability for the assessment of myocardial structure, it is becoming increasingly more important for risk stratification and therapy guidance. (orig.) [German] Die dilatative Kardiomyopathie (DCM) ist die haeufigste Form der Kardiomyopathie mit einer Praevalenz von 1/2500 Erwachsenen. Aufgrund der zunaechst milden klinischen Symptomatik ist jedoch von einer relativ hohen Dunkelziffer auszugehen. Die klinische Praesentation ist variabel, die Schwere der Erkrankung wird vom Ausmass der systolischen Funktionseinschraenkung bestimmt. Herzrhythmusstoerungen, wie ventrikulaere oder supraventrikulaere Tachykardien, AV-Blockierungen, ventrikulaere Extrasystolen und Vorhofflimmern sind moegliche klinische Manifestationen. Bei manchen Patienten ist der ploetzliche Herztod die erste klinische Manifestation der Erkrankung. Die kardiale MRT spielt eine bedeutende Rolle fuer die Beurteilung des Ausmasses der ventrikulaeren Dilatation, Dysfunktion und fuer die Beurteilung regionaler Wandbewegungsstoerungen. Darueber hinaus kann sie zur Anwendung kommen

  4. A case of juvenile acromegaly that was initially diagnosed as severe congestive heart failure from acromegaly-induced dilated cardiomyopathy.

    Science.gov (United States)

    Sue, Mariko; Yoshihara, Aya; Okubo, Yoichiro; Ishikawa, Mayumi; Ando, Yasuyo; Hiroi, Naoki; Shibuya, Kazutoshi; Yoshino, Gen

    2010-01-01

    Acromegaly is characterized by chronic hypersecretion of growth hormone (GH) and is associated with increased mortality rate because of the potential complications such as cardiovascular disease, respiratory disease, or malignancy, which are probably caused by the long-term exposure of tissues to excess GH, for at least 10 years, before diagnosis and treatment. A 22-year-old man with a 2-month history of fatigue was admitted to our hospital because of chest discomfort, dyspnea, and pitting edema of the lower limbs experienced over a 1-month period. On admission, his height and body weight were 186 cm and 138.5 kg, respectively, with a BMI of 39.8 kg/m(2). He showed acromegalic features and elevated serum GH and IGF-1 levels, which were 11.5 ng/mL and 960 ng/mL, respectively. There was no GH suppression in the 75-g oral glucose tolerance test. Pituitary magnetic resonance imaging (MRI) revealed microadenoma. Chest X-ray revealed cardiomegaly, and echocardiogram showed dilated left ventricular (LV) cavity and diffuse hypokinesis with extremely decreased ejection fraction (EF). He was diagnosed as having acromegaly with congestive heart failure from diastolic cardiomyopathy. After the successful transsphenoidal resection of the pituitary adenoma, the level of GH was normalized. However, the cardiac dysfunction did not show any improvement even after the administration of β-blockers, angiotensin-converting enzyme inhibitor (ACE-I), or diuretics. The patient was re-hospitalized, and he died of cardiac failure at the age of 25 years. Patients with acromegaly have been reported to have about 30% higher mortality rate, and cardiovascular disease accounts for 60% of the deaths. We report a case of a patient with juvenile acromegaly who was diagnosed with severe cardiac failure at the time of diagnosis and failed to recover cardiac function even after the successful resection of the pituitary adenoma. Immediate diagnosis and treatment are required for better control of

  5. Rupture of Right Ventricular Free Wall Following Ventricular Septal Rupture in Takotsubo Cardiomyopathy with Right Ventricular Involvement.

    Science.gov (United States)

    Sung, June Min; Hong, Sung Jin; Chung, In Hyun; Lee, Hye Young; Lee, Jae Hoon; Kim, Hyun Jung; Byun, Young Sup; Kim, Byung Ok; Rhee, Kun Joo

    2017-01-01

    Most patients diagnosed with takotsubo cardiomyopathies are expected to almost completely recover, and their prognosis is excellent. However, complications can occur in the acute phase. We present a case of a woman with takotsubo cardiomyopathy with right ventricular involvement who developed a rupture of the right ventricular free wall following ventricular septal rupture, as a consequence of an acute increase in right ventricular afterload by left-to-right shunt. Our case report illustrates that takotsubo cardiomyopathy can be life threatening in the acute phase. Ventricular septal rupture in biventricular takotsubo cardiomyopathy may be a harbinger of cardiac tamponade by right ventricular rupture.

  6. ENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC)

    Science.gov (United States)

    2016-10-11

    Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC); Amyloidosis, Hereditary; Amyloid Neuropathies, Familial; Amyloid Neuropathies; Amyloidosis, Hereditary, Transthyretin-Related; Familial Transthyretin Cardiac Amyloidosis

  7. Left ventricular outflow track obstruction and mitral valve regurgitation in a patient with takotsubo cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Yin Wu

    2015-12-01

    Full Text Available Introduction: Takotsubo cardiomyopathy (TCM can be complicated by left ventricular outflow tract (LVOT obstruction and severe acute mitral regurgitation (MR, leading to hemodynamic instability in an otherwise benign disorder. Despite the severity of these complications, there is a paucity of literature on the matter. Because up to 20–25% of TCM patients develop LVOT obstruction and/or MR, it is important to recognize the clinical manifestations of these complications and to adhere to specific management in order to reduce patient morbidity and mortality. We report the clinical history, imaging, treatment strategy, and clinical outcome of a patient with TCM that was complicated with severe MR and LVOT obstruction. We then discuss the pathophysiology, characteristic imaging, key clinical features, and current treatment strategy for this unique patient population. Case report: A postmenopausal woman with no clear risk factor for coronary artery disease (CAD presented to the emergency department with chest pain after an episode of mental/physical stress. Physical examination revealed MR, mild hypotension, and pulmonary vascular congestion. Her troponins were mildly elevated. Cardiac catheterization excluded obstructive CAD, but revealed severe apical hypokinesia and ballooning. Notably, multiple diagnostic tests revealed the presence of severe acute MR and LVOT obstruction. The patient was diagnosed with TCM complicated by underlying MR and LVOT obstruction, and mild hemodynamic instability. The mechanism of her LVOT and MR was attributed to systolic anterior motion of the mitral valve (SAM, which the transesophageal echocardiogram clearly showed during workup. She was treated with beta-blocker, aspirin, and ACE-I with good outcome. Nitroglycerin and inotropes were discontinued and further avoided. Conclusions: Our case illustrated LVOT obstruction and MR associated with underlying SAM in a patient with TCM. LVOT obstruction and MR are severe

  8. The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Mezghani, Najla [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia); Mnif, Mouna [Service d' endocrinologie, C.H.U. Habib Bourguiba de Sfax (Tunisia); Mkaouar-Rebai, Emna, E-mail: emna_mkaouar@mail2world.com [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia); Kallel, Nozha [Service d' endocrinologie, C.H.U. Habib Bourguiba de Sfax (Tunisia); Salem, Ikhlass Haj [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia); Charfi, Nadia; Abid, Mohamed [Service d' endocrinologie, C.H.U. Habib Bourguiba de Sfax (Tunisia); Fakhfakh, Faiza [Laboratoire de Genetique Moleculaire Humaine, Faculte de Medecine de Sfax, Universite de Sfax (Tunisia)

    2011-07-29

    Highlights: {yields} We reported a patient with Wolfram syndrome and dilated cardiomyopathy. {yields} We detected the ND1 mitochondrial m.3337G>A mutation in 3 tested tissues (blood leukocytes, buccal mucosa and skeletal muscle). {yields} Long-range PCR amplification revealed the presence of multiple mitochondrial deletions in the skeletal muscle. {yields} The deletions remove several tRNA and protein-coding genes. -- Abstract: Wolfram syndrome (WFS) is a rare hereditary disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). It is a heterogeneous disease and full characterization of all clinical and biological features of this disorder is difficult. The wide spectrum of clinical expression, affecting several organs and tissues, and the similarity in phenotype between patients with Wolfram syndrome and those with certain types of respiratory chain diseases suggests mitochondrial DNA (mtDNA) involvement in Wolfram syndrome patients. We report a Tunisian patient with clinical features of moderate Wolfram syndrome including diabetes, dilated cardiomyopathy and neurological complications. The results showed the presence of the mitochondrial ND1 m.3337G>A mutation in almost homoplasmic form in 3 tested tissues of the proband (blood leukocytes, buccal mucosa and skeletal muscle). In addition, the long-range PCR amplifications revealed the presence of multiple deletions of the mitochondrial DNA extracted from the patient's skeletal muscle removing several tRNA and protein-coding genes. Our study reported a Tunisian patient with clinical features of moderate Wolfram syndrome associated with cardiomyopathy, in whom we detected the ND1 m.3337G>A mutation with mitochondrial multiple deletions.

  9. Effects of valsartan on diabetic cardiomyopathy in rats with type 2 diabetes mellitus

    Institute of Scientific and Technical Information of China (English)

    YANG Zhong-hua; PENG Xiao-dong

    2010-01-01

    Background The development of diabetic cardiomyopathy is multifactorial. Insulin resistance (IR) and excessive activity of the renin-angiotensin system are confirmed reasons for diabetic cardiomyopathy. Renin-angiotensin system (RAS) inhibitors can reduce tissue Ang Ⅱ levels, with beneficial effects on cardiovascular function. Therefore, in type-2diabetes mellitus (T2DM), blockade of the RAS may have the function of protecting against diabetic cardiomyopathy through increasing insulin sensitivity and inhibiting excessive activity of RAS. However, this has not been confirmed.Methods The effect of valsartan, an angiotensin receptor blocker (ARB), on diabetic cardiomyopathy in the presence of T2DM was studied. Wistar rats with T2DM and T2DM treated with valsartan were studied. Glucose infusion rates (GIR),index of IR, heart weight, the heart weight-to-body weight ratio (HW/BW), myocardial apoptotic index, cardiac hydroxyprolin content, and cardiac tissue collagen type Ⅰ and collagen type Ⅲ content were measured.Results GIR in T2DM rats and T2DM rats treated with valsartan decreased (P <0.01). In T2DM rats treated with valsartan, heart weight, myocardial apoptotic index, cardiac hydroxyprolin content, and cardiac tissue collagen type Ⅰ and collagen type Ⅲ content were higher than in control rats, but lower than in T2DM rats. In rats with T2DM, GIR was negatively and significantly correlated with all the variables. However, in T2DM rats treated with valsartan or normal control rats, none of the correlations was significant.Conclusions In the presence of T2DM, diabetic cardiomyopathy is related with IR. Valsartan can not alleviate IR, but can protect against diabetic cardiomyopathy and remove the correlation between IR and diabetic cardiomyopathy.

  10. Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies

    Science.gov (United States)

    Frisso, Giulia; Detta, Nicola; Coppola, Pamela; Mazzaccara, Cristina; Pricolo, Maria Rosaria; D’Onofrio, Antonio; Limongelli, Giuseppe; Calabrò, Raffaele; Salvatore, Francesco

    2016-01-01

    Point mutations are the most common cause of inherited diseases. Bioinformatics tools can help to predict the pathogenicity of mutations found during genetic screening, but they may work less well in determining the effect of point mutations in non-coding regions. In silico analysis of intronic variants can reveal their impact on the splicing process, but the consequence of a given substitution is generally not predictable. The aim of this study was to functionally test five intronic variants (MYBPC3-c.506-2A>C, MYBPC3-c.906-7G>T, MYBPC3-c.2308+3G>C, SCN5A-c.393-5C>A, and ACTC1-c.617-7T>C) found in five patients affected by inherited cardiomyopathies in the attempt to verify their pathogenic role. Analysis of the MYBPC3-c.506-2A>C mutation in mRNA from the peripheral blood of one of the patients affected by hypertrophic cardiac myopathy revealed the loss of the canonical splice site and the use of an alternative splicing site, which caused the loss of the first seven nucleotides of exon 5 (MYBPC3-G169AfsX14). In the other four patients, we generated minigene constructs and transfected them in HEK-293 cells. This minigene approach showed that MYBPC3-c.2308+3G>C and SCN5A-c.393-5C>A altered pre-mRNA processing, thus resulting in the skipping of one exon. No alterations were found in either MYBPC3-c.906-7G>T or ACTC1-c.617-7T>C. In conclusion, functional in vitro analysis of the effects of potential splicing mutations can confirm or otherwise the putative pathogenicity of non-coding mutations, and thus help to guide the patient's clinical management and improve genetic counseling in affected families. PMID:27834932

  11. High prevalence of Arginine to Glutamine Substitution at 98, 141 and 162 positions in Troponin I (TNNI3 associated with hypertrophic cardiomyopathy among Indians

    Directory of Open Access Journals (Sweden)

    Rani Deepa

    2012-08-01

    Full Text Available Abstract Background Troponin I (TNNI3 is the inhibitory subunit of the thin filament regulatory complex Troponin, which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. Mutations (2-7% in this gene had been reported in hypertrophic cardiomyopathy patients (HCM. However, the frequencies of mutations and associated clinical presentation have not been established in cardiomyopathy patients of Indian origin, hence we have undertaken this study. Methods We have sequenced all the exons, including the exon-intron boundaries of TNNI3 gene in 101 hypertrophic cardiomyopathy patients (HCM, along with 160 healthy controls, inhabited in the same geographical region of southern India. Results Our study revealed a total of 16 mutations. Interestingly, we have observed Arginine to Glutamine (R to Q mutation at 3 positions 98, 141 and 162, exclusively in HCM patients with family history of sudden cardiac death. The novel R98Q was observed in a severe hypertrophic obstructive cardiomyopathy patient (HOCM. The R141Q mutation was observed in two familial cases of severe asymmetric septal hypertrophy (ASH++. The R162Q mutation was observed in a ASH++ patient with mean septal thickness of 29 mm, and have also consists of allelic heterogeneity by means of having one more synonymous (E179E mutation at g.4797: G → A: in the same exon 7, which replaces a very frequent codon (GAG: 85% with a rare codon (GAA: 14%. Screening for R162Q mutation in all the available family members revealed its presence in 9 individuals, including 7 with allelic heterogeneity (R162Q and E179E of which 4 were severely affected. We also found 2 novel SNPs, (g.2653; G → A and g.4003 C → T exclusively in HCM, and in silico analysis of these SNPs have predicted to cause defect in recognition/binding sites for proteins responsible for proper splicing. Conclusion Our study has provided valuable information regarding the prevalence of TNNI3 mutations in

  12. Influence of Mechanical Circulatory Support on Endothelin Receptor Expression in Human Left Ventricular Myocardium from Patients with Dilated Cardiomyopathy (DCM)

    Science.gov (United States)

    Gärtner, Florian; Abraham, Getu; Kassner, Astrid; Baurichter, Daniela; Milting, Hendrik

    2017-01-01

    Background In terminal failing hearts ventricular assist devices (VAD) are implanted as a bridge to transplantation. Endothelin receptor (ETR) antagonists are used for treatment of secondary pulmonary hypertension in VAD patients. However, the cardiac ETR regulation in human heart failure and during VAD support is incompletely understood. Methods In paired left ventricular samples of 12 dilated cardiomyopathy patients we investigated the density of endothelin A (ETA) and B (ETB) receptors before VAD implantation and after device removal. Left ventricular samples of 12 non-failing donor hearts served as control. Receptor quantification was performed by binding of [125I]-ET-1 in the presence of nonselective and ETA selective ETR ligands as competitors. Additionally, the ETR mRNA expression was analyzed using quantitative real-time-PCR. Results The mRNA of ETA but not ETB receptors was significantly elevated in heart failure, whereas total ETR density analyzed by radioligand binding was significantly reduced due to ETB receptor down regulation. ETA and ETB receptor density showed poor correlation to mRNA data (spearman correlation factor: 0.43 and 0.31, respectively). VAD support had no significant impact on the density of both receptors and on mRNA expression of ETA whereas ETB mRNA increased during VAD. A meta-analysis reveals that the ETA receptor regulation in human heart failure appears to depend on non-failing hearts. Conclusions In deteriorating hearts of patients suffering from dilated cardiomyopathy the ETA receptor density is not changed whereas the ETB receptor is down regulated. The mRNA and the proteins of ETA and ETB show a weak correlation. Non-failing hearts might influence the interpretation of ETA receptor regulation. Mechanical unloading of the failing hearts has no impact on the myocardial ETR density. PMID:28095452

  13. Relationship of basal-septal fibrosis with LV outflow tract obstruction in hypertrophic cardiomyopathy: insights from cardiac magnetic resonance analysis.

    Science.gov (United States)

    Nakamura, Takashi; Iwanaga, Yoshitaka; Yasuda, Masakazu; Kawamura, Takayuki; Miyaji, Yuki; Morooka, Hanako; Miyazaki, Shunichi

    2016-04-01

    Myocardial fibrosis is frequently observed and may be associated with the prognosis in patients with hypertrophic cardiomyopathy (HCM); however, the clinical pathophysiological features, particularly in terms of fibrosis, of hypertrophic obstructive cardiomyopathy (HOCM) remain unclear. This study aimed to determine a role of local fibrosis in HOCM using cardiac magnetic resonance (CMR). 108 consecutive HCM patients underwent CMR. HOCM was defined as a left ventricular outflow tract (LVOT) pressure gradient ≥30 mmHg at rest. Myocardial mass and fibrosis mass by late gadolinium-enhancement CMR (LGE-CMR) were calculated and the distribution/pattern was analyzed using the AHA 17-segment model. LV ejection fraction (LVEF) was significantly higher in patients with HOCM (n = 19) than in those with nonobstructive HCM (n = 89) (P < 0.05). Both total myocardial and fibrosis masses in LV were similar in the two groups (P = 0.385 and P = 0.859, respectively). However, fibrosis in the basal septum was significantly less frequent in the HOCM group than in the nonobstructive HCM group (P < 0.01). The LVOT pressure gradient was significantly higher in the basal-septal non-fibrosis group than in the fibrosis group (23.6 ± 37.3 vs. 4.8 ± 11.4 mmHg, P < 0.01). Multivariate analysis revealed that basal-septal fibrosis was an independent negative predictor of LVOT obstruction in addition to the local wall thickness and LVEF as positive predictors in HCM patients. In conclusion, a significant association was observed between LVOT obstruction and basal septal fibrosis by LGE-CMR in HCM patients. In addition to negative impact of basal-septal fibrosis, basal-septal hypertrophy and preserved global LV contractility may be associated with the pathophysiological features of LVOT obstruction.

  14. MELAS syndrome and cardiomyopathy: linking mitochondrial function to heart failure pathogenesis.

    Science.gov (United States)

    Hsu, Ying-Han R; Yogasundaram, Haran; Parajuli, Nirmal; Valtuille, Lucas; Sergi, Consolato; Oudit, Gavin Y

    2016-01-01

    Heart failure remains an important clinical burden, and mitochondrial dysfunction plays a key role in its pathogenesis. The heart has a high metabolic demand, and mitochondrial function is a key determinant of myocardial performance. In mitochondrial disorders, hypertrophic remodeling is the early pattern of cardiomyopathy with progression to dilated cardiomyopathy, conduction defects and ventricular pre-excitation occurring in a significant proportion of patients. Cardiac dysfunction occurs in approximately a third of patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, a stereotypical example of a mitochondrial disorder leading to a cardiomyopathy. We performed unique comparative ultrastructural and gene expression in a MELAS heart compared with non-failing controls. Our results showed a remarkable increase in mitochondrial inclusions and increased abnormal mitochondria in MELAS cardiomyopathy coupled with variable sarcomere thickening, heterogeneous distribution of affected cardiomyocytes and a greater elevation in the expression of disease markers. Investigation and management of patients with mitochondrial cardiomyopathy should follow the well-described contemporary heart failure clinical practice guidelines and include an important role of medical and device therapies. Directed metabolic therapy is lacking, but current research strategies are dedicated toward improving mitochondrial function in patients with mitochondrial disorders.

  15. Takotsubo cardiomyopathy precipitated by negative pressure pulmonary oedema following total thyroidectomy

    Directory of Open Access Journals (Sweden)

    K S Bharathi

    2016-01-01

    Full Text Available 'Takotsubo cardiomyopathy (TCM' or 'stress cardiomyopathy' is a reversible cardiomyopathy that is precipitated by intense emotional or physical stress. This syndrome is characterised by symptoms mimicking acute coronary syndrome with transient systolic dysfunction associated with regional wall motion abnormalities, which extend beyond a single coronary vascular bed in the absence of obstructive coronary vascular disease. The presentation of TCM and myocardial infarction is similar with sudden onset of chest pain, breathlessness as well as abnormalities in both the electrocardiogram and cardiac enzymes. It is difficult to differentiate between the two until cardiac catheterisation establishes the diagnosis. We report a case of TCM in a post-menopausal female, precipitated by negative pressure pulmonary oedema following total thyroidectomy in whom timely cardiac catheterisation established the diagnosis and influenced the management. Heightened awareness of this unique cardiomyopathy is essential to have a high index of suspicion in at-risk population for the prompt diagnosis of stress-related cardiomyopathy syndromes occurring in the perioperative period.

  16. Postoperative takotsubo cardiomyopathy: an illustration of the electrocardiographic features that raise suspicion for takotsubo.

    Science.gov (United States)

    Omar, Hesham R; Fairbairn, James; Abdelmalak, Hany D; Delibasic, Maja; Camporesi, Enrico M

    2013-10-21

    Takotsubo cardiomyopathy is an increasingly recognized clinical disorder mimicking acute coronary syndrome. It is usually preceded by physical or emotional stress and recovery of the left ventricular systolic function occurs in most cases within 1-4 weeks. Takotsubo cardiomypathy can masquerade as ST-segment elevation myocardial infarction when chest pain, ST-segment elevation, and high cardiac biomarkers coexist. ST-segment elevation is encountered in approximately half of the cases of takotsubo cardiomyopathy and its pattern is indistinguishable at times from ST-segment elevation myocardial infarction. However, several electrocardiographic criteria have been shown to characterize takotsubo cardiomyopathy. Awareness of these electrocardiographic features has several diagnostic and therapeutic implications. Nevertheless, these electrocardiographic criteria alone cannot reliably differentiate between both entities, and the diagnosis of takotsubo cardiomyopathy is only established after coronary angiography confirms the absence of occlusive coronary artery disease and the characteristic apical ballooning is evident on left ventriculogram (in the case of the apical form). Herein, we present a case of postoperative takotsubo cardiomyopathy and discuss the various electrocardiographic features that raise suspicion for this transient cardiac syndrome.

  17. Biventricular Failure due to Stress Cardiomyopathy after Pericardiectomy for Constrictive Pericarditis

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    Elliott M. Groves

    2013-01-01

    Full Text Available Importance. Constrictive pericarditis is a rare clinical entity that frequently necessitates surgical intervention. Here we present a case of biventricular failure due to stress cardiomyopathy after pericardiectomy. This is an extremely rare complication that is not well described and does not have a definitive mechanism. Observations. A 40-year-old Ecuadorian woman who was found to have constrictive pericarditis due to Mycobacterium tuberculosis infection was referred to our institution. The presence of constrictive pericarditis was confirmed by echocardiography, computed tomography, magnetic resonance imaging, and cardiac catheterization. Following pericardiectomy, the patient developed biventricular failure consistent with stress cardiomyopathy (Takotsubo cardiomyopathy, based on the echocardiographic assessment of the ventricles, which demonstrated an akinetic apex and hyperactive base in both ventricles, the absence of significant epicardial coronary atherosclerosis, and prompt normalization of the cardiac function after intensive medical therapy. Conclusions and Relevance. Biventricular failure in the form of stress cardiomyopathy after pericardiectomy in the manner presented here has not been previously described in the literature. While postulations as to the cause of single ventricle dysfunction have been described, the exact mechanism is unclear and current theories do not explain the clinical features in this case of stress cardiomyopathy after pericardiectomy.

  18. Animal and in silico models for the study of sarcomeric cardiomyopathies.

    Science.gov (United States)

    Duncker, Dirk J; Bakkers, Jeroen; Brundel, Bianca J; Robbins, Jeff; Tardiff, Jil C; Carrier, Lucie

    2015-04-01

    Over the past decade, our understanding of cardiomyopathies has improved dramatically, due to improvements in screening and detection of gene defects in the human genome as well as a variety of novel animal models (mouse, zebrafish, and drosophila) and in silico computational models. These novel experimental tools have created a platform that is highly complementary to the naturally occurring cardiomyopathies in cats and dogs that had been available for some time. A fully integrative approach, which incorporates all these modalities, is likely required for significant steps forward in understanding the molecular underpinnings and pathogenesis of cardiomyopathies. Finally, novel technologies, including CRISPR/Cas9, which have already been proved to work in zebrafish, are currently being employed to engineer sarcomeric cardiomyopathy in larger animals, including pigs and non-human primates. In the mouse, the increased speed with which these techniques can be employed to engineer precise 'knock-in' models that previously took years to make via multiple rounds of homologous recombination-based gene targeting promises multiple and precise models of human cardiac disease for future study. Such novel genetically engineered animal models recapitulating human sarcomeric protein defects will help bridging the gap to translate therapeutic targets from small animal and in silico models to the human patient with sarcomeric cardiomyopathy.

  19. ASSESSMENT OF DIASTOLIC FUNCTION IN PATIENTS WITH HYPERTROPHIC CARDIOMYOPATHY BY DOPPLER TISSUE IMAGING

    Institute of Scientific and Technical Information of China (English)

    Jing Li; Yan-ling Liu; Hao Wang; Xiu-zhang Lü; Hong-chang Yang; Fu-jian Duan; Zhen-hui Zhu

    2004-01-01

    Objective To determine the clinical application of pulsed Doppler tissue imaging in assessing the left ventricular diastolic function and in discriminating between normal subjects and patients with hypertrophic cardiomyopathy with various stages of diastolic dysfunction.Methods We measured the peak diastolic velocities of mitral annulus in 81 patients with hypertrophic cardiomyopathy with various stages of diastolic dysfunction and 50 normal volunteers by Doppler tissue imaging using the apical window at 2-chamber and long apical views, respectively. The myocardial velocities were determined with use of variance F statistical analysis.Results Early diastolic myocardial velocities ofmitral annulus were higher in normal subjects than in patients with hypertrophic cardiomyopathy with either delayed relaxation, pseudonormal filling, or restrictive filling. However, peak myocardial velocities of mitral annulus during atrial contraction were similar in normal subjects and patients with hypertrophic cardiomyopathy.Conclusion Doppler tissue imaging can directly reflect upon left diastolic ventricular function. Early phase of diastole was the best discriminator between control subjects and patients with hypertrophic cardiomyopathy.

  20. Acute dilated cardiomyopathy in a patient with beriberi and cryoglobulinaemic vasculitis: an unusual potential complication of two rare disorders.

    Science.gov (United States)

    Tejedor, Ana; Solé, Manel; Prieto-González, Sergio; Alba, Marco Antonio; Grau, Josep Maria; Cid, Maria Cinta; Hernández-Rodríguez, José

    2014-01-01

    We report the case of a 45-year-old patient who presented with acute dilated cardiomyopathy. During admission the patient was consecutively diagnosed with cryoglobulinaemic vasculitis and beriberi. In both diseases, cardiac involvement may occur as dilated cardiomyopathy. Thiamin deficiency was the final cause for the severe cardiac manifestations (cardiac acute beriberi or Shoshin syndrome), which returned to normal after thiamin supplementation.

  1. Combined sciatic femoral nerve block in a case of restrictive cardiomyopathy for arthroscopy and anterior cruciate ligament (ACL reconstruction

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    Gaurab Maitra

    2007-01-01

    Full Text Available Restrictive cardiomyopathy is a rare heart muscle disease resulting in impaired ventricular filling, low cardiac output and a propensity for development of heart failure with minimal fluid overload. Here, we present the management of a case of restrictive cardiomyopathy undergoing arthroscopy and anterior cruciate liga-ment (ACL reconstruction.

  2. CLINICAL AND MORPHOLOGICAL APPROACH TO DIAGNOSIS OF "IDIOPATHIC" ARRHYTHMIAS AND DILATED CARDIOMYOPATHY SYNDROME AS A BASIS FOR DIFFERENTIATED THERAPY. Part I (Diagnostics

    Directory of Open Access Journals (Sweden)

    O. V. Blagova

    2014-01-01

    Full Text Available PAim. To develop a comprehensive clinical and morphological approach to the nosological diagnosis and treatment of "idiopathic" arrhythmias (IA and the syndrome of dilated cardiomyopathy (DCM.Material and methods. Patients (n=320 with IA (n=190; 117 women, age 45.3±14.8 years and DCM (n=130, 41 women, age 46.9±12.5 years were included in the main group. 51 people (patients with ischemic heart disease; heart valve disease, hypertrophic cardiomyopathy, who underwent open-heart surgery; healthy volunteers were included in the control group. Along with the standard tests evaluation of the level of anti-heart antibodies (185 patients with IA and 122 with DCM, viral serology (166 and 122, multispiral computed tomography (42 and 88, cardiac magnetic resonance imaging (41 and 22, coronary angiography (19 and 54, myocardial biopsy/autopsy (19/0 and 33/9 were performed.Results. According to morphological study infectious-immune myocarditis was found in 78.9% of IA and 66.7% of DCM-patients, arrhythmogenic right ventricular dysplasia in 5.3% and 4.8% of patients, respectively. Other genetic cardiomyopathies, including combination with myocarditis were revealed in other patients. The frequency  of the viral genome detection in the myocardium in IA, DCM and the control group was 17.6%, 66.7% and 77.1%, respectively. However in the control group the incidence of myocarditis and anti-heart antibodies titers were significantly lower, while in the main group a strong correlation between myocarditis and anti-heart antibodies titers was found. The algorithm of noninvasive nosological diagnostics was developed; it allowed to verify diagnosis in 95% of IA patients and 89% DCM patients.Conclusion. Nosological cause of IA and DCM syndrome can be diagnosed in most patients by using an integrated clinical and morphological approach.

  3. CLINICAL AND MORPHOLOGICAL APPROACH TO DIAGNOSIS OF "IDIOPATHIC" ARRHYTHMIAS AND DILATED CARDIOMYOPATHY SYNDROME AS A BASIS FOR DIFFERENTIATED THERAPY. Part I (Diagnostics

    Directory of Open Access Journals (Sweden)

    O. V. Blagova

    2015-09-01

    Full Text Available PAim. To develop a comprehensive clinical and morphological approach to the nosological diagnosis and treatment of "idiopathic" arrhythmias (IA and the syndrome of dilated cardiomyopathy (DCM.Material and methods. Patients (n=320 with IA (n=190; 117 women, age 45.3±14.8 years and DCM (n=130, 41 women, age 46.9±12.5 years were included in the main group. 51 people (patients with ischemic heart disease; heart valve disease, hypertrophic cardiomyopathy, who underwent open-heart surgery; healthy volunteers were included in the control group. Along with the standard tests evaluation of the level of anti-heart antibodies (185 patients with IA and 122 with DCM, viral serology (166 and 122, multispiral computed tomography (42 and 88, cardiac magnetic resonance imaging (41 and 22, coronary angiography (19 and 54, myocardial biopsy/autopsy (19/0 and 33/9 were performed.Results. According to morphological study infectious-immune myocarditis was found in 78.9% of IA and 66.7% of DCM-patients, arrhythmogenic right ventricular dysplasia in 5.3% and 4.8% of patients, respectively. Other genetic cardiomyopathies, including combination with myocarditis were revealed in other patients. The frequency  of the viral genome detection in the myocardium in IA, DCM and the control group was 17.6%, 66.7% and 77.1%, respectively. However in the control group the incidence of myocarditis and anti-heart antibodies titers were significantly lower, while in the main group a strong correlation between myocarditis and anti-heart antibodies titers was found. The algorithm of noninvasive nosological diagnostics was developed; it allowed to verify diagnosis in 95% of IA patients and 89% DCM patients.Conclusion. Nosological cause of IA and DCM syndrome can be diagnosed in most patients by using an integrated clinical and morphological approach.

  4. First case of atypical takotsubo cardiomyopathy in a bilateral lung-transplanted patient due to acute respiratory failure.

    Science.gov (United States)

    Ghadri, Jelena R; Bataisou, Roxana D; Diekmann, Johanna; Lüscher, Thomas F; Templin, Christian

    2015-10-01

    Takotsubo cardiomyopathy which is characterised by a transient left ventricular wall motion abnormality was first described in 1990. The disease is still not well known, and as such it is suggested that an emotional trigger is mandatory in this disease. We present the case of a 51-year old female patient seven years after bilateral lung transplantation, who developed acute respiratory distress syndrome and subsequently suffered from atypical takotsubo cardiomyopathy with transient severe reduction of ejection fraction and haemodynamic instability needing acute intensive care treatment. Acute respiratory failure has emerged as an important physical trigger factor in takotsubo cardiomyopathy. Little is known about the association of hypoxia and takotsubo cardiomyopathy which can elicit a life-threatening condition requiring acute intensive care. Therefore, experimental studies are needed to investigate the role of hypoxia in takotsubo cardiomyopathy.

  5. Hypertrophic cardiomyopathy--state of the art in 2007.

    Science.gov (United States)

    Monteiro, Silvia; Costa, Susana; Monteiro, Pedro; Gonçalves, Lino; Providência, Luís A

    2008-05-01

    Hypertrophic cardiomyopathy (HCM) is a primary disease of the sarcomere, with considerable genetic heterogeneity and variability in phenotypic expression, whose main complication is sudden cardiac death (SCD). Genetic aspects of HCM, its molecular pathophysiology and genotype-phenotype relationships are the subject of this review, which is aimed at better understanding of practical management in this patient population. As HCM is a genetic disease whose initial manifestation can be sudden death, it is essential to establish the diagnosis at an early stage, to proceed with risk stratification and implementation of SCD prevention strategies, and to promote genetic counseling of patients and screening of their families. Detection of pathological mutations through progressive sequencing of the genes most commonly involved is the most efficient way to diagnose HCM, even in the absence of clinical evidence of the disease. Identification of individuals at high risk of SCD is a major challenge in the management of this population, since SCD can be prevented by use of an implantable cardioverter-defibrillator. The selection of patients for prophylactic implantation of these devices, particularly those who have only one major risk factor, is currently the subject of controversy.

  6. Genetic engineering and therapy for inherited and acquired cardiomyopathies.

    Science.gov (United States)

    Day, Sharlene; Davis, Jennifer; Westfall, Margaret; Metzger, Joseph

    2006-10-01

    The cardiac myofilaments consist of a highly ordered assembly of proteins that collectively generate force in a calcium-dependent manner. Defects in myofilament function and its regulation have been implicated in various forms of acquired and inherited human heart disease. For example, during cardiac ischemia, cardiac myocyte contractile performance is dramatically downregulated due in part to a reduced sensitivity of the myofilaments to calcium under acidic pH conditions. Over the last several years, the thin filament regulatory protein, troponin I, has been identified as an important mediator of this response. Mutations in troponin I and other sarcomere genes are also linked to several distinct inherited cardiomyopathic phenotypes, including hypertrophic, dilated, and restrictive cardiomyopathies. With the cardiac sarcomere emerging as a central player for such a diverse array of human heart diseases, genetic-based strategies that target the myofilament will likely have broad therapeutic potential. The development of safe vector systems for efficient gene delivery will be a critical hurdle to overcome before these types of therapies can be successfully applied. Nonetheless, studies focusing on the principles of acute genetic engineering of the sarcomere hold value as they lay the essential foundation on which to build potential gene-based therapies for heart disease.

  7. Arrhythmogenic right ventricular cardiomyopathy--time for Nordic cooperation!

    Science.gov (United States)

    Gjesdal, Knut

    2008-12-01

    This editorial discusses arrhythmogenic right ventricular cardiomyopathy (ARVC) with respect to diagnosis and organisation of patient care. Two papers in the current issue are commented upon. Aneq and coworkers present a long-term echocardiographic study on ARVC patients. Baseline changes were seldom diagnostic, but over years, changes in right ventricular structure and function occurred; the most consistent being increasing diameter of the right ventricular outflow tract. Haapalaita and coworkers used body surface ECG, comparing right and left ventricular types of ECG. The duration of electrical systole (QT-end) and the dispersion of the action potentials (QT peak-end) was longer in the right-sided compared to the left-sided leads in ARVC, at variance from in healthy controls, and the shortening effect of autonomic manoeuvres that activate sympathetic tone, was much more marked on the right side, compatible with the tendency of arrhythmias to occur under stress. An initiative to create a Nordic registry on ARVC has come from Denmark. This is highly welcomed; our individual institutions are too small to gain the experience needed for optimal patient care.

  8. Clinical characteristics of Takotsubo cardiomyopathy in North America

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    Saeed Ahmed

    2013-01-01

    Full Text Available Background: Takotsubo cardiomyopathy (TC or transient left ventricular apical ballooning syndrome is an acute cardiac syndrome characterized by transient wall motion abnormalities extending beyond a single epicardial vessel in the absence of significant obstructive coronary artery disease. Aim: This study was to describe the clinical characteristics of TC in North America. Materials and Methods: We identified 10 patients who met the Mayo Clinic criteria for TC using our Electronic Medical Records. We also conducted a systematic review of case series of TC that were done in North America by searching the MEDLINE database. We identified 11 case series that met our eligibility criteria. Results: Our systematic review included 620 patients. Chest pain and ST segment elevation were the cardinal features of this syndrome, but the prevalence was lower than in the European and Asian cohort (50% and 39% as compared with 80% and 70%, respectively. Classic precipitating emotional or physical stress was described in > 80% of patients. Cardiac biomarkers were found to be elevated in >90% of our patients. Conclusions : TC is a worldwide problem and clinical presentation appears to be similar in North American, European, and Asian countries. However, fewer patients in our cohort presented with typical chest pain and electrocardiography (ECG changes, which might suggest ethnic variations in the syndrome or perhaps a more aggressive diagnostic approach in North American countries.

  9. Hypertrophic cardiomyopathy: from gene defect to clinical disease

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    Major advances have been made over the last decade in our understanding of the molecular basis ofseveral cardiac conditions. Hypertrophic cardiomyopathy (HCM) was the first cardiac disorder in whicha genetic basis was identified and as such, has acted as a paradigm for the study of an inherited cardiacdisorder. HCM can result in clinical symptoms ranging from no symptoms to severe heart failure andpremature sudden death. HCM is the commonest cause of sudden death in those aged less than 35 years,including competitive athletes. At least ten genes have now been identified, defects in which cause HCM.All of these genes encode proteins which comprise the basic contractile unit of the heart, i.e. the sarcomere.While much is now known about which genes cause disease and the various clinical presentations, very littleis known about how these gene defects cause disease, and what factors modify the expression of the mutantgenes. Studies in both cell culture and animal models of HCM are now beginning to shed light on thesignalling pathways involved in HCM, and the role of both environmental and genetic modifying factors.Understanding these mechanisms will ultimately improve our knowledge of the basic biology of heart musclefunction, and will therefore provide new avenues for treating cardiovascular disease in man.

  10. Mechanical circulatory support for patients with peripartum cardiomyopathy.

    Science.gov (United States)

    Lueck, Sabrina; Sindermann, Juergen; Martens, Sven; Scherer, Mirela

    2016-09-01

    Peripartum cardiomyopathy (PPCM) challenges different disciplines including gynecologists, cardiologists and cardiac surgeons. It is a severe cardiac failure occurring at the end of pregnancy or within the first months after delivery. Urgent intervention is necessary to stabilize hemodynamics with appropriate medication and mechanical assist support. Data of 4 patients with PPCM at a mean age of 28.2 years were analyzed retrospectively. Echocardiography was used to evaluate cardiac function. Despite varying courses of PPCM all women received left ventricular assist devices (LVAD) since their hemodynamics could not be stabilized by medical treatment. Mean gestational week at delivery was 31.5 ± 4.9. Left ventricular ejection fractions of all patients were severely impaired (17.8 ± 3.5 %) before LVAD implantations. After long-term mechanical support (282 and 417 days, respectively) 2 patients were successfully transplanted. Two other females could be weaned from LVAD therapy after 944 and 612 days, respectively. LVAD explanations were performed according to a standardized weaning protocol. Myocardial recovery was confirmed by regular echocardiography, spiroergometry and right heart catheterization. Mechanical assist device support is a surgical strategy either as bridge to transplantation or as bridge to recovery for patients with PPCM.

  11. A Change of Heart: Case Series of Peripartum Cardiomyopathy

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    Sean Martin

    2013-01-01

    Full Text Available Peripartum cardiomyopathy (PPCM is an uncommon disease of pregnancy, occurring in about 1 in 2000 live births, and is characterized by the development of heart failure, due to left ventricular systolic dysfunction. It is associated with high rates of maternal and neonatal mortality. Cardiac disease is the leading cause of maternal death in the UK: PPCM accounts for about 17% of these. Clinical findings of decompensated heart failure (HF are often masked by the normal physiological changes seen in pregnancy making the diagnosis challenging. A high index of suspicion is essential—prompting referral for echocardiogram, which is crucial for diagnosis. Favourable prognosis is dependent on the early initiation of HF medications. Although full recovery occurs in around half of cases, left ventricular systolic dysfunction persists in a significant proportion of patients with PPCM and the risk of recurrence in subsequent pregnancies is high. The pathophysiology of PPCM is under intense research. We present four patients with PPCM and a review of the literature. Owing to the diagnostic challenge of PPCM and decompensated HF in pregnant mothers and its high mortality rate without treatment, prompt investigation and referral are key to improving maternal survival.

  12. Gestational Weight Gain and Peripartum Cardiomyopathy in a Twin Pregnancy

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    Hiroko Matsumiya

    2015-01-01

    Full Text Available Preeclamptic twin pregnancy with larger gestational weight gain (GWG is suggested to have a higher risk of peripartum cardiomyopathy (PPCM. This was true in a 5-year experience at a single center. A primiparous woman with twins and prepregnancy weight of 51.0 kg exhibited hypertension at gestational week (GW 32−6/7 and GWG of 18.3 kg (6.0 kg and 2.9 kg during the last four weeks and one week of gestation, resp. concomitant with generalized edema, gave birth at GW 34−4/7, developed proteinuria, cough, and dyspnea postpartum, and was diagnosed with preeclampsia and PPCM showing left ventricular ejection fraction of 34% and plasma BNP level of 1530 pg/mL. This was the only case of PPCM among 101 (12 with preeclampsia and 3266 women with twin and singleton pregnancies, respectively. Thus, PPCM occurred significantly more often in women with preeclamptic twin pregnancies than in women with singleton pregnancies (8.3% [1/12] versus 0.0% [0/3266], P=0.0355. This patient showed the greatest weight gain of 6.0 kg during the last four weeks of gestation and the greatest weight loss of 19.2 kg during one month postpartum among 90 women with twin deliveries at GW ≥ 32.

  13. Diabetic Cardiomyopathy: Does the Type of Diabetes Matter?

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    Maximilian E. Hölscher

    2016-12-01

    Full Text Available In recent years, type 2 diabetes mellitus has evolved as a rapidly increasing epidemic that parallels the increased prevalence of obesity and which markedly increases the risk of cardiovascular disease across the globe. While ischemic heart disease represents the major cause of death in diabetic subjects, diabetic cardiomyopathy (DC summarizes adverse effects of diabetes mellitus on the heart that are independent of coronary artery disease (CAD and hypertension. DC increases the risk of heart failure (HF and may lead to both heart failure with preserved ejection fraction (HFpEF and reduced ejection fraction (HFrEF. Numerous molecular mechanisms have been proposed to underlie DC that partially overlap with mechanisms believed to contribute to heart failure. Nevertheless, the existence of DC remains a topic of controversy, although the clinical relevance of DC is increasingly recognized by scientists and clinicians. In addition, relatively little attention has been attributed to the fact that both underlying mechanisms and clinical features of DC may be partially distinct in type 1 versus type 2 diabetes. In the following review, we will discuss clinical and preclinical literature on the existence of human DC in the context of the two different types of diabetes mellitus.

  14. Diabetic Cardiomyopathy: Does the Type of Diabetes Matter?

    Science.gov (United States)

    Hölscher, Maximilian E.; Bode, Christoph; Bugger, Heiko

    2016-01-01

    In recent years, type 2 diabetes mellitus has evolved as a rapidly increasing epidemic that parallels the increased prevalence of obesity and which markedly increases the risk of cardiovascular disease across the globe. While ischemic heart disease represents the major cause of death in diabetic subjects, diabetic cardiomyopathy (DC) summarizes adverse effects of diabetes mellitus on the heart that are independent of coronary artery disease (CAD) and hypertension. DC increases the risk of heart failure (HF) and may lead to both heart failure with preserved ejection fraction (HFpEF) and reduced ejection fraction (HFrEF). Numerous molecular mechanisms have been proposed to underlie DC that partially overlap with mechanisms believed to contribute to heart failure. Nevertheless, the existence of DC remains a topic of controversy, although the clinical relevance of DC is increasingly recognized by scientists and clinicians. In addition, relatively little attention has been attributed to the fact that both underlying mechanisms and clinical features of DC may be partially distinct in type 1 versus type 2 diabetes. In the following review, we will discuss clinical and preclinical literature on the existence of human DC in the context of the two different types of diabetes mellitus. PMID:27999359

  15. Common susceptibility variants examined for association with dilated cardiomyopathy.

    Science.gov (United States)

    Rampersaud, Evadnie; Kinnamon, Daniel D; Hamilton, Kara; Khuri, Sawsan; Hershberger, Ray E; Martin, Eden R

    2010-03-01

    Rare mutations in more than 20 genes have been suggested to cause dilated cardiomyopathy (DCM), but explain only a small percentage of cases, mainly in familial forms. We hypothesised that more common variants may also play a role in increasing genetic susceptibility to DCM, similar to that observed in other common complex disorders. To test this hypothesis, we performed case-control analyses on all DNA polymorphic variation identified in a resequencing study of six candidate DCM genes (CSRP3, LDB3, MYH7, SCN5A, TCAP, and TNNT2) conducted in 289 unrelated white probands with DCM of unknown cause and 188 unrelated white controls. In univariate analyses, we identified associated common variants at LDB3 site 10779, LDB3 site 57877, MYH7 sites 16384 and 17404, and TCAP sites 140 and 1735. Multivariate analyses to examine the joint effects of multiple gene variants confirmed univariate results for MYH7 and TCAP and identified a block of nine variants in MYH7 that was strongly associated with DCM. Common variants in genes known to be causative of DCM may play a role in genetic susceptibility to DCM. Our results suggest that examination of common genetic variants may be warranted in future studies of DCM and other Mendelian-like disorders.

  16. Genetic heterogeneity of left-ventricular noncompaction cardiomyopathy.

    Science.gov (United States)

    Moric-Janiszewska, Ewa; Markiewicz-Łoskot, Grazyna

    2008-05-01

    Isolated noncompaction of the ventricular myocardium (INVM) sometimes referred to as spongy myocardium is a rare, congenital and also acquired cardiomyopathy. It appears to divide the presentation into neonatal, childhood and adult forms of which spongy myocardium and systolic dysfunction is the commonality. The disorder is characterized by a left ventricular hypertrophy with deep trabeculations, and with diminished systolic function, with or without associated left ventricular dilation. In half or more of the cases, the right ventricle is also affected. The sporadic type, however, in some patients, may be due to chromosomal abnormalities and the occurrence of familial incidence. Isolated noncompaction of the left ventricular myocardium in the majority of adult patients is an autosomal dominant disorder. The familial and X-linked disorders have been described by various authors. We here describe the genetic background of this disorder: some of the most mutated genes that are responsible for the disease are (G4.5 (tafazzin gene): alpha-dystrobrevin gene (DTNA); FKBP-12 gene; lamin A/C gene; Cypher/ZASP (LIM, LDB3) gene); and some genotype-phenotype correlations (Becker muscular dystrophy, Emery-Dreifuss muscular dystrophy or Barth syndrome) based on the literature review.

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

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    Moolman-Smook Johanna C

    2011-10-01

    Full Text Available Abstract Background The gene family KCNE1-5, which encode modulating β-subunits of several repolarising K+-ion channels, has been associated with genetic cardiac diseases such as long QT syndrome, atrial fibrillation and Brugada syndrome. The minK peptide, encoded by KCNE1, is attached to the Z-disc of the sarcomere 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 disease associated with an improper hypertrophic response. Results The coding regions of KCNE1, KCNE2, KCNE3, KCNE4, and KCNE5 were examined, by direct DNA sequencing, in a cohort of 93 unrelated HCM probands and 188 blood donor controls. Fifteen genetic variants, four previously unknown, were identified in the HCM probands. Eight variants were non-synonymous and one was located in the 3'UTR-region of KCNE4. No disease-causing mutations were found and no significant difference in the frequency of genetic variants was found between HCM probands and controls. Two variants of likely functional significance were found in controls only. Conclusions Mutations in KCNE genes are not a common cause of HCM and polymorphisms in these genes do not seem to be associated with a propensity to develop arrhythmia

  18. Serum Selenium and Ceruloplasmin in Nigerians with Peripartum Cardiomyopathy

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    Kamilu M. Karaye

    2015-04-01

    Full Text Available The study aimed to determine if selenium deficiency, serum ceruloplasmin and traditional birth practices are risk factors for peripartum cardiomyopathy (PPCM, in Kano, Nigeria. This is a case-control study carried out in three hospitals, and PPCM patients were followed up for six months. Critically low serum selenium concentration was defined as <70 µg/L. A total of 39 PPCM patients and 50 controls were consecutively recruited after satisfying the inclusion criteria. Mean serum selenium in patients (61.7 ± 14.9 µg/L was significantly lower than in controls (118.4 ± 45.6 µg/L (p < 0.001. The prevalence of serum selenium <70 µg/L was significantly higher among patients (76.9% than controls (22.0% (p < 0.001. The mean ceruloplasmin and prevalence of socio-economic indices, multiparity, pregnancy-induced hypertension, obesity and twin pregnancy were not different between the groups (p > 0.05. Logistic regression showed that rural residency significantly increased the odds for serum selenium <70 µg/L by 2.773-fold (p = 0.037. Baseline serum levels of selenium and ceruloplasmin were not associated with six-month mortality. This study has shown that selenium deficiency is a risk factor for PPCM in Kano, Nigeria, and is related to rural residency. However, serum ceruloplasmin, customary birth practices and some other characteristics were not associated with PPCM in the study area.

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

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    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.

  20. Chemokine receptor CCR5 polymorphisms and Chagas' disease cardiomyopathy.

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    Calzada, J E; Nieto, A; Beraún, Y; Martín, J

    2001-09-01

    In this study we investigated the possible role of two CCR5 gene polymorphisms, CCR5Delta32 deletion and CCR5 59029 A-->G promoter point mutation, in determining the susceptibility to Trypanosoma cruzi infection as well as in the development of chagasic heart disease. These CCR5 polymorphisms were assessed in 85 seropositive (asymptomatic, n=53; cardiomyopathic, n=32) and 87 seronegative individuals. The extremely low frequency (0.009) of the CCR5Delta32 allele in our population did not allow us to analyse its possible influence on T. cruzi infection. We found no differences in the distribution of CCR5 59029 promoter genotype or phenotype frequencies between total chagasic patients and controls. However, we observed that the CCR5 59029-A/G genotype was significantly increased in asymptomatic with respect to cardiomyopathic patients (P=0.02; OR=0.33, 95% CI 0.10-0.94). In addition, the presence of the CCR5 59029-G allele was also increased in asymptomatics when compared with cardiomyopathics (P=0.02; OR=0.35, 95% CI 0.12-0.96). Our data suggest that the CCR5 59029 promoter polymorphism may be involved in a differential susceptibility to chagasic cardiomyopathy.