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Sample records for hypertrophyc cardiomyopathy infrequent

  1. Cardiomyopathy

    Science.gov (United States)

    Cardiomyopathy is the name for diseases of the heart muscle. These diseases enlarge your heart muscle or ... tissue. Some people live long, healthy lives with cardiomyopathy. Some people don't even realize they have ...

  2. Pediatric Cardiomyopathies.

    Science.gov (United States)

    Lee, Teresa M; Hsu, Daphne T; Kantor, Paul; Towbin, Jeffrey A; Ware, Stephanie M; Colan, Steven D; Chung, Wendy K; Jefferies, John L; Rossano, Joseph W; Castleberry, Chesney D; Addonizio, Linda J; Lal, Ashwin K; Lamour, Jacqueline M; Miller, Erin M; Thrush, Philip T; Czachor, Jason D; Razoky, Hiedy; Hill, Ashley; Lipshultz, Steven E

    2017-09-15

    Pediatric cardiomyopathies are rare diseases with an annual incidence of 1.1 to 1.5 per 100 000. Dilated and hypertrophic cardiomyopathies are the most common; restrictive, noncompaction, and mixed cardiomyopathies occur infrequently; and arrhythmogenic right ventricular cardiomyopathy is rare. Pediatric cardiomyopathies can result from coronary artery abnormalities, tachyarrhythmias, exposure to infection or toxins, or secondary to other underlying disorders. Increasingly, the importance of genetic mutations in the pathogenesis of isolated or syndromic pediatric cardiomyopathies is becoming apparent. Pediatric cardiomyopathies often occur in the absence of comorbidities, such as atherosclerosis, hypertension, renal dysfunction, and diabetes mellitus; as a result, they offer insights into the primary pathogenesis of myocardial dysfunction. Large international registries have characterized the epidemiology, cause, and outcomes of pediatric cardiomyopathies. Although adult and pediatric cardiomyopathies have similar morphological and clinical manifestations, their outcomes differ significantly. Within 2 years of presentation, normalization of function occurs in 20% of children with dilated cardiomyopathy, and 40% die or undergo transplantation. Infants with hypertrophic cardiomyopathy have a 2-year mortality of 30%, whereas death is rare in older children. Sudden death is rare. Molecular evidence indicates that gene expression differs between adult and pediatric cardiomyopathies, suggesting that treatment response may differ as well. Clinical trials to support evidence-based treatments and the development of disease-specific therapies for pediatric cardiomyopathies are in their infancy. This compendium summarizes current knowledge of the genetic and molecular origins, clinical course, and outcomes of the most common phenotypic presentations of pediatric cardiomyopathies and highlights key areas where additional research is required. URL: http

  3. What's Cardiomyopathy

    Science.gov (United States)

    Search ABOUT THE DISEASE WHAT'S CARDIOMYOPATHY Cardiomyopathy is a chronic and sometimes progressive disease in which the heart muscle (myocardium), is abnormally enlarged, thickened and/or stiffened. ...

  4. Peripartum cardiomyopathy

    Science.gov (United States)

    ... exercise to help keep your heart strong. Avoid cigarettes and alcohol. Your provider may advise you to avoid getting pregnant again if you have had heart failure during a previous pregnancy. Alternative Names Cardiomyopathy - peripartum; Cardiomyopathy - pregnancy Images Heart, section ...

  5. NNDSS - Table I. infrequently reported notifiable diseases

    Data.gov (United States)

    U.S. Department of Health & Human Services — NNDSS - Table I. infrequently reported notifiable diseases - 2014.In this Table, provisional cases of selected infrequently reported notifiable diseases (<1,000...

  6. NNDSS - Table I. infrequently reported notifiable diseases

    Data.gov (United States)

    U.S. Department of Health & Human Services — NNDSS - Table I. infrequently reported notifiable diseases - 2018. In this Table, provisional cases of selected infrequently reported notifiable diseases (<1,000...

  7. NNDSS - Table I. infrequently reported notifiable diseases

    Data.gov (United States)

    U.S. Department of Health & Human Services — NNDSS - Table I. infrequently reported notifiable diseases - 2015. In this Table, provisional cases of selected infrequently reported notifiable diseases (<1,000...

  8. NNDSS - Table I. infrequently reported notifiable diseases

    Data.gov (United States)

    U.S. Department of Health & Human Services — NNDSS - Table I. infrequently reported notifiable diseases - 2017. In this Table, provisional cases of selected infrequently reported notifiable diseases (<1,000...

  9. NNDSS - Table I. infrequently reported notifiable diseases

    Data.gov (United States)

    U.S. Department of Health & Human Services — NNDSS - Table I. infrequently reported notifiable diseases - 2016. In this Table, provisional* cases of selected†infrequently reported notifiable diseases...

  10. Septic Cardiomyopathy.

    Science.gov (United States)

    Beesley, Sarah J; Weber, Gerhard; Sarge, Todd; Nikravan, Sara; Grissom, Colin K; Lanspa, Michael J; Shahul, Sajid; Brown, Samuel M

    2017-12-08

    To describe, with an emphasis on clinical applications, what is known about the pathophysiology, management, and implications of septic cardiomyopathy in the adult ICU. A PubMed literature review was performed for relevant articles. Only articles in English that studied human adults with sepsis were included. Multiple competing definitions for septic cardiomyopathy hinder understanding of this entity. Although many patients with sepsis develop cardiac dysfunction, the impact of septic cardiomyopathy on prognosis and therapy remains to be demonstrated. Treatment of septic cardiomyopathy is aimed at treating the underlying sepsis and providing specific supportive care for cardiogenic shock when present. Septic cardiomyopathy is an important contributor to organ dysfunction in sepsis. Guided treatment of septic cardiomyopathy may affect patients' prognosis, especially when their cardiac index is substantially decreased. The implication of septic cardiomyopathy for both short- and long-term outcomes is an important area for future investigation.

  11. [Acute silicosis. An infrequent pneumoconiosis].

    Science.gov (United States)

    Méndez-Vargas, María Martha; Soto-de la Fuente, Andrés Eduardo; Soto-Vera, Eduardo Andrés; Leo-Méndez, Rodolfo

    2015-01-01

    Acute Silicosis was first described in 1900 by Betts. It's also denominated as silicoproteinosis. It's an infrequent way of pneumoconiosis which is produced when sandblasting. 27 year old male who has been working for four years in a glass shop, etching them through sandblasting. Four years before with dyspnea on exertion rapidly progressing. Coughing spell, emetic and wheezing, with daily hyaline expectoration of 50 cc, yearly weight loss of 44 lbs and intense chest pain. Breathing rates 36X'. He was polypneic, with basal bilateral crackling rales. Thorax X-rays shows Mengeaux Festoon, right lung apex, rounded opacities between 3 and 10 mm in diameter, type 2/2 r/r in the ILO 2000 Classification. Opacities in the left lung flux to mix into a honeycomb shape type B silicoma. Cardiac silhouette frayed and Grade 1 Cardiomegaly. Dies five years after his condition started. This kind of operations should be prohibited unless an industrial safety program using a Self-Contained Breathing Apparatus (SCBA) is applied.

  12. Cirrhotic cardiomyopathy

    DEFF Research Database (Denmark)

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

    2014-01-01

    Cirrhosis is known to cause alterations in the systemic haemodynamic system. Cirrhotic cardiomyopathy designates a cardiac dysfunction that includes impaired cardiac contractility with systolic and diastolic dysfunction, as well as electromechanical abnormalities in the absence of other known...... biomarkers could improve the diagnostic assessm+ent. Cirrhotic cardiomyopathy contributes to various complications in cirrhosis, especially as an important factor in the development of hepatic nephropathy. Additionally, cirrhotic cardiomyopathy seems to be associated with the development of heart failure...... 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....

  13. Takotsubo cardiomyopathy

    DEFF Research Database (Denmark)

    Nielsen, Lene Hüche; Munk, Kim; Goetzsche, Ole

    2009-01-01

    INTRODUCTION: Sparse information with regard to the electrocardiographic (ECG) changes in Takotsubo cardiomyopathy (TC) is available. The purpose of this study was to describe the clinical characteristics and electrocardiographic changes in a Danish cohort of patients with TC. We discuss the pote......INTRODUCTION: Sparse information with regard to the electrocardiographic (ECG) changes in Takotsubo cardiomyopathy (TC) is available. The purpose of this study was to describe the clinical characteristics and electrocardiographic changes in a Danish cohort of patients with TC. We discuss...

  14. Takotsubo cardiomyopathy.

    Science.gov (United States)

    Sealove, Brett A; Tiyyagura, Satish; Fuster, Valentin

    2008-11-01

    Takotsubo cardiomyopathy is a novel, yet well-described, reversible cardiomyopathy triggered by profound psychological or physical stress with a female predominance. This review is designed to increase general clinician awareness about the diagnosis, incidence, pathogenesis, and therapies of this entity. A complete search of multiple electronic databases (Pubmed, EMBASE, Science Citation Index) was carried out to identify all full-text, English-language articles published from 1980 to the present date and relevant to this review. The following search terms were used: takotsubo cardiomyopathy, stress-induced cardiomyopathy, and left ventricular apical ballooning syndrome. Citation lists from identified articles were subsequently reviewed and pertinent articles were further identified. Takotsubo cardiomyopathy is typically characterized by the following: 1) acute onset of ischemic-like chest pain or dyspnea, 2) transient apical and mid-ventricular regional wall-motion abnormality, 3) minor elevation of cardiac biomarkers, 4) dynamic electrocardiographic changes, and 5) the absence of epicardial coronary artery disease. The pathogenesis of the syndrome is unknown but has mostly been associated with acute emotional or physiologic stressors. Dote, Sato, Tateishi, Uchida, Ishihara (J Cardiol. 21(2):203-214, 1991); Desmet, Adriaenssens, Dens (Heart. 89(9):1027-1031, Sep., 2003); Bybee, Kara, Prasad, et al. (Ann Intern Med. 141(11):858-865, Dec 7, 2004); Sharkey, Lesser, Zenovich, et al. (Circulation. 111(4):472-479, Feb 1, 2005) The short and long-term prognosis of these patients is overwhelmingly favorable and often only requires supportive therapy. Whether an emotional or physical event precedes one's symptoms, it is apparent that takotsubo cardiomyopathy case presentations mimic ST-segment elevation myocardial infarction, and thus is an important entity to be recognized by the medical community.

  15. Takotsubo cardiomyopathy.

    Science.gov (United States)

    Coons, James C; Barnes, Megan; Kusick, Karissa

    2009-03-15

    Takotsubo cardiomyopathy is discussed as an alternative diagnosis to acute coronary syndrome (ACS) for emotionally and physically stressed patients with transient apical akinesis or dyskinesis of the left ventricle (LV) in the absence of coronary artery disease (CAD). The name takotsubo cardiomyopathy refers to the hallmark shape of the LV during initial presentation. The apical portion of the heart balloons out, while the base of the heart has preserved systolic function. It is estimated that 0.5-2% of all patients with ACS symptoms may have takotsubo cardiomyopathy. Symptoms mimic those of a myocardial infarction (MI), and the evaluation of cardiac biomarkers, including troponin, may show a mild increase. Clinical symptoms are generally similar to ACS symptoms. While chest pain and dyspnea are most common, other features, such as cardiogenic shock, are rarer. A case example is described in which a 52-year-old white woman presented herself with complaints of chest pain and shortness of breath. She explained that the chest pain started after an argument with her supervisor. An electrocardiogram showed ST-segment elevation, and the patient was treated for ST-segment elevation MI. A left ventriculogram showed severe apical hypokinesis as well as anterolateral akinesis with a normal anterobasal segment, which led to the diagnosis of takotsubo cardiomyopathy. For patients with complications such as congestive heart failure, standard supportive care for takotsubo cardiomyopathy may include diuretics and vasodilators. In general, vasopressors and inotropes should be avoided because of the association of this syndrome with massive catecholamine release. Takotsubo cardiomyopathy may be an alternative diagnosis to ACS for emotionally and physically stressed patients with transient-apical akinesis or dyskinesis of the LV in the absence of CAD. Because the exact pathophysiology has not been fully elucidated, the optimal management continues to evolve.

  16. Cardiomyopathy in neurological disorders.

    Science.gov (United States)

    Finsterer, Josef; Stöllberger, Claudia; Wahbi, Karim

    2013-01-01

    According to the American Heart Association, cardiomyopathies are classified as primary (solely or predominantly confined to heart muscle), secondary (those showing pathological myocardial involvement as part of a neuromuscular disorder) and those in which cardiomyopathy is the first/predominant manifestation of a neuromuscular disorder. Cardiomyopathies may be further classified as hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, or unclassified cardiomyopathy (noncompaction, Takotsubo-cardiomyopathy). This review focuses on secondary cardiomyopathies and those in which cardiomyopathy is the predominant manifestation of a myopathy. Any of them may cause neurological disease, and any of them may be a manifestation of a neurological disorder. Neurological disease most frequently caused by cardiomyopathies is ischemic stroke, followed by transitory ischemic attack, syncope, or vertigo. Neurological disease, which most frequently manifests with cardiomyopathies are the neuromuscular disorders. Most commonly associated with cardiomyopathies are muscular dystrophies, myofibrillar myopathies, congenital myopathies and metabolic myopathies. Management of neurological disease caused by cardiomyopathies is not at variance from the same neurological disorders due to other causes. Management of secondary cardiomyopathies is not different from that of cardiomyopathies due to other causes either. Patients with neuromuscular disorders require early cardiologic investigations and close follow-ups, patients with cardiomyopathies require neurological investigation and avoidance of muscle toxic medication if a neuromuscular disorder is diagnosed. Which patients with cardiomyopathy profit most from primary stroke prevention is unsolved and requires further investigations. Copyright © 2013 Elsevier Inc. All rights reserved.

  17. Hypertrophic cardiomyopathy.

    Science.gov (United States)

    Santos Mateo, Juan José; Sabater Molina, María; Gimeno Blanes, Juan Ramón

    2017-11-14

    Hypertrophic cardiomyopathy is the most common inherited cardiovascular disease. It is characterized by increased ventricular wall thickness and is highly complex due to its heterogeneous clinical presentation, several phenotypes, large number of associated causal mutations and broad spectrum of complications. It is caused by mutations in sarcomeric proteins, which are identified in up to 60% of cases of the disease. Clinical manifestations of Hypertrophic Cardiomyopathy include shortness of breath, chest pain, palpitations and syncope, which are related to the onset of diastolic dysfunction, left ventricular outflow tract obstruction, ischemia, atrial fibrillation and abnormal vascular responses. It is associated with an increased risk of sudden cardiac death, heart failure and thromboembolic events. In this article, we discuss the diagnostic and therapeutic aspects of this disease. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  18. Alcoholic cardiomyopathy

    OpenAIRE

    Maisch, B.

    2016-01-01

    The individual amount of alcohol consumed acutely or chronically decides on harm or benefit to a person?s health. Available data suggest that one to two drinks in men and one drink in women will benefit the cardiovascular system over time, one drink being 17.6?ml 100?% alcohol. Moderate drinking can reduce the incidence and mortality of coronary artery disease, heart failure, diabetes, ischemic and hemorrhagic stroke. More than this amount can lead to alcoholic cardiomyopathy, which is define...

  19. Arrhythmogenic Cardiomyopathy.

    Science.gov (United States)

    Corrado, Domenico; Basso, Cristina; Judge, Daniel P

    2017-09-15

    Arrhythmogenic cardiomyopathy is an inherited heart muscle disorder, predisposing to sudden cardiac death, particularly in young patients and athletes. Pathological features include loss of myocytes and fibrofatty replacement of right ventricular myocardium; biventricular involvement is often observed. It is a cell-to-cell junction cardiomyopathy, typically caused by genetically determined abnormalities of cardiac desmosomes, which leads to detachment of myocytes and alteration of intracellular signal transduction. The diagnosis of arrhythmogenic cardiomyopathy does not rely on a single gold standard test but is achieved using a scoring system, which encompasses familial and genetic factors, ECG abnormalities, arrhythmias, and structural/functional ventricular alterations. The main goal of treatment is the prevention of sudden cardiac death. Implantable cardioverter defibrillator is the only proven lifesaving therapy; however, it is associated with significant morbidity because of device-related complications and inappropriate implantable cardioverter defibrillator interventions. Selection of patients who are the best candidates for implantable cardioverter defibrillator implantation is one of the most challenging issues in the clinical management. © 2017 American Heart Association, Inc.

  20. Hypertrophic cardiomyopathy.

    Science.gov (United States)

    Subasic, Kim

    2013-12-01

    Hypertrophic cardiomyopathy (HCM) is an autosomal dominant, cardiovascular disorder that carries the risk of sudden cardiac death. The prevalence of HCM is 1:500 persons. The purpose of this article is to provide an overview of the pathophysiology, symptoms, complications, diagnostic testing, and treatment. The silent presentation of HCM presents unique diagnostic challenges and complicates prompt identification. Diagnostic testing and management strategies for the care of a person with HCM are discussed. HCM has individualized presentation and therefore requires individualized therapy. Copyright © 2013 Elsevier Inc. All rights reserved.

  1. [Peripartum cardiomyopathy].

    Science.gov (United States)

    Antohe, Ileana

    2003-01-01

    Peripartum cardiomyopathy (CMP) represents an intriguing and incompletely characterised cause of heart failure arising in women without previously known heart disease during last trimester of pregnancy or first 20 weeks after birth. Fundamental clinical and basic research is lacking regarding this rare but potentially devastating disorder. The article reviews present accepted definition of CMP, epidemiological data, possible etiologic factors and pathogenic mechanisms proposed in CMP. It describes identified risk factors for CMP, clinical symptoms and signs, diagnostic assessment and treatment. Prognosis, follow up criteria and education for patients with previous CMP concerning subsequent pregnancies are also described.

  2. Cardiomyopathies and anaesthesia

    Directory of Open Access Journals (Sweden)

    Rajiv Juneja

    2017-01-01

    Full Text Available Cardiomyopathy is considered as a heart muscle disease of multiple aetiologies, unlike other cardiac diseases related to a definitive pathophysiology. With more and more research and with the advent of genetic analysis pin pointing the disease causing mutations, causative factors have been defined and classifications and definitions have changed over time. Patients with these conditions present to anaesthesiologists in elective and emergency situations, placement of automated internal cardioverter defibrillator (AICD devices or biventricular pacing but may also be diagnosed at anaesthetic pre-assessment. We describe cardiomyopathies such as dilated cardiomyopathy, hypertrophic cardiomyopathy, post-partum cardiomyopathy and Takotsubo cardiomyopathy in brief and their anaesthetic management.

  3. How Is Cardiomyopathy Diagnosed?

    Science.gov (United States)

    ... extra or unusual sounds heard during a heartbeat.) Diagnosis Your doctor will diagnose cardiomyopathy based on your medical and family histories, a ... 03, 2013 | News Release Risk factors identified at diagnosis help predict outcomes for ... Cardiomyopathy ...

  4. Types of Cardiomyopathy

    Science.gov (United States)

    ... extra or unusual sounds heard during a heartbeat.) Diagnosis Your doctor will diagnose cardiomyopathy based on your medical and family histories, a ... 03, 2013 | News Release Risk factors identified at diagnosis help predict outcomes for ... Cardiomyopathy ...

  5. What Is Cardiomyopathy?

    Science.gov (United States)

    ... extra or unusual sounds heard during a heartbeat.) Diagnosis Your doctor will diagnose cardiomyopathy based on your medical and family histories, a ... 03, 2013 | News Release Risk factors identified at diagnosis help predict outcomes for ... Cardiomyopathy ...

  6. How Is Cardiomyopathy Treated?

    Science.gov (United States)

    ... extra or unusual sounds heard during a heartbeat.) Diagnosis Your doctor will diagnose cardiomyopathy based on your medical and family histories, a ... 03, 2013 | News Release Risk factors identified at diagnosis help predict outcomes for ... Cardiomyopathy ...

  7. What Causes Cardiomyopathy?

    Science.gov (United States)

    ... extra or unusual sounds heard during a heartbeat.) Diagnosis Your doctor will diagnose cardiomyopathy based on your medical and family histories, a ... 03, 2013 | News Release Risk factors identified at diagnosis help predict outcomes for ... Cardiomyopathy ...

  8. Living with Cardiomyopathy

    Science.gov (United States)

    ... extra or unusual sounds heard during a heartbeat.) Diagnosis Your doctor will diagnose cardiomyopathy based on your medical and family histories, a ... 03, 2013 | News Release Risk factors identified at diagnosis help predict outcomes for ... Cardiomyopathy ...

  9. Hypertrophic Cardiomyopathy Association

    Science.gov (United States)

    ... organization improving the lives of those with hypertrophic cardiomyopathy, HCM, preventing untimely deaths and advancing global understanding. ... item purchased, 10% will be donated to Hypertrophic Cardiomyopathy Association. iGive.com - Online Shopping Joing iGive.com ...

  10. Rupture of mitral valve chordae in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Boissier, Florence; Achkouty, Guy; Bruneval, Patrick; Fabiani, Jean-Noël; Nguyen, Anh Tuan; Riant, Elisabeth; Desnos, Michel; Hagège, Albert

    2015-04-01

    While occasional reports of mitral valve chordal rupture have been described in hypertrophic cardiomyopathy, the exact prevalence and characteristics of this event in a large medical cohort have not been reported. To assess the prevalence of mitral valve chordal rupture in hypertrophic cardiomyopathy and the clinical, echocardiographic, surgical and histological profiles of those patients. We searched for patients with mitral valve chordal rupture diagnosed by echocardiography among all electronic files of patients admitted to our centre for hypertrophic cardiomyopathy between 2000 and 2010. Among 580 patients admitted for hypertrophic cardiomyopathy, six patients (1%, 5 men, age 68-71 years) presented with mitral valve chordal rupture, symptomatic in five cases, always involving the posterior mitral leaflet. In all cases, echocardiography before rupture showed mitral valve systolic anterior motion, with anterior (and not posterior) leaflet elongation compared with a random sample of patients with non-obstructive hypertrophic cardiomyopathy (P=0.006) (and similar to that observed in obstructive hypertrophic cardiomyopathy). Significant resting left ventricular outflow tract obstruction was always present before rupture and disappeared after rupture in the five cases requiring mitral valve surgery for severe mitral regurgitation. Histological findings were consistent with extensive myxomatous degeneration in all cases. Mitral valve chordal rupture is: infrequent in hypertrophic cardiomyopathy; occurs in aged patients with obstructive disease; involves, essentially, the posterior mitral leaflet; and causes, in general, severe mitral regurgitation requiring surgery. Myxomatous degeneration may be the substrate for rupture in these patients. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  11. 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

  12. 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.

  13. Inherited cardiomyopathies mimicking arrhythmogenic right ventricular cardiomyopathy.

    Science.gov (United States)

    Roberts, Jason D; Veinot, John P; Rutberg, Julie; Gollob, Michael H

    2010-01-01

    Arrhythmogenic right ventricular cardiomyopathy (ARVC) represents an inherited cardiomyopathy that manifests clinically with malignant ventricular arrhythmias, sudden cardiac death, and less commonly heart failure. The condition is characterized by replacement of the myocardium, primarily of the right ventricle, with fibrofatty tissue. Extensive fibrofatty replacement of the myocardium has been previously thought to be pathognomonic of ARVC; however, this report details two other forms of inherited cardiomyopathy, namely hypertrophic cardiomyopathy (HCM) and the PRKAG2 cardiac syndrome, that were found to have significant fibrofatty myocardial replacement at pathologic examination. This report represents the first documentation of inherited cardiomyopathies mimicking ARVC and highlights the concept that other cardiac conditions can be associated with fibrofatty replacement of the myocardium. Copyright 2010 Elsevier Inc. All rights reserved.

  14. [Classification of cardiomyopathy].

    Science.gov (United States)

    Asakura, Masanori; Kitakaze, Masafumi

    2014-01-01

    Cardiomyopathy is a group of cardiovascular diseases with poor prognosis. Some patients with dilated cardiomyopathy need heart transplantations due to severe heart failure. Some patients with hypertrophic cardiomyopathy die unexpectedly due to malignant ventricular arrhythmias. Various phenotypes of cardiomyopathies are due to the heterogeneous group of diseases. The classification of cardiomyopathies is important and indispensable in the clinical situation. However, their classification has not been established, because the causes of cardiomyopathies have not been fully elucidated. We usually use definition and classification offered by WHO/ISFC task force in 1995. Recently, several new definitions and classifications of the cardiomyopathies have been published by American Heart Association, European Society of Cardiology and Japanese Circulation Society.

  15. [Genetics of inherited cardiomyopathies].

    Science.gov (United States)

    Richard, P; Fressart, V; Charron, P; Hainque, B

    2010-10-01

    Hereditary cardiomyopathy is a primitive disorder in which the heart muscle is structurally and functionally abnormal in the absence of any other cause of cardiomyopathy. They are separated into four phenotypic groups, hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy and arrhythmogenic cardiomyopathy of the right ventricle. Hypertrophic cardiomyopathy was the first identified at the molecular level and then the first to benefit of molecular testing. The molecular analyses were then extended the following years to the dilated cardiomyopathy and restrictive cardiomyopathy. The arrhythmogenic right ventricular cardiomyopathy was the latest to be analyzed at the molecular level because the identification of genes involved in that phenotype was published only in 2002 to 2006. The genetics analysis of these diseases has developed over the past decade and, although still complex, is now available in current hospital practice. The objectives of these tests are to confirm a diagnosis difficult to achieve by classic clinical approach and to perform predictive and presymptomatic diagnosis in families when the mutation was identified. This allows for appropriate care of patients at risk, and may respond to a request for prenatal diagnosis in particularly serious forms. These tests are framed in the context of genetic counselling consultation and patients are the subjects of a multidisciplinary care in reference centres. Copyright © 2009 Elsevier Masson SAS. All rights reserved.

  16. [Current knowledge of cardiomyopathy].

    Science.gov (United States)

    Stojsić, D; Stojsić-Milosavljević, A

    1997-01-01

    In 1961, 1964 and 1970, Goodwin proposed a somewhat unwield definition of cardiomyopathies, which was subsequently shortened to "Heart muscle disease of unknown cause" and separated from heart muscle diseases due to conditions involving organs other than the heart: the "specific heart muscle diseases". The cardiomyopathies thus defined were divided into hypertrophic, dilated and restrictive types and their classification was confirmed by the WHO/ISFC Task Force and the report of the WHO Expert Committee on cardiomyopathies in 1984. The cardiomyopathies are now classified by the dominant pathophysiology or where possible by aetiological/pathogenic factors. The modifications proposed by Dr Peter Richardson are timely and reflect revised ways of looking at problems that still face us. They are classified as dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, and arrhythmogenic right ventricular cardiomyopathy. Unclassified cardiomyopathies include a few cases that do not fit readily with any group. The term specific cardiomyopathies is now used to describe heart muscle diseases which are associated with specific cardiac or systemic disorders.

  17. Ventricular hypertrophy in cardiomyopathy.

    Science.gov (United States)

    Oakley, C

    1971-01-01

    Semantic difficulties arise when hypertrophic obstructive cardiomyopathy is seen without obstruction and with congestive failure, and also when congestive cardiomyopathy is seen with gross hypertrophy but without heart failure. Retention of a small left ventricular cavity and a normal ejection fraction characterizes hypertrophic cardiomyopathy at all stages of the disorder. Congestive cardiomyopathy is recognized by the presence of a dilated left ventricular cavity and reduced ejection fraction regardless of the amount of hypertrophy and the presence or not of heart failure. Longevity in congestive cardiomyopathy seems to be promoted when hypertrophy is great relative to the amount of pump failure as measured by increase in cavity size. Conversely, death in hypertrophic cardiomyopathy is most likely when hypertrophy is greatest at a time when outflow tract obstruction has been replaced by inflow restriction caused by diminishing ventricular distensibility. Hypertrophy is thus beneficial and compensatory in congestive cardiomyopathy, whereas it may be the primary disorder and eventual cause of death in hypertrophic cardiomyopathy. Reasons are given for believing that hypertension may have been the original cause of left ventricular dilatation in some case of congestive cardiomyopathy in which loss of stroke output thenceforward is followed by normotension. Development of severe hypertension in these patients after recovery from a prolonged period of left ventricular failure with normotension lends weight to this hypothesis. No fault has been found in the large or small coronary arteries in either hypertrophic cardiomyopathy or congestive cardiomyopathy when they have been examined in life by selective coronary angiography, or by histological methods in biopsy or post-mortem material. Coronary blood supply may be a limiting factor in the compensatory hypertrophy of congestive cardiomyopathy, and the ability to hypertrophy may explain the better prognosis of some

  18. Children's Cardiomyopathy Foundation

    Science.gov (United States)

    ... to accelerating the search for cures while improving diagnosis, treatment, and quality of life for children affected by cardiomyopathy. CCF actively works with federal agencies, medical societies, ...

  19. [Definition and classification of cardiomyopathies and specific cardiomyopathies].

    Science.gov (United States)

    Nakata, M; Koga, Y

    2000-01-01

    The cardiomyopathies were previously defined as "heart muscle diseases of unknown cause" and were differentiated from specific heart muscle disease with known cause. With increasing understanding of etiology and pathogenesis, the difference between cardiomyopathy and specific heart muscle disease has become indistinct. Accordingly in 1995 WHO/ISFC task force, the definition and classification of cardiomyopathies were revised as cardiomyopathies are defined as disease of the myocardium associated with cardiac dysfunction. On the other hand, since the classification has become established clinical entities, the terminology is preserved as follows: dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy. While arrhythmogenic right ventricular cardiomyopathy is additionally included. The term specific cardiomyopathies is used to describe heart diseases that are associated with specific cardiac or systemic disorders. These were previously defined as specific heart muscle diseases. They included ischemic cardiomyopathy, valvular cardiomyopathy, hypertensive cardiomyopathy, inflammatory cardiomyopathy, metabolic cardiomyopathy, general system disease, muscular dystrophies, sensitivity and toxic reactions and peripartal cardiomyopathy. The cardiomyopathies are therefore classified by the dominant pathophysiology or, if possible, by etiological/pathogenetic factors.

  20. 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.

  1. Molecular mechanisms in cardiomyopathy.

    Science.gov (United States)

    Dadson, Keith; Hauck, Ludger; Billia, Filio

    2017-07-01

    Cardiomyopathies represent a heterogeneous group of diseases that negatively affect heart function. Primary cardiomyopathies specifically target the myocardium, and may arise from genetic [hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), mitochondrial cardiomyopathy] or genetic and acquired [dilated cardiomyopathy (DCM), restrictive cardiomyopathy (RCM)] etiology. Modern genomics has identified mutations that are common in these populations, while in vitro and in vivo experimentation with these mutations have provided invaluable insight into the molecular mechanisms native to these diseases. For example, increased myosin heavy chain (MHC) binding and ATP utilization lead to the hypercontractile sarcomere in HCM, while abnormal protein-protein interaction and impaired Ca2+ flux underlie the relaxed sarcomere of DCM. Furthermore, expanded access to genetic testing has facilitated identification of potential risk factors that appear through inheritance and manifest sometimes only in the advanced stages of the disease. In this review, we discuss the genetic and molecular abnormalities unique to and shared between these primary cardiomyopathies and discuss some of the important advances made using more traditional basic science experimentation. © 2017 The Author(s). published by Portland Press Limited on behalf of the Biochemical Society.

  2. [Genetic diagnostics for cardiomyopathies].

    Science.gov (United States)

    Czepluch, Frauke; Wollnik, Bernd; Hasenfuß, Gerd

    2017-05-01

    Cardiomyopathies often have a genetic etiology. New genetic diagnostic strategies based on next generation sequencing (NGS)-approaches will continuously increase our knowledge about the genetic basis of cardiomyopathies within the following years. Diagnostics and therapy of rare, genetically-induced cardiac diseases increasingly require special cardiac and genetic knowledge. Interestingly, mutations in the same gene or even identical gene mutations can be associated with different cardiomyopathy phenotypes and can exhibit incomplete penetrance or variable expressivity. In the future, the correct interpretation and classification of novel gene variants identified in patients with inherited cardiomyopathy forms will represent a great challenge. Genetic counselling and - if appropriate - subsequent genetic testing for cardiomyopathy patients and their asymptomatic relatives is essential for an early diagnosis of the disease, a prognostic evaluation and possibly for the start of preventive or therapeutic measures. © Georg Thieme Verlag KG Stuttgart · New York.

  3. Recurrent Takotsubo Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Erkan Yıldırım

    2016-09-01

    Full Text Available Stress-induced cardiomyopathy or takotsubo syndrome is a transient cardiac dysfunction which is precipitated by intense emotional or physical stress. It mimics acute coronary syndrome clinically (chest pain and dyspnea and has specific echocardiographic findings in the absence of significant coronary stenosis. The underlying pathophysiologic mechanism is mostly due to stress-induced catecholamine release. This syndrome is more commonly seen in females especially in the postmenopausal period. The prognosis of stress-induced cardiomyopathy is usually favorable with a prevalence of in-hospital mortality of less than 2%. Reports of a single episode of stress-induced cardiomyopathy are common in the literature, but recurrence of stress-induced cardiomyopathy is rare. Herein, we present an uncommon case of recurrent stress-induced cardiomyopathy in order to provide an explanation of the pathophysiology of this unique syndrome.

  4. Cardiomyopathy During Pregnancy.

    Science.gov (United States)

    Troiano, Nan H

    2015-01-01

    Cardiomyopathy is an acquired cardiac disorder that, although rare, accounts for a rising proportion of reported pregnancy-related deaths in the United States. During pregnancy, cardiomyopathy may be divided into 2 groups. The first group is peripartum cardiomyopathy; the second group is stratified according to 3 classically defined pathophysiologic presentations: hypertrophic, dilated, or restrictive. Within this second group, the cardiomyopathy can be either idiopathic or due to a specific identified cause. This disorder poses significant risks of morbidity and/or mortality to the pregnant woman and fetus/neonate. This article describes types of cardiomyopathy during pregnancy, perinatal risks, and general management principles with a focus on intrapartum care. Hemodynamic and oxygen transport data are presented to illustrate interpretation of patient assessment findings and the effects of interventions for abnormal maternal and fetal findings.

  5. [Gender effect on cardiomyopathy].

    Science.gov (United States)

    Biagini, Elena; Berardini, Alessandra; Graziosi, Maddalena; Rosmini, Stefania; Pazzi, Chiara; Rapezzi, Claudio

    2012-06-01

    The role of a gender effect (that means differences in clinical manifestations, access to therapies and response to treatments according to gender) in cardiomyopathies remains a matter of debate. Although recent studies have evaluated the differences in the clinical features and prognosis between the two sexes, many issues remain to be elucidated. At present, the only sex-specific condition that affects females is peripartum cardiomyopathy. Recent evidence suggests a pathogenetic role of a prolactin derivative, and ongoing clinical trials are investigating the possibility of targeted therapies using prolactin secretion inhibitors, such as bromocriptine and carbegoline. Although women were considered so far only carriers of X-linked diseases (Anderson-Fabry disease, Danon disease, Hunter syndrome and dystrophinopathies), clinical experience showed a wide spectrum of clinical manifestations in females due to random X chromosome inactivation. Conversely, in mitochondrial diseases (with matrilineal inheritance), cardiomyopathies may occur in the context of clinical multisystemic involvement without significant gender-related differences. Autosomal inherited cardiomyopathies also show different phenotypes and prognostic impact according to gender. The hypothesis of a premenopausal protective role of female hormones towards myocardial involvement has been raised by recent data on transtiretin-related amyloidosis and hypertrophic cardiomyopathy. Preexisting cardiomyopathies may affect pregnancy, labor and delivery in women, since all these conditions are associated with important hemodynamic changes. Women with low-risk hypertrophic cardiomyopathy (asymptomatic and without left ventricular outflow tract gradient) usually can tolerate pregnancy. Conversely, women who are symptomatic before pregnancy or have severe hypertrophy with important outflow tract gradient are at higher risk and should be referred to a tertiary center to be evaluated on a case by case basis

  6. 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.

  7. Cardiomyopathy in Marfan syndrome.

    Science.gov (United States)

    Hetzer, Roland; Siegel, Günter; Delmo Walter, Eva Maria

    2016-02-01

    This report aims to evaluate the existence of primary and secondary cardiomyopathy in patients with Marfan syndrome (MFS) who underwent surgical management for primary cardiovascular sequelae of this genetic disorder. Likewise, we aim to determine whether the myocardium in MFS is susceptible to ischaemia independent of myocardial protection used during surgery. Between April 1986 and May 2012, 421 patients with MFS were surgically treated for cardiovascular manifestations. Among them, 47 (mean age: 39.45 ± 12.64, median: 36, range: 19-66, years) eventually were surgically treated for cardiomyopathy. They were grouped into A: patients who subsequently developed ischaemic cardiomyopathy and eventually underwent coronary revascularization for coronary artery disease (n = 11); B: patients who subsequently developed end-stage cardiomyopathy for which a mechanical circulatory support device was implanted to support the failing heart (n = 13) and C: patients who subsequently developed end-stage cardiomyopathy (n = 23), among whom 21 underwent primary heart transplantation, while 2 patients are still waiting for donor hearts. Retrospective analysis of the medical records of 47 patients revealed the following: In Group A, 3 (27.2%) patients had already existing ischaemic cardiomyopathy before the first various cardiovascular surgeries, while ischaemic cardiomyopathy in the other 8 (72.7%) developed postoperatively. The interval between previous surgery and development of cardiomyopathy was a mean of 8.0 ± 07 years. In Group B, 5 (38.4%) had existing primary cardiomyopathy prior to surgery, while 8 (61.5%) developed end-stage cardiomyopathy postoperatively. The interval between previous surgery and development of cardiomyopathy was a mean of 9.0 ± 4 months. In Group C, 5 (21.7%) had been diagnosed with cardiomyopathy prior to the cardiovascular surgery, while 18 (78.2%) developed end-stage cardiomyopathy postoperatively. The mean interval between previous surgery and

  8. Familial dilated cardiomyopathy.

    Science.gov (United States)

    Martins, Elisabete; Cardoso, José Silva; Abreu-Lima, Cassiano

    2002-12-01

    Dilated cardiomyopathy is a disorder affecting heart muscle, characterized by ventricular dilation and reduced systolic function. It represents the most common cause of heart failure. Until recently, dilated cardiomyopathy was considered an exclusively sporadic and idiopathic disease. Now, as defined by the World Health Organization, cardiomyopathy includes not only the idiopathic form, but secondary ones such as ischemic or hypertensive. It is estimated that familial occurrence accounts for 30% of cases of idiopathic dilated cardiomyopathy. The most common mode of inheritance is the autosomal dominant type. The X-linked, autosomal recessive and mitochondrial forms are less common. Different genes or loci are responsible for the cardiac dilatation, and code for sarcomeric, cytoskeleton and nuclear lamina proteins. The molecular interactions of the mutated proteins with factors such as infectious agents or alcohol could explain the variety of presenting signs and symptoms of this type of cardiomyopathy. Recently the European Society of Cardiology published a definition and a protocol for the study of familial dilated cardiomyopathies. Genetic research in the field of dilated cardiomyopathy can increase our understanding of its pathogenesis and lead to new treatment modalities for the disease.

  9. Review of cardiomyopathy imaging

    Energy Technology Data Exchange (ETDEWEB)

    Gunaratnam, Kughan, E-mail: Kughan@hotmail.com [Monash Medical Centre, Southern Health, Melbourne (Australia); Wong, Lok Hun, E-mail: nuhkol@hotmail.com [Monash Medical Centre, Southern Health, Melbourne (Australia); Nasis, Arthur, E-mail: arthur.nasis@southernhealth.org.au [Monash Medical Centre, Southern Health, Melbourne (Australia); Ellims, Andris, E-mail: aellims@hotmail.com [The Alfred Hospital, 55 Commercial Road, Melbourne, VIC 3004 (Australia); Nandurkar, Dee, E-mail: nandurkar.dee@gmail.com [Monash Medical Centre, Southern Health, Melbourne (Australia); Soo, Geoffrey, E-mail: geoffrey.soo@southernhealth.org.au [Monash Medical Centre, Southern Health, Melbourne (Australia); Cameron, James, E-mail: james.cameron@monash.edu.au [Monash Medical Centre, Southern Health, Melbourne (Australia); Troupis, John, E-mail: john.troupis@southernhealth.org.au [Monash Medical Centre, Southern Health, Melbourne (Australia)

    2013-10-01

    Cardiomyopathies are increasingly being detected on both routine and non-routine imaging. Furthermore, the diagnosis of cardiomyopathy is changing from the traditional method of clinical presentation and cardiac morphology to a quantifiable method based on both cardiac morphology and function. With cardiac magnetic resonance imaging, coronary computed tomography and nuclear medicine increasingly being utilized along with echocardiography in the diagnostic process, it is important for the radiologist to be aware of the relevant criteria in formulating a diagnosis. We aim to provide an overview of the imaging characteristics of the most commonly encountered cardiomyopathies.

  10. Sex differences in cardiomyopathies

    NARCIS (Netherlands)

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

    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

  11. Takotsubo (Stress) Cardiomyopathy

    Science.gov (United States)

    ... the American Heart Association Cardiology Patient Page Takotsubo (Stress) Cardiomyopathy Scott W. Sharkey , John R. Lesser , Barry ... heart contraction has returned to normal. Importance of Stress In 85% of cases, takotsubo is triggered by ...

  12. [Cardiomyopathies and myocarditis].

    Science.gov (United States)

    von Knobelsdorff-Brenkenhoff, F; Schulz-Menger, J

    2013-01-01

    Cardiomyopathies and myocarditis are frequently challenging in clinical practice regarding differentiation, risk stratification and treatment strategy. There are various disease entities which often affect young or middle-aged adults and the course is variable from asymptomatic and irrelevant for prognosis to sudden cardiac death or severe heart failure even at an early age. Making the right diagnosis is therefore fundamental to correctly identify affected patients and to initiate treatment steps in time. Whereas causal treatment options exist for some forms of cardiomyopathy, the majority of patients receives standard heart failure and device therapy but others require lifelong careful monitoring. The diagnosis of cardiomyopathy is mainly based on the cardiac phenotype; therefore, non-invasive imaging is very important. Cardiovascular magnetic resonance has become the gold standard to assess cardiomyopathy as it combines functional information (e.g. wall motion) with myocardial tissue analysis (e.g. fibrosis and edema) and in some cases it can replace invasive endomyocardial biopsies. The importance of cardiovascular magnetic resonance to assess cardiomyopathy is based on several aspects: accurate analysis of cardiac dimensions and function, non-invasive tissue analysis to make the diagnosis (e.g. myocarditis), estimation of prognosis by non-invasive tissue analysis, high reproducibility for accurate follow-up examinations, potential for technical improvements (e.g. quantification of extracellular volume fraction by T1 mapping). In all types of cardiomyopathy, cardiovascular magnetic resonance has a major impact on the differential diagnosis, risk stratification and treatment. In some entities the appropriate clinical use is already confirmed by evidence (e.g. myocarditis) and in others there are first encouraging results that indicate the future potential (e.g. risk stratification in hypertrophic cardiomyopathy). Cardiovascular magnetic resonance has evolved as

  13. Nutrition in Pediatric Cardiomyopathy

    OpenAIRE

    Miller, Tracie L.; Neri, Daniela; Extein, Jason; Somarriba, Gabriel; Strickman-Stein, Nancy

    2007-01-01

    Pediatric cardiomyopathies are heterogeneous groups of serious disorders of the heart muscle and are responsible for significant morbidity and mortality among children who have the disease. While enormous improvements have been made in the treatment and survival of children with congenital heart disease, parallel strides have not been made in the outcomes for cardiomyopathies. Thus, ancillary therapies, such as nutrition and nutritional interventions, that may not cure but may potentially imp...

  14. Stress-induced cardiomyopathy.

    Science.gov (United States)

    Boland, Torrey A; Lee, Vivien H; Bleck, Thomas P

    2015-03-01

    Reversible stress-induced cardiac dysfunction is frequently seen as a complication of a multitude of acute stress states, in particular neurologic injuries. This dysfunction may be difficult to distinguish between that caused by myocardial ischemia and may impact both the treatment strategies and prognosis of the underlying condition. Critical care practitioners should have an understanding of the epidemiology, pathophysiology, clinical characteristics, precipitating conditions, differential diagnosis, and proposed treatments for stress-induced cardiomyopathy. MEDLINE database search conducted from inception to August 2014, including the search terms "tako-tsubo," "stress-induced cardiomyopathy," "neurogenic cardiomyopathy," "neurogenic stress cardiomyopathy," and "transient left ventricular apical ballooning syndrome". In addition, references from pertinent articles were used for a secondary search. After review of peer-reviewed original scientific articles, guidelines, and reviews resulting from the literature search described above, we made final selections for included references and data based on relevance and author consensus. Stress-induced cardiomyopathy occurs most commonly in postmenopausal women. It can be precipitated by emotional stress, neurologic injury, and numerous other stress states. Patients may present with symptoms indistinguishable from acute coronary syndrome or with electrocardiogram changes and wall motion abnormalities on echocardiogram following neurologic injury. Nearly all patients will have an elevated cardiac troponin. The underlying etiology is likely related to release of catecholamines, both locally in the myocardium and in the circulation. Differential diagnosis includes myocardial infarction, myocarditis, neurogenic pulmonary edema, and nonischemic cardiomyopathy. Although the natural course of stress-induced cardiomyopathy is resolution, treatment strategies include sympathetic blockade and supportive care. Stress

  15. Development of an Infrequency Index for the CAARS

    Science.gov (United States)

    Suhr, Julie A.; Buelow, Melissa; Riddle, Tara

    2011-01-01

    There is a clinical need for measurement of noncredible self-reporting of symptoms of attention deficit hyperactivity disorder (ADHD) in adults presenting for ADHD evaluation. The present study describes the development of initial validity data for an Infrequency Index for the Conner's Adult Attention Deficit/Hyperactivity Rating Scale (CII).…

  16. How Can Cardiomyopathy Be Prevented?

    Science.gov (United States)

    ... extra or unusual sounds heard during a heartbeat.) Diagnosis Your doctor will diagnose cardiomyopathy based on your medical and family histories, a ... 03, 2013 | News Release Risk factors identified at diagnosis help predict outcomes for ... Cardiomyopathy ...

  17. Immunity in dilated cardiomyopathy.

    Science.gov (United States)

    Das, S K; Cassidy, J T; Huber, S A

    1985-01-01

    Although several immunologic parameters have been found to be abnormal, their precise relationship to the cause of the disease remains unclear. It is believed that a virus initiating a bout of myocarditis may play a role in the perpetuation of the chronic phase, probably via immunologic mediation. A selection acquired defect or damage to a subpopulation of suppressor T lymphocytes is possible, providing the basis for the development of an autoimmune disorder. Studies in mice have shown a clear link between active viral myocarditis and the subsequent development of cardiomyopathy. However, the trigger mechanism that initiates the cardiomyopathy is still elusive. Specific antigens, possibly altered virus or damaged cardiac tissue, may be playing the role of the "hidden or cloistered" antigen in eliciting the immunologic reactions through a cytotoxic T-cell mechanism. Identification and isolation of the specific "antigen" in question could resolve the dilemmas about the immunopathogenesis of cardiomyopathy in humans.

  18. HYPERTROPHIC CARDIOMYOPATHY IN MULTIMORBIDITY

    Directory of Open Access Journals (Sweden)

    A. I. Lakhonina

    2016-06-01

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

  19. Infrequent dialysis: a new paradigm for hemodialysis initiation.

    Science.gov (United States)

    Rhee, Connie M; Unruh, Mark; Chen, Jing; Kovesdy, Csaba P; Zager, Phillip; Kalantar-Zadeh, Kamyar

    2013-01-01

    Nearly a half-century ago, the thrice-weekly hemodialysis schedule was empirically established as a means to provide an adequate dialysis dose while also treating the greatest number of end-stage renal disease (ESRD) patients using limited resources. Landmark trials of hemodialysis adequacy have historically been anchored to thrice-weekly regimens, but a recent randomized controlled trial demonstrated that frequent hemodialysis (six times per week) confers cardiovascular and survival benefits. Based on these collective data and experience, clinical practice guidelines advise against a less than thrice-weekly treatment schedule in patients without residual renal function, yet provide limited guidance on the optimal treatment frequency when substantial native kidney function is present. Thus, during the transition from Stage 5 chronic kidney disease to ESRD, the current paradigm is to initiate hemodialysis on a "full-dose" thrice-weekly regimen even among patients with substantial residual renal function. However, emerging data suggest that frequent hemodialysis accelerates residual renal function decline, and infrequent regimens may provide better preservation of native kidney function. Given the high mortality rates during the first 6 months of hemodialysis and the survival benefits of preserved native kidney function, initiation with twice-weekly treatment schedules ("infrequent hemodialysis") with an incremental increase in frequency over time may provide an opportunity to optimize patient survival. This review outlines the clinical benefits of post-hemodialysis residual renal function, studies of twice-weekly treatment regimens, and the potential risks and benefits of infrequent hemodialysis. © 2013 Wiley Periodicals, Inc.

  20. Cardiomyopathy Following Latrodectus Envenomation

    Directory of Open Access Journals (Sweden)

    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.

  1. Hormones and postpartum cardiomyopathy.

    NARCIS (Netherlands)

    Clapp, C.; Thebault, S.C.; Martinez de la Escalera, G.M.

    2007-01-01

    Prolactin, a hormone fundamental for lactation, was recently shown to mediate postpartum cardiomyopathy, a life-threatening disease in late-term and lactating mothers. The detrimental effect of prolactin results from myocardial upregulation of cathepsin-D, which in turn cleaves prolactin to a 16 kDa

  2. Genetics Home Reference: familial hypertrophic cardiomyopathy

    Science.gov (United States)

    ... Home Health Conditions Familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Familial hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) ...

  3. Genetics Home Reference: familial dilated cardiomyopathy

    Science.gov (United States)

    ... Home Health Conditions Familial dilated cardiomyopathy Familial dilated cardiomyopathy Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Familial dilated cardiomyopathy is a genetic form of heart disease. It ...

  4. Genetics Home Reference: familial restrictive cardiomyopathy

    Science.gov (United States)

    ... Home Health Conditions Familial restrictive cardiomyopathy Familial restrictive cardiomyopathy Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Familial restrictive cardiomyopathy is a genetic form of heart disease. For ...

  5. Infrequent Dialysis: A New Paradigm for Hemodialysis Initiation

    Science.gov (United States)

    Rhee, Connie M.; Unruh, Mark; Chen, Jing; Kovesdy, Csaba P.; Zager, Phillip; Kalantar-Zadeh, Kamyar

    2013-01-01

    Nearly a half-century ago, the thrice-weekly hemodialysis schedule was empirically established as a means to provide an adequate dialysis dose while also treating the greatest number of end-stage renal disease patients using limited resources. Landmark trials of hemodialysis adequacy have historically been anchored to thrice-weekly regimens, but a recent randomized controlled trial demonstrated that frequent hemodialysis (six times per week) confers cardiovascular and survival benefits. Based on these collective data and experience, clinical practice guidelines advise against a less than thrice-weekly treatment schedule in patients without residual renal function, yet provide limited guidance on the optimal treatment frequency when substantial native kidney function is present. Thus, during the transition from Stage 5 chronic kidney disease to end-stage renal disease, the current paradigm is to initiate hemodialysis on a “full dose” thrice-weekly regimen even among patients with substantial residual renal function. However, emerging data suggests that frequent hemodialysis accelerates residual renal function decline, and infrequent regimens may provide better preservation of native kidney function. Given the high mortality rates during the first 90 days of hemodialysis and the survival benefits of preserved native kidney function, initiation with twice-weekly treatment schedules (“infrequent hemodialysis”) with an incremental increase in frequency over time may provide an opportunity to optimize patient survival. This review outlines the clinical benefits of post-hemodialysis residual renal function, studies of twice-weekly treatment regimens, and the potential risks and benefits of infrequent hemodialysis. PMID:24016197

  6. Cardiomyopathies as a Cause of Sudden Cardiac Death (SCD in Egypt: Recognition and Preventive Strategies Needed

    Directory of Open Access Journals (Sweden)

    Nora Fnon

    2016-06-01

    Full Text Available This study aimed at evaluating the epidemiological characteristics and pathological features of different types of cardiomyopathies in Egypt, highlighting the role of the forensic pathologist in identifying cases of cardiomyopathies and initiating for their families a possible genetic study aiming at prevention of sudden death. All cases with sudden cardiac death (SCD due to cardiomyopathies during the period from the beginning of January 2010 until the end of December 2014 (5 years were included in this study. All hearts underwent detailed gross and histological examination. Circumstances of death, medical history, and post-mortem pathological findings were thoroughly  investigated. Out of 535 cases of sudden cardiac death, there were 22 cases (4.1% diagnosed as having cardiomyopathies; sudden death was their first presentation. Eighteen cases (81.8% were male, with the 4th decade (11 cases, 50% being the most affected age; severe physical activity and exertion were evident in death circumstances of 14 cases (63.6%; pathological evaluation revealed that hypertrophic cardiomyopathy was the most frequent type, being diagnosed in 10 cases (45%. Cardiomyopathies are an infrequent cause of sudden cardiac death. Most deaths are in children and adults, so cases are of high social impact that demands multidisciplinary research and resources. In all cases of SCD, forensic autopsy should be done. Forensic study is the key to identifying an affected family and the starting point regarding assessing them.

  7. Takotsubo (Stress Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Justin J Hourmozdi

    2017-01-01

    Full Text Available History of present illness: A 59-year-old male presented to the emergency department in shock from pneumonia. The patient was initially afebrile, pulse rate 120 beats per minute, blood pressure 117/69 mmHg, respiratory rate 42 breaths per minute, pulse oximetry 94% on a non-rebreather mask and a lactate of 14 mmol/L. He became progressively more hypotensive despite fluid resuscitation and was started on norepinephrine. Shortly after, the patient developed torsades de pointes that was terminated with intravenous push magnesium. His initial ECG had shown sinus tachycardia; however, repeat ECG showed ST-segment elevation in the inferolateral leads and the patient had troponin I elevation that peaked at 16 ng/mL. Significant findings: Bedside echocardiography showed the findings consistent with Takotsubo cardiomyopathy. Echocardiographic images are shown in subxiphoid (A and apical four chamber (B views. Note the apical ballooning appearance (asterisk of the left ventricle (LV. Discussion: Formal echocardiography confirmed features classic for Takotsubo (stress cardiomyopathy, including globally depressed left ventricle (LV ejection fraction, systolic apical ballooning appearance of the LV, mid and apical segments of LV depression, and hyper kinesis of the basal walls. Takotsubo cardiomyopathy is a syndrome known to cause ST-segment elevation on ECG, transient LV dysfunction, and dysrhythmia in the absence of acute obstructive coronary disease. There is no consensus on diagnostic criteria; however, these criteria are commonly used: 1 transient hypokinesis, akinesis, or dyskinesis in the LV mid-segments with or without apical involvement; regional wall motion abnormalities that extend beyond a single epicardial vascular distribution; and frequently, but not always, a stressful trigger 2 the absence of acute coronary disease or angiographic evidence of acute plaque rupture 3 new ECG abnormalities (ST-segment elevation and/or T-wave inversion or modest

  8. TREATMENT OF PERIPARTUM CARDIOMYOPATHY (REVIEW)

    OpenAIRE

    N. T. Vatutin; G. G. Taradin; L. G. Popelnukhina; Y. P. Gritzenko; I. A. Sidorenko

    2017-01-01

    The presented review concerns discussion about current insights into treatment of peripartum cardiomyopathy. The definition of peripartum cardiomyopathy and general issues about diagnosis and pathogenesis of the disorder are provided at the head of the review. Particularly, the role of the system «prolactin — cathepsin D — prolactin 16 kDa» in cardiomyopathy development is disclosed. The general approaches to management of the patients are highlighted. The review provides detailed data about ...

  9. Saw-tooth cardiomyopathy

    Directory of Open Access Journals (Sweden)

    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.

  10. Inflammatory dilated cardiomyopathy (DCMI).

    Science.gov (United States)

    Maisch, Bernhard; Richter, Anette; Sandmöller, Andrea; Portig, Irene; Pankuweit, Sabine

    2005-09-01

    Cardiomyopathies are heart muscle diseases, which have been defined by their central hemodynamics and macropathology and divided in five major forms: dilated (DCM), hypertrophic (HCM), restrictive (RCM), right ventricular (RVCM), and nonclassifiable cardiomyopathies (NCCM). Furthermore, the most recent WHO/WHF definition also comprises, among the specific cardiomyopathies, inflammatory cardiomyopathy as a distinct entity, defined as myocarditis in association with cardiac dysfunction. Idiopathic, autoimmune, and infectious forms of inflammatory cardiomyopathy were recognized. Viral cardiomyopathy has been defined as viral persistence in a dilated heart. It may be accompanied by myocardial inflammation and then termed inflammatory viral cardiomyopathy (or viral myocarditis with cardiomegaly). If no inflammation is observed in the biopsy of a dilated heart (cardiomyopathy or viral persistence in DCM should be applied according to the WHF Task Force recommendations. Within the German heart failure net it is the authors' working hypothesis, that DCM shares genetic risk factors with other diseases of presumed autoimmune etiology and, therefore, the same multiple genes in combination with environmental factors lead to numerous different autoimmune diseases including DCM. Therefore, the authors' primary goal is to acquire epidemiologic data of patients with DCM regarding an infectious and inflammatory etiology of the disease. Circumstantial evidence points to a major role of viral myocarditis in the etiology of DCM. The common presence of viral genetic material in the myocardium of patients with DCM provides the most compelling evidence, but proof of causality is still lacking. In addition, autoimmune reactions have been described in many studies, indicating them as an important etiologic factor. Nevertheless, data on the proportion of patients, in whom both mechanisms play a role are still missing.A pivotal role for autoimmunity in a substantial proportion of patients

  11. Cyclophosphamide-Induced Cardiomyopathy

    Science.gov (United States)

    Dhesi, Sumandeep; Chu, Michael P.; Blevins, Gregg; Paterson, Ian; Larratt, Loree; Oudit, Gavin Y.

    2013-01-01

    Cyclophosphamide is increasingly used to treat various types of cancers and autoimmune conditions. Higher doses of this drug may produce significant cardiac toxicity, including fatal hemorrhagic myocarditis. In this review, we present a case of cyclophosphamide-induced cardiomyopathy requiring mechanical circulatory support. We also describe the pathophysiology, clinical manifestations, and risk factors for this important clinical entity and propose early detection and management strategies. PMID:26425570

  12. Cyclophosphamide-Induced Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Sumandeep Dhesi MD

    2013-01-01

    Full Text Available Cyclophosphamide is increasingly used to treat various types of cancers and autoimmune conditions. Higher doses of this drug may produce significant cardiac toxicity, including fatal hemorrhagic myocarditis. In this review, we present a case of cyclophosphamide-induced cardiomyopathy requiring mechanical circulatory support. We also describe the pathophysiology, clinical manifestations, and risk factors for this important clinical entity and propose early detection and management strategies.

  13. 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.

  14. Dystrophin-Deficient Cardiomyopathy.

    Science.gov (United States)

    Kamdar, Forum; Garry, Daniel J

    2016-05-31

    Dystrophinopathies are a group of distinct neuromuscular diseases that result from mutations in the structural cytoskeletal Dystrophin gene. Dystrophinopathies include Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy, as well as DMD and BMD female carriers. The primary presenting symptom in most dystrophinopathies is skeletal muscle weakness. However, cardiac muscle is also a subtype of striated muscle and is similarly affected in many of the muscular dystrophies. Cardiomyopathies associated with dystrophinopathies are an increasingly recognized manifestation of these neuromuscular disorders and contribute significantly to their morbidity and mortality. Recent studies suggest that these patient populations would benefit from cardiovascular therapies, annual cardiovascular imaging studies, and close follow-up with cardiovascular specialists. Moreover, patients with DMD and BMD who develop end-stage heart failure may benefit from the use of advanced therapies. This review focuses on the pathophysiology, cardiac involvement, and treatment of cardiomyopathy in the dystrophic patient. Copyright © 2016 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  15. Decade in review--cardiomyopathies: Cardiomyopathy on the move.

    Science.gov (United States)

    Yacoub, Magdi H

    2014-11-01

    Since Wallace Brigden first used the term 'cardiomyopathy' in 1952, this group of diseases has continued to attract the interest of clinicians, researchers, and importantly, patients. The past decade has seen a substantial accumulation of knowledge relating to various cardiomyopathies, which has partially lifted the mystery surrounding this topic.

  16. Tachycardia-induced Cardiomyopathy (Tachycardiomyopathy ...

    African Journals Online (AJOL)

    The term tachycardia-induced cardiomyopathy or tachycardiomyopathy refers to impairment in left ventricular function secondary to chronic tachycardia, which is partially or completely reversible once the tachyarrhythmia is controlled. Tachycardia- induced cardiomyopathy has been shown to occur both in experimental ...

  17. Tachycardia-induced Cardiomyopathy (Tachycardiomyopathy ...

    African Journals Online (AJOL)

    The diagnosis of tachycardia-induced cardiomyopathy is usually made following observation of marked improvement in systolic function after normalization of heart rate. Clinicians should be aware that patients with unexplained systolic dysfunction may have tachycardia-induced cardiomyopathy, and that controlling the ...

  18. Hypertrophic Cardiomyopathy: A Review

    Science.gov (United States)

    Houston, Brian A; Stevens, Gerin R

    2014-01-01

    Hypertrophic cardiomyopathy (HCM) is a global disease with cases reported in all continents, affecting people of both genders and of various racial and ethnic origins. Widely accepted as a monogenic disease caused by a mutation in 1 of 13 or more sarcomeric genes, HCM can present catastrophically with sudden cardiac death (SCD) or ventricular arrhythmias or insidiously with symptoms of heart failure. Given the velocity of progress in both the fields of heart failure and HCM, we present a review of the approach to patients with HCM, with particular attention to those with HCM and the clinical syndrome of heart failure. PMID:25657602

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

    DEFF Research Database (Denmark)

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

    2008-01-01

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

  20. Primary duodenal adenocarcinoma: case report of an infrequent tumor

    Directory of Open Access Journals (Sweden)

    Óscar Moreno-Loaíza

    2013-10-01

    Full Text Available Introduction. Primary duodenal adenocarcinoma is an infrequent tumor both in our environment and in the world. There is no conclusive evidence on its epidemiology, diagnostic criteria, treatment or prognosis. Clinical case. We report a 77 year-old female patient, of mixed racial origin, native of Cusco (Peru who consulted for abdominal pain, weight loss, nausea, postprandial vomiting and bloating of three months course. At the time of examination she had second to third degree protein malnutrition with a BMI of 16.88 kg/m2, signs of moderate to severe chronic anemia and an 8 cm abdominal tumor in the epigastrium and right hypochondrium. The multislice spiral abdominal CT and ultrasonography revealed the presence of a solid tumor in the second portion of the duodenum. The patient was submitted to a gastroenterostomy without tumor resection. Biopsy confirmed tubular adenocarcinoma. Furthermore, no other primary tumors were found in the stomach, pancreas, biliary tree and colon. The patient was stabilized and was treated with 5-fluorouracil, irinotecan and leucovorin. Literature review. The article includes a brief review on the diagnosis, treatment and prognosis of this condition. Discussion. Management is not straightforward. There is little literature on the subject leaving decisions up to the attending physician’s criteria. We believe that all cases of rare diseases should be studied in depth, give rise to a thorough review of literature and, above all, be brought to the attention of the medical community.

  1. Infarct fogging on immediate postinterventional CT - a not infrequent occurrence

    Energy Technology Data Exchange (ETDEWEB)

    Dekeyzer, Sven [Onze-Lieve-Vrouw (OLV) Ziekenhuis Aalst, Department of Medical Imaging, Aalst (Belgium); RWTH University Hospital Aachen, Department of Diagnostic and Interventional Neuroradiology, Aachen (Germany); Reich, Arno [RWTH University Hospital Aachen, Department of Neurology, Aachen (Germany); Othman, Ahmed E. [University Hospital Tuebingen, Department of Radiology, Tuebingen (Germany); Wiesmann, Martin; Nikoubashman, Omid [RWTH University Hospital Aachen, Department of Diagnostic and Interventional Neuroradiology, Aachen (Germany)

    2017-09-15

    A pseudo-normalization of infarcted brain parenchyma, similar to the ''fogging effect'' which usually occurs after 2-3 weeks, can be observed on CT performed immediately after endovascular stroke treatment (EST). Goal of this study was to analyze the incidence of this phenomenon and its evolution on follow-up imaging. One hundred fifty-two patients in our database of 949 patients, who were treated for acute stroke between January 2010 and January 2015, fulfilled the inclusion criteria of (a) EST for an acute stroke in the anterior circulation, (b) an ASPECT-score < 10 on pre-interventional CT, and (c) postinterventional CT imaging within 4.5 h after the procedure. Two independent reviewers analyzed imaging data of these patients. Transformation of brain areas from hypoattenuated on pre-interventional CT to isodense on postinterventional CT was seen in 37 patients in a total of 49 ASPECTS areas (Cohen's kappa 0.819; p < 0.001). In 17 patients, the previously hypoattenuated brain areas became isodense, but appeared swollen. In 20 patients (13%), the previously hypodense brain area could not be distinguished from normal brain parenchyma. On follow-up imaging, all isodense brain areas showed signs of infarction. Pseudo-normalization of infarct hypoattenuation on postinterventional CT is not infrequent. It is most likely caused by contrast leakage in infarcted parenchyma and does not represent salvage of ischemic brain parenchyma. (orig.)

  2. Buprenorphine infrequently found in fatal overdose in New York City.

    Science.gov (United States)

    Paone, Denise; Tuazon, Ellenie; Stajic, Marina; Sampson, Barbara; Allen, Bennett; Mantha, Shivani; Kunins, Hillary

    2015-10-01

    Buprenorphine is an opioid agonist medication that is both safe and effective in the treatment of opioid use disorders and the prevention of opioid overdoses. Despite this, media coverage has highlighted public concerns about the potential safety consequences of buprenorphine misuse and diversion. To address the possible contribution of buprenorphine to overdose mortality, we systematically tested post mortem blood specimens from decedents who had died of an unintentional drug overdoses in 2013. We retrospectively tested consecutive drug overdose cases that occurred from June through October 2013. Cases with available blood specimens were tested for buprenorphine and norbuprenorphine using liquid chromatography-tandem mass spectrometry. Toxicology results were linked to death certificates and case files from New York City Vital Statistics and New York City Office of the Chief Medical Examiner. Of the 98 unintentional drug overdose fatalities tested, only 2 (2.0%) tested positive for buprenorphine metabolites. All 98 unintentional fatalities involved multiple substances. Buprenorphine was infrequently found in drug overdose deaths in New York City. Since the safety and efficacy of buprenorphine are well documented, and overdoses resulting from buprenorphine treatment or diversion are very rare, facilitating access to buprenorphine treatment is strongly recommended. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  3. Genetics of inherited cardiomyopathy

    Science.gov (United States)

    Jacoby, Daniel; McKenna, William J.

    2012-01-01

    During the past two decades, numerous disease-causing genes for different cardiomyopathies have been identified. These discoveries have led to better understanding of disease pathogenesis and initial steps in the application of mutation analysis in the evaluation of affected individuals and their family members. As knowledge of the genetic abnormalities, and insight into cellular and organ biology has grown, so has appreciation of the level of complexity of interaction between genotype and phenotype across disease states. What were initially thought to be one-to-one gene-disease correlates have turned out to display important relational plasticity dependent in large part on the genetic and environmental backgrounds into which the genes of interest express. The current state of knowledge with regard to genetics of cardiomyopathy represents a starting point to address the biology of disease, but is not yet developed sufficiently to supplant clinically based classification systems or, in most cases, to guide therapy to any significant extent. Future work will of necessity be directed towards elucidation of the biological mechanisms of both rare and common gene variants and environmental determinants of plasticity in the genotype–phenotype relationship with the ultimate goal of furthering our ability to identify, diagnose, risk stratify, and treat this group of disorders which cause heart failure and sudden death in the young. PMID:21810862

  4. Pyrophosphate heart scan in cardiomyopathies

    Energy Technology Data Exchange (ETDEWEB)

    Duska, F.; Novak, J.; Kubicek, J.; Vizda, J.; Kafka, P.; Blaha, V.; Nesvadba, Z.; Zdansky, P. (Karlova Univ., Hradec Kralove (Czechoslovakia). Lekarska Fakulta)

    1982-01-01

    Scintigraphic examination of the heart with pyrophosphate labelled sup(99m)Tc was made in 26 patients with cardiomyopathies of different etiology. From a total of 11 children with secondary affections of the myocardium in myodystrophia musculorum progressiva a positive scintigraphic finding was only obtained in two cases. 12 patients with primary non-obstructive cardiomyopathies the scan was positive in nine cases. One positive scintigraphic finding was shown in examinating three patients with obstructive cardiomyopathies (subvalvular aortic stenosis). The positive scan suggests acute progress of the pathological process in the heart.

  5. 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.

    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,

  6. Systematic review of pregnancy in women with inherited cardiomyopathies

    NARCIS (Netherlands)

    Krul, Sébastien 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,

  7. Tachycardia-induced Cardiomyopathy (Tachycardiomyopathy

    Directory of Open Access Journals (Sweden)

    Hassan A. Mohamed

    2007-01-01

    Full Text Available The term tachycardia-induced cardiomyopathy or tachycardiomyopathy refers to impairment in left ventricular function secondary to chronic tachycardia, which is partially or completely reversible once the tachyarrhythmia is controlled. Tachycardia-induced cardiomyopathy has been shown to occur both in experimental models and in patients with incessant tachyarrhythmia.Data from several studies and from case reports have shown that rate control by means of cardioversion, negative chronotropic agents, and surgical or catheter-based atrioventricular node ablation, resulted in significant improvement of systolic function.The diagnosis of tachycardia-induced cardiomyopathy is usually made following observation of marked improvement in systolic function after normalization of heart rate. Clinicians should be aware that patients with unexplained systolic dysfunction may have tachycardia-induced cardiomyopathy, and that controlling the arrhythmia may result in improvement of systolic function.

  8. Takotsubo cardiomyopathy post liver transplantation.

    Science.gov (United States)

    Vachiat, Ahmed; McCutcheon, Keir; Mahomed, Adam; Schleicher, Gunter; Brand, Liezl; Botha, Jean; Sussman, Martin; Manga, Pravin

    2016-10-23

    A patient with end-stage liver disease developed stress-induced Takotsubo cardiomyopathy post liver transplantation, with haemodynamic instability requiring a left ventricular assist device. We discuss the diagnosis and management of this condition.

  9. Genetic testing in specific cardiomyopathies

    OpenAIRE

    Haugaa, Kristina Hermann; Leren, Trond P.; Amlie, Jan Peder

    2009-01-01

    An increasing number of genetic tests for cardiomyopathies are becoming available for clinical use. This commentary will give a short overview of indications and challenges concerning genetic testing for these conditions.

  10. Diabetic Cardiomyopathy: Bench to Bedside

    Science.gov (United States)

    Schilling, Joel D.; Mann, Douglas L.

    2012-01-01

    The study of diabetic cardiomyopathy (diabetic CM) is an area of significant interest given the strong association between diabetes and the risk of heart failure. Many unanswered questions remain regarding the clinical definition and pathogenesis of this metabolic cardiomyopathy. This article reviews the current understanding of diabetic CM with a particular emphasis on the unresolved issues that have limited translation of scientific discovery to patient bedside. PMID:22999244

  11. Misconceptions and Facts About Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Argulian, Edgar; Sherrid, Mark V; Messerli, Franz H

    2016-02-01

    Hypertrophic cardiomyopathy is the most common genetic heart disease. Once considered relentless, untreatable, and deadly, it has become a highly treatable disease with contemporary management. Hypertrophic cardiomyopathy is one of cardiology's "great masqueraders." Mistakes and delays in diagnosis abound. Hypertrophic cardiomyopathy commonly "masquerades" as asthma, anxiety, mitral prolapse, and coronary artery disease. However, once properly diagnosed, patients with hypertrophic cardiomyopathy can be effectively managed to improve both symptoms and survival. This review highlights some of the misconceptions about hypertrophic cardiomyopathy. Providers at all levels should have awareness of hypertrophic cardiomyopathy to promptly diagnose and properly manage these individuals. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Peripartum cardiomyopathy in Denmark

    DEFF Research Database (Denmark)

    Ersbøll, Anne S; Johansen, Marianne; Damm, Peter

    2017-01-01

    and searched for cardiomyopathy and heart failure ICD-10 diagnoses in a period of nine months before to 12 months after a delivery from 1 January 2005 through 31 December 2014. Diagnoses were validated and additional data were extracted from patient charts. A total of 61 women met the inclusion criteria...... equalling 1 in 10 149 deliveries. The majority recovered left ventricular systolic function within one year, but 14.8% suffered a major adverse event with 3.3% mortality, 8.2% mechanical circulatory support requirement and/or heart transplantation and 4.9% persistent severe heart failure. Half of the women...... had a concomitant hypertensive disorder of pregnancy, and this subgroup had a milder course of the disease. Baseline left ventricular ejection fraction (LVEF) was the only significant predictor of LVEF 10-14 months after diagnosis, and cabergoline therapy to inhibit lactation predicted the dichotomous...

  13. Takotsubo or Stress Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    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.

  14. Arrhythmogenic right ventricular cardiomyopathy.

    Science.gov (United States)

    Soni, Roopali; Oade, Yvette

    2011-08-24

    Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare inherited disease of the heart muscle that causes ventricular tachyarrhythmias and sudden death in young people and athletes. It results in fibrofatty replacement of the right ventricle, and the subepicardial region of the left ventricle. It is the most common cause of sudden cardiac death in young people after hypertrophic heart disease. Diagnosis can be difficult and at present there is no cure for ARVC. Prevention of sudden death is the most important management strategy. Paediatricians need to be aware of the possibility of ARVC in adolescents and young adults presenting with palpitations, fatigue, syncope or cardiac arrest. The authors present two cases of apparently healthy teenage boys who died suddenly and unexpectedly. Postmortem examination of the myocardium was strongly suggestive of ARVC in both cases.

  15. DIFFERENTIAL DIAGNOSIS OF HYPERTROPHIC CARDIOMYOPATHY

    Directory of Open Access Journals (Sweden)

    I. V. Leontyeva

    2017-01-01

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

  16. Who Is at Risk for Cardiomyopathy?

    Science.gov (United States)

    ... extra or unusual sounds heard during a heartbeat.) Diagnosis Your doctor will diagnose cardiomyopathy based on your medical and family histories, a ... 03, 2013 | News Release Risk factors identified at diagnosis help predict outcomes for ... Cardiomyopathy ...

  17. Current management of peripartum cardiomyopathy: A review ...

    African Journals Online (AJOL)

    Electrocardiogram, magnetic resonance imaging, endomyocardial biopsy and cardiac catheterization aid in the diagnosis and management of peripartum cardiomyopathy. Treatment includes both conventional pharcomological heart failure and peripartum cardiomyopathy targeted therapies.Therapeutic decisions are ...

  18. Genetics Home Reference: arrhythmogenic right ventricular cardiomyopathy

    Science.gov (United States)

    ... Twitter Home Health Conditions ARVC Arrhythmogenic right ventricular cardiomyopathy Printable PDF Open All Close All Enable Javascript ... the expand/collapse boxes. Description Arrhythmogenic right ventricular cardiomyopathy ( ARVC ) is a form of heart disease that ...

  19. Subaortic and midventricular obstructive hypertrophic cardiomyopathy with extreme segmental hypertrophy

    Directory of Open Access Journals (Sweden)

    Karoulas Takis

    2007-03-01

    Full Text Available Abstract Background Subaortic and midventricular hypertrophic cardiomyopathy in a patient with extreme segmental hypertrophy exceeding the usual maximum wall thickness reported in the literature is a rare phenomenon. Case Presentation A 19-year-old man with recently diagnosed hypertrophic cardiomyopathy (HCM was referred for sudden death risk assessment. The patient had mild exertional dyspnea (New York Heart Association functional class II, but without syncope or chest pain. There was no family history of HCM or sudden death. A two dimensional echocardiogram revealed an asymmetric type of LV hypertrophy; anterior ventricular septum = 49 mm; posterior ventricular septum = 20 mm; anterolateral free wall = 12 mm; and posterior free wall = 6 mm. The patient had 2 types of obstruction; a LV outflow obstruction due to systolic anterior motion of both mitral leaflets (Doppler-estimated 38 mm Hg gradient at rest; and a midventricular obstruction (Doppler-estimated 43 mm Hg gradient, but without apical aneurysm or dyskinesia. The patient had a normal blood pressure response on exercise test and no episodes of non-sustained ventricular tachycardia in 24-h ECG recording. Cardiac MRI showed a gross late enhancement at the hypertrophied septum. Based on the extreme degree of LV hypertrophy and the myocardial hyperenhancement, an implantation of a cardioverter-defibrillator was recommended prophylactically for primary prevention of sudden death. Conclusion Midventricular HCM is an infrequent phenotype, but may be associated with an apical aneurysm and progression to systolic dysfunction (end-stage HCM.

  20. genetics and molecular diagnosis of cardiomyopathy

    African Journals Online (AJOL)

    Enrique

    This article reviews the impact of new genetic information on the clinical manage- ment of patients and families with hypertrophic cardiomyopathy (HCM) and famil- ial dilated cardiomyopathy (DCM). WHAT IS KNOWN ABOUT THE GENETIC BASIS OF HYPERTROPHIC. CARDIOMYOPATHY? HCM is characterised ...

  1. HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY

    Directory of Open Access Journals (Sweden)

    A. G. Osiev

    2015-01-01

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

  2. Gender differences in alcoholic cardiomyopathy.

    Science.gov (United States)

    Fernández-Solà, Joaquim; Nicolás-Arfelis, Josep Maria

    2002-01-01

    The incidence, presentation, clinical features, and evolution of several cardiomyopathies have clear gender-related differences. In general, women show a different response to noxious cardiac agents than men, and they differ in myocardial adaptation to a variety of cardiac insults. Specifically in alcohol-induced heart disease, women have shown different alcohol metabolism features and distinct pathophysiologic mechanisms leading to a higher sensitivity to alcohol-induced heart damage. In preclinical alcohol-induced ventricular dysfunction, women were more sensitive to the toxic effects of ethanol than men. In overt alcoholic cardiomyopathy, women showed about the same prevalence of cardiomyopathy as men, despite having consumed far less ethanol. This supports a greater female propensity to alcohol-induced cardiac damage.

  3. 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 reduced...... beta-receptor function seem involved in the autonomic and cardiac dysfunction. Cirrhotic cardiomyopathy can be revealed by tissue Doppler imaging but is best demasked by physical or pharmacological stress. Liver transplantation may revert cardiac dysfunction but surgery and shunt insertion may also...... aggravate the condition. Moreover, cirrhotic cardiomyopathy may contribute to heart failure after invasive procedures and to development of hepatic nephropathy as part of a cardiorenal syndrome. Whether beta-blockers have a deleterious effect in this clinical situation remains to be settled....

  4. 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.

  5. Restrictive Cardiomyopathy in a Child

    Directory of Open Access Journals (Sweden)

    Shan-Miao Lin

    2008-04-01

    Full Text Available Restrictive cardiomyopathy in young children is rare and carries a poor prognosis. We report an 18-month-old girl with poor feeding and abdominal distension. Except for hepatomegaly, no other gastrointestinal abnormalities were found. She had normalsized ventricles but biatrial enlargement. Echocardiography demonstrated normal systolic but impaired diastolic function. Cardiac catheterization revealed a characteristic dip-and-plateau configuration of the right ventricular pressure tracing. The diagnosis turned out to be typical restrictive cardiomyopathy. The patient was maintained on aspirin while awaiting cardiac transplant.

  6. TREATMENT OF PERIPARTUM CARDIOMYOPATHY (REVIEW

    Directory of Open Access Journals (Sweden)

    N. T. Vatutin

    2017-01-01

    Full Text Available The presented review concerns discussion about current insights into treatment of peripartum cardiomyopathy. The definition of peripartum cardiomyopathy and general issues about diagnosis and pathogenesis of the disorder are provided at the head of the review. Particularly, the role of the system «prolactin — cathepsin D — prolactin 16 kDa» in cardiomyopathy development is disclosed. The general approaches to management of the patients are highlighted. The review provides detailed data about indications, adverse effects and derived clinical experience concerning the main pharmacological drugs which had been used in peripartum cardiomyopathy treatment given their possible unfavorable influence on fetus maturation and maternal lactation. The detailed description is provided on diuretics including loop, thiazide and potassium-sparing drugs. It was noted relative safety and efficiency of nitrates and hydralazine in conditions of limited choice from vasodilator group and, particularly, angiotensinconverting-enzyme inhibitors and angiotensin-II receptor blockers which are contraindicated in pregnancy. A special attention is paid to the group of inotropic drugs: levosimendan, milrinone, and cardiac glycosides. The role of β-blockers and ivabradine is disclosed in heart failure treatment of peripartum cardiomyopathy. Anticoagulants were presented in details given that these drugs are justified in severe cardiac chambers dilation, decrease in ejection fraction, and in presence of intracardiac thrombosis. The place of antiarrhythmic drugs administrating in various cardiac rhythm disorders is discussed in the review. The data is given with account of potential influence on fetus in antenatal peripartum cardiomyopathy in which lidocaine and sotalol are the most preferable drugs; adenosine, quinidine, and flecainide are useful with caution, but amiodarone and dronedarone are absolutely contraindicated. Taking into account proposed pathogenic

  7. Adriamycin-induced cardiomyopathy can serve as a model for diabetic cardiomyopathy – a hypothesis

    Directory of Open Access Journals (Sweden)

    Kaviyarasi Renu

    2017-11-01

    Full Text Available Diabetic cardiomyopathy is one of the life threatening complications of diabetes. A number of animal models are being used for studying diabetic cardiomyopathy. In laboratory animal models, induction of cardiomyopathy happens in two stages: first being the induction of diabetic condition and the second being the induction of cardiomyopathy by prolonging diabetic condition. It takes a longer time to develop diabetes with the limited success rate for development of cardiomyopathy. Adriamycin is an effective anti-cancer drug limited by its major side-effect cardiomyopathy. A number of features of Adriamycin treatment mimics diabetes. We postulate that Adriamycin-induced cardiomyopathy might be used as a model system to study diabetic cardiomyopathy in rodents since a number of features of both the cardiomyopathies overlap. Left ventricular hypertrophy, systolic and diastolic dysfunction, myofibrillar loss, and fibrosis are hallmarks of both of the cardiomyopathies. At the molecular level, calcium signaling, endoplasmic reticulum stress, advance glycation endproduct activation, mitochondrial dysfunction, inflammation, lipotoxicity and oxidative stress are similar in both the cardiomyopathies. The signature profile of both the cardiomyopathies shares commonalities. In conclusion, we suggest that Adriamycin induced cardiomyopathic animal model can be used for studying diabetic cardiomyopathy and would save time for researchers working on cardiomyopathy developed in rodent using the traditional method.

  8. Cardiomyopathy, familial dilated

    Directory of Open Access Journals (Sweden)

    Mestroni Luisa

    2006-07-01

    Full Text Available Abstract Dilated cardiomyopathy (DCM is a heart muscle disease characterized by ventricular dilatation and impaired systolic function. Patients with DCM suffer from heart failure, arrhythmia, and are at risk of premature death. DCM has a prevalence of one case out of 2500 individuals with an incidence of 7/100,000/year (but may be under diagnosed. In many cases the disease is inherited and is termed familial DCM (FDC. FDC may account for 20–48% of DCM. FDC is principally caused by genetic mutations in FDC genes that encode for cytoskeletal and sarcomeric proteins in the cardiac myocyte. Family history analysis is an important tool for identifying families affected by FDC. Standard criteria for evaluating FDC families have been published and the use of such criteria is increasing. Clinical genetic testing has been developed for some FDC genes and will be increasingly utilized for evaluating FDC families. Through the use of family screening by pedigree analysis and/or genetic testing, it is possible to identify patients at earlier, or even presymptomatic stages of their disease. This presents an opportunity to invoke lifestyle changes and to provide pharmacological therapy earlier in the course of disease. Genetic counseling is used to identify additional asymptomatic family members who are at risk of developing symptoms, allowing for regular screening of these individuals. The management of FDC focuses on limiting the progression of heart failure and controlling arrhythmia, and is based on currently accepted treatment guidelines for DCM. It includes general measures (salt and fluid restriction, treatment of hypertension, limitation of alcohol intake, control of body weight, moderate exercise and pharmacotherapy. Cardiac resynchronization, implantable cardioverter defibrillators and left ventricular assist devices have progressively expanding usage. Patients with severe heart failure, severe reduction of the functional capacity and depressed

  9. Negative and positive association rules mining from text using frequent and infrequent itemsets.

    Science.gov (United States)

    Mahmood, Sajid; Shahbaz, Muhammad; Guergachi, Aziz

    2014-01-01

    Association rule mining research typically focuses on positive association rules (PARs), generated from frequently occurring itemsets. However, in recent years, there has been a significant research focused on finding interesting infrequent itemsets leading to the discovery of negative association rules (NARs). The discovery of infrequent itemsets is far more difficult than their counterparts, that is, frequent itemsets. These problems include infrequent itemsets discovery and generation of accurate NARs, and their huge number as compared with positive association rules. In medical science, for example, one is interested in factors which can either adjudicate the presence of a disease or write-off of its possibility. The vivid positive symptoms are often obvious; however, negative symptoms are subtler and more difficult to recognize and diagnose. In this paper, we propose an algorithm for discovering positive and negative association rules among frequent and infrequent itemsets. We identify associations among medications, symptoms, and laboratory results using state-of-the-art data mining technology.

  10. Living with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Subasic, Kim

    2013-12-01

    The purpose of this study is to provide an insider's account of what it is like to live with hypertrophic cardiomyopathy (HCM), a genetic cardiovascular illness that carries the risk for sudden cardiac death. This study aims to reveal how HCM impacts the family and guides the decision whether or not to pursue genetic testing, how the physical limitations associated with HCM alter being-in-the-world, and how HCM alters social relationships. Fifteen adults with HCM were recruited for a longitudinal, phenomenological, qualitative study through purposive sampling and word of mouth. A total of 45 interviews were conducted by the researcher at a time and place designated by the participant between August 2011 and January 2012. The first interview with each participant was conducted in person. While efforts were made to conduct all interviews in person, a total of three interviews were conducted by telephone as requested by three participants due to scheduling conflicts. Through methods of interpretive phenomenology, three audio-recorded, semistructured interviews occurred over the course of 3 months. Detailed narratives were solicited and transcribed verbatim. Methodological and analytical documentation was supported with the identification of key phrases, similar experiences, themes, and documentation of the rationale for decisions throughout the research process. Participation in genetic testing carries a multitude of personal, familial, financial, and emotional implications. The results of a genetic test elicited an emotional response regardless of whether the results were negative, positive, or inconclusive. Living with a potentially life-threatening illness altered identity, disrupted social relationships, and generated chronic fear and uncertainty. A new normal was re-ordered or transformed by the demands and limitations posed by HCM, and by the person's concerns, priorities, and the meaning of the illness. Results from this study underscore the need for healthcare

  11. Classification, Epidemiology, and Global Burden of Cardiomyopathies.

    Science.gov (United States)

    McKenna, William J; Maron, Barry J; Thiene, Gaetano

    2017-09-15

    In the past 25 years, major advances were achieved in the nosography of cardiomyopathies, influencing the definition and taxonomy of this important chapter of cardiovascular disease. Nearly, 50% of patients dying suddenly in childhood or adolescence or undergoing cardiac transplantation are affected by cardiomyopathies. Novel cardiomyopathies have been discovered (arrhythmogenic, restrictive, and noncompacted) and added to update the World Health Organization classification. Myocarditis has also been named inflammatory cardiomyopathy. Extraordinary progress accomplished in molecular genetics of inherited cardiomyopathies allowed establishment of dilated cardiomyopathy as mostly cytoskeleton, force transmission disease; hypertrophic-restrictive cardiomyopathies as sarcomeric, force generation disease; and arrhythmogenic cardiomyopathy as desmosome, cell junction disease. Channelopathies (short and long QT, Brugada, and catecholaminergic polymorphic ventricular tachycardia syndromes) should also be considered cardiomyopathies because of electric myocyte dysfunction. Cardiomyopathies are easily diagnosed but treated only with palliative pharmacological or invasive therapy. Curative therapy, thanks to insights into the molecular pathogenesis, has to target the fundamental mechanisms involved in the onset and progression of these conditions. © 2017 American Heart Association, Inc.

  12. 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

    BACKGROUND: Recommendations for presymptomatic screening of relatives of cardiomyopathy patients are based on findings from tertiary centers. Cardiomyopathy inheritance patterns are fairly well understood, but how cardiomyopathy in younger persons (... at the population level is unclear. In a nationwide cohort, we examined the risk of cardiomyopathy by family history of premature death (cardiomyopathy. METHODS AND RESULTS: By linking Danish national register data, we constructed a cohort of 3.9 million persons born from 1950 to 2008. We...... ascertained family history of premature (cardiomyopathy or other conditions, and cohort members were followed from 1977 to 2008 for cardiomyopathy diagnosed at cardiomyopathies in 89 million person-years of follow-up. Using Poisson regression, we estimated...

  13. Role of cardiac MRI in nonischemic cardiomyopathies.

    Science.gov (United States)

    Anand, Senthil; Janardhanan, Rajesh

    2016-01-01

    Cardiac magnetic resonance (CMR) with its higher spatial resolution is considered the gold standard for evaluating ventricular mass, volumes, and ejection fraction. CMR can be used for accurate diagnosis of several conditions, especially cardiomyopathies. The purpose of this article is to review the utility of CMR in the diagnosis and management of nonischemic cardiomyopathies. We have reviewed both common and rare types of nonischemic cardiomyopathies in detail and elaborated on the specific CMR findings in each. We believe that CMR is an invaluable tool, not only in differentiating nonischemic from ischemic cardiomyopathy, but also in aiding the accurate diagnosis and management of the subtype of nonischemic cardiomyopathy. CMR should routinely be integrated in the diagnostic workup of various cardiomyopathies. Published by Elsevier B.V.

  14. 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.

  15. Determinants of Thyrotoxic Cardiomyopathy Recovery

    Science.gov (United States)

    Oliveros-Ruiz, Lucia; Vallejo, Maite; Diez Canseco, L. Fernando; Cárdenas, Manuel; Hermosillo, J. Antonio G.

    2013-01-01

    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. PMID:24106705

  16. Peripartum Cardiomyopathy: Euro Observational Research Program

    NARCIS (Netherlands)

    M.F. Hoes; I.M. van Hagen (Iris); F. Russo; D.J. van Veldhuisen (Dirk); M.P. van den Berg (Maarten); J.W. Roos-Hesselink (Jolien); K.Y. van Spaendonck-Zwarts (Karin); P. van der Meer (Peter)

    2014-01-01

    textabstractPeripartum 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

  17. Arrythmogenic right ventricular dysplasia/cardiomyopathy | Scholtz ...

    African Journals Online (AJOL)

    Arrythmogenic right ventricular dysplasia/cardiomyopathy (ARVD) is a familial cardiomyopathy characterised clinically by right ventricular (RV) dysfunction as well ... can occur and appears to correlate with increased disease severity.3,4 Owing to the complexity of the disease, Task Force Criteria for diagnosis of ARVD were ...

  18. Dilated cardiomyopathy: diagnostic accuracy of endomyocardial biopsy

    NARCIS (Netherlands)

    Yonesaka, S.; Becker, A. E.

    1987-01-01

    A histopathological index of contractility failure, which was reported to be accurate for the diagnosis of idiopathic dilated or congestive cardiomyopathy in Japan, was used to assess endomyocardial biopsy specimens from 41 Dutch patients with suspected dilated cardiomyopathy. The calculated index

  19. Acute gastritis-induced Takotsubo's cardiomyopathy.

    Science.gov (United States)

    Villablanca, Pedro A; Sukhal, Shashvat; Ansari, Asimul; Mohammed, Dergham

    2013-12-01

    A 50-year-old lady presented with epigastralgia, electrocardiogram (ECG) showed T-wave inversions and the echocardiogram low ejection fraction (EF) with apical ballooning. An esophagogastroduodenoscopy (EGD) revealed gastritis. She recovered with proton pump inhibitors treatment. This is the first case that describes gastritis-induced stress cardiomyopathy. Clinicians should be aware of Takotsubo's cardiomyopathy (TCM) as a possible complication of gastritis.

  20. 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

  1. 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.

    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

  2. Role of Echocardiography in Takotsubo Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Ming-Jui Hung

    2016-01-01

    Full Text Available Takotsubo cardiomyopathy is a reversible left ventricular dysfunction and characterized by reversible electrocardiographic ST-T segment changes. Cardiac imaging is the key to make an initial impression of takotsubo cardiomyopathy and follow-up images confirms the diagnosis of takotsubo cardiomyopathy. Because of the availability and feasibility in acute medical care, echocardiography plays an important role in the assessment of patients with takotsubo cardiomyopathy. With advances in the area of myocardial deformation imaging technique, two-dimensional speckle-tracking echocardiography allows the assessment of multidirectional and layer-specific quantification of left ventricular deformation. Left ventricular ejection fraction more precisely measures geometric changes of the ventricle rather than the contractile function of the myocardium. Therefore, it is suggested that standard echocardiography combined with two-dimensional speckle-tracking echocardiography should be used to evaluate cardiac muscular function especially in takotsubo cardiomyopathy because the diagnosis requires serial evaluation.

  3. 40 CFR 1033.535 - Adjusting emission levels to account for infrequently regenerating aftertreatment devices.

    Science.gov (United States)

    2010-07-01

    ... aftertreatment technology with infrequent regeneration events that occur during testing. See paragraph (e) of... adjust discrete-mode testing. For this section, “regeneration” means an intended event during which... section, “infrequent” refers to regeneration events that are expected to occur on average less than once...

  4. Comparison of the microbial composition of voice prosthesis biofilms from patients requiring frequent versus infrequent replacement

    NARCIS (Netherlands)

    Elving, GJ; Van Der Mei, HC; Van Weissenbruch, R; Busscher, HJ; Albers, FWJ

    This study was performed to establish a possible difference in biofilm composition in patients who require frequent versus infrequent prosthesis replacement. Only Groningen button voice prostheses that were removed because of increased airflow resistance or leakage of food or liquids through the

  5. Cardiomyopathies and the Armed Forces.

    Science.gov (United States)

    Holdsworth, D A; Cox, A T; Boos, C; Hardman, R; Sharma, S

    2015-09-01

    Cardiomyopathies are a group of heterogeneous myocardial diseases that are frequently inherited and are a recognised cause of premature sudden cardiac death in young individuals. Incomplete expressions of disease and the overlap with the physiological cardiac manifestations of regular intensive exercise create diagnostic challenges in young athletes and military recruits. Early identification is important because sudden death in the absence of prodromal symptoms is a common presentation, and there are several therapeutic strategies to minimise this risk. This paper examines the classification and clinical features of cardiomyopathies with specific reference to a military population and provides a detailed account of the optimum strategy for diagnosis, indications for specialist referral and specific guidance on the occupational significance of cardiomyopathy. A 27-year-old Lance Corporal Signaller presents to his Regimental medical officer (RMO) after feeling 'light-headed' following an 8 mile unloaded run. While waiting to see the RMO, the medical sergeant records a 12-lead ECG. The ECG is reviewed by the RMO immediately prior to the consultation and shows voltage criteria for left ventricular (LV) hypertrophy and inverted T-waves in II, III, aVF and V1-V3 (Figure 1). This Lance Corporal is a unit physical training instructor and engages in >10 h of aerobic exercise per week. He is a non-smoker and does not have any significant medical history. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  6. Imaging Phenotype vs. Genotype in Non-Hypertrophic Heritable Cardiomyopathies: Dilated Cardiomyopathy and Arrhythmogenic Right Ventricular Cardiomyopathy

    Science.gov (United States)

    Raman, Subha V.; Basso, Cristina; Tandri, Harikrishna; Taylor, Matthew R. G.

    2011-01-01

    Advances in cardiovascular imaging increasingly afford unique insights into heritable myocardial disease. As clinical presentation of genetic cardiomyopathies may range from nonspecific symptoms to sudden cardiac death, accurate diagnosis has implications for individual patients as well as related family members. The initial consideration of genetic cardiomyopathy may occur in the imaging laboratory, where one must recognize the patient with arrhythmogenic right ventricular cardiomyopathy (ARVC) among the many with ventricular arrhythmia referred to define myocardial substrate. Accurate diagnosis of the patient presenting with dyspnea and palpitations whose first-degree relatives have lamin A/C cardiomyopathy may warrant genetic testing1, 2 plus imaging of diastolic function and myocardial fibrosis3. As advances in cardiac imaging afford detection of subclinical structural and functional changes, the imaging specialist must be attuned to signatures of specific genetic disorders. With increased availability of both advanced imaging as well as genotyping techniques, this review seeks to provide cardiovascular imaging specialists and clinicians with the contemporary information needed for more precise diagnosis and treatment of heritable myocardial disease. A companion paper in this series covers imaging phenotype and genotype considerations in hypertrophic cardiomyopathy (HCM). This review details clinical features, imaging phenotype and current genetic understanding for two of the most common non-HCM conditions that prompt myocardial imaging - dilated cardiomyopathy (DCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC). While all modalities are considered herein, considerable focus is given to CMR with its unique capabilities for myocardial tissue characterization. PMID:21081743

  7. 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.

  8. Subendocardial ischemia in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Kawasaki, Tatsuya; Sugihara, Hiroki

    2014-02-01

    Hypertrophic cardiomyopathy (HCM) patients often develop subendocardial ischemia in the left ventricle without atherosclerotic coronary stenosis. Myocardial ischemia plays an important role in the pathophysiology of HCM, but diagnostic techniques for the detection of subendocardial ischemia have not been widely available. We developed specific techniques to quantify subendocardial ischemia on stress scintigraphy, and have compared the results with various clinical features in patients with HCM. This article reviews our understanding of subendocardial ischemia in HCM based on more than 20 years of experience. Copyright © 2013 Japanese College of Cardiology. Published by Elsevier Ltd. All rights reserved.

  9. [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.

  10. [Diabetic cardiomyopathy. Pathophysiology and clinical implications].

    Science.gov (United States)

    Karnafel, W

    2000-01-01

    The accumulating body of data indicate that the occurrence of diabetic cardiomyopathy is an independent phenomenon from macroangiographic changes in coronary arteries and hypertension. Results from animal studies, human histological results and clinical observations provided support for this phenomenon. Although the clinical symptoms have been identified, however, the pathogenesis of diabetic cardiomyopathy is uncertain. The definition of diabetic cardiomyopathy describes both specific defects in the myocytes from diabetics and associated changes in the heart which have developed during the course of diabetes. The following defects in myocytes have been identified and are postulated to contribute to diabetic cardiomyopathy: The changes in carbohydrates metabolism, in fatty-acid metabolism, calcium and potassium transport, microvascular narrowing and micro aneurysms, hypertrophy, defects in collagen structure, myocardial fibrosis and perivascular fibrosis, abnormalities in conducting system, the decrease in the function of autonomic nerves. The clinical presentation of diabetic cardiomyopathy lead to the description of two phases of the disease. First, asymptomatic diabetic subjects with subclinical abnormalities of the left-ventricular diastolic function, measured by Doppler echocardiography. In the second phase--clinically evident diabetic cardiomyopathy is described by congestive cardiac failure without evident arteriosclerotic changes in coronary arteries and hypertension. Diabetic cardiomyopathy can be diagnosed early after the onset of diabetes mellitus and is independent phenomenon from late diabetic complications. The main cause of mortality in diabetic subjects is largely due to macroangiopathic changes in the coronary arteries (evaluated by coronarography), not the heart failure.

  11. Diagnostic work-up in cardiomyopathies

    DEFF Research Database (Denmark)

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

    2013-01-01

    a framework for the clinical approach to diagnosis in cardiomyopathies based on the recognition of diagnostic 'red flags' that can be used to guide rational selection of specialized tests including genetic analysis. The basic premise is that the adoption of a cardiomyopathy-specific mindset which combines......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...

  12. Cardiomyopathy due to ingestion of Adderall.

    Science.gov (United States)

    Marks, Donald H

    2008-01-01

    A patient is described who developed cardiomyopathy after receiving a therapeutic course of dextroamphetamine/amphetamine. The patient's cardiac function deteriorated to the point of heart failure, necessitating a heart transplantation. Cardiomyopathy associated with amphetamine use is a serious and potentially lethal condition. With early diagnosis, identification of the cause, and treatment, cardiomyopathy may be reversible. The dangers of therapeutic use of amphetamines are discussed, as well as problems and assumptions associated with U.S. Food and Drug Administration monitoring and removal from the market of harmful substances.

  13. Does Body Mass Index Predict Premature Cardiomyopathy Onset for Duchenne Muscular Dystrophy?

    Science.gov (United States)

    McKane, Meghann; Soslow, Jonathan H; Xu, Meng; Saville, Benjamin R; Slaughter, James C; Burnette, W Bryan; Markham, Larry W

    2017-04-01

    Duchenne muscular dystrophy leads to cardiomyopathy. The objective of this study was to estimate the association of body mass index with cardiomyopathy onset. Cardiomyopathy was defined as left ventricular ejection fraction Duchenne muscular dystrophy subjects and age of cardiomyopathy onset.

  14. Importance of genetic evaluation and testing in pediatric cardiomyopathy

    Science.gov (United States)

    Tariq, Muhammad; Ware, Stephanie M

    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 genotype-phenotype correlations may help delineate the molecular and cellular events necessary to identify potential novel therapeutic targets for heart muscle dysfunction in children. PMID:25429328

  15. Exercise-induced left bundle branch block: an infrequent phenomenon: Report of two cases

    Science.gov (United States)

    Said, Salah AM; Bultje-Peters, Marisa; Nijhuis, Rogier LG

    2013-01-01

    Exercise-induced left bundle branch block (EI-LBBB) is infrequent phenomenon. We present two patients with angina pectoris who developed EI-LBBB during exercise tolerance test. The first patient with typical angina pectoris had significant obstructive coronary artery disease (CAD) requiring percutaneous coronary intervention of multiple lesions including placement of drug eluting stents. The second patient had atypical chest pain without signs of CAD at all. EI-LBBB occurred at a heart rate of 80 bpm and 141 bpm in the first and second patient, respectively. EI-LBBB remained visible through the test till the recovery period in the first patient at a heart rate of 83 bpm and disappeared at 96 bpm in the second patient. Both patients with this infrequent phenomenon are discussed and the literature is reviewed. PMID:24109500

  16. [Ventricular tachyarrhythmias in patients with cardiomyopathy

    DEFF Research Database (Denmark)

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

    2008-01-01

    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...... 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...... by disease, gender, age, previous cardiac arrest and treatment with implantable cardioverter-defibrillator (ICD). RESULTS: 993 patients were screened and 128 patients with cardiomyopathy were identified, corresponding to 13% of the screened patients. 58 (45%) of the patients had dilated cardiomyopathy (DCM...

  17. 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.)

  18. Incremental and infrequent hemodialysis: a new paradigm for both dialysis initiation and conservative management.

    Science.gov (United States)

    Rhee, Connie M; Ghahremani-Ghajar, Mehrdad; Obi, Yoshitsugu; Kalantar-Zadeh, Kamyar

    2017-06-01

    Registry or national dialysis data show that a sizeable proportion of contemporary dialysis patients have substantial levels of residual kidney function especially upon transitioning to dialysis therapy. However, among incident hemodialysis patients, the prevailing paradigm has been to initiate "full-dose" triweekly treatment schedules irrespective of native kidney function in most developed countries. Recognizing the benefits of residual kidney function upon the health and survival of dialysis patients, there has been growing interest in incremental hemodialysis, in which dialysis frequency and dose are tailored according to the degree of patients' residual kidney function. Infrequent hemodialysis can also be used for those who prefer a more conservative approach in managing uremia. Clinical practice guidelines support the use of twice-weekly hemodialysis among patients with adequate residual kidney function (renal urea clearance >3 mL/min/1.73 m2), and a growing body of evidence indicates that incremental hemodialysis is associated with better preservation of residual kidney function without adversely impacting survival. Nonetheless, incremental hemodialysis remains an underutilized approach in this population. In this review, we will discuss the history of the twice- versus triweekly hemodialysis schedules; current clinical practice guidelines regarding infrequent hemodialysis; emerging data on incremental treatment regimens and outcomes; and guidelines for the practical implementation of incremental and infrequent hemodialysis in the clinical setting.

  19. Cardiomyopathie hypertrophique neonatale de diagnostic etiologique difficile

    OpenAIRE

    Rania Hammami; Sana Ouali; Ilyes Naffeti; Sami Hammas; Slim Kacem; Rim Gribaa; Fahmi Remedi; Essia Boughzela

    2011-01-01

    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 regr...

  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. Acute gastritis-induced Takotsubo's cardiomyopathy

    OpenAIRE

    Pedro A Villablanca; Sukhal, Shashvat; Ansari, Asimul; Mohammed, Dergham

    2013-01-01

    Key Clinical Message A 50-year-old lady presented with epigastralgia, electrocardiogram (ECG) showed T-wave inversions and the echocardiogram low ejection fraction (EF) with apical ballooning. An esophagogastroduodenoscopy (EGD) revealed gastritis. She recovered with proton pump inhibitors treatment. This is the first case that describes gastritis-induced stress cardiomyopathy. Clinicians should be aware of Takotsubo's cardiomyopathy (TCM) as a possible complication of gastritis.

  2. 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.

  3. Research advances in cirrhotic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    ZHANG Shirong

    2016-05-01

    Full Text Available Cirrhotic cardiomyopathy (CCM refers to the abnormalities in cardiac structure and function in patients with liver cirrhosis. The pathogenesis of CCM involves the apoptosis of cardiomyocytes, impaired β-receptors, and increased levels of cardiodepressant factors such as nitric oxide, carbon monoxide, endocannabinoids, bacterial endotoxins, and inflammatory mediators. At present, there are no unified diagnostic criteria for CCM, and a clinical diagnosis can be made based on clinical manifestation, plasma brain natriuretic peptide, N-terminal pro-brain natriuretic peptide, electrocardiographic findings, ultrasound findings, and the results of cardiac magnetic resonance imaging. The treatment of CCM involves controlling liver cirrhosis and protecting the myocardium, and the best therapeutic method is liver transplantation at the right time.

  4. 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.

  5. Population-Based Variation in Cardiomyopathy Genes

    Science.gov (United States)

    Golbus, Jessica R.; Puckelwartz, Megan J.; Fahrenbach, John P.; Dellefave-Castillo, Lisa M.; Wolfgeher, Don; McNally, Elizabeth M.

    2012-01-01

    Background Hypertrophic cardiomyopathy and dilated cardiomyopathy arise from mutations in genes encoding sarcomere proteins including MYH7, MYBPC3, and TTN. Genetic diagnosis of cardiomyopathy relies on complete sequencing of the gene coding regions, and most pathogenic variation is rare. The 1000 Genomes project is an ongoing consortium designed to deliver whole genome sequence information from an ethnically diverse population and therefore is a rich source to determine both common and rare genetic variants. Methods and Results We queried the 1000 Genomes database of 1,092 individuals for exonic variants within three sarcomere genes MHY7, MYBPC3, and TTN. We focused our analysis on protein-altering variation, including nonsynonymous single nucleotide polymorphisms, insertion/deletion polymorphisms, or splice site altering variants. We identified known and predicted pathogenic variation in MYBPC3 and MYH7 at a higher frequency than what would be expected based on the known prevalence of cardiomyopathy. We also found substantial variation, including protein-disrupting sequences, in TTN. Conclusions Cardiomyopathy is a genetically heterogeneous disorder caused by mutations in multiple genes. The frequency of predicted pathogenic protein altering variation in cardiomyopathy genes suggests that many of these variants may be insufficient to cause disease on their own but may modify phenotype in a genetically susceptible host. This is suggested by the high prevalence of TTN insertion/deletions in the 1000 Genomes cohort. Given the possibility of additional genetic variants that modify the phenotype of a primary driver mutation, broad-based genetic testing should be employed. PMID:22763267

  6. Cardiomyopathy in Congenital and Acquired Generalized Lipodystrophy

    Science.gov (United States)

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

    2011-01-01

    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. PMID:20616664

  7. Diabetic Cardiomyopathy: An Immunometabolic Perspective

    Directory of Open Access Journals (Sweden)

    Paras K. Mishra

    2017-04-01

    Full Text Available The heart possesses a remarkable inherent capability to adapt itself to a wide array of genetic and extrinsic factors to maintain contractile function. Failure to sustain its compensatory responses results in cardiac dysfunction, leading to cardiomyopathy. Diabetic cardiomyopathy (DCM is characterized by left ventricular hypertrophy and reduced diastolic function, with or without concurrent systolic dysfunction in the absence of hypertension and coronary artery disease. Changes in substrate metabolism, oxidative stress, endoplasmic reticulum stress, formation of extracellular matrix proteins, and advanced glycation end products constitute the early stage in DCM. These early events are followed by steatosis (accumulation of lipid droplets in cardiomyocytes, which is followed by apoptosis, changes in immune responses with a consequent increase in fibrosis, remodeling of cardiomyocytes, and the resultant decrease in cardiac function. The heart is an omnivore, metabolically flexible, and consumes the highest amount of ATP in the body. Altered myocardial substrate and energy metabolism initiate the development of DCM. Diabetic hearts shift away from the utilization of glucose, rely almost completely on fatty acids (FAs as the energy source, and become metabolically inflexible. Oxidation of FAs is metabolically inefficient as it consumes more energy. In addition to metabolic inflexibility and energy inefficiency, the diabetic heart suffers from impaired calcium handling with consequent alteration of relaxation–contraction dynamics leading to diastolic and systolic dysfunction. Sarcoplasmic reticulum (SR plays a key role in excitation–contraction coupling as Ca2+ is transported into the SR by the SERCA2a (sarcoplasmic/endoplasmic reticulum calcium-ATPase 2a during cardiac relaxation. Diabetic cardiomyocytes display decreased SERCA2a activity and leaky Ca2+ release channel resulting in reduced SR calcium load. The diabetic heart also suffers from

  8. Cardiomyopathy

    Science.gov (United States)

    ... Diagnosis & treatment Doctors & departments Care at Mayo Clinic Advertisement Mayo Clinic does not endorse companies or products. ... a Job Site Map About This Site Twitter Facebook Google YouTube Pinterest Mayo Clinic is a not- ...

  9. Cardiomyopathy

    Science.gov (United States)

    ... Z Appointments Patient & Visitor Guide Billing & Insurance Patient Online Services Departments & Centers Meet the Staff Find a directory ... available for medical professionals. Get updates. . Provider Relations Online Services for Referring Physicians Video Center Publications Continuing Medical ...

  10. 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

  11. 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, Mariëlle; 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

    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. We collected 18 families with PPCM and DCM cases from various countries. We studied the clinical

  12. Cardiomyopathy in a dish: using human inducible pluripotent stem cells to model inherited cardiomyopathies.

    Science.gov (United States)

    Kamdar, Forum; Klaassen Kamdar, Andre; Koyano-Nakagawa, Naoko; Garry, Mary G; Garry, Daniel J

    2015-09-01

    Inherited cardiomyopathies, including hypertrophic cardiomyopathy, dilated cardiomyopathies, arrythmogenic right ventricular cardiomyopathy, and other inherited forms of heart failure, represent a unique set of genetically defined cardiovascular disease processes. Unraveling the molecular mechanisms of these deadly forms of human heart disease has been challenging, but recent groundbreaking scientific advances in stem cell technology have allowed for the generation of patient-specific human inducible stem cell (hiPSC)-derived cardiomyocytes (CMs). hiPSC-derived CMs retain the genetic blueprint of the patient, they can be maintained in culture, and they recapitulate the phenotypic characteristics of the disease in vitro, thus serving as a disease in a dish. This review provides an overview of in vitro modeling of inherited cardiomyopathies with the use of patient-specific hiPSC-derived CMs. Copyright © 2015. Published by Elsevier Inc.

  13. [Hereditary cardiomyopathies: a review. Mutation of structural proteins a common cause of hereditary cardiomyopathy].

    Science.gov (United States)

    Sjöberg, Gunnar; Kostareva, Anna; Sejersen, Thomas

    Cardiomyopathy is a disorder of the cardiac muscle and can be either primary or secondary. The primary disorders have been classified by WHO into 4 groups based on structure and function; hypertrophic, dilated and restricted cardiomyopathies and arrythmogenic right ventricle dysplasia. During the last decade the familial nature of many of these cardiomyopathies has been elucidated and different genes have been found to be mutated and causative of disease. Certain patterns can be distinguished in the mutated genes, e.g. in general the genes causing hypertrophic cardiomyopathies code for proteins involved in the contractile apparatus, the sarcomere, and the genes causing dilated cardiomyopathy code for proteins that anchor the sarcomere to the cell membrane and extracellular matrix. This article reviews these recent genetic findings and discusses their potential clinical applicability.

  14. Genetics Home Reference: dilated cardiomyopathy with ataxia syndrome

    Science.gov (United States)

    ... Testing Registry: 3-methylglutaconic aciduria type V Other Diagnosis and Management Resources (4 links) Ann & Robert H. Lurie Children's Hospital of Chicago: Cardiomyopathy Baby's First Test MedlinePlus Encyclopedia: Dilated Cardiomyopathy National ...

  15. 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.

    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

  16. Matters of the heart: genetic and molecular characterisation of cardiomyopathies

    NARCIS (Netherlands)

    Posafalvi, Anna

    2015-01-01

    In dit proefschrift werden verschillende aspecten van de genetische achtergrond van cardiomyopathie onderzocht, een groep van erfelijke hartafwijkingen. Cardiomyopathie ontwikkelt zich meestal op volwassen leeftijd, en kan zich uiten met verschillende symptomen. Sommige patiënten hebben

  17. 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

  18. 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

    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

  19. Genetics Home Reference: X-linked dilated cardiomyopathy

    Science.gov (United States)

    ... JP. Clinical utility gene card for: dilated cardiomyopathy (CMD). Eur J Hum Genet. 2013 Oct;21(10). ... JP. Clinical utility gene card for: dilated cardiomyopathy (CMD). Eur J Hum Genet. 2013 Oct;21(10). ...

  20. A systematic review of clozapine induced cardiomyopathy.

    Science.gov (United States)

    Alawami, Mohammed; Wasywich, Cara; Cicovic, Aleksandar; Kenedi, Christopher

    2014-09-20

    Clozapine is a unique anti-psychotic medication that is most effective in the treatment of refractory schizophrenia and reducing suicidality. Cardiomyopathy is among the side effects of this medication that limits its use. There are a number of case reports, case series and expert opinion papers discussing clozapine induced cardiomyopathy, but there is no evidence-based review of the subject to guide clinicians. We undertook a systematic review of the literature on cardiomyopathy associated with clozapine. The primary systemic search was in MEDLINE but EMBASE, PsycINFO, and Cochrane were searched and manufacturers of clozapine were contacted for cases. Articles were then individually reviewed to find additional reports. We identified 17 articles detailing 26 individual cases and 11 additional articles without individual case data. The mean age at time of diagnosis was 33.5 years. The mean dose of clozapine on presentation was 360 mg. Symptoms developed at an average of 14.4 months after initiating clozapine. The clinical presentation was generally consistent with heart failure: including shortness of breath (60%) and palpitations (36%). Echocardiography at presentation showed dilated cardiomyopathy in 39% of cases and was not specified in other cases. There should be a low threshold in performing echocardiography in suspected cases of clozapine induced cardiomyopathy. Clozapine should be withheld in the setting of cardiomyopathy without other explanation. There is limited data on the safety of drug re-challenge in clozapine induced cardiomyopathy. Re-challenge may be considered in carefully selected cases but close monitoring and frequent echocardiography are required. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  1. Infrequent Reservoir‐Related Complications of Urologic Prosthetics: A Case Series and Literature Review

    Directory of Open Access Journals (Sweden)

    Tao Cui, MD

    2015-12-01

    Conclusion: Complications involving urologic prosthesis reservoirs, although rare, can have serious implications for patients. A high index of suspicion and familiarity with treatment options is required in order to allow timely diagnosis and appropriate treatment. Patients with prior major abdominal surgeries seem to be more prone to intestinal complications of reservoirs and warrant special concern. Cui T, Terlecki R, and Mirzazadeh M. Infrequent reservoir‐related complications of urologic prosthetics: A case series and literature review. Sex Med 2015;3:334–338.

  2. 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.)

  3. Apical Hypertrophic Cardiomyopathy in Association with PulmonaryArtery Hypertension

    Directory of Open Access Journals (Sweden)

    Mehdi Peighambari

    2012-09-01

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

  4. Apical Hypertrophic Cardiomyopathy in Association with Pulmonary Artery Hypertension

    OpenAIRE

    Peighambari, Mehdi; Parsaei, Mozghan; Sadeghpour, Anita; Alizadehasl, Azin

    2012-01-01

    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.

  5. Tako-tsubo cardiomyopathy: Case study | Mohamed | Libyan ...

    African Journals Online (AJOL)

    Tako-tsubo cardiomyopathy (transient left ventricular apical ballooning) is a reversible form of cardiomyopathy of unknown etiology. Tako-tsubo Cardiomyopathy (TTC) is typically precipitated by sudden emotional or physical stress, and is associated with excessive sympathetic stimulation and catecholamine release.

  6. Cardiac MRI in restrictive cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Gupta, A. [Department of Cardiovascular Radiology, All India Institute of Medical Sciences, Ansari Nagar, Delhi (India); Singh Gulati, G., E-mail: gulatigurpreet@rediffmail.com [Department of Cardiovascular Radiology, All India Institute of Medical Sciences, Ansari Nagar, Delhi (India); Seth, S. [Department of Cardiology, All India Institute of Medical Sciences, Ansari Nagar, Delhi (India); Sharma, S. [Department of Cardiovascular Radiology, All India Institute of Medical Sciences, Ansari Nagar, Delhi (India)

    2012-02-15

    Restrictive cardiomyopathy (RCM) is a specific group of heart muscle disorders characterized by inadequate ventricular relaxation during diastole. This leads to diastolic dysfunction with relative preservation of systolic function. Although short axis systolic function is usually preserved in RCM, the long axis systolic function may be severely impaired. Confirmation of diagnosis and information regarding aetiology, extent of myocardial damage, and response to treatment requires imaging. Importantly, differentiation from constrictive pericarditis (CCP) is needed, as only the latter is managed surgically. Echocardiography is the initial cardiac imaging technique but cannot reliably suggest a tissue diagnosis; although recent advances, especially tissue Doppler imaging and spectral tracking, have improved its ability to differentiate RCM from CCP. Cardiac catheterization is the reference standard, but is invasive, two-dimensional, and does not aid myocardial characterization. Cardiac magnetic resonance (CMR) is a versatile technique providing anatomical, morphological and functional information. In recent years, it has been shown to provide important information regarding disease mechanisms, and also been found useful to guide treatment, assess its outcome and predict patient prognosis. This review describes the CMR features of RCM, appearances in various diseases, its overall role in patient management, and how it compares with other imaging techniques.

  7. Strength Gains as a Result of Brief, Infrequent Resistance Exercise in Older Adults

    Directory of Open Access Journals (Sweden)

    James Fisher

    2014-01-01

    Full Text Available Chronological aging is associated with a decrease in skeletal muscle mass and bone mineral density, an increase in fat mass, frequency of falls and fractures, and the likelihood of obesity, diabetes, and coronary heart disease. Resistance exercise has been shown to counter all of these effects of aging and, in turn, reduce the risk of all-cause mortality. However, variables such as volume and frequency have become contentious issues, with recent publications suggesting that similar physiological adaptations are possible with both high- and low-volume approaches. The aim of this research was to consider strength increases as a result of brief, infrequent resistance exercise. The present study offers data from 33 (14 male and 19 female older adults (M=55 years who underwent brief (<15 minutes per exercise session, infrequent (2×/week, resistance exercise to a high intensity of effort (6-repetition maximum at a controlled repetition duration (10 seconds concentric : 10 seconds eccentric on 5 resistance machines (chest press, leg press, pull-down, seated row, and overhead press. Data is presented for training interventions of 12 weeks (male and 19 weeks (female. Significant strength increases were identified for all exercises. With the detailed health benefits obtainable, the present study suggests that resistance exercise can be efficacious in much smaller volumes than previously considered.

  8. Infrequent enuresis, the uninvestigated majority comparisons between children with enuresis of varying severity.

    Science.gov (United States)

    Cederblad, Maria; Sarkadi, Anna; Engvall, Gunn; Nevéus, Tryggve

    2015-02-01

    The main objective was to compare children with frequent enuresis (FE) and children with infrequent enuresis (IE) using anamnestic data and variables related to bladder and kidney function. A secondary aim was to look at the group of children who wet their beds every single night, a phenomenon we chose to call constant enuresis (CE). The parents recorded the number of wet and dry nights for a period of 14 days, and measured the voided volumes as well as nocturnal urine production for 48 h. History data relevant to bladder and bowel function was also recorded. The children could be grouped as follows: IE, n = 14; FE, n = 18; and CE, n = 22. The children with IE were slightly older than the other groups, IE mean 7.57; FE mean 6.22; CE, mean 6.56 (p = 0.004). When comparing the groups in terms of the measured parameters, only one significant difference was found: the FE group had larger average daytime voided volumes, but only when the first morning void was included. The only significantly differing anamnestic variable was previous daytime incontinence, which was more common among the children in the IE group. When comparing children with varying enuresis severity, no major differences regarding bladder function and urine production were found. Furthermore, children with infrequent enuresis tend to be slightly older when they seek medical help. Copyright © 2014. Published by Elsevier Ltd.

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

    Science.gov (United States)

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

    2014-05-01

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

  10. Cardiomyopathie hypertrophique neonatale de diagnostic etiologique difficile

    Directory of Open Access Journals (Sweden)

    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.

  11. Lipotoxicity in type 2 diabetic cardiomyopathy.

    Science.gov (United States)

    van de Weijer, Tineke; Schrauwen-Hinderling, Vera B; Schrauwen, Patrick

    2011-10-01

    As obesity and type 2 diabetes are becoming an epidemic in westernized countries, the incidence and prevalence of obesity- and diabetes-related co-morbidities are increasing. In type 2 diabetes ectopic lipid accumulation in the heart has been associated with cardiac dysfunction and apoptosis, a process termed lipotoxicity. Since cardiovascular diseases are the main cause of death in diabetic patients, diagnosis and treatment become increasingly important. Although ischaemic heart disease is a major problem in diabetes, non-ischaemic heart disease (better known as diabetic cardiomyopathy) becomes increasingly important with respect to the impairment of cardiac function and mortality in type 2 diabetes. The underlying aetiology of diabetic cardiomyopathy is incompletely understood but is beginning to be elucidated. Various mechanisms have been proposed that may lead to lipotoxicity. Therefore, this review will focus on the mechanisms of cardiac lipid accumulation and its relation to the development of cardiomyopathy.

  12. Clinical Characteristics and Outcomes of Takotsubo Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Jen-Li Looi

    2016-01-01

    Full Text Available Takotsubo cardiomyopathy (TC is a transient, reversible form of cardiomyopathy which predominantly affects post-menopausal women and is an important differential diagnosis of acute coronary syndrome. It is characterised by normal (or near-normal coronary arteries, regional wall motion abnormalities that extend beyond a single coronary vascular bed, and often proceeded by a stressful event. The pathophysiologic mechanism is complex and remains to be elucidated. There is increasing awareness among physicians about TC and hence, more cases are being reported. The diagnosis of TC has important clinical implications in the management at presentation and afterward. In this review, we discuss the demographics, clinical features, prognosis and management of this cardiomyopathy.

  13. Role of Cardiac MR Imaging in Cardiomyopathies.

    Science.gov (United States)

    Kramer, Christopher M

    2015-06-01

    Cardiac MR imaging has made major inroads in the new millennium in the diagnosis and assessment of prognosis for patients with cardiomyopathies. Imaging of left and right ventricular structure and function and tissue characterization with late gadolinium enhancement (LGE) as well as T1 and T2 mapping enable accurate diagnosis of the underlying etiology. In the setting of coronary artery disease, either transmurality of LGE or contractile reserve in response to dobutamine can assess the likelihood of recovery of function after revascularization. The presence of scar reduces the likelihood of a response to medical therapy and to cardiac resynchronization therapy in heart failure. The presence and extent of LGE relate to overall cardiovascular outcome in cardiomyopathies. A major role for cardiac MR imaging in cardiomyopathies is to identify myocardial scar for diagnostic and prognostic purposes. © 2015 by the Society of Nuclear Medicine and Molecular Imaging, Inc.

  14. The Role of CMR in Cardiomyopathies

    Science.gov (United States)

    Kramer, Christopher M.

    2015-01-01

    Cardiac magnetic resonance imaging (CMR) has made major inroads in the new millenium in the diagnosis and assessment of prognosis for patients with cardiomyopathies. Imaging of left and right ventricular structure and function and tissue characterization with late gadolinium enhancement (LGE) as well as T1 and T2 mapping enable accurate diagnosis of the underlying etiology. In the setting of coronary artery disease, either transmurality of LGE or contractile reserve in response to dobutamine can assess the likelihood of recovery of function after revascularization. The presence of scar reduces the likelihood of response to medical therapy and to cardiac resynchronization therapy in heart failure. The presence and extent of LGE relate to overall cardiovascular outcome in cardiomyopathies. An emerging major role for CMR in cardiomyopathies is to identify myocardial scar for diagnostic and prognostic purposes. PMID:26033902

  15. Recurrent Syncope, a Clue in Amyloid Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Julian A. Marin-Acevedo

    2018-01-01

    Full Text Available Infiltrative cardiomyopathies include a variety of disorders that lead to myocardial thickening resulting in a constellation of clinical manifestations and eventually heart failure that could be the first clue to reach the diagnosis. Among the more described infiltrative diseases of the heart is amyloid cardiomyopathy. The disease usually presents with subtle, nonspecific symptoms. Herein, we illustrate a case of recurrent syncope as the initial presenting symptom for systemic amyloid with polyneuropathy and cardiomyopathy as a cause of syncope. The article illustrates the role of advanced cardiac imaging in the diagnosis of the disease with a focused literature review. We also highlight the role of early, shared decision-making between patient, family, and medical team in the management of cardiac amyloidosis.

  16. Exercise Prescription for the Athlete with Cardiomyopathy.

    Science.gov (United States)

    Saberi, Sara; Day, Sharlene M

    2016-11-01

    Inherited cardiomyopathies have highly variable expression in terms of symptoms, functional limitations, and disease severity. Associated risk of sudden cardiac death is also variable. International guidelines currently recommend restriction of all athletes with cardiomyopathy from participation in competitive sports. While the guidelines are necessarily conservative because predictive risk factors for exercise-triggered SCD have not been clearly identified, the risk is clearly not uniform across all athletes and all sports. The advent of implantable cardioverter defibrillators, automated external defibrillators, and successful implementation of emergency action plans may safely mitigate risk of sudden cardiac death during physical activity. An individualized approach to risk stratification of athletes that recognizes patient autonomy may allow many individuals with cardiomyopathies to safely train and compete. Copyright © 2016 Elsevier Inc. All rights reserved.

  17. [Inflammatory cardiomyopathy: state-of-the-art].

    Science.gov (United States)

    Beliavskiĭ, E A; Zykov, K A; Narusov, O Iu; Masenko, V P; Skvortsov, A A; Shchedrina, A Iu; Tereshchenko, S N

    2010-01-01

    Cardiomyopathy (CMP) is a major cause of early disability and death in young cardiac patients, remaining at the same time a little studied problem. The generally accepted term "dilated cardiomyopathy" is only a portrayal of morphological signs. As of now, the foreign literature most commonly uses the term "inflammatory cardiomyopathy" to denote CMP caused by viral and/or bacterial agents. Owing to the wide use of novel laboratory and instrumental diagnostic techniques, namely: molecular genetic and immunohistochemical studies and endomyocardial biopsy, there has been a possibility to conduct a more accurate and fuller study of inflammatory CMP. Despite the fact that the problems in nosology, classification, choice of the optimal diagnostic methods and management tactics for these patients.

  18. Alcohol-related cardiomyopathy in the Seychelles.

    Science.gov (United States)

    Pinn, G; Bovet, P

    1991-10-21

    To determine the frequency and features of alcohol-related cardiomyopathy in the Seychelles. The study was multifaceted investigation involving: a randomised cross-sectional survey of drinking habits in the general population; a cross-sectional survey of blood alcohol levels in patients admitted to hospital; a prospective case series of all consecutive patients hospitalised with alcohol-related cardiomyopathy; a retrospective review of medical records; and an analysis of volatile oils and trace metals in alcoholic drinks. Data on drinking habits were obtained from a randomised sample of 1309 adults from the total population of the Seychelles (66,000). All clinical data were obtained from patients in the Victoria Hospital, which is the single reference hospital of the country. Hospitalised patients with alcohol-related cardiomyopathy were treated initially with vitamin B1 and/or diuretics. The survey of alcohol habits revealed that 75% of the male population were regular alcohol consumers, with 19% of men consuming more than 100 g of alcohol per day. The estimated annual consumption of alcohol per capita was 26.4 L for men and 3.5 L for women. The survey of blood alcohol levels showed that 28% of male and 13% of female patients had raised alcohol levels at hospital admission. Throughout 1989, 96 patients were diagnosed as having alcohol-related cardiomyopathy and 12 of these had beriberi. The majority of young patients responded with marked diuresis within four hours of a single administration of thiamine. Overall, one-third of all male medical admissions were due to alcohol-related disease. The pathological effects of alcohol consumption were detected in 47% of autopsies and in 20% there was evidence of alcohol-related cardiomyopathy. These findings confirm the high frequency of alcohol-related disease in general and cardiomyopathy in particular.

  19. Rachitic hypocalcemic cardiomyopathy in an infant

    Directory of Open Access Journals (Sweden)

    Abdelwahab T.H. Elidrissy

    2017-04-01

    Full Text Available Cardiomyopathy in infants is characterized by heart failure in apparently normal children without previous organic cardiac lesions. Cardiomyopathy has been found to comprise four types. Rickets is common in Saudi Arabia, that is why I reviewed this subject. Recently this case with classical features of rickets being admitted in a serious state we thought of publishing it. The infant responded well to treatment and full recovery was achieved. Follow up biochemistry, radiology cardiac function completely recovered and bony abnormalities showed evidence of healing. This case might have been missed as respiratory infection. We recommend meticulous look for biochemical features of rickets in infants admitted with respiratory symptoms.

  20. Multimodality imaging in apical hypertrophic cardiomyopathy

    Science.gov (United States)

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

    2014-01-01

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

  1. Arrhythmogenic Noncompaction Cardiomyopathy: Is There an Echocardiographic Phenotypic Overlap of Two Distinct Cardiomyopathies?

    Science.gov (United States)

    Aras, Dursun; Ozeke, Ozcan; Cay, Serkan; Ozcan, Firat; Baser, Kazım; Dogan, Umuttan; Unlu, Murat; Demirkan, Burcu; Tufekcioglu, Omac; Topaloglu, Serkan

    2015-09-01

    The clinical diagnosis of right ventricular (RV) cardiomyopathies is often challenging. It is difficult to differentiate the isolated left ventricular (LV) noncompaction cardiomyopathy (NC) from biventricular NC or from coexisting arrhythmogenic ventricular cardiomyopathy (AC). There are currently few established morphologic criteria for the diagnosis other than RV dilation and presence of excessive regional trabeculation. The gross and microscopic changes suggest pathological similarities between, or coexistence of, RV-NC and AC. Therefore, the term arrhythmogenic right ventricular cardiomyopathy is somewhat misleading as isolated LV or biventricular involvement may be present and thus a broader term such as AC should be preferred. We describe an unusual case of AC associated with a NC in a 27-year-old man who had a history of permanent pacemaker 7 years ago due to second-degree atrioventricular block.

  2. Neuroendocrine tumors: fascination and infrequency Tumores neuroendocrinos: fascinación e infrecuencia

    Directory of Open Access Journals (Sweden)

    M. J. Varas Lorenzo

    2009-03-01

    Full Text Available In this article, I review and update of gastro-entero-pancreatic neuroendocrine tumors, which so much fascination have risen among healthcare providers on grounds of their infrequency, hormonal syndromes, and high survival rate, is performed based on references from the past fifteen years.Se efectúa una revisión y puesta al día, basándose en citas bibliográficas de los últimos quince años, de los tumores neuroendocrinos gastroenteropancreáticos, que tanta fascinación han provocado en el estamento médico por su infrecuencia, síndromes hormonales y supervivencia elevada.

  3. Severe pseudomonal keratitis in an infrequent daily disposable contact lens wearer.

    Science.gov (United States)

    Batta, Priti; Goldstein, Michael H

    2010-05-01

    To report an unusual case of contact lens-associated pseudomonal keratitis in a compliant daily disposable contact lens wearer. A case report is presented of a compliant daily disposable contact lens wearer who developed culture-positive pseudomonal keratitis. A 38-year-old woman who reported compliant and infrequent use of daily disposable contact lenses presented with rapid-onset, severe keratitis consistent with pseudomonal infection. Corneal cultures were positive for Pseudomonas aeruginosa. She had no identifiable risk factors, although notably had a remote history of contact lens-associated keratitis in the fellow eye. Although extremely rare, pseudomonal keratitis should still be considered in the differential diagnosis of severe keratitis in daily disposable contact lens wearers. Given the history of a previous contact lens-related bacterial keratitis in this compliant patient, it is possible that host susceptibility factors played a role in the case of pseudomonal keratitis described here.

  4. 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.

  5. New test for arrhythmogenic right ventricular cardiomyopathy

    NARCIS (Netherlands)

    van Tintelen, J. Peter; Hauer, Richard N. W.

    Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is challenging to diagnose because of nonspecific findings, particularly in the early phases of the disease. clinical diagnosis is made on the basis of several criteria, but these lack sensitivity. Asimaki et al. suggest that

  6. New test for arrhythmogenic right ventricular cardiomyopathy

    NARCIS (Netherlands)

    van Tintelen, J. Peter; Hauer, Richard N. W.

    2009-01-01

    Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is challenging to diagnose because of nonspecific findings, particularly in the early phases of the disease. clinical diagnosis is made on the basis of several criteria, but these lack sensitivity. Asimaki et al. suggest that

  7. Restrictive cardiomyopathy. Report of seven cases

    Directory of Open Access Journals (Sweden)

    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.

  8. La cardiomyopathie dilatee au centre hospitalier Universitaire ...

    African Journals Online (AJOL)

    La cardiomyopathie dilatee au centre hospitalier Universitaire Tokoin de Lome : A propos de 74 cas hospitalises. ... Le traitement médical a fait appel aux diurétiques (85,1%), aux inhibiteurs de l'enzyme de conversion de l'angiotensine (83,8%) et aux digitaliques (55,4%). Des antiarythmiques, des antiaggrégants ...

  9. Contractile Dysfunction in Sarcomeric Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    MacIver, David H; Clark, Andrew L

    2016-09-01

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

  10. 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...

  11. Fabry Disease in Families With Hypertrophic Cardiomyopathy

    DEFF Research Database (Denmark)

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

    2017-01-01

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

  12. Pregnancy in women with hypertrophic cardiomyopathy

    NARCIS (Netherlands)

    Pieper, P. G.; Walker, F.

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

  13. Alcohol septal ablation for obstructive hypertrophic cardiomyopathy

    NARCIS (Netherlands)

    Steggerda, Robbert

    2015-01-01

    Hypertrophic cardiomyopathy is an inhered heart disease characterised by a thickened heart muscle, common in 1:500 persons. Obstruction of blood flow in the heart due the thickened heart muscle can occur and cause dyspnoea. A heart surgeon can cut away part of the thickened muscle (myectomy). With

  14. Hypertrophic Cardiomyopathy: Pathophysiology, Genetics and Invasive Treatment

    NARCIS (Netherlands)

    M. Michels (Michelle)

    2011-01-01

    textabstractHypertrophic cardiomyopathy (HCM) is the most common inheritable cardiac disorder with a phenotypic prevalence of 1:500. It is defined by the presence of left ventricular hypertrophy (LVH) in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed

  15. Clinical and molecular classification of cardiomyopathies

    Science.gov (United States)

    Cecchi, Franco; Tomberli, Benedetta; Olivotto, Iacopo

    2012-01-01

    Abstract 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. PMID:25610835

  16. Diagnosis and management of inherited cardiomyopathies.

    Science.gov (United States)

    Millar, Lynne; Sharma, Sanjay

    2014-10-01

    Inherited heart conditions are the most common cause of sudden cardiac death in those under the age of 35 and the leading cause of non-traumatic death in young athletes. Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease affecting 1 in 500 of the population. Some patients may exhibit severe left ventricular hypertrophy, others may show nothing more than an abnormal ECG. Left ventricular hypertrophy most commonly manifests in the second decade of life. Sudden death is rare and usually affects patients in the first three decades whereas older patients present with heart failure, atrial fibrillation and stroke. Arrhythmogenic right ventricular cardiomyopathy is a rare, autosomal dominant heart muscle disorder which affects between 1 in 1,000 and 1 in 5,000 of the population. Dilated cardiomyopathy (DCM) is characterised by a dilated left ventricle with impaired function that cannot be explained by ischaemic heart disease, hypertension or valvular heart disease. At least 25% of cases of DCM are familial. DCM may be associated with multisystem conditions such as muscular dystrophy. Chemotherapy and certain other drugs, alcohol abuse and myocarditis may also lead to a dilated and poorly contracting left ventricle. In many cases the first manifestation of an inherited cardiomyopathy can be a sudden cardiac arrest. Other presentations include chest pain or breathlessness during exertion, palpitations and syncope. In many of the cardiomyopathies, the diagnosis can be made with a standard ECG and echocardiogram. However if the diagnosis is not certain or the cardiologist wishes to look at the heart structure in greater detail, a cardiac MRI may be performed.

  17. A Systematic Review of Phenotypic Features Associated With Cardiac Troponin I Mutations in Hereditary Cardiomyopathies

    DEFF Research Database (Denmark)

    Mogensen, Jens; Hey, Thomas; Lambrecht, Sascha

    2015-01-01

    BACKGROUND: Genetic investigations have established that mutations in proteins of the contractile unit of the myocardium, known as the sarcomere, may be associated with hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), and dilated cardiomyopathy (DCM). It has become clinical pr...

  18. Differentiating cardiomyopathy of coronary artery disease from nonischemic dilated cardiomyopathy utilizing positron emission tomography

    Energy Technology Data Exchange (ETDEWEB)

    Mody, F.V.; Brunken, R.C.; Stevenson, L.W.; Nienaber, C.A.; Phelps, M.E.; Schelbert, H.R. (Univ. of California, Los Angeles (USA))

    1991-02-01

    To determine if imaging of blood flow (using N-13 ammonia) and glucose metabolism (using F-18 2-deoxyglucose) with positron emission tomography can distinguish cardiomyopathy of coronary artery disease from nonischemic dilated cardiomyopathy, 21 patients with severe left ventricular dysfunction who were evaluated for cardiac transplantation were studied. The origin of left ventricular dysfunction had been previously determined by coronary angiography to be ischemic (11 patients) or nonischemic (10 patients). Images were visually analyzed by three observers on a graded scale in seven left ventricular segments and revealed fewer defects in dilated cardiomyopathy compared with ischemic cardiomyopathy for N-13 ammonia (2.7 +/- 1.6 versus 5 +/- 0.6; p less than 0.03) and F-18 deoxyglucose (2.8 +/- 2.1 versus 4.6 +/- 1.1; p less than 0.03). An index incorporating extent and severity of defects revealed more homogeneity with fewer and less severe defects in subjects with nonischemic than in those with ischemic cardiomyopathy as assessed by imaging of flow (2.8 +/- 1.8 versus 9.2 +/- 3; p less than 0.001) and metabolism (3.8 +/- 3.3 versus 8.5 +/- 3.6; p less than 0.005). Diagnostic accuracy for distinguishing the two subgroups by visual image analysis was 85%. Using previously published circumferential count profile criteria, patients with dilated cardiomyopathy had fewer ischemic segments (0.4 +/- 0.8 versus 2.5 +/- 2 per patient; p less than 0.01) and infarcted segments (0.1 +/- 0.3 versus 2.4 +/- 1.4 per patient; p less than 0.001) than did patients with cardiomyopathy of coronary artery disease. The sensitivity for differentiating the two clinical subgroups using circumferential profile analysis was 100% and the specificity 80%.

  19. Ischemic cardiomyopathy: lack of clinical applicability of the WHO/ISFC classification of cardiomyopathies.

    Science.gov (United States)

    Boffa, G M; Tarantini, G; Abbasciano, A; Razzolini, R; Chioin, R; Thiene, G

    2001-10-01

    The classification of cardiomyopathies proposed by the WHO/ISFC Task Force defines ischemic cardiomyopathy as "a dilated cardiomyopathy with impaired contractile performance not explained by the extent of coronary disease or ischemic damage". The aim of this study was to verify the clinical applicability of the WHO/ISFC definition of ischemic cardiomyopathy. Retrospective analysis of the clinical characteristics of patients with a left ventricular ejection fraction 50% of a distal portion of a main coronary artery or of a secondary branch. The patients with a clinical diagnosis of previous myocardial infarction were excluded. Fourteen patients with the angiographic characteristics listed above were identified. Twelve patients were males, mean age 59 years. They represented 3.8% of all the patients with left systolic ventricular dysfunction who underwent coronary angiography in the same period. The left ventricular end-diastolic volume was 170 +/- 45 ml/m2 and the ejection fraction was 27 +/- 6%. The cause of systolic left ventricular dysfunction was systemic arterial hypertension in 3 patients, diabetes mellitus in 2, a combination of these diseases in 4, chronic alcohol abuse in 1, a previous clinically silent myocardial infarction in 1, and idiopathic dilated cardiomyopathy in 3. In conclusion, in all our patients with severe left ventricular dysfunction which was not explained by the extent of coronary artery disease, at least one possible cause of impaired contractile performance could be identified. Thus the definition of ischemic cardiomyopathy according to the new WHO/ISFC classification of cardiomyopathies appears to be of scarce utility on clinical grounds and should be redefined and if necessary reclassified.

  20. Risk of Cardiomyopathy in Younger Persons With a Family History of Death from Cardiomyopathy: A Nationwide Family Study in a Cohort of 3.9 Million Persons.

    Science.gov (United States)

    Ranthe, Mattis F; Carstensen, Lisbeth; Øyen, Nina; Jensen, Morten K; Axelsson, Anna; Wohlfahrt, Jan; Melbye, Mads; Bundgaard, Henning; Boyd, Heather A

    2015-09-15

    Recommendations for presymptomatic screening of relatives of cardiomyopathy patients are based on findings from tertiary centers. Cardiomyopathy inheritance patterns are fairly well understood, but how cardiomyopathy in younger persons (cardiomyopathy by family history of premature death (cardiomyopathy. By linking Danish national register data, we constructed a cohort of 3.9 million persons born from 1950 to 2008. We ascertained family history of premature (cardiomyopathy or other conditions, and cohort members were followed from 1977 to 2008 for cardiomyopathy diagnosed at cardiomyopathies in 89 million person-years of follow-up. Using Poisson regression, we estimated 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 cardiomyopathy increased 100-fold; given ≥2 premature deaths in first-degree relatives, the rate increased more than 400-fold. In contrast, a family history of premature death from other cardiac or noncardiac conditions increased the rate of cardiomyopathy 3-fold at most. A family history of premature cardiomyopathy death was associated with an increase in risk of cardiomyopathy ranging from 6- to 400-fold, depending on age, kinship, gender and number of affected family members. Our general population-based results support recommendations for presymptomatic screening of relatives of cardiomyopathy patients. © 2015 American Heart Association, Inc.

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

    Science.gov (United States)

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

    2014-04-01

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

  2. Takotsubo cardiomyopathy in a healthy twenty year old

    OpenAIRE

    Abela, Mark; Felice, Herbert

    2013-01-01

    Takotsubo cardiomyopathy, also known as Transient apical ballooning syndrome, stress-induced cardiomyopathy and broken-heartsyndrome, is a rare non-ischemic cardiomyopathy that presents as an acute coronary syndrome without evidence of obstructive atherosclerotic coronary disease. Its name is derived from the Japanese Takotsubo – an octopus trap, resembling the elliptical shape of the very typical akinetic left ventricular apex during systole on imaging stu...

  3. Cell culture media supplementation of infrequently used sugars for the targeted shifting of protein glycosylation profiles.

    Science.gov (United States)

    Hossler, Patrick; Racicot, Christopher; Chumsae, Christopher; McDermott, Sean; Cochran, Keith

    2017-03-01

    Mammalian cells in culture rely on sources of carbohydrates to supply the energy requirements for proliferation. In addition, carbohydrates provide a large source of the carbon supply for supporting various other metabolic activities, including the intermediates involved in the protein glycosylation pathway. Glucose and galactose, in particular, are commonly used sugars in culture media for these purposes. However, there exists a very large repertoire of other sugars in nature, and many that have been chemically synthesized. These sugars are particularly interesting because they can be utilized by cells in culture in distinct ways. In the present work it has been found that many infrequently used sugars, and the corresponding cellular response towards them as substrates, led to differences in the protein N-glycosylation profile of a recombinant glycoprotein. The selective media supplementation of raffinose, trehalose, turanose, palatinose, melezitose, psicose, lactose, lactulose, and mannose were found to be capable of redirecting N-glycan oligosaccharide profiles. Despite this shifting of protein glycosylation, there were no other adverse changes in culture performance, including both cell growth and cellular productivity over a wide range of supplemented sugar concentrations. The approach presented highlights a potential means towards both the targeted shifting of protein glycosylation profiles and ensuring recombinant protein comparability, which up to this point in time has remained under-appreciated for these under-utilized compounds. © 2017 American Institute of Chemical Engineers Biotechnol. Prog., 33:511-522, 2017. © 2017 American Institute of Chemical Engineers.

  4. Cardiomyopathy Phenotypes and Outcomes for Children With Left Ventricular Myocardial Noncompaction: Results From the Pediatric Cardiomyopathy Registry.

    Science.gov (United States)

    Jefferies, John L; Wilkinson, James D; Sleeper, Lynn A; Colan, Steven D; Lu, Minmin; Pahl, Elfriede; Kantor, Paul F; Everitt, Melanie D; Webber, Steven A; Kaufman, Beth D; Lamour, Jacqueline M; Canter, Charles E; Hsu, Daphne T; Addonizio, Linda J; Lipshultz, Steven E; Towbin, Jeffrey A

    2015-11-01

    Left ventricular noncompaction (LVNC) is a distinct form of cardiomyopathy characterized by hypertrabeculation of the left ventricle. The LVNC phenotype may occur in isolation or with other cardiomyopathy phenotypes. Prognosis is incompletely characterized in children. According to diagnoses from the National Heart, Lung, and Blood Institute-funded Pediatric Cardiomyopathy Registry from 1990 to 2008, 155 of 3,219 children (4.8%) had LVNC. Each LVNC patient was also classified as having an associated echocardiographically diagnosed cardiomyopathy phenotype: dilated (DCM), hypertrophic (HCM), restrictive (RCM), isolated, or indeterminate. The time to death or transplantation differed among the phenotypic groups (P = .035). Time to listing for cardiac transplantation significantly differed by phenotype (P diagnosis. LVNC is present in at least 5% of children with cardiomyopathy. The specific LVNC-associated cardiomyopathy phenotype predicts the risk of death or transplantation and should inform clinical management. Copyright © 2015 Elsevier Inc. All rights reserved.

  5. 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.

  6. Cardiomyopathies: Evolution of pathogenesis concepts and potential for new therapies

    Science.gov (United States)

    Sisakian, Hamayak

    2014-01-01

    Cardiomyopathies are defined as diseases of the myocardium with associated structural and functional abnormalities. Knowledge of these pathologies for a long period was not clear in clinical practice due to uncertainties regarding definition, classification and clinical diagnosis. In recent decades, major advances have been made in the understanding of the molecular and genetic issues, pathophysiology, and clinical and radiological assessment of the diseases. Progress has been made also in management of several types of cardiomyopathy. Advances in the understanding of these diseases show that cardiomyopathies represent complex entities. Here, special attention is given to evolution of classification of cardiomyopathies, with the aim of assisting clinicians to look beyond schematic diagnostic labels in order to achieve more specific diagnosis. Knowledge of the genotype of cardiomyopathies has changed the pathophysiological understanding of their etiology and clinical course, and has become more important in clinical practice for diagnosis and prevention of cardiomyopathies. New approaches for clinical and prognostic assessment are provided based on contemporary molecular mechanisms of contribution in the pathogenesis of cardiomyopathies. The genotype-phenotype complex approach for assessment improves the clinical evaluation and management strategies of these pathologies. The review covers also the important role of imaging methods, particularly echocardiography, and cardiac magnetic resonance imaging in the evaluation of different types of cardiomyopathies. In summary, this review provides complex presentation of current state of cardiomyopathies from genetics to management aspects for cardiovascular specialists. PMID:24976920

  7. 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.

  8. Outcomes of acute myocardial infarction in patients with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Gupta, Tanush; Harikrishnan, Prakash; Kolte, Dhaval; Khera, Sahil; Aronow, Wilbert S; Mujib, Marjan; Palaniswamy, Chandrasekar; Sule, Sachin; Jain, Diwakar; Ahmed, Ali; Lanier, Gregg M; Cooper, Howard A; Frishman, William H; Fonarow, Gregg C; Panza, Julio A

    2015-08-01

    Acute myocardial infarction is a recognized complication in patients with hypertrophic cardiomyopathy. However, limited data are available on outcomes of patients with hypertrophic cardiomyopathy and acute myocardial infarction. We analyzed the 2003-2011 Nationwide Inpatient Sample databases to identify all patients aged ≥18 years with a principal diagnosis of acute myocardial infarction. Patients with a concomitant diagnosis of hypertrophic cardiomyopathy were then identified and analyzed as a separate cohort. Multivariate logistic regression was used to compare outcomes in patients with acute myocardial infarction with and without hypertrophic cardiomyopathy. Of 5,901,827 patients with acute myocardial infarction, 5688 (0.1%) had a diagnosis of hypertrophic cardiomyopathy. Patients with hypertrophic cardiomyopathy were older, more likely to be female, and less likely to have traditional cardiovascular risk factors. Compared with patients without hypertrophic cardiomyopathy, patients with hypertrophic cardiomyopathy were less likely to present with ST-elevation myocardial infarction and more likely to present with non-ST-elevation myocardial infarction. Patients with hypertrophic cardiomyopathy with ST-elevation myocardial infarction or non-ST-elevation myocardial infarction were less likely to receive revascularization. In the overall population with acute myocardial infarction, there was no difference in risk-adjusted in-hospital mortality between patients with and without hypertrophic cardiomyopathy (odds ratio [OR], 0.96; 95% confidence interval [CI], 0.84-1.11; P = .59). In the population with ST-elevation myocardial infarction, patients with hypertrophic cardiomyopathy had lower risk-adjusted in-hospital mortality than those without hypertrophic cardiomyopathy (OR, 0.75; 95% CI, 0.63-0.91; P = .003), whereas in the population with non-ST-elevation myocardial infarction, there was no difference in risk-adjusted in-hospital mortality between patients with

  9. Predictors and Therapy of Cardiomyopathy Caused by Frequent Ventricular Ectopy.

    Science.gov (United States)

    Dabbagh, Ghaith Sharaf; Bogun, Frank

    2017-09-01

    The aim of this review is to describe predictors and therapeutic principles for PVC-induced cardiomyopathy. PVC-induced cardiomyopathy is a treatable condition resulting in a reversible form of cardiomyopathy. PVC-induced cardiomyopathy has only recently been recognized as an entity that causes a reversible form of cardiomyopathy. The mechanism of development of PVC-induced cardiomyopathy has not yet been elucidated, although dyssynchrony appears to play a major role. Multiple factors have been described that are independently associated with PVC-induced cardiomyopathy. Predictors of PVC-induced cardiomyopathy include PVC prevalence, epicardial origin, male gender, longer symptom duration and asymptomatic status, presence of interpolated PVCs, lack of circadian variability, and a broader PVC-QRS width. In the presence of cardiomyopathy, work-up for structural heart disease and its etiology should be performed, followed by aggressive attempts at PVC reduction. There is evidence that ablation therapy is superior to medical therapy for frequent PVCs, but treatment decisions need to be individualized depending on the patients symptoms, PVC prevalence, PVC origin, patients comorbidities, and patient preference. The potential of sudden cardiac death associated with the presence of structural heart disease needs to be recognized, and appropriate risk stratification is mandatory.

  10. Stress cardiomyopathy: diagnosis, pathophysiology, management, and prognosis.

    Science.gov (United States)

    Sharma, Ajay K; Singh, Jagmeet P; Heist, E Kevin

    2011-09-01

    Stress cardiomyopathy is now a well-recognized reversible cardiomyopathy, with a clinical presentation mimicking Acute Coronary syndrome in the absence of significant coronary artery disease. It is often encountered in postmenopausal females and is usually precipitated by acute emotional or physical stressors. In this review, we have attempted to summarize relevant data regarding diagnosis, typical and atypical presentations, pathophysiology, management options, and prognosis. Typically, patients present with chest pain and shortness of breath, transient electrocardiographic changes, moderate troponin elevation, and are found to have wall motion abnormalities (apical and midventricular akinesis with preserved basal segment systolic function) without obstructive coronary lesions, with complete resolution in next few weeks. The precise pathophysiology remains unclear, but excessive catecholamine stimulation, metabolic disturbances, and dysfunction of microcirculation are thought to be the underlying mechanisms.

  11. Targets for therapy in sarcomeric cardiomyopathies.

    Science.gov (United States)

    Tardiff, Jil C; Carrier, Lucie; Bers, Donald M; Poggesi, Corrado; Ferrantini, Cecilia; Coppini, Raffaele; Maier, Lars S; Ashrafian, Houman; Huke, Sabine; van der Velden, Jolanda

    2015-04-01

    To date, no compounds or interventions exist that treat or prevent sarcomeric cardiomyopathies. Established therapies currently improve the outcome, but novel therapies may be able to more fundamentally affect the disease process and course. Investigations of the pathomechanisms are generating molecular insights that can be useful for the design of novel specific drugs suitable for clinical use. As perturbations in the heart are stage-specific, proper timing of drug treatment is essential to prevent initiation and progression of cardiac disease in mutation carrier individuals. In this review, we emphasize potential novel therapies which may prevent, delay, or even reverse hypertrophic cardiomyopathy caused by sarcomeric gene mutations. These include corrections of genetic defects, altered sarcomere function, perturbations in intracellular ion homeostasis, and impaired myocardial energetics. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2015. For permissions please email: journals.permissions@oup.com.

  12. Non-compaction cardiomyopathy – brief review

    Directory of Open Access Journals (Sweden)

    Oana Mirea

    2017-10-01

    Full Text Available Left ventricular non-compaction cardiomyopathy is a genetic disorder characterized by the presence of two myocardial layers with numerous prominent trabeculations and deep inter-trabecular recesses that communicate with the ventricular cavity. The diagnosis is often challenging because excessive trabeculations may also be a normal finding in performance athletes and black people. Echocardiography is the gold standard for diagnosis of this condition, but other useful diagnostic techniques may include cardiac magnetic resonance imaging, computed tomography, and contrast ventriculography. Moreover, newer echocardiographic methods such as three-dimensional imaging and speckle tracking analysis promise to improve the diagnosis of left ventricular non-compaction cardiomyopathy. The purpose of this paper is to review the pathogenesis, diagnosis, and management of this disease.

  13. Targets for therapy in sarcomeric cardiomyopathies

    Science.gov (United States)

    Tardiff, Jil C.; Carrier, Lucie; Bers, Donald M.; Poggesi, Corrado; Ferrantini, Cecilia; Coppini, Raffaele; Maier, Lars S.; Ashrafian, Houman; Huke, Sabine; van der Velden, Jolanda

    2015-01-01

    To date, no compounds or interventions exist that treat or prevent sarcomeric cardiomyopathies. Established therapies currently improve the outcome, but novel therapies may be able to more fundamentally affect the disease process and course. Investigations of the pathomechanisms are generating molecular insights that can be useful for the design of novel specific drugs suitable for clinical use. As perturbations in the heart are stage-specific, proper timing of drug treatment is essential to prevent initiation and progression of cardiac disease in mutation carrier individuals. In this review, we emphasize potential novel therapies which may prevent, delay, or even reverse hypertrophic cardiomyopathy caused by sarcomeric gene mutations. These include corrections of genetic defects, altered sarcomere function, perturbations in intracellular ion homeostasis, and impaired myocardial energetics. PMID:25634554

  14. 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)

  15. Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.

    Science.gov (United States)

    Meyers, Deborah E; Basha, Haseeb Ilias; Koenig, Mary Kay

    2013-01-01

    Mitochondrial disease is a heterogeneous group of multisystemic diseases that develop consequent to mutations in nuclear or mitochondrial DNA. The prevalence of inherited mitochondrial disease has been estimated to be greater than 1 in 5,000 births; however, the diagnosis and treatment of this disease are not taught in most adult-cardiology curricula. Because mitochondrial diseases often occur as a syndrome with resultant multiorgan dysfunction, they might not immediately appear to be specific to the cardiovascular system. Mitochondrial cardiomyopathy can be described as a myocardial condition characterized by abnormal heart-muscle structure, function, or both, secondary to genetic defects involving the mitochondrial respiratory chain, in the absence of concomitant coronary artery disease, hypertension, valvular disease, or congenital heart disease. The typical cardiac manifestations of mitochondrial disease--hypertrophic and dilated cardiomyopathy, arrhythmias, left ventricular myocardial noncompaction, and heart failure--can worsen acutely during a metabolic crisis. The optimal management of mitochondrial disease necessitates the involvement of a multidisciplinary team, careful evaluations of patients, and the anticipation of iatrogenic and noniatrogenic complications. In this review, we describe the complex pathophysiology of mitochondrial disease and its clinical features. We focus on current practice in the diagnosis and treatment of patients with mitochondrial cardiomyopathy, including optimal therapeutic management and long-term monitoring. We hope that this information will serve as a guide for practicing cardiologists who treat patients thus affected.

  16. [A rare complication of takotsubo cardiomyopathy].

    Science.gov (United States)

    Siry, M; Scheffold, N; Wimmert-Roidl, D; König, G

    2011-01-01

    A 70-year old woman was admitted by the emergency doctor directly to our cardiac catheterization unit with persisting chest pain 60 minutes after onset of symptoms. Except for hypertension and hypercholesterinemia there was no cardiac history. On examination we found a bradykardia of 43/minutes, no other pathological signs. The ECG showed significant ST-segment elevation in I, aVL, V4-V6, and revealed a complete dissociation between p-wave and QRS-complex. This led to the diagnose of a ST-elevation myocardial infarction of the lateral wall connected with a third degree AV-block. First a transvenous pacing was done and the subsequent coronary angiography excluded coronary vascular disease. The laevocardiography showed an apical ballooning, therefore takotsubo cardiomyopathy could be diagnosed. Due to persisting third degree AV-Block, a permanent pacemaker was implanted on the fourth day of treatment. After one week the left ventricular function was nearly normal. The intravascular ultrasound excluded a ruptured plaque. In patients presenting acute coronary syndrom and apical ballooning, takotsubo cardiomyopathy should be considered after excluding coronary vascular disease. We presented a rare case of takotsubo cardiomyopathy together with a third degree AV-block. In spite of its persistence and the need of a permanent pacemaker implantation, the prognosis of the disease remained good. © Georg Thieme Verlag KG Stuttgart · New York.

  17. Desmin-related cardiomyopathy: an unfolding story

    Science.gov (United States)

    McLendon, Patrick M.

    2011-01-01

    The intermediate filament protein desmin is an integral component of the cardiomyocyte and serves to maintain the overall structure and cytoskeletal organization within striated muscle cells. Desmin-related myopathy can be caused by mutations in desmin or associated proteins, which leads to intracellular accumulation of misfolded protein and production of soluble pre-amyloid oligomers, which leads to weakened skeletal and cardiac muscle. In this review, we examine the cellular phenotypes in relevant animal models of desmin-related cardiomyopathy. These models display characteristic sarcoplasmic protein aggregates. Aberrant protein aggregation leads to mitochondrial dysfunction, abnormal metabolism, and altered cardiomyocyte structure. These deficits to cardiomyocyte function may stem from impaired cellular proteolytic mechanisms. The data obtained from these models allow a more complete picture of the pathology in desmin-related cardiomyopathy to be described. Moreover, these studies highlight the importance of desmin in maintaining cardiomyocyte structure and illustrate how disrupting this network can be deleterious to the heart. We emphasize the similarities observed between desmin-related cardiomyopathy and other protein conformational disorders and speculate that therapies to treat this disease may be broadly applicable to diverse protein aggregation-based disorders. PMID:21784990

  18. Normal variations in personality are associated with coital orgasmic infrequency in heterosexual women: a population-based study.

    Science.gov (United States)

    Harris, Juliette M; Cherkas, Lynn F; Kato, Bernet S; Heiman, Julia R; Spector, Tim D

    2008-05-01

    As many as 20-30% of women report an inability to orgasm during sexual intercourse. Some female sexual problems have been reported to cluster with psychological and social problems. Underlying personality type may play a role in the development or maintenance of such problems. The aim of this study was to investigate whether certain domains of personality are associated with female coital orgasmic infrequency. To our knowledge this is the first such study in a large unselected population. A total of 2632 women (mean age 51) from the TwinsUK registry completed questionnaires relating to personality and sexual behavior. Personality domains were assessed using the validated Ten-Item Personality Index (TIPI). Coital orgasmic frequency was measured using a seven-point Likert scale. Using logistic regression, we investigated whether variations in five domains of personality are associated with female coital orgasmic infrequency. Discordant twin analysis was used to verify findings. Introversion (odds ratio [OR] 2.5, 95% confidence interval [CI] 1.7-3.7), emotional instability (OR 2.0, 95% CI 1.3-3.1), and not being open to new experience (OR 2.4, 95% CI 1.6-3.6) were significantly associated with orgasmic infrequency, whereas indices of agreeableness and conscientiousness were not significantly associated with orgasm frequency. Specific personality subtypes appear to be significant risk factors for orgasmic infrequency. Consideration of these behavioral risk factors may need to be incorporated into research into female orgasmic disorder, and possible approaches to its treatment.

  19. 40 CFR 1042.525 - How do I adjust emission levels to account for infrequently regenerating aftertreatment devices?

    Science.gov (United States)

    2010-07-01

    ... to adjust emission results from engines using aftertreatment technology with infrequent regeneration... this section for how to adjust discrete-mode testing. For this section, “regeneration” means an... oxidize accumulated particulate matter in a trap. For this section, “infrequent” refers to regeneration...

  20. 40 CFR 1039.525 - How do I adjust emission levels to account for infrequently regenerating aftertreatment devices?

    Science.gov (United States)

    2010-07-01

    ... adjust emission results from engines using aftertreatment technology with infrequent regeneration events. For this section, “regeneration” means an intended event during which emission levels change while the... section, “infrequent” refers to regeneration events that are expected to occur on average less than once...

  1. Takotsubo cardiomyopathy in a patient with previously undiagnosed hypertrophic cardiomyopathy with obstruction.

    Science.gov (United States)

    Brabham, William W; Lewis, Geoffrey F; Bonnema, David D; Nielsen, Christopher D; O'Brien, Terrence X

    2011-01-01

    Takotsubo cardiomyopathy (TCM) is usually characterized by left ventricular anteroapical dysfunction in the absence of significant coronary disease commonly precipitated by an emotional or stressful trigger. Hypertrophic cardiomyopathy (HCM) is usually diagnosed on the basis of symptoms, family history, echocardiography, or by the presence of a characteristic murmur. We report a unique case of TCM occurring in a patient with previously undiagnosed HCM with left ventricular outflow tract (LVOT) obstruction who presented with an acute coronary syndrome and ultimately underwent successful alcohol septal ablation. The potential pathophysiologic correlations are discussed. Copyright © 2011 Elsevier Inc. All rights reserved.

  2. 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.

  3. Acute effects of THC on time perception in frequent and infrequent cannabis users.

    Science.gov (United States)

    Sewell, R Andrew; Schnakenberg, Ashley; Elander, Jacqueline; Radhakrishnan, Rajiv; Williams, Ashley; Skosnik, Patrick D; Pittman, Brian; Ranganathan, Mohini; D'Souza, D Cyril

    2013-03-01

    Cannabinoids have been shown to alter time perception, but existing literature has several limitations. Few studies have included both time estimation and production tasks, few control for subvocal counting, most had small sample sizes, some did not record subjects' cannabis use, many tested only one dose, and used either oral or inhaled administration of Δ⁹-tetrahydrocannabinol (THC), leading to variable pharmacokinetics, and some used whole-plant cannabis containing cannabinoids other than THC. Our study attempted to address these limitations. This study aims to characterize the acute effects of THC and frequent cannabis use on seconds-range time perception. THC was hypothesized to produce transient, dose-related time overestimation and underproduction. Frequent cannabis smokers were hypothesized to show blunted responses to these alterations. IV THC was administered at doses from 0.015 to 0.05 mg/kg to 44 subjects who participated in several double-blind, randomized, counterbalanced, crossover, placebo-controlled studies. Visual time estimation and production tasks in the seconds range were presented to subjects three times on each test day. All doses induced time overestimation and underproduction. Chronic cannabis use had no effect on baseline time perception. While infrequent/nonsmokers showed temporal overestimation at medium and high doses and temporal underproduction at all doses, frequent cannabis users showed no differences. THC effects on time perception were not dose related. A psychoactive dose of THC increases internal clock speed as indicated by time overestimation and underproduction. This effect is not dose related and is blunted in chronic cannabis smokers who did not otherwise have altered baseline time perception.

  4. Shading and sediment structure effects on stream metabolism resistance and resilience to infrequent droughts.

    Science.gov (United States)

    Zlatanović, Sanja; Fabian, Jenny; Premke, Katrin; Mutz, Michael

    2017-10-22

    land use to mitigate the future impact of unpredictable infrequent droughts on stream metabolism in temperate ecosystems. Copyright © 2017 Elsevier B.V. All rights reserved.

  5. Primary cardiomyopathies: classification, pathophysiology, clinical recognition and management.

    Science.gov (United States)

    Seward, J B; Tajik, A J

    1980-01-01

    In recent years, the definition of cardiomyopathy has been restricted to the idiopathic forms of myocardial disease and has been grouped into three general categories: (1) congestive or dilated cardiomyopathy, (2) hypertrophic cardiomyopathy, and (3) restrictive cardiomyopathy. The history and physical examination and echocardiography appear to be the most helpful in the clinical recognition of these disorders. In general, the prognosis of patients with congestive cardiomyopathy is guarded. Their survival primarily depends on the natural history and progression of the disease as well as the response to treatment with anticongestive drugs. The recent advent of vasodilator therapy has provided additional help to the patient with refractory congestive heart failure. Hypertrophic cardiomyopathy appears to be much more frequently recognized since the advent of echocardiography. The young patient has a much higher incidence of serious complications (combined right and left ventricular outflow obstruction, more generalized hypertrophic cardiomyopathy, and sudden death), and the patient presenting in later life appears to have fewer associated complications. There is a familial association with hypertrophic cardiomyopathy, although the true incidence and full expression of the association is not well understood at present. The majority of adult patients acieve prolonged survival with medical and/or surgical treatment. The restrictive cardiomyopathies are probably the least well understood. All three subgroups (Löffler's endocarditis, primary restrictive cardiomyopathy, and endomyocardial fibrosis) have a guarded prognosis. The acute form (Löffler's endocarditis) is characterized by a debilitating illness with death usually within a couple of months; however, a small percentage of these patients can have long survival and may actually evolve into a more chronic form, i.e., primary restrictive cardiomyopathy or endomyocardial fibrosis. The latter two restrictive myopathies

  6. Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.

    Science.gov (United States)

    Almomani, Rowida; Verhagen, Judith M A; Herkert, Johanna C; Brosens, Erwin; van Spaendonck-Zwarts, Karin Y; Asimaki, Angeliki; van der Zwaag, Paul A; Frohn-Mulder, Ingrid M E; Bertoli-Avella, Aida M; Boven, Ludolf G; van Slegtenhorst, Marjon A; van der Smagt, Jasper J; van IJcken, Wilfred F J; Timmer, Bert; van Stuijvenberg, Margriet; Verdijk, Rob M; Saffitz, Jeffrey E; du Plessis, Frederik A; Michels, Michelle; Hofstra, Robert M W; Sinke, Richard J; van Tintelen, J Peter; Wessels, Marja W; Jongbloed, Jan D H; van de Laar, Ingrid M B H

    2016-02-09

    Cardiomyopathies are usually inherited and predominantly affect adults, but they can also present in childhood. Although our understanding of the molecular basis of pediatric cardiomyopathy has improved, the underlying mechanism remains elusive in a substantial proportion of cases. This study aimed to identify new genes involved in pediatric cardiomyopathy. The authors performed homozygosity mapping and whole-exome sequencing in 2 consanguineous families with idiopathic pediatric cardiomyopathy. Sixty unrelated patients with pediatric cardiomyopathy were subsequently screened for mutations in a candidate gene. First-degree relatives were submitted to cardiac screening and cascade genetic testing. Myocardial samples from 2 patients were processed for histological and immunohistochemical studies. We identified 5 patients from 3 unrelated families with pediatric cardiomyopathy caused by homozygous truncating mutations in ALPK3, a gene encoding a nuclear kinase that plays an essential role in early differentiation of cardiomyocytes. All patients with biallelic mutations presented with severe hypertrophic and/or dilated cardiomyopathy in utero, at birth, or in early childhood. Three patients died from heart failure within the first week of life. Moreover, 2 of 10 (20%) heterozygous family members showed hypertrophic cardiomyopathy with an atypical distribution of hypertrophy. Deficiency of alpha-kinase 3 has previously been associated with features of both hypertrophic and dilated cardiomyopathy in mice. Consistent with studies in knockout mice, we provide microscopic evidence for intercalated disc remodeling. Biallelic truncating mutations in the newly identified gene ALPK3 give rise to severe, early-onset cardiomyopathy in humans. Our findings highlight the importance of transcription factor pathways in the molecular mechanisms underlying human cardiomyopathies. Copyright © 2016 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  7. Septal alcoholization in hypertrophic cardiomyopathy: about 11 cases

    African Journals Online (AJOL)

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

  8. Psychosocial impact of specialized cardiac genetic clinics for hypertrophic cardiomyopathy.

    Science.gov (United States)

    Ingles, Jodie; Lind, Joanne M; Phongsavan, Philayrath; Semsarian, Christopher

    2008-02-01

    The diagnosis of hypertrophic cardiomyopathy, an autosomal dominant chronic heart disease, can have significant implications, including increased risk of sudden death, exercise limitations, and risk of transmission to offspring. This study sought to describe the psychosocial factors associated with attending a specialty cardiac genetic clinic, and to determine whether these may be predictors of comorbid anxiety and depression in this population. Questionnaires were sent to 184 individuals attending the Royal Prince Alfred Hospital Hypertrophic Cardiomyopathy Clinic. Questionnaires were anonymous and comprised demographics, the Hospital Anxiety and Depression Scale, Patient Experience Scales, and Patient Satisfaction Scales. Completed questionnaires were returned by 109 participants (59.2% response rate), of which 76.9% had a diagnosis of hypertrophic cardiomyopathy, while 23.1% were at-risk relatives attending for clinical screening. Patient satisfaction scores were generally high to very high across all groups, though only 24% of HCM patients showed good adjustment to hypertrophic cardiomyopathy and 10% had low worry about hypertrophic cardiomyopathy scores. Within the disease group, logistic regression analysis adjusting for age, gender, and education revealed adjustment to hypertrophic cardiomyopathy and worry about hypertrophic cardiomyopathy scores to be significantly associated with anxiety, while adjustment scores and location of patient follow-up (i.e., Hypertrophic Cardiomyopathy clinic or another cardiologist) to be significantly associated with depression scores. HCM patients who attend specialized cardiac genetic clinics are better adjusted and worry less, than those who do not attend. An integrated approach, including a genetic counselor, is important in the management of HCM families.

  9. Dilated cardiomyopathy in a child with abdominal neuroblastoma ...

    African Journals Online (AJOL)

    Neuroblastoma is the most common extracranial solid tumour of childhood. Dilated cardiomyopathy as an initial presentation of neuroblastoma is rare. We report the case of a three-year-old child with giant abdominal neuroblastoma encasing the abdominal aorta who presented with dilated cardiomyopathy in heart failure ...

  10. Tako-tsubo cardiomyopathy after a quarrel. | Jiang | African Health ...

    African Journals Online (AJOL)

    Objective: To report a case of Tako-tsubo cardiomyopathy in a blind woman. Case presentation: We report a confirmed case of Tako-tsubo cardiomyopathy in a 55-year-old blind woman with past medical history of ocular trauma. The patient suffered from sudden chest pain after a quarrel. Transthoracic echocardiogram ...

  11. Idiopathic Dilated Cardiomyopathy in Children: Natural History and ...

    African Journals Online (AJOL)

    Dilated cardiomyopathy is the most common type of heart muscle disease in children with idiopathic etiology in the majority of cases. Idiopathic dilated cardiomyopathy (IDCM) is a severe illness which carries a high mortality rate in the pediatric population. In order to characterize IDCM evolution and identify prognostic ...

  12. Acute and Chronic Pheochromocytoma-Induced Cardiomyopathies: Different Prognoses?

    Science.gov (United States)

    Batisse-Lignier, Marie; Pereira, Bruno; Motreff, Pascal; Pierrard, Romain; Burnot, Christelle; Vorilhon, Charles; Maqdasy, Salwan; Roche, Béatrice; Desbiez, Francoise; Clerfond, Guillaume; Citron, Bernard; Lusson, Jean-René; Tauveron, Igor; Eschalier, Romain

    2015-01-01

    Abstract Pheochromocytoma and paraganglioma (PPG) are rare and late-diagnosed catecholamine secreting tumors, which may be associated with unrecognized and/or severe cardiomyopathies. We performed a computer-assisted systematic search of the electronic Medline databases using the MESH terms “myocarditis,” “myocardial infarction,” “Takotsubo,” “stress cardiomyopathy,” “cardiogenic shock”, or “dilated cardiomyopathy,” and “pheochromocytoma” or “paraganglioma” from 1961 to August 2012. All detailed case reports of cardiomyopathy due to a PPG, without coronary stenosis, and revealed by acute symptoms were included and analyzed. A total of 145 cases reports were collected (49 Takotsubo Cardiomyopathies [TTC] and 96 other Catecholamine Cardiomyopathies [CC]). At initial presentation, prevalence of high blood pressure (87.7%), chest pain (49.0%), headaches (47.6%), palpitations (46.9%), sweating (39.3%), and shock (51.0%) were comparable between CC and TTC. Acute pulmonary edema (58.3% vs 38.8%, P = 0.03) was more frequent in CC. There was no difference in proportion of patients with severe left ventricular systolic dysfunction (LV Ejection Fraction [LVEF] cardiomyopathies with the same brutal and life-threatening initial clinical presentation but with a different recovery rate. Diagnosis of unexplained dilated cardiomyopathy or TTC should lead clinicians to a specific search for PPG. PMID:26683930

  13. Takotsubo Cardiomyopathy: A Case Series and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Merchant, Emily E

    2008-05-01

    Full Text Available Takotsubo cardiomyopathy (TCM is an unusual form of acute cardiomyopathy showing left ventricular apical ballooning. It is often triggered by intense physical or emotional distress. We report here four cases of TCM and a review of the literature on the topic.

  14. Takotsubo cardiomyopathy in a snake bite victim: a case report ...

    African Journals Online (AJOL)

    Takotsubo cardiomyopathy occurs in patients with severe emotional or physiologic stress. The prognosis is usually favorable, and the left ventricular wall motion dyskinesis normalizes within days to weeks. In this paper we report a case of snake bite complicated by takotsubo cardiomyopathy. We advise physicians to ...

  15. Genetic advances in sarcomeric cardiomyopathies: state of the art

    NARCIS (Netherlands)

    Ho, Carolyn Y.; Charron, Philippe; Richard, Pascale; Girolami, Francesca; van Spaendonck-Zwarts, Karin Y.; Pinto, Yigal

    2015-01-01

    Genetic studies in the 1980s and 1990s led to landmark discoveries that sarcomere mutations cause both hypertrophic and dilated cardiomyopathies. Sarcomere mutations also likely play a role in more complex phenotypes and overlap cardiomyopathies with features of hypertrophy, dilation, diastolic

  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

  17. Cushing’s Disease Presented by Reversible Dilated Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Berna İmge Aydoğan

    2015-01-01

    Full Text Available 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 microadenoma. Under diuretic and ketoconazole treatments, she underwent a successful transnasal/transsphenoidal adenomectomy procedure. Full recovery of symptoms and echocardiographic features was achieved after six months of surgery. Conclusion. Cushing’s syndrome must be kept in mind as a reversible cause of dilated cardiomyopathy. Recovery of cardiomyopathy is achieved with successful surgery.

  18. 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 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; pcardiomyopathy 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 cardiotoxic therapies should be followed carefully during pregnancy particularly those with a

  19. Lone ventricular cardiomyopathy, 1993-1996.

    Science.gov (United States)

    Mokhobo, K P; Mntla, P S

    1997-07-01

    by special investigation. The mode of presentation and electrocardiographic features were analysed separately. Twenty-two left ventricular and 8 right ventricular cases of lone ventricular cardiomyopathy were diagnosed. All but 1 patient with right ventricular disease were symptomatic and 5 subjects with left ventricular myopathy were incidentally discovered. There were 17 men and 13 women in the series. Of the 8 patients with right ventricular disease, 6 were women, while of the 22 patients with left ventricular cardiomyopathy, 15 were men. The study supports the previously described existence of lone ventricular idiopathic cardiomyopathy. Further studies are, however, indicated in order to define its prevalence and nature more accurately, as well as to describe any relationship with univentricular cardiomyopathies, and define the characteristics of each category and the possible evolutionary patterns. Right ventricular cardiomyopathy is a new entity which may pose difficult diagnostic challenges, while left ventricular disease is generally accepted as a stage in the clinical spectrum of classic idiopathic dilated cardiomyopathy.

  20. Development of an Infrequency-Psychopathology scale for the MMPI-A: the Fp-A Scale.

    Science.gov (United States)

    McGrath, R E; Pogge, D L; Stein, L A; Graham, J R; Zaccario, M; Piacentini, T

    2000-04-01

    This article describes the development and initial validation of the Infrequency-Psychopathology scale, Fp-A, for the MMPI-A (Butcher et al., 1992). The scale parallels the Infrequency-Psychopathology scale, F(p), that has been developed for the MMPI-2 (Butcher, Dahlstrom, Graham, Tellegen, & Kaemmer, 1989). Results demonstrated that the 40-item Fp-A scale is superior to the F scale at discriminating between faking-bad and accurate reports of psychopathology, although the improvement over F was modest, particularly when compared to the improvement found for the F(p) scale. The difference seemed to reflect the superiority of the MMPI-A F scale to the MMPI-2 F scale. Even so, the findings suggest that the identification of overreporting on the MMPI-A could potentially be enhanced by using Fp-A as an adjunct to the F scale.

  1. Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness.

    Science.gov (United States)

    Kunishima, Shinji; Matsunaga, Tatsuo; Ito, Yoshimi; Saito, Hidehiko

    2009-10-01

    Mutations in MYH9 result in the autosomal dominant giant platelet disorders with leukocyte inclusion bodies with varying degrees of Alport manifestations, including nephritis, deafness, and cataracts. A specific MYH9 mutation in exon 16, R705H, causes nonsyndromic deafness DFNA17. We searched for mutations in MYH9 exons 1, 16, 26, and 30 in a total of 157 Japanese patients with nonsyndromic deafness without known cause of hearing loss, but no mutations were found. We conclude that mutations in MYH9 are infrequently found in patients with nonsyndromic deafness and suggest that MYH9 mutations infrequently cause isolated sensorineural hearing loss. Thus, MYH9 may not currently be a good candidate gene for efficient screening of genetic causes in nonsyndromic deafness.

  2. The Role of Echocardiography in Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Jing Ping Sun

    2017-02-01

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

  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. Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Ingles, Jodie; Sarina, Tanya; Yeates, Laura; Hunt, Lauren; Macciocca, Ivan; McCormack, Louise; Winship, Ingrid; McGaughran, Julie; Atherton, John; Semsarian, Christopher

    2013-12-01

    Genetic testing for hypertrophic cardiomyopathy has been commercially available for almost a decade; however, low mutation detection rate and cost have hindered uptake. This study sought to identify clinical variables that can predict probands with hypertrophic cardiomyopathy in whom a pathogenic mutation will be identified. Probands attending specialized cardiac genetic clinics across Australia over a 10-year period (2002-2011), who met clinical diagnostic criteria for hypertrophic cardiomyopathy and who underwent genetic testing for hypertrophic cardiomyopathy were included. Clinical, family history, and genotype information were collected. A total of 265 unrelated individuals with hypertrophic cardiomyopathy were included, with 138 (52%) having at least one mutation identified. The mutation detection rate was significantly higher in the probands with hypertrophic cardiomyopathy with an established family history of disease (72 vs. 29%, P < 0.0001), and a positive family history of sudden cardiac death further increased the detection rate (89 vs. 59%, P < 0.0001). Multivariate analysis identified female gender, increased left-ventricular wall thickness, family history of hypertrophic cardiomyopathy, and family history of sudden cardiac death as being associated with greatest chance of identifying a gene mutation. Multiple mutation carriers (n = 16, 6%) were more likely to have suffered an out-of-hospital cardiac arrest or sudden cardiac death (31 vs. 7%, P = 0.012). Family history is a key clinical predictor of a positive genetic diagnosis and has direct clinical relevance, particularly in the pretest genetic counseling setting.

  5. [Myocarditis and dilated cardiomyopathy in children. Old questions-- new answers].

    Science.gov (United States)

    Malcić, I; Buljević, A D

    1999-01-01

    The purpose of this article is to discuss the dilemmas in differential diagnosis of myocarditis and dilated cardiomyopathy of different etiologies. According to the definition of the WHO and the ISFC the dilated cardiomyopathy is a myocardial disease recognized by the severe enlargement of the left and/or the right ventricle causing the decrease in systolic function of the heart (decrease of contractility) with the development of congestive heart failure. In order to distinguish primary cardiomyopathies defined as a muscle heart disease sui generis on the one hand from cardiomyopathies as the outcome of chronic inflammatory myocarditis (chronic persistent myocarditis, chronic immune myocarditis, chronic viral heart disease) on the other hand, it is necessary to follow a complicated diagnostic flow diagram. Methods that are to become routine in diagnostic procedure are described. Etiologic diagnosis of dilated cardiomyopathies is not possible without heart muscle biopsy. The bioptic specimens must be analyzed using light microscope (according to Dallas criteria), electron microscope, and afterwards immunohistologically and immunohistochemically (in situ hybridization). The total result of these investigations leads to the final conclusion about etiological diagnosis of dilated cardiomyopathy. The directions in the treatment of dilated cardiomyopathies and acute myocarditis are stated, as well as the importance of immunosuppressive therapy in these conditions. In the treatment of acute myocarditis digoxin should be avoided and other inotropic substances used instead.

  6. Reduced estrogen in menopause may predispose women to takotsubo cardiomyopathy.

    Science.gov (United States)

    Kuo, Bruce T; Choubey, Rakesh; Novaro, Gian M

    2010-02-01

    Takotsubo cardiomyopathy (apical ballooning syndrome) has been reported with increased frequency, most commonly in postmenopausal women. Despite the gender disparity, no clear link between estrogen and its possible cardioprotective effects has been shown. We present a case series of takotsubo cardiomyopathy in women and examine the prevalence of estrogen replacement therapy (ERT), in addition to conducting a systematic literature review on this topic. Consecutive cases of takotsubo cardiomyopathy were identified at our institution, Cleveland Clinic Florida, from January 2006 to December 2008, and patient-level data were extracted for analysis. For the literature review, we searched the MEDLINE database from January 1990 to March 2008 for English-language publications, using the terms apical ballooning syndrome, takotsubo, and stress cardiomyopathy, and identified case reports and series of takotsubo cardiomyopathy. Articles describing female patients and their medication use at time of presentation were included in the study. Eighteen cases of takotsubo cardiomyopathy were identified at our institution, all in postmenopausal women except for 2 who were still menstruating. Of the 16 postmenopausal cases, none were taking ERT at time of presentation. From the literature review, >400 publications were queried, of which 296 were recognized as case reports or series, with 7 articles meeting all of our inclusion criteria. From these reports, 13 women were identified, none of whom were taking ERT at time of presentation. Lack of estrogen replacement in the postmenopausal state may predispose women to takotsubo cardiomyopathy. Further studies are needed to establish the link more firmly. Copyright 2010. Published by Elsevier Inc.

  7. Multiple sclerosis presents with psychotic symptoms and coexists with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Ozcan, Muhammed Emin; Ince, Bahri; Karadeli, Hasan Hüseyin; Asil, Talip

    2014-01-01

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

  8. Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy.

    Science.gov (United States)

    Lorenzon, Alessandra; Pilichou, Kalliopi; Rigato, Ilaria; Vazza, Giovanni; De Bortoli, Marzia; Calore, Martina; Occhi, Gianluca; Carturan, Elisa; Lazzarini, Elisabetta; Cason, Marco; Mazzotti, Elisa; Poloni, Giulia; Mostacciuolo, Maria Luisa; Daliento, Luciano; Thiene, Gaetano; Corrado, Domenico; Basso, Cristina; Bauce, Barbara; Rampazzo, Alessandra

    2015-10-15

    Dominant mutations in desmocollin-2 (DSC2) gene cause arrhythmogenic cardiomyopathy (ACM), a progressive heart muscle disease characterized by ventricular tachyarrhythmias, heart failure, and risk of juvenile sudden death. Recessive mutations are rare and are associated with a cardiac or cardiocutaneous phenotype. Here, we evaluated the impact of a homozygous founder DSC2 mutation on clinical expression of ACM. An exon-by-exon analysis of the DSC2 coding region was performed in 94 ACM index patients. The c.536A>G (p.D179G) mutation was identified in 5 patients (5.3%), 4 of which resulted to be homozygous carriers. The 5 subjects shared a conserved haplotype, strongly indicating a common founder. Genetic and clinical investigation of probands' families revealed that p.D179G homozygous carriers displayed severe forms of biventricular cardiomyopathy without hair or skin abnormalities. The only heterozygous proband, who carried an additional variant of unknown significance in αT-catenin gene, showed a mild form of ACM without left ventricular involvement. All heterozygous family members were clinically asymptomatic. In conclusion, this is the first homozygous founder mutation in DSC2 gene identified among Italian ACM probands. Our findings provide further evidence of the occurrence of recessive DSC2 mutations in patients with ACM predominantly presenting with biventricular forms of the disease. Copyright © 2015 Elsevier Inc. All rights reserved.

  9. 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. © 2012 Wiley Periodicals, Inc.

  10. The Mutations Associated with Dilated Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    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.

  11. Anaesthetic management of patients with peripartum cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Rashmi Ramachandran

    2011-01-01

    Full Text Available Peripartum cardiomyopathy (PPCM is a disease affecting the parturient during late pregnancy or immediately after delivery. This unique disorder not just endangers the life of mother and progeny but is also a financial burden to the health system due to its potential to cause prolonged and persistent cardiac function insufficiency in the mother. The hallmark of the disease is onset of decreased cardiac ejection fraction either in the late pregnancy or early puerperium. Over the last few decades, the disease has been extensively researched and investigated to formulate diagnostic guidelines and therapeutic approaches. Many theories regarding its pathophysiology have also been proposed. The clinical presentation and the basic and intensive interventional strategies of the disease are more or less similar to that of dilated cardiomyopathy due to any other cause; however, at all points of time the pregnant or lactating state of mother and the subsequent effect of the medication and therapeutic interventions on the fetus or neonate needs to be considered. Apart from intensive care management, these patients may also require anaesthetic intervention for management of painless labor and/or either vaginal or operative delivery. Favorable maternal and fetal outcome require that the basic hemodynamic goals be always kept in mind while choosing the techniques and drugs to provide anaesthesia to the patients with PPCM. Literature search of the anaesthetic management of patients with diagnosis of PPCM undergoing operative delivery reveals both general and regional anaesthesia being used with comparable outcomes.

  12. Coronary artery disease and lunar catecholamine cardiomyopathy.

    Science.gov (United States)

    Rowe, William J

    2017-03-15

    Show how lunar catecholamine cardiomyopathy alone, exemplified by Neil Armstrong's single space walk, prior to exposure to inhalation of fine particulate matter, can trigger " Neil Armstrong Syndrome" or by Irwin with coronary, possibly hypertensive heart disease, and catecholamine cardiomyopathy. With space flight, invariably magnesium ion deficits, catecholamine elevations, vicious cycles. Design Use lunar heart rates while configuring rover to show severe tachycardia component of the syndrome. Use Irwin's stress test-" cyanotic fingernails" to support Apollo 15 Space Syndrome. Use Irwin's autobiography to compensate for often incomplete data. Results Paper shows that both Irwin as well as Armstrong meet criteria of my 2nd. Space Syndrome: severe thirst, severe shortness of breath, severe tachycardia, the latter, corrected by replenishing plasma volume. Conclusions Irwin, with a history of hypertension prior to the Apollo 15 mission and classical angina during Earth reentry, may have had coronary as well as hypertensive heart disease whereas there was no evidence that Armstrong had these conditions prior or during his mission. However both, on return to Earth, had abnormal stress tests. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  13. Diabetic cardiomyopathy: do women differ from men?

    Science.gov (United States)

    Ren, Jun; Ceylan-Isik, Asli F

    2004-11-01

    Although many aspects of cardiovascular disease are similar between women and men, it is becoming increasingly obvious that there are significant differences as well. Premenopausal women usually have a lower risk of cardiovascular diseases than age-matched men and postmenopausal women. However, the "female advantage" disappears once women are afflicted with diabetes mellitus. Heart diseases are twice as common in diabetic men and five times as common in diabetic women. It is believed that differences in sex hormones and intrinsic myocardial and endothelial functions between men and women may be responsible for this female "advantage" and "disadvantage" in normal and diabetic conditions. Most experimental and clinical studies on diabetes only included male subjects and failed to address this important gender difference in diabetic heart complications. Although female hearts may be better tolerated to stress (such as ischemia) insults than their male counterparts, female sex hormone such as estrogen may interact with certain risk factors under diabetes which may compromise the overall cardiac function. The benefit versus risk of estrogen replacement therapy on cardiac function and overall cardiovascular health in diabetes remains controversial. This review will focus on gender-related difference in diabetic heart complication--diabetic cardiomyopathy--and if gender differences in intrinsic myocardial contraction, polyol pathway metabolism, and advanced glycation endproduct formation and other neuroendocrinal regulatory mechanisms to the heart may contribute to disparity in diabetic cardiomyopathy between men and women.

  14. Hypertrophic cardiomyopathy in adults: an overview.

    Science.gov (United States)

    Jacobs, Cynthia

    2014-09-01

    To present an overview of clinical issues related to adults with hypertrophic cardiomyopathy (HCM), their presenting symptoms, diagnosis, physical examination findings, treatment, and follow-up care. A comprehensive search of Medline (PubMed) and CINAHL was conducted using the key terms HCM, treatment, diagnosis, sudden cardiac death (SCD), and complications. This search yielded 21 articles used for this article. There were three reference books used for background, diagnosis, and treatment information as well. Although HCM is the most prevalent genetic disorder affecting the heart, it often goes undiagnosed until midlife after patients show symptoms of myocardial remodeling. Adults with cardiomyopathy suffer SCD or adverse events such as stroke and heart failure from HCM. Early diagnosis will prevent SCD, improve quality of life, and slow patient's progression to heart failure. Early recognition of HCM in adults by their primary care providers will improve patients' quality of life and reduce incidence of SCD, heart failure, and stroke. ©2014 American Association of Nurse Practitioners.

  15. Apical hypertrophic cardiomyopathy: clinical and metabolic studies.

    Science.gov (United States)

    Bertrand, M E; Tilmant, P Y; Lablanche, J M; Thieuleux, F A

    1983-11-01

    Among the hypertrophic non-obstructive cardiomyopathies, a particular group of patients with concentric apical hypertrophy can be described. We studied seven patients (five men and two women) who underwent heart catheterization because they had giant negative T waves in the precordial leads. M-mode and two-dimensional echocardiograms revealed no obstruction within the outflow tract of the ventricle. Coronary angiography was normal in all cases. None of these patients demonstrated any significant peak systolic pressure gradient in the outflow tract. A characteristic spade-like configuration (concentric apical hypertrophy) was observed in the right anterior oblique ventriculogram at end diastole. The apical thickness reached 17.2 +/- 0.85 mm and was significantly greater than mid-anterior wall thickness (9.8 +/- 2.14 mm). In five cases, atrial pacing with coronary arterial and venous lactate sampling revealed abnormalities in myocardial metabolism. With a mean follow up of 43 months, three patients remain asymptomatic and one had heart failure. ECG abnormalities were unchanged and echocardiograms showed an increase of the septal and posterior wall thickness, suggesting a transformation in concentric diffuse hypertrophic cardiomyopathy.

  16. Symptoms in women with Peripartum Cardiomyopathy: A mixed method study.

    Science.gov (United States)

    Patel, Harshida; Berg, Marie; Barasa, Anders; Begley, Cecily; Schaufelberger, Maria

    2016-01-01

    Peripartum Cardiomyopathy is a form of cardiac disease often associated with cardiac failure, occurring in late pregnancy or after childbirth. The anatomical and physiological changes in the mother associated with normal pregnancy are profound, and this may result in symptoms and signs that overlap with Peripartum Cardiomyopathy, leading to missed or delayed diagnosis. Women's experiences of Peripartum Cardiomyopathy symptoms remain poorly studied. The aim of this study was to explore and describe women's experiences of symptoms in Peripartum Cardiomyopathy. A triangulation of methods with individual interviews and data from medical records. Mothers with Peripartum Cardiomyopathy diagnosis were recruited from Western Sweden as a part of research project. 19 women were interviewed and medical records were reviewed by authors. All interview transcripts were analysed using qualitative inductive content analysis to identify key themes. The main theme, meaning of onset and occurrence of symptoms is captured in the metaphor: being caught in a spider web, comprising subthemes, invasion of the body by experienced symptoms and feeling of helplessness. Symptoms related to Peripartum Cardiomyopathy started for 17 women during pregnancy and in two post partum and time from symptoms to diagnosis varied between three and 190 days (median 40). The physical symptoms were:shortness of breath, excessive fatigue and swelling, bloatedness, nausea, palpitation, coughing, chest tightness, bodily pain, headache, fever, tremor, dizziness, syncope, restless and tingly body and reduced urine output. Emotional symptoms were: fear, anxiety, feelings of panic, and thoughts of impending death. Symptoms of Peripartum Cardiomyopathy were debilitating, exhausting and frightening for the women interviewed in this study. Health care professionals responsible for the antenatal care, especially midwives, need skills to identify initial symptoms of Peripartum Cardiomyopathy for early referral and

  17. Primary Prevention of Sudden Death in Patients With Valvular Cardiomyopathy.

    Science.gov (United States)

    Rodríguez-Mañero, Moisés; Barrio-López, María Teresa; Assi, Emad Abu; Expósito-García, Víctor; Bertomeu-González, Vicente; Sánchez-Gómez, Juan Miguel; González-Torres, Luis; García-Bolao, Ignacio; Gaztañaga, Larraitz; Cabanas-Grandío, Pilar; Iglesias-Bravo, José Antonio; Arce-León, Álvaro; la Huerta, Ana Andrés; Fernández-Armenta, Juan; Peinado, Rafael; Arias, Miguel Angel; Díaz-Infante, Ernesto

    2016-03-01

    Few data exist on the outcomes of valvular cardiomyopathy patients referred for defibrillator implantation for primary prevention. The aim of the present study was to describe the outcomes of this cardiomyopathy subgroup. This multicenter retrospective study included consecutive patients referred for defibrillator implantation to 15 Spanish centers in 2010 and 2011, and to 3 centers after 1 January 2008. Of 1174 patients, 73 (6.2%) had valvular cardiomyopathy. These patients had worse functional class, wider QRS, and a history of atrial fibrillation vs patients with ischemic (n=659; 56.1%) or dilated (n=442; 37.6%) cardiomyopathy. During a follow-up of 38.1 ± 21.3 months, 197 patients (16.7%) died, without significant differences among the groups (19.2% in the valvular cardiomyopathy group, 15.8% in the ischemic cardiomyopathy group, and 17.9% in the dilated cardiomyopathy group; P=.2); 136 died of cardiovascular causes (11.6%), without significant differences among the groups (12.3%, 10.5%, and 13.1%, respectively; P=.1). Although there were no differences in the proportion of appropriate defibrillator interventions (13.7%, 17.9%, and 18.8%; P=.4), there was a difference in inappropriate interventions (8.2%, 7.1%, and 12.0%, respectively; P=.03). All-cause and cardiovascular mortality in patients with valvular cardiomyopathy were similar to those in other patients referred for defibrillator implantation. They also had similar rates of appropriate interventions. These data suggest that defibrillator implantation in this patient group confers a similar benefit to that obtained by patients with ischemic or dilated cardiomyopathy. Copyright © 2015 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

  18. Cardiomyopathy Associated With Targeted Therapy for Breast Cancer.

    Science.gov (United States)

    Sivagnanam, Kamesh; Rahman, Zia U; Paul, Timir

    2016-02-01

    Chemotherapeutic agents directed against human epidermal growth factor receptor 2 (HER-2) have significantly improved the prognosis of patients who are positive for this receptor. However, cardiomyopathy remains as a common adverse effect of using these agents. Literature search was conducted via PubMed using the keywords of "Trastuzumab Cardiomyopathy," "Lapatinib Cardiomyopathy" and "Pertuzumab Cardiomyopathy," which provided 104 results. These articles were then screened for relevance to the targeted subject based on their title and abstracts. Case reports and articles that were not discussing any aspect of cardiomyopathy secondary to targeted therapy for breast cancer and articles not in English were eliminated. After elimination, a bibliography search among selected articles was done and a total of 46 articles were identified. The collected articles were then meticulously analyzed and summarized. The use of human epidermal growth factor receptor 2 (HER-2) receptor targeted chemotherapy in breast cancer is limited because of a higher incidence (19-22%) of cardiomyopathy. The incidence of cardiomyopathy is not dose dependent and in most cases it is reversible after discontinuation of the drug and treatment with heart failure medications. Severe adverse outcomes including death or permanent disability are rare. HER-2 targeted chemotherapy for breast cancer has a higher incidence of associated reversible cardiomyopathy. Patients should be monitored by serial echocardiography starting at the beginning of the treatment and followed by every 3 months until the completion of chemotherapy. Co-ordination between oncologists and cardiologists is needed to develop evidence-based protocols to prevent, identify, monitor and treat trastuzumab-induced cardiomyopathy. Copyright © 2016 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.

  19. The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: baseline data and contemporary management of adult patients with cardiomyopathies.

    Science.gov (United States)

    Charron, Philippe; Elliott, Perry M; Gimeno, Juan R; Caforio, Alida L P; Kaski, Juan Pablo; Tavazzi, Luigi; Tendera, Michal; Maupain, Carole; Laroche, Cécile; Rubis, Pawel; Jurcut, Ruxandra; Calò, Leonardo; Heliö, Tiina M; Sinagra, Gianfranco; Zdravkovic, Marija; Kavoliuniene, Aušra; Felix, Stephan B; Grzybowski, Jacek; Losi, Maria-Angela; Asselbergs, Folkert W; García-Pinilla, José Manuel; Salazar-Mendiguchia, Joel; Mizia-Stec, Katarzyna; Maggioni, Aldo P

    2018-01-24

    The Cardiomyopathy Registry of the EURObservational Research Programme is a prospective, observational, and multinational registry of consecutive patients with four cardiomyopathy subtypes: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and restrictive cardiomyopathy (RCM). We report the baseline characteristics and management of adults enrolled in the registry. A total of 3208 patients were enrolled by 69 centres in 18 countries [HCM (n = 1739); DCM (n = 1260); ARVC (n = 143); and RCM (n = 66)]. Differences between cardiomyopathy subtypes (P diagnosis, history of familial disease, history of sustained ventricular arrhythmia, use of magnetic resonance imaging or genetic testing, and implantation of defibrillators. When compared with probands, relatives had a lower age at diagnosis (P cardiomyopathies, the registry provides a platform for the evaluation of guideline implementation. Potential gaps with existing recommendations are discussed as well as some suggestions for improvement of health care provision in Europe.

  20. 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.

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

    Science.gov (United States)

    Higgins, Nikki; Burke, John P; McCreery, Charles J

    2012-01-01

    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.

  2. Takotsubo Cardiomyopathy in Intensive Care Unit: Prevention, Diagnosis and Management

    Directory of Open Access Journals (Sweden)

    Hannah Masoud

    2016-01-01

    Full Text Available Accurate diagnosis of Takotsubo Cardiomyopathy has substantial prognostic implications in an intensive care unit, given its increased mortality risk and association with life-threatening complications. This report seeks to discuss diagnostic modalities that can be useful in accurately differentiating Takotsubo Cardiomyopathy from Acute Coronary Syndrome, and also briefly discuss prevention and management of this cardiomyopathy in an intensive care unit. For critically ill Takotsubo patients, intensive clinicians can consider establishment of diagnosis by specific electrocardiograph changes, distinctive marked release of cardiac enzymes, characteristic echocardiograph findings, as well as invasive coronary angiography or noninvasive cardiac magnetic imaging.

  3. Role of cardiovascular magnetic resonance in the evaluation of cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Sulaiman Moosa

    2016-11-01

    Full Text Available Cardiovascular magnetic resonance imaging plays a central role in the assessment and monitoring of patients with cardiomyopathy. It offers a comprehensive assessment during a single scan setting, with information on ventricular volumes, function and mass as well as tissue characterisation, fibrosis, flow, viability and perfusion. Acute tissue injury (oedema and necrosis can be distinguished from fibrosis, infiltration and iron overload. It provides information on the cause and prognosis of the cardiomyopathy, and its high measurement accuracy makes it ideal for monitoring disease progression and effects of therapy. The present review highlights the main features of commonly encountered cardiomyopathies in imaging practice.

  4. Reversible catecholamine-induced cardiomyopathy due to pheochromocytoma: case report.

    Science.gov (United States)

    Satendra, Milan; de Jesus, Cláudia; Bordalo e Sá, Armando L; Rosário, Luís; Rocha, José; Bicha Castelo, Henrique; Correia, Maria José; Nunes Diogo, António

    2014-03-01

    Pheochromocytoma is a tumor originating from chromaffin tissue. It commonly presents with symptoms and signs of catecholamine excess, such as hypertension, tachycardia, headache and sweating. Cardiovascular manifestations include catecholamine-induced cardiomyopathy, which may present as severe left ventricular dysfunction and congestive heart failure. We report a case of pheochromocytoma which was diagnosed following investigation of dilated cardiomyopathy. We highlight the dramatic symptomatic improvement and reversal of cardiomyopathy, with recovery of left ventricular function after treatment. Copyright © 2013 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  5. [Hypertrophic cardiomyopathy with left ventricular dilatation].

    Science.gov (United States)

    Iwami, G; Miyazaki, Y; Matsuyama, K; Shida, M; Ooga, M; Furuta, Y; Ikeda, H; Toshima, H; Chiba, M; Koga, Y

    1988-06-01

    There is increasing interest in the notion that some patients with hypertrophic cardiomyopathy (HCM) progress to morphological and functional manifestations similar to those of dilated cardiomyopathy (DCM). From 165 consecutive patients with HCM, 20 patients with left ventricular dilatation (left ventricular end-diastolic diameter greater than or equal to 50 mm) were selected and designated as dilated HCM. The diagnosis of HCM was established in these patients either by detection of the classical form of HCM in family members, with 2-dimensional echocardiographic evidence of asymmetric septal hypertrophy (ASH; septal thickness greater than or equal to 15 mm and a ratio of septal to posterior wall thickness greater than or equal to 1.3); or by demonstrating myocardial fiber disarray in autopsy or biopsy samples. The clinical manifestations of these patients with dilated HCM were then compared with those of other forms of HCM without left ventricular dilatation; 1) 40 patients with hypertrophic obstructive cardiomyopathy (HOCM) who had resting intraventricular pressure gradients of 20 mmHg or more, 2) 80 patients with non-obstructive HCM, each of whom had ASH of the entire ventricular septum (typical ASH), and 3) 25 non-obstructive patients whose hypertrophy was localized to the apical region of the ventricular septum (apical ASH). Patients having apical hypertrophy with a spade-like configuration on the left ventriculogram were excluded from the study. Compared with HOCM and typical ASH groups, the patients with dilated HCM had family histories of significantly more frequent HCM and less frequent hypertension. The patients with dilated HCM also had significantly less fractional shortening (FS), decreased interventricular septal thickness, greater left ventricular end-diastolic pressure (LVEDP), and left ventricular dilatation. During the follow-up period (average: 3.5 years), seven patients (35%) with dilated HCM died; five from congestive heart failure (CHF), one

  6. Molecular genetics of arrhythmogenic right ventricular cardiomyopathy : emerging horizon?

    NARCIS (Netherlands)

    van Tintelen, J. Peter; Hofstra, Robert M. W.; Wiesfeld, Ans C. P.; van den Berg, Maarten P.; Hauer, Richard N. W.; Jongbloed, Jan D. H.

    Purpose of review Recent developments in the elucidation of genes underlying arrhythmogenic right ventricular cardiomyopathy and possible pathogenic mechanisms will be highlighted. Recent findings The cardiac desmosome is a multiprotein structure involved in cell-cell interactions. Mutations in

  7. 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 ...

  8. 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.

  9. Clinical characteristics and risk factors for peripartum cardiomyopathy

    African Journals Online (AJOL)

    Clinical characteristics and risk factors for peripartum cardiomyopathy. ... African Health Sciences ... If you would like more information about how to print, save, and work with PDFs, Highwire Press provides a helpful Frequently Asked ...

  10. Dietary Salt Exacerbates Isoproterenol-induced Cardiomyopathy in Rats

    Science.gov (United States)

    Spontaneously Hypertensive Heart Failure rats (SHHFs) take far longer to develop compensated heart failure and congestive decompensation than common surgical models of heart failure. Isoproterenol (ISO) infusion can accelerate cardiomyopathy in young SHHFs, while dietary salt loa...

  11. Molecular genetics of arrhythmogenic right ventricular cardiomyopathy: emerging horizon?

    NARCIS (Netherlands)

    van Tintelen, J. Peter; Hofstra, Robert Mw; Wiesfeld, Ans Cp; van den Berg, Maarten P.; Hauer, Richard Nw; Jongbloed, Jan Dh

    2007-01-01

    Purpose of review Recent developments in the elucidation of genes underlying arrhythmogenic right ventricular cardiomyopathy and possible pathogenic mechanisms will be highlighted. Recent findings The cardiac desmosome is a multiprotein structure involved in cell-cell interactions. Mutations in

  12. Psychological distress and personality factors in takotsubo cardiomyopathy

    NARCIS (Netherlands)

    Smeijers, L; Szabó, B M; Kop, W J

    2016-01-01

    Background Takotsubo cardiomyopathy (TCC) is a transient condition characterised by severe left ventricular dysfunction combined with symptoms and signs mimicking myocardial infarction. Emotional triggers are common, but little is known about the psychological background characteristics of TCC. This

  13. Matters of the heart: genetic and molecular characterisation of cardiomyopathies

    OpenAIRE

    Posafalvi, Anna

    2015-01-01

    In dit proefschrift werden verschillende aspecten van de genetische achtergrond van cardiomyopathie onderzocht, een groep van erfelijke hartafwijkingen. Cardiomyopathie ontwikkelt zich meestal op volwassen leeftijd, en kan zich uiten met verschillende symptomen. Sommige patiënten hebben kortademigheid, pijn op de borst of oedeem, anderen hebben last van hartritmestoornissen, embolieën, of zelfs plotse hartdood. Het doel van de in dit proefschrift beschreven studies was om de genetisch oorzake...

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

    OpenAIRE

    Praveen Kerala Varma; Praveen Kumar Neema

    2014-01-01

    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 an...

  15. 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.

  16. Stress Induced Cardiomyopathy with Midventricular Ballooning: A Rare Variant

    OpenAIRE

    Muhammad Umer Siddiqui; Michael C. Desiderio; Nicholas Ricculli; Arthur Rusovici

    2015-01-01

    Stress cardiomyopathy (SCM) also referred to as the ?broken heart syndrome? is a condition in which intense emotional or physical stress can cause fulminant and reversible cardiac muscle weakness. SCM most commonly involves the apical segment of left ventricle but newer and rare variants have recently been seen reported. We here report a case of rare midventricular variant of stress related cardiomyopathy. A 72-year-old female with past medical history, only significant for SVT, presented wit...

  17. Cardiac troponin T and familial hypertrophic cardiomyopathy: an energetic affair

    Science.gov (United States)

    Schwartz, Ketty; Mercadier, Jean-Jacques

    2003-01-01

    It has long been noted that while patients with familial hypertrophic cardiomyopathy due to cardiac troponin T (cTnT) mutations often suffer sudden cardiac death, they do not develop significant ventricular hypertrophy, suggesting that a distinct cellular mechanism apart from alterations in myocardial contractility is responsible. A new study has revealed that a single missense mutation in cTnT causes a striking disruption to energy metabolism, leading to cardiomyopathy. PMID:12952912

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

    Directory of Open Access Journals (Sweden)

    N.D. Oryshchyn

    2016-11-01

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

  19. 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...

  20. Treatment of depression in an adolescent with cardiomyopathy and arrhythmia.

    Science.gov (United States)

    Tanidir, Canan; Tanidir, Ibrahim C; Tuzcu, Volkan

    2015-10-01

    Patients with cardiomyopathy have a higher incidence of mood and anxiety disorders, resulting in greater probability for hospitalisation and increased risk for arrhythmia and death. We report a case of a 16-year-old boy with Danon disease, Wolff-Parkinson-White syndrome, and hypertrophic cardiomyopathy, who later developed depression and significant weight loss. The patient was successfully treated for his anxiety and depression with mirtazapine without any adverse cardiac effects.

  1. Peripartum cardiomyopathy: challenges in diagnosis and management.

    Science.gov (United States)

    Fett, James D

    2016-09-01

    Peripartum cardiomyopathy (PPCM) is one of the leading causes of maternal mortality all over the world. Fortunately, some of the most important answers to the "PPCM puzzle" are emerging: This is an update that includes current and recent research results. These developments hold promise to importantly decrease mortality from PPCM and increase recovery rates. Expert commentary: Increasing risks for the development and severity of PPCM include a genetic predisposition and the presence of any form of hypertension in pregnancy. Earlier recognition/diagnosis of PPCM confers greater opportunity for full recovery. Important biomarkers have the potential to help to recognize PPCM earlier and to provide better treatment. "Follow the Guidelines" is good advice for the best opportunity to achieve full recovery. These include the use of diuretics, BB, ACEI/ARB in tolerable dosages. Phasing out specific treatments appears to be safe for some; but the process must be individualized.

  2. Cardiomyopathy induced by incessant fascicular ventricular tachycardia.

    Science.gov (United States)

    Velázquez-Rodríguez, Enrique; Rodríguez-Piña, Horacio; Pacheco-Bouthillier, Alex; Deras-Mejía, Luz María

    2013-01-01

    A 12-year-old girl with symptoms of fatigue, decreased exercise tolerance and progressive dyspnea (New York Heart Association functional class III) with a possible diagnosis of dilated cardiomyopathy secondary to viral myocarditis. Because of incessant wide QRS tachycardia refractory to antiarrhythmic drugs, she was referred for electrophysiological study. The diagnosis was idiopathic left ventricular tachycardia involving the posterior fascicle of the left bundle branch. After successful treatment with radiofrequency catheter ablation guided by a Purkinje potential radiological and echocardiographic evaluation showed complete reversal of left ventricular function in the first 3 months and no recurrence of arrhythmia during 2 years of follow up. Copyright © 2012 Instituto Nacional de Cardiología Ignacio Chávez. Published by Masson Doyma México S.A. All rights reserved.

  3. Sepsis-Induced Cardiomyopathy: Mechanisms and Treatments

    Directory of Open Access Journals (Sweden)

    Yan-Cun Liu

    2017-08-01

    Full Text Available Sepsis is a lethal syndrome with a high incidence and a weighty economy burden. The pathophysiology of sepsis includes inflammation, immune dysfunction, and dysfunction of coagulation, while sepsis-induced cardiomyopathy (SIC, defined as a global but reversible dysfunction of both sides of the heart induced by sepsis, plays a significant role in all of the aspects above in the pathogenesis of sepsis. The complex pathogenesis of SIC involves a combination of dysregulation of inflammatory mediators, mitochondrial dysfunction, oxidative stress, disorder of calcium regulation, autonomic nervous system dysregulation, and endothelial dysfunction. The treatments for SIC include the signal pathway intervention, Chinese traditional medicine, and other specific therapy. Here, we reviewed the latest literatures on the mechanisms and treatments of SIC and hope to provide further insights to researchers and create a new road for the therapy of sepsis.

  4. with Dilated Cardiomyopathy; Clinical and Prognostic Implications

    Directory of Open Access Journals (Sweden)

    Taylan Akgun

    2014-06-01

    Full Text Available The QRS represents the simultaneous activation of the right and left ventricles, although mostof the QRS waveform is derived from the larger left ventricular musculature. Although normalQRS duration is <100 millisecond (ms, its duration and shape are quite variable from patient topatient in idiopathic dilated cardiomyopathy (IDCM. Prolongation of QRS occurs in 14% to 47%of heart failure (HF patients. Left bundle branch block (LBBB is far more common than rightbundle branch block (RBBB. Dyssynchronous left ventricular activation due to LBBB and otherintraventricular conduction blocks provides the rationale for the use of cardiac resynchronizationtherapy with biventricular pacing in patients with IDCM. Fragmented QRS (fQRS is a markerof depolarization abnormality and present in significant number of the patients with IDCM andnarrow QRS complexes. It is associated with arrhythmic events and intraventricular dyssynchrony.The purpose of this manuscript is to present an overview on some clinical, echocardiographic andprognostic implications of various QRS morphologies in patients with IDCM.

  5. 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....

  6. A Case Report of Reversible Dilated Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Abhishek Singhai

    2014-01-01

    Full Text Available Dilated cardiomyopathy (DCM is mostly an idiopathic disease with a progressive and irreversible course. It carries poor prognosis and outcome. Rarely, a reversible metabolic etiology that is amenable to specific therapy is identified. Alteration in thyroid status can lead to changes in systolic and diastolic function of left ventricle. Heart is sensitive to thyroid hormone changes, and cardiac disorders are commonly associated with both hyper and hypothyroidism. Diastolic dysfunction is the most common abnormality reported in hypothyroidism. In systolic function, prolonged systolic time interval or normal cardiac function has been reported by most workers. DCM is a rare presentation of hypothyroidism. Here, we report a case of 40-year-old female diagnosed with DCM due to hypothyroidism

  7. 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.

  8. 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.

  9. [A reversible cause of dilated cardiomyopathy: hypocalcemia].

    Science.gov (United States)

    Benzarouel, D; Hasni, K; Ashab, H; El Hattaoui, M

    2014-04-01

    Hypocalcemia is very rare reversible cause of dilated cardiomyopathy (DCMP) witch can concern one or both ventricules. We here presented two cases of DCMP that caused by hypocalcemia and recovered totally after oral calcium and vitamin D supplementation. CASE PRESENTATION 1: A 29-year-old Caucasian female was admitted in our hospital due to congestive heart failure with dyspnea (NYHA class IV) and generalized edema for 2days. She had a history of total thyroidectomy one year a go. She had taken synthyroid as a daily medication associated to calcium supplementation and vitamin D because of hypoparathyroidism. Patient was not compliant to treatment. Trans thoracic echocardiography (TTE) showed a dilated left ventricule (LV) with global hypokinesia with 28% of left ventricule ejection and moderate mitral regurgitation. Laboratory test showed a severe hypocalcemia. After correction of hypocalcemia, there was a clear clinical improvement and four months later a total recovery was found. CASE PRESENTATION 2: A 44-year-old Caucasian male was referred to the hospital for rebel congestive heart failure with dyspnea and edema of lower limbs despite optimal treatment. Patient had no medical past history. TEE showed dilated cardiomyopathy with severe alteration of left ventricule systolic function (25%). Biological tests showed a hypocalcemia and primary hypoparathyroidism. An improvement of symptoms after correction of metabolic disorder was found. LV gradually recovered its performance. Patients outcome in end stage heart failure is different from the classical outcomes in patients with hypocalcemia induced heart disease. DCMP induced by hypocalcemia should be considered in patients with heart failure associated with medical conditions leading to hypocalcemia. It requires a specific treatment. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  10. Therapeutic effects of rapamycin on alcoholic cardiomyopathy.

    Science.gov (United States)

    Tu, Xilin; Wang, Chao; Ru, Xiaoxue; Jing, Lili; Zhou, Lijun; Jing, Ling

    2017-10-01

    The present study aimed to investigate whether rapamycin has therapeutic potential as a treatment for alcoholic cardiomyopathy. Rats were divided into eight groups (n=7 in each group): The control group; the alcohol group; abstinence in the first week; abstinence in the third week; abstinence in the fourth week; abstinent+rapamycin (AB-RAP) until the first week (AB-RAP 1); AB-RAP until the third week (AB-RAP 3); and AB-RAP until the fourth week (AB-RAP 4). Subsequently, echocardiography, and hematoxylin-eosin and Masson's staining were performed, followed by electron microscopy and terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling assay. Finally, expression levels of B cell lymphoma-2, Beclin-1 and microtubule-associated protein 1A/1B-light chain 3 were detected by immunohistochemistry and western blot analysis. The levels of left ventricular end-diastolic dimension in AB-RAP 3 (7.00±0.41) and AB-RAP 4 (6.33±0.68) groups were significantly lower when compared with the alcohol group (8.01±0.30; P<0.05). Compared with the alcohol group, the apoptosis rate of left ventricular myocardial tissue in the AB+RAP 3 (37.68±2.15) and AB+RAP 4 (26.97±2.11) groups was significantly reduced (P<0.05). To conclude, rapamycin may be considered as a therapeutic tool to attenuate alcoholic cardiomyopathy and improve cardiac function through increasing autophagy and reducing apoptosis.

  11. Adderall induced inverted-Takotsubo cardiomyopathy.

    Science.gov (United States)

    Alsidawi, Said; Muth, James; Wilkin, James

    2011-11-15

    Takotsubo Cardiomyopathy (TTC), also known as stress-induced cardiomyopathy, was initially described in Japan in 1990. Both illicit and prescription drugs have added to the growing list of insulting stressors. We describe an interesting case of atypical TTC triggered by adderall overdose. A 19-year-old female was brought to the Emergency Department after ingesting 30 Adderall tablets. She was complaining of pressure like chest pain and shortness of breath. Her cardiac enzymes were elevated but the electrocardiogram was unremarkable. Echocardiography identified an ejection fraction (EF) of 25-30% with severe hypokinesis of the base and a preserved apex. Cardiac angiography demonstrated normal coronary arteries with an EF of 35%, hyperkinetic apex and akinetic base consistent with the diagnosis of inverted-TTC. Her symptoms resolved in 24 hrs. Repeat echocardiogram performed 3 days later showed an EF of 60% with no regional wall motion abnormalities. TTC can be identified as a rapid development of severe and reversible left ventricular dysfunction extending beyond the territory of a single epicardial coronary artery in the absence of coronary artery disease or pheochromocytoma. Clinical presentation can be challenging and very hard to distinguish from acute myocardial infarction. Medication induced-TTC has been reported. In our case, the patient overdosed on Adderall which is a sympathomimetic medication. Cardiac imaging identified wall motion abnormalities consistent with inverted type TTC. Restoration of left ventricular function within days confirms the diagnosis of TTC. In conclusion, this case offers an interesting insight into the pathophysiology of TTC. Copyright © 2011 Wiley Periodicals, Inc.

  12. 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.

  13. Contrast-enhanced cardiovascular magnetic resonance in primary and ischemic dilated cardiomyopathy.

    Science.gov (United States)

    Calore, Chiara; Cacciavillani, Luisa; Boffa, Giovanni Maria; Silva, Caterina; Tiso, Enrico; Marra, Martina Perazzolo; Bacchiega, Enrico; Corbetti, Francesco; Iliceto, Sabino

    2007-10-01

    Differentiation between primary dilated cardiomyopathy and ischemic cardiomyopathy has an important clinical significance. Contrast-enhanced cardiovascular magnetic resonance can play a role in this task, identifying myocardial scarring or fibrosis as presence of delayed enhancement. The aim of the present study was to evaluate the diagnostic potential of contrast-enhanced cardiovascular magnetic resonance in differentiating dilated cardiomyopathy from ischemic cardiomyopathy. Contrast-enhanced cardiovascular magnetic resonance was performed in 100 patients with left ventricular dilatation and reduced systolic function: 24 had normal coronary arteries (dilated cardiomyopathy group) and 76 had significant coronary artery disease (ischemic cardiomyopathy group), with or without previous myocardial infarction. In the dilated cardiomyopathy group, only seven (29%) patients showed delayed enhancement and its pattern was characterized by mid-wall, patchy or diffuse location. All patients with ischemic cardiomyopathy and prior myocardial infarction (54 subjects) showed delayed enhancement with subendocardial (n = 4) or transmural (n = 50) extension. Among the 22 patients with ischemic cardiomyopathy but without previous myocardial infarction, 13 (59%) showed either subendocardial (n = 4) or transmural (n = 9) delayed enhancement. Patterns of delayed enhancement are different in dilated cardiomyopathy and ischemic cardiomyopathy, reflecting the presence of scarring or various degrees of fibrosis in left ventricular myocardium. The presence of subendocardial or transmural delayed enhancement at contrast-enhanced cardiovascular magnetic resonance allowed distinction between dilated cardiomyopathy and ischemic cardiomyopathy with high sensitivity (88%) and specificity (100%). Integration of cardiovascular magnetic resonance results with angiographic information can be useful in the identification of pathogenic mechanisms underlying left ventricular dysfunction.

  14. Infrequent tumor initiative of the Children's Oncology Group: initial lessons learned and their impact on future plans.

    Science.gov (United States)

    Pappo, Alberto S; Krailo, Mark; Chen, Zhengjia; Rodriguez-Galindo, Carlos; Reaman, Gregory

    2010-11-20

    The merger of the Pediatric Oncology Group, Children's Cancer Group, the Intergroup Rhabdomyosarcoma Study Group, and the National Wilms Tumor Study Group in 2000 offered the newly formed Children's Oncology Group (COG), an opportunity to study rare cancers that had not been the subject of organized evaluation within the context of a cooperative group. In 2002, the COG formed the rare tumor committee which is comprised of four subcommittees. This article details the experience of the infrequent tumor subcommittee for the period of 2002 to 2007. During the initial implementation of this strategy, we have observed low rates of registration within the COG registry and low levels of participation in open banking, biology, and first-line therapeutic studies. This initial experience has allowed us to develop alternative strategies to increase registration rates and clinical trial enrollments. It is hoped that these new plans will allow us to increase our ability to better understand the biology and improve the treatment outcome of young patients with infrequent cancers. Furthermore, our initial experience has demonstrated to us the potential power of expanded cooperation and collaboration at a global level.

  15. [Factors associated with infrequent condom use amongst men having sex with other men in Ciudad Juárez].

    Science.gov (United States)

    Mendoza-Pérez, Juan C; Ortiz-Hernández, Luis

    2009-10-01

    Analysing the factors associated with inconsistent condom use amongst men having sex with other men (MSM) in Ciudad Juárez, Chihuahua. This was an observational, cross-sectional analytic study using a convenience sample (n=186) of MSM from Ciudad Juarez. Socioeconomic status, attitudes toward condom use, drug use, alcohol consumption, sexual orientation were considered as independent variables. Dependent variables were sexual behaviour related to HIV infection (inconsistent condom use in anal penetration and receiving semen in the mouth or anus). Whereas 30 % of the MSM interviewed infrequently used a condom when they practiced receptive anal sex, when they had insertive anal sex, 39.1 % reported receiving semen in the mouth and 35.5 % in the anus. Multivariate logistic regression models were used, observing that the groups of men having the highest probability of risky sexual behavior (compared to their counterparts) were younger men (<20 years), those earning medium income, those having a negative attitude towards condom use, men using drugs or alcohol and those who reported homosexual identity. An important percentage of MSM infrequently used a condom. The implications of our findings should be used when designing programmes for promoting condom use amongst MSM.

  16. 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. Copyright © 2011 Wiley-Liss, Inc.

  17. Methods for antimicrobial dilution and disk susceptibility testing of infrequently isolated or fastidious bacteria; third edition (M45, 3rd ed.)

    National Research Council Canada - National Science Library

    Bernard, Kathryn

    2015-01-01

    "This guideline informs clinical, public health, and research labortories on susceptibility testing of infrequently isolated or fastidious bacteria that are not included in CLSI documents M02, M07, or M100...

  18. 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...

  19. The MOGE(S) classification : A TNM-like classification for cardiomyopathies.

    Science.gov (United States)

    Şahan, E; Şahan, S; Karamanlıoğlu, M; Gul, M; Tufekcioğlu, O

    2016-09-01

    Cardiomyopathy is a disease of the heart muscle resulting from genetic defects, cardiac myocyte injury, or infiltration of the myocardium. Cardiomyopathies are traditionally defined as dilated, restrictive, and hypertrophic cardiomyopathy. Today, the genetic basis of most diseases has been clearly defined and has influenced the approach to familial diseases such as cardiomyopathies. Traditional definitions of cardiomyopathies, such as those by the American Heart Association and the European Society of Cardiology, do not consider the genetic basis of cardiomyopathies. In 2013, the World Heart Federation added the genetic basis of cardiomyopathies and proposed a descriptive genotype-phenotype nosology system termed "MOGE(S)." The MOGE(S) system resembles the TNM classification system for malignancy, and therefore it can be useful for the diagnosis, management, and treatment of cardiomyopathies in a similar manner to cancer management.

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

    Directory of Open Access Journals (Sweden)

    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.

  1. 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 whet...

  2. Prevalence of hypertrophic cardiomyopathy in highly trained athletes: relevance to pre-participation screening

    National Research Council Canada - National Science Library

    Basavarajaiah, Sandeep; Wilson, Matthew; Whyte, Gregory; Shah, Ajay; McKenna, William; Sharma, Sanjay

    2008-01-01

    This study sought to determine the prevalence of hypertrophic cardiomyopathy (HCM) in elite athletes. Hypertrophic cardiomyopathy is considered to be the most common cause of exercise-related sudden death in young athletes...

  3. 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

  4. Pattern of delayed myocardial enhancement: A key to differentiate ischemic and non-ischemic cardiomyopathies

    Directory of Open Access Journals (Sweden)

    N.H. Behairy

    2014-03-01

    Conclusion: The pattern of myocardial enhancement can be used as a key to diagnose all types of cardiomyopathies. The use of cardiac magnetic resonance in cardiomyopathy is important to quantify myocardial fibrosis as this has prognostic implications.

  5. 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

  6. 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

    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

  7. Dobutamine Stress Echocardiography in Patients with Dilated Cardiomyopathy

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    Miloradovic Vladimir

    2016-06-01

    Full Text Available A clear distinction between two of the most common forms of dilated cardiomyopathy is very important due to their different prediction and therapeutic approaches. Dobutamine stress echocardiography appears to be a noninvasive selection method due to its clear differentiation potential. Major factors influence test interpretation, resulting in a wide interval of diagnostic accuracy for this test. Fraction flow reserve (FFR is a novel invasive method for estimating coronary artery stenosis responsible for myocardium ischaemia. Decisions about lesion significance in coronary blood vessels have thus far been based on angiographic estimations, but this approach is being replaced by FFR measurements, which serve as a new gold standard and involve a noninvasive test. The goal of this study was to clearly differentiate two forms of dilated cardiomyopathies through analysis of the segmented mobility of the left ventricular wall. Fifty patients were analysed: 20 with ischaemic dilated cardiomyopathy, which was confirmed not only through coronary angiography but also functionally through FFR measurement, and 30 patients with nonischaemic dilated cardiomyopathy, which was confirmed by coronary angiography. A standard dobutamine stress echocardiography protocol was implemented. A positive dobutamine stress echocardiography test was defined as the presence of emerging incidents in segment contractility or worsening of existing incidents in at least one segment. Statistically relevant diff erences in the movement dynamics of a number of differently characterised segments during the observed time intervals (ANOVA p=0.000 was noted in both groups of patients, as was variation in the index value of the summarized mobility of the left chamber wall. In patients with ischaemic cardiomyopathies, regional contractility worsened at the maximum dose of dobutamine; in contrast, this feature slightly improved in nonischaemic cardiomyopathy patients. The results indicate

  8. ANP AFFECTS CARDIAC REMODELING, FUNCTION, HEART FAILURE AND SURVIVAL IN A MOUSE MODEL OF DILATED CARDIOMYOPATHY

    OpenAIRE

    Wang, Dong; Gladysheva, Inna P.; Fan, Tai-Hwang M.; Sullivan, Ryan; Houng, Aiilyan K.; Reed, Guy L.

    2013-01-01

    Dilated cardiomyopathy is a frequent cause of heart failure and death. Atrial natriuretic peptide (ANP) is a biomarker of dilated cardiomyopathy, but there is controversy whether ANP modulates the development of heart failure. Therefore we examined whether ANP affects heart failure, cardiac remodeling, function and survival in a well-characterized, transgenic model of dilated cardiomyopathy. Mice with dilated cardiomyopathy with normal ANP levels survived longer than mice with partial ANP (p

  9. 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

  10. Risk Stratification in Arrhythmogenic Right Ventricular Cardiomyopathy.

    Science.gov (United States)

    Calkins, Hugh; Corrado, Domenico; Marcus, Frank

    2017-11-21

    Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by ventricular arrhythmias and an increased risk of sudden cardiac death. Although structural abnormalities of the right ventricle predominate, it is well recognized that left ventricular involvement is common, particularly in advanced disease, and that left-dominant forms occur. The pathological characteristic of ARVC is myocyte loss with fibrofatty replacement. Since the first detailed clinical description of the disorder in 1982, significant advances have been made in understanding this disease. Once the diagnosis of ARVC is established, the single most important clinical decision is whether a particular patient's sudden cardiac death risk is sufficient to justify placement of an implantable cardioverter-defibrillator. The importance of this decision reflects the fact that ARVC is a common cause of sudden death in young people and that sudden death may be the first manifestation of the disease. This decision is particularly important because these are often young patients who are expected to live for many years. Although an implantable cardioverter-defibrillator can save lives in individuals with this disease, it is also well recognized that implantable cardioverter-defibrillator therapy is associated with both short- and long-term complications. Decisions about the placement of an implantable cardioverter-defibrillator are based on an estimate of a patient's risk of sudden cardiac death, as well as their preferences and values. The primary purpose of this article is to provide a review of the literature that concerns risk stratification in patients with ARVC and to place this literature in the framework of the 3 authors' considerable lifetime experiences in caring for patients with ARVC. The most important parameters to consider when determining arrhythmic risk include electric instability, including the frequency of premature ventricular contractions and

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

    Science.gov (United States)

    Grothoff, Matthias; Pachowsky, Milena; Hoffmann, Janine; Posch, Maximilian; Klaassen, Sabine; Lehmkuhl, Lukas; Gutberlet, Matthias

    2012-12-01

    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(compacted)), non-compacted (LV-MMI(non-compacted)), percentage LV-MM(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(non-compacted) and percentage LV-MM(non-compacted) were discriminators between patients with LVCN, healthy controls and those with other cardiomyopathies with cut-offs of 15 g/m(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(non-compacted) or the percentage LV-MM(non-compacted) and increased trabeculation in basal segments allows one to reliably diagnose LVNC and to differentiate it from other cardiomyopathies. Cardiac magnetic resonance imaging can reliably diagnose left ventricular non-compaction cardiomyopathy. Differentiation of LVNC from other cardiomyopathies and normal hearts is possible. The best diagnostic performance can be achieved if combined MRI criteria for the diagnosis are used.

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

    Science.gov (United States)

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

    2015-06-16

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

  13. Autosomal Dominant Polycystic Kidney Patients May Be Predisposed to Various Cardiomyopathies

    Directory of Open Access Journals (Sweden)

    Fouad T. Chebib

    2017-09-01

    Discussion: Coexistence of ADPKD and cardiomyopathy in our tertiary referral center cohort appears to be higher than expected by chance. We suggest that PKD1 and PKD2 mutations may predispose to primary cardiomyopathies and that genetic interactions may account for the observed coexistence of ADPKD and cardiomyopathies.

  14. Muscle Stem Cell Therapy for the Treatment of DMD Associated Cardiomyopathy

    Science.gov (United States)

    2015-12-01

    Award Number: W81XWH-11-1-0803 TITLE: Muscle Stem Cell Therapy for the Treatment of DMD Associated Cardiomyopathy PRINCIPAL INVESTIGATOR...Stem Cell Therapy for the Treatment of DMD Associated Cardiomyopathy 5a. CONTRACT NUMBER Cardiomyopathy 5b. GRANT NUMBER W81XWH-11-1-0803

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

    Science.gov (United States)

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

    2013-01-01

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

  16. Cardiac metabolism; from bench to bedside: Diabetic cardiomyopathy, a disease of cardiac metabolism?

    OpenAIRE

    Neyses, Ludwig

    2012-01-01

    The study of diabetic cardiomyopathy is an area of significant interest given the strong association between diabetes and the risk of heart failure. Many unanswered questions remain regarding the clinical definition and pathogenesis of this metabolic cardiomyopathy. This article reviews the current understanding of diabetic cardiomyopathy with a particular emphasis on the unresolved issues that have limited translation of scientific discovery to patient bedside.

  17. Pharmacological and non-pharmacological treatment of obstructive hypertrophic cardiomyopathy.

    Science.gov (United States)

    Hidalgo, Luis F; Naidu, Srihari S; Aronow, Wilbert S

    2018-01-01

    Hypertrophic obstructive cardiomyopathy has been rising in prevalence, due to increased awareness and advanced imaging. For the symptomatic patient, pharmacological management remains an effective approach to the majority of patients with obstructive hypertrophic cardiomyopathy. However, a significant subset fails to improve sufficiently with medical therapy initially, or progressively becomes more symptomatic despite augmented medications over time. Most of the advances in the treatment of obstructive hypertrophic cardiomyopathy have therefore been made in the area of non-pharmacologic management, particularly septal reduction therapy. Both surgical myectomy and alcohol septal ablation have undergone iterative modifications that improve outcomes. Current guidelines support these therapies based on large observational studies, with choice of therapy based on a variety of factors but again based primarily on expert consensus opinion. Areas covered: This article reviews both pharmacological and non-pharmacological interventions to improve outflow tract obstruction and symptoms, and provides an algorithm for addressing the symptomatic obstructive patient. Expert commentary: Current options for hypertrophic cardiomyopathy allow the majority of patients to live their lives with no more than NYHA Class 2 heart failure symptoms. Treatment algorithms can add in identification of patients who may benefit from advanced therapies, and should be instituted routinely to improve care for the majority of patients with symptomatic hypertrophic cardiomyopathy.

  18. 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. © 2014, Wiley Periodicals, Inc.

  19. Imaging of Inflammation in Unexplained Cardiomyopathy.

    Science.gov (United States)

    Kadkhodayan, Ana; Chareonthaitawee, Panithaya; Raman, Subha V; Cooper, Leslie T

    2016-05-01

    Myocarditis is a recognized but underdiagnosed cause of cardiomyopathy due to its wide clinical spectrum and nonspecific presentation. Accurate diagnosis is important because 25% of patients with acute myocarditis develop cardiomyopathy, and of those, approximately 5% per year require heart transplantation or die. Current guidelines for the recognition and treatment of the inflammatory cardiomyopathies are limited. The gold standard for diagnosis, endomyocardial biopsy, has low sensitivity, and thus, multimodality imaging of inflammation plays a crucial role in defining the cardiac abnormalities and in assisting with diagnosis and management. The literature on inflammatory cardiomyopathies is limited to small studies of selected populations due to the diverse etiologies and inherent difficulties in definitive diagnosis. This review focuses on the current and projected use of various imaging modalities, including echocardiography, cardiac magnetic resonance, and nuclear imaging to better define inflammatory cardiomyopathies and aid in their management; it specifically focuses on cardiac sarcoidosis, and giant cell, eosinophilic, and lymphocytic myocarditis. Copyright © 2016 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  20. 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.

  1. Is it time to include ion channel diseases among cardiomyopathies?

    Science.gov (United States)

    Corrado, Domenico; Basso, Cristina; Thiene, Gaetano

    2005-10-01

    Heart muscle diseases are traditionally classified according to their peculiar pathophysiologic features such as "dilated," "hypertrophic," "restrictive," and "arrhythmogenic right ventricular" cardiomyopathy. The extraordinary advances accomplished in the last two decades in molecular genetics have allowed the identification of the genetic background of most of these conditions. According to the 1995 World Health Organization definition of cardiomyopathies as "diseases of the myocardium associated with cardiac dysfunction," they should include not only forms with hemodynamic dysfunction, but also conduction and rhythm disturbances. Arrhythmias are per se a sign of cardiac dysfunction and may reflect an underlying myocardial electrical disease with or without structural abnormalities as features. Nonstructural arrhythmogenic heart diseases include long and short QT syndromes, Brugada syndrome, Lènegre disease, and catecholaminergic polymorphic ventricular tachycardia. These conditions are defined as "channelopathies" because they are the consequence of cardiac ion channel gene mutations. Long and short QT syndromes are mostly caused by either sodium or potassium ion channel gene mutations; Brugada syndrome and Lènegre disease are both related to a defective sodium channel gene; and polymorphic ventricular tachycardia is the result of an abnormal ryanodine receptor regulating calcium release from the sarcoplasmic reticulum. These nonstructural inherited arrhythmic conditions should be regarded as cardiomyopathies because the myocyte is abnormal, although the heart is apparently intact. It is time for a new classification of cardiomyopathies taking into account the underlying gene mutations and the cellular level of expression of encoded proteins, thus distinguishing cytoskeleton (cytoskeletalopathies), desmosomal (desmosomalopathies), sarcomeric (sarcomyopathies), and ion channel (channelopathies) cardiomyopathies.

  2. Noncompaction cardiomyopathy: manifestation as a surgical pitfall - rare but real.

    Science.gov (United States)

    Marathe, Supreet P; Vaideeswar, Pradeep; Parikh, Roneil; Mishra, Prashant; Aironi, Balaji; Agrawal, Nandkishor B; Karunamurthy, Arivarsan

    2015-02-01

    Noncompaction cardiomyopathy is characterized by hyper-trabeculation of the myocardium. The patients present with heart failure and variable combination of arrhythmias and thromboembolism. Although several articles have shed light on the medical aspect of this disease, none have highlighted its surgical relevance. A death following ligation of a patent ductus arteriosus prompted us to evaluate the surgical aspects of this disease. Autopsy records from 2003 to 2012 were reviewed, and cases identified as noncompaction cardiomyopathy were retrieved and analyzed. Cases with obligatory hyper-trabeculation were excluded. Thirteen patients were found to have noncompaction cardiomyopathy in 9427 autopsies performed. Their ages ranged from 4 months to 55 years; 10 were children, and all 3 adults were over 45 years of age. Only one patient had an antemortem diagnosis of noncompaction cardiomyopathy on echocardiography. There were 7 postoperative deaths. Although noncompaction cardiomyopathy is rare, missing its diagnosis in a patient operated on for another indication can spell disaster postoperatively. As the clinical picture is nonspecific and the disease is not very well known, it needs vigilance on the part of the echocardiographer and surgeon. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  3. Genetic advances in sarcomeric cardiomyopathies: state of the art.

    Science.gov (United States)

    Ho, Carolyn Y; Charron, Philippe; Richard, Pascale; Girolami, Francesca; Van Spaendonck-Zwarts, Karin Y; Pinto, Yigal

    2015-04-01

    Genetic studies in the 1980s and 1990s led to landmark discoveries that sarcomere mutations cause both hypertrophic and dilated cardiomyopathies. Sarcomere mutations also likely play a role in more complex phenotypes and overlap cardiomyopathies with features of hypertrophy, dilation, diastolic abnormalities, and non-compaction. Identification of the genetic cause of these important conditions provides unique opportunities to interrogate and characterize disease pathogenesis and pathophysiology, starting from the molecular level and expanding from there. With such insights, there is potential for clinical translation that may transform management of patients and families with inherited cardiomyopathies. If key pathways for disease development can be identified, they could potentially serve as targets for novel disease-modifying or disease-preventing therapies. By utilizing gene-based diagnostic testing, we can identify at-risk individuals prior to the onset of clinical disease, allowing for disease-modifying therapy to be initiated early in life, at a time that such treatment may be most successful. In this section, we review the current application of genetics in clinical management, focusing on hypertrophic cardiomyopathy as a paradigm; discuss state-of-the-art genetic testing technology; review emerging knowledge of gene expression in sarcomeric cardiomyopathies; and discuss both the prospects, as well as the challenges, of bringing genetics to medicine. © The Author 2015. Published by Oxford University Press on behalf of the European Society of Cardiology.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    Chan, Christina; Elliott, John; Troughton, Richard; Frampton, Christopher; Smyth, David; Crozier, Ian; Bridgman, Paul

    2013-01-01

    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. 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. There was a significant increase in overall admissions (pearthquake. 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 (pearthquake 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.

  6. Infrequent breakfast consumption is associated with higher body adiposity and abdominal obesity in Malaysian school-aged adolescents.

    Directory of Open Access Journals (Sweden)

    Abdullah Nurul-Fadhilah

    Full Text Available Unhealthy dietary pattern increases the risk of obesity and metabolic disorders in growing children and adolescents. However, the way the habitual pattern of breakfast consumption influences body composition and risk of obesity in adolescents is not well defined. Thus, the aim of the present study was to assess any associations between breakfast consumption practices and body composition profiles in 236 apparently healthy adolescents aged 12 to 19 years. A self-administered questionnaire on dietary behaviour and lifestyle practices and a dietary food frequency questionnaire were used. Body composition and adiposity indices were determined using standard anthropometric measurement protocols and dual energy χ-ray absorptiometry (DXA. Mean age of the participants was 15.3±1.9 years. The majority of participants (71.2% fell in the normal body mass index (BMI ranges. Breakfast consumption patterns showed that only half of the participants (50% were consuming breakfast daily. Gender-specific multivariate analyses (ANCOVA showed that in both boys and girls, those eating breakfast at least 5 times a week had significantly lower body weight, body mass index (BMI, BMI z-scores, waist circumference, body fat mass and percent body fat (%BF compared to infrequent breakfast eaters, after adjustment for age, household income, pubertal status, eating-out and snacking practices, daily energy intakes, and daily physical activity levels. The present findings indicate that infrequent breakfast consumption is associated with higher body adiposity and abdominal obesity. Therefore, daily breakfast consumption with healthy food choices should be encouraged in growing children and adolescents to prevent adiposity during these critical years of growth.

  7. [Recurrent postpartum pyoderma gangrenosum and fatal cardiomyopathy].

    Science.gov (United States)

    Naciri, I; Meziane, M; Benzekri, L; Ghaouti, M; Senouci, K; Hassam, B

    2017-12-06

    We report a case of recurrent post-partum pyoderma gangrenosum (PG) complicated by post-partum cardiomyopathy (PPCM). A 23-year-old woman presented with a previous medical history of aseptic abscess of the left breast in her fourth pregnancy, which developed after surgical drainage of an inflammatory ulceration treated by atraumatic topical care. During her fifth pregnancy, the patient presented a large and painful ulceration in relation to the scar of the Caesarean section, despite the introduction of broad-spectrum antibiotic therapy. Bacteriological samples were negative. Histological examination militated in favor of PG. One week after initiation of corticosteroid therapy, the patient suddenly showed signs of heart failure. Based on trans-thoracic echocardiography PPCM was diagnosed, and the outcome was fatal. This observation raises the question of the relationship between PG and pregnancy and describes the association of PG and PPCM. PG occurs rarely during pregnancy and it may be induced by the rise in G-CSF levels found in pregnant women. The association with PPCM seen in our patient could have been due to the development of an anti-angiogenic climate at the end of pregnancy, together with inflammatory myocardial aggression linked to the PG. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  8. Peripartum cardiomyopathy: A puzzle closer to solution

    Science.gov (United States)

    Fett, James D

    2014-01-01

    Peripartum cardiomyopathy (PPCM) represents new heart failure in a previously heart-healthy peripartum patient. It is necessary to rule out all other known causes of heart failure before accepting a diagnosis of PPCM. The modern era for PPCM in the United States and beyond began with the report of the National Institutes of Health PPCM Workshop in 2000, clarifying all then-currently known aspects of the disease. Since then, hundreds of publications have appeared, an indication of how devastating this disease can be to young mothers and their families and the urgent desire to find solutions for its cause and better treatment. The purpose of this review is to highlight the important advances that have brought us nearer to the solution of this puzzle, focusing on what we have learned about PPCM since 2000; and what still remains unanswered. Despite many improvements in outcome, we still do not know the actual triggers that initiate the pathological process; but realize that cardiac angiogenic imbalances resulting from complex pregnancy-related immune system and hormonal changes play a key role. PMID:24669290

  9. [Cardiac magnetic resonance and uremic cardiomyopathy].

    Science.gov (United States)

    Di Lullo, L; Gorini, A; Rivera, R; De Pascalis, A; Bellasi, A; Russo, D; Barbera, V; Ronco, C; Balducci, A; Santoboni, A

    2014-01-01

    Cardiovascular disease (CV) represents the main risk factor for morbidity and mortality in chronic kidney disease (CKD) patients. Large epidemiological studies have shown direct association between severity of CKD and CV event rates. Although patients with end-stage renal disease (ESRD), including dialysis ones, are at greater CV risk, cardiovascular involvement is already evident at the early stages of CKD. End-stage CKD is characterized conventional atherosclerotic risk factor but they cannot account for CV risk as reflected in high rates of sudden cardiac death, heart failure and myocardial infarction. Non-atherosclerotic processes, including left ventricular hypertrophy and fibrosis, mostly account for the excess risk of CV. Employment of cardiac magnetic resonance (CMR) in CKD has brought an improved understanding of the adverse CV changes, known as uremic cardiomyopathy. It is due to ability of cardiac magnetic resonance to provide a comprehensive non - invasive examination of cardiac structure and function, arterial function, myocardial tissue characterization (T1 mapping and inversion recovery imaging), and myocardial metabolic function (spectroscopy).

  10. The embryological basis of subclinical hypertrophic cardiomyopathy.

    Science.gov (United States)

    Captur, Gabriella; Ho, Carolyn Y; Schlossarek, Saskia; Kerwin, Janet; Mirabel, Mariana; Wilson, Robert; Rosmini, Stefania; Obianyo, Chinwe; Reant, Patricia; Bassett, Paul; Cook, Andrew C; Lindsay, Susan; McKenna, William J; Mills, Kevin; Elliott, Perry M; Mohun, Timothy J; Carrier, Lucie; Moon, James C

    2016-06-21

    Hypertrophic cardiomyopathy (HCM) is caused by mutations in sarcomeric proteins, the commonest being MYBPC3 encoding myosin-binding protein C. It is characterised by left ventricular hypertrophy but there is an important pre-hypertrophic phenotype with features including crypts, abnormal mitral leaflets and trabeculae. We investigated these during mouse cardiac development using high-resolution episcopic microscopy. In embryonic hearts from wildtype, homozygous (HO) and heterozygous (HET) Mybpc3-targeted knock-out (KO) mice we show that crypts (one or two) are a normal part of wildtype development but they almost all resolve by birth. By contrast, HO and HET embryos had increased crypt presence, abnormal mitral valve formation and alterations in the compaction process. In scarce normal human embryos, crypts were sometimes present. This study shows that features of the human pre-hypertrophic HCM phenotype occur in the mouse. In an animal model we demonstrate that there is an embryological HCM phenotype. Crypts are a normal part of cardiac development but, along with the mitral valve and trabeculae, their developmental trajectory is altered by the presence of HCM truncating Mybpc3 gene mutation.

  11. Right ventricular involvement in feline hypertrophic cardiomyopathy.

    Science.gov (United States)

    Schober, K E; Savino, S I; Yildiz, V

    2016-12-01

    To evaluate right ventricular (RV) wall thickness and chamber dimensions in cats with hypertrophic cardiomyopathy (HCM). One hundred fifty-one healthy control cats and 200 cats with HCM. Retrospective, observational, clinical cohort study. Two-dimensional echocardiograms from all cats were analyzed. Right atrial diameter, RV free wall thickness, and RV chamber diameter were quantified using multiple imaging views. Conventional (mean ± 2 standard deviations) and allometrically scaled (Y = a × M b ) reference values were determined in normal cats and compared to values found in cats with HCM. Linear and logistic regression, multivariate regression, and mixed model analysis were performed to identify associations between RV wall thickness and severity of left ventricular (LV) hypertrophy, clinical severity of HCM, and presence of pleural effusion. Mean RV wall thickness was increased in HCM (p0.05) in control cats. Increased RV wall thickness is common in cats with HCM and relates to severity of LV hypertrophy and clinical status. Copyright © 2016 Elsevier B.V. All rights reserved.

  12. A One Health Approach to Hypertrophic Cardiomyopathy

    Science.gov (United States)

    Ueda, Yu; Stern, Joshua A.

    2017-01-01

    Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease in humans and results in significant morbidity and mortality. Research over the past 25 years has contributed enormous insight into this inherited disease particularly in the areas of genetics, molecular mechanisms, and pathophysiology. Our understanding continues to be limited by the heterogeneity of clinical presentations with various genetic mutations associated with HCM. Transgenic mouse models have been utilized especially studying the genotypic and phenotypic interactions. However, mice possess intrinsic cardiac and hemodynamic differences compared to humans and have limitations preventing their direct translation. Other animal models of HCM have been studied or generated in part to overcome these limitations. HCM in cats shows strikingly similar molecular, histopathological, and genetic similarities to human HCM, and offers an important translational opportunity for the study of this disease. Recently, inherited left ventricular hypertrophy in rhesus macaques was identified and collaborative investigations have been conducted to begin to develop a non-human primate HCM model. These naturally-occurring large-animal models may aid in advancing our understanding of HCM and developing novel therapeutic approaches to this disease. This review will highlight the features of HCM in humans and the relevant available and developing animal models of this condition. PMID:28955182

  13. 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.

  14. Selenium deficiency associated porcine and human cardiomyopathies.

    Science.gov (United States)

    Oropeza-Moe, Marianne; Wisløff, Helene; Bernhoft, Aksel

    2015-01-01

    Selenium (Se) is a trace element playing an important role in animal and human physiological homeostasis. It is a key component in selenoproteins (SeP) exerting multiple actions on endocrine, immune, inflammatory and reproductive processes. The SeP family of glutathione peroxidases (GSH-Px) inactivates peroxides and thereby maintains physiological muscle function in humans and animals. Animals with high feed conversion efficiency and substantial muscle mass have shown susceptibility to Se deficiency related diseases since nutritional requirements of the organism may not be covered. Mulberry Heart Disease (MHD) in pigs is an important manifestation of Se deficiency often implicating acute heart failure and sudden death without prior clinical signs. Post-mortem findings include hemorrhagic and pale myocardial areas accompanied by fluid accumulation in the pericardial sac and pleural cavity. Challenges in MHD are emerging in various parts of the world. Se is of fundamental importance also to human health. In the 1930s the Se deficiency associated cardiomyopathy named Keshan Disease (KD) was described for the first time in China. Various manifestations, such as cardiogenic shock, enlarged heart, congestive heart failure, and cardiac arrhythmias are common. Multifocal necrosis and fibrous replacement of myocardium are characteristic findings. Pathological findings in MD and KD show striking similarities. Copyright © 2014 Elsevier GmbH. All rights reserved.

  15. Epidemiology of cardiomyopathy - A clinical and genetic study of dilated cardiomyopathy: The EPOCH-D study

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    Soumi Das

    2015-01-01

    Full Text Available Background: Dilated Cardiomyopathy (DCM is a genetic disorder where a heterogeneous group of cardiac-muscles are involved and is characterized by ventricular dilatation, impaired systolic function, reduced myocardial contractility with left ventricular ejection fraction (LVEF less than 40%. Our study aims to report the Demographic, Clinical and Genetic profile of Indian Dilated Cardiomyopathy patients. Methodology: All patients were recruited with prior written informed consent and are of Indian origin. Results: In a total of 80 DCM patients, the prevalence was higher among males. In males, mean age of onset was comparatively less than females. In this cohort, 40% had familial inheritance. Sixty two percent of DCM patients belong to NYHA functional class II with ejection fraction (EF ranging between 21-30% and, around one third of the patients had atrial fibrillation (AF. Genetic screening revealed a novel splice site mutation LMNA (c.639+ G>C and a rare variant MYH7 (c.2769 C>T in a patient and insilico analysis of both variants suggested functional changes that were considered pathogenic. We report 3% and 4% occurance of variants, each in LMNA and MYH7, where as reported frequencies of these genes are 6% LMNA and 4% MYH7. Conclusions: DCM is often familial and all possible candidate genes should be screened to identify mutations. Such type of exercise may help in the identification of mechanistic pathways. Next generation sequencing platforms may play an important role in this respect in future.

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

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    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.

  17. Role of T1 Mapping in Inherited Cardiomyopathies.

    Science.gov (United States)

    Swoboda, Peter P; McDiarmid, Adam K; Page, Stephen P; Greenwood, John P; Plein, Sven

    2016-01-01

    T1 mapping by cardiovascular magnetic resonance is a rapidly evolving method for the quantitative assessment of tissue characteristics in cardiac disease. The myocardial T1 time can be measured without contrast (native T1) or following the administration of intravenous gadolinium-based contrast agent (post-contrast T1). By combining both of these measures, the myocardial extracellular volume fraction can be approximated. This value has been validated histologically in various inherited cardiomyopathies. Due to overlapping phenotypes, the diagnosis of inherited cardiomyopathy can at times be challenging. In this article we discuss when T1 mapping may be a useful tool in the differential diagnosis of cardiomyopathy. We also present evidence of when T1 mapping provides incremental risk stratification over other biomarkers.

  18. Atlas of the clinical genetics of human dilated cardiomyopathy

    DEFF Research Database (Denmark)

    Haas, Jan; Frese, Karen S; Peil, Barbara

    2015-01-01

    disease variants, we find titin, plakophilin-2, myosin-binding protein-C 3, desmoplakin, ryanodine receptor 2, desmocollin-2, desmoglein-2, and SCN5A variants among the most commonly mutated genes. The overlap between DCM, hypertrophic cardiomyopathy (HCM), and channelopathy causing mutations......AIM: Numerous genes are known to cause dilated cardiomyopathy (DCM). However, until now technological limitations have hindered elucidation of the contribution of all clinically relevant disease genes to DCM phenotypes in larger cohorts. We now utilized next-generation sequencing to overcome......, leading to 99.1% coverage of the target region with at least 50-fold and a mean read depth of 2415. In this well characterized cohort, we find the highest number of known cardiomyopathy mutations in plakophilin-2, myosin-binding protein C-3, and desmoplakin. When we include yet unknown but predicted...

  19. DKA-Induced Takotsubo Cardiomyopathy in Patient with Known HOCM

    Directory of Open Access Journals (Sweden)

    Ayla Gordon

    2017-01-01

    Full Text Available The first published case of Diabetic Ketoacidosis-induced Takotsubo cardiomyopathy was in 2009. Our patient is the 1st reported case of Diabetic Ketoacidosis- (DKA- induced Takotsubo cardiomyopathy (TC in a patient with known hypertrophic cardiomyopathy (HOCM in the United States. In the literature, there are only two examples linking DKA to TC; however, this report focuses on the biochemical and physiological causes of TC in a patient with known HOCM and new-onset DKA. TC in previously diagnosed HOCM poses particular complications. With the above patient’s baseline outflow tract obstruction due to septal hypertrophy, the acute reduction in EF due to TC resulted in transient drop in brain perfusion and, therefore, syncope.

  20. Cardiomyopathies: is it time for a molecular classification?

    Science.gov (United States)

    Thiene, Gaetano; Corrado, Domenico; Basso, Cristina

    2004-10-01

    Primary myocardial diseases have always attracted the interest of the scientific community because of their obscure aetiopathogenesis. For years there was a confusion and controversy over their definition and classification. The 1995 WHO classification led to major advancements such as the introduction of a unified terminology, the official recognition of novel entities (arrhythmogenic right ventricular and idiopathic restrictive cardiomyopathies) and the definitive clarification that inflammatory heart disease has to be regarded as a cardiomyopathy. However, according to the new definition of cardiomyopathies as diseases of the myocardium associated with cardiac dysfunction, they should include not only forms with depressed contractility and impaired diastolic function, but also conduction and rhythm disturbances and enhanced arrhythmogenicity. Moreover, the recent development of molecular genetics, with the discovery of a genetic background in several forms previously defined of unknown origin, raises the need of a debate on a possible classification based on genomics.

  1. 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.

  2. Dilated Cardiomyopathy Induced by Chronic Starvation and Selenium Deficiency

    Directory of Open Access Journals (Sweden)

    Soham Dasgupta

    2016-01-01

    Full Text Available Protein energy malnutrition (PEM has been rarely documented as a cause of cardiovascular abnormalities, including dilated cardiomyopathy. Selenium is responsible for antioxidant defense mechanisms in cardiomyocytes, and its deficiency in the setting of PEM and disease related malnutrition (DRM may lead to exacerbation of the dilated cardiomyopathy. We report a rare case of a fourteen-year-old boy who presented with symptoms of congestive heart failure due to DRM and PEM (secondary to chronic starvation along with severe selenium deficiency. An initial echocardiogram showed severely depressed systolic function consistent with dilated cardiomyopathy. Aggressive nutritional support and replacement of selenium and congestive heart failure medications that included diuretics and ACE inhibitors with the addition of carvedilol led to normalization of the cardiac function within four weeks. He continues to have significant weight gain and is currently completely asymptomatic from a cardiovascular standpoint.

  3. In-hospital and long-term mortality in Takotsubo cardiomyopathy: a community hospital experience

    Directory of Open Access Journals (Sweden)

    Olga Vriz

    2016-07-01

    Full Text Available Background: Takotsubo cardiomyopathy (TTC is characterized by reversible left ventricular dysfunction, frequently precipitated by a stressful event. Despite the favorable course and good long-term prognosis, a variety of complications may occur in the acute phase of the disease. The aim of this study was to evaluate the in-hospital and long-term outcomes of a cohort of TTC patients. Methods: Fifty-five patients (mean age 68.1±12 years were prospectively followed for a mean of 69.6±32.2 months (64,635 days. In-hospital (death, heart failure, arrhythmias and long-term events (death and recurrences were recorded. Results: Patients were predominantly women (87.3% who experienced a recent stressful event (emotional or physical and were admitted to hospital for chest pain. Eleven patients (20% had a diagnosis of depressive disorder, and arterial hypertension was the most frequent cardiovascular risk factor. The ECG revealed ST-segment elevation in 43.6% of patients. At angiography, seven cases (12.7% had at least one significant (≥50% coronary artery stenosis and four patients (7.3% had myocardial bridging of the left anterior descending artery. During hospitalization, three patients died (one from cardiac causes and cardiovascular complications occurred in 12 patients. During follow-up, five patients died (none from cardiac causes, six patients had recurrences within the first year. Two patients had two recurrences: one after 114 days, triggered by an asthma attack as the first event, and the other after 1,850 days. Conclusions: In TTC patients, in-hospital and long-term mortality is primarily due to non-cardiovascular causes. Recurrences are not infrequent and coronary artery disease is not an uncommon finding.

  4. 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.

  5. [Molecular mechanisms of genetic damages of the myocardium in cardiomyopathy].

    Science.gov (United States)

    Gasanov, A G; Bershova, T V; Basargina, E N; Bakanov, M I

    2010-01-01

    The review highlighted problems of reorganization of myocardical contractile and cytoskeletal proteins in cardiomyopathy (CM). The role of the genetic factors coding contractile proteins, proteins of thin and thick filaments, and also extracellular matrix proteins in processes of formation and development of hypertrophic (HCM) and dilated (DCM) cardiomyopathy are analyzed. The mechanisms responsible for the changes in cardiac proteins on regulation involved into force generation, its transfer, recycling ATP, impairments in transmembranal signals, that finally lead to cardiac cell dysfunction determining various manifestations of CM are considered.

  6. Takotsubo Cardiomyopathy and Psychiatric Illness: Redefining the Relationship

    Directory of Open Access Journals (Sweden)

    Hannah Masoud

    2016-01-01

    Full Text Available Physicians who encounter patients in the emergency department with chest pain, palpitations, or shortness of breath may often find it difficult to differentiate diagnosis of panic attacks from acute coronary syndrome or Takotsubo Cardiomyopathy. Redefining and understanding the pathophysiological relationship of psychiatric illness including anxiety, depression, or panic attacks and Takotsubo Cardiomyopathy may help clinicians implement a more effective and beneficial model of care for this affliction that is being found to be increasingly more common in today’s age.

  7. 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.

  8. 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...... angiography, and regional akinesia is not limited to a single vascular territory. As opposed to other cardiomyopathies TTC is completely reversible, albeit with a 5% mortality rate as well as a 10% re-occurrence rate. This article summarizes the current knowledge about aetiology, diagnostics and treatment....

  9. 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.

  10. [Cardiomyopathy and ion channel diseases registry: the Szeged CardioGen Registry].

    Science.gov (United States)

    Blazsó, Péter; Kákonyi, Kornél; Forster, Tamás; Sepp, Róbert

    2017-01-01

    The Szeged cardiomyopathy and ion channel diseases registry aims to establish a representative disease-specific registry based on the recruitment of patients with different cardiomyopathies and ion channel diseases followed at the Cardiology Center, University of Szeged. The registry collects patient data on the main forms of primary cardiomyopathies (hypertrophic, dilated, restrictive, arrhythmogenic right ventricular, left ventricular non-compact, tako-tsubo cardiomyopathy) and ion channel diseases (long QT syndrome, short QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia). Patients with hypertrophic cardiomyopathy (388 patients) make up the largest group of patients in the registry. Patients with dilated cardiomyopathy (310 patients) and patients with the long QT syndrome (111 patients) form two other sizable groups. Analyzed data of the group of patients with hypertrophic cardiomyopathy indicate similar figures with regard to disease related mortality and morbidity and clinical parameters. Orv. Hetil., 2017, 158(3), 101-105.

  11. 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. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Peripartum cardiomyopathy: a systematic literature review.

    Science.gov (United States)

    Ersbøll, Anne S; Damm, Peter; Gustafsson, Finn; Vejlstrup, Niels G; Johansen, Marianne

    2016-11-01

    Peripartum cardiomyopathy (PPCM) is a rare but potentially fatal disease defined by heart failure towards the end of pregnancy or in the months following delivery. We aim to raise awareness of the condition and give the clinician an overview of current knowledge on the mechanisms of pathophysiology, diagnostics and clinical management. Systematic literature searches were performed in PubMed and Embase up to June 2016. Cohorts of more than 20 women with PPCM conducted after 2000 were selected to report contemporary outcomes and prognostic data. Guidelines and reviews that provided comprehensive overviews were included, too. New research on the pathophysiological mechanisms of PPCM points towards a two-hit multifactorial cause involving genetic factors and an antiangiogenic hormonal environment of late gestation with high levels of prolactin and sFlt-1. The prevalence of concomitant preeclampsia is high (often 30-45%) and symptoms can be similar, posing diagnostic difficulties. Most women (71-98%) present postpartum. Echocardiography is essential for diagnosis, and cardiac magnetic resonance imaging may provide new insights to pathophysiology and prognosis. Management is multidisciplinary and involves advanced heart failure therapy. Treatment, timing and mode of delivery in pregnant women depend on disease severity. The risk of relapse in subsequent pregnancies is >20%, and women are often advised against a new pregnancy. PPCM has a huge impact on cardiovascular health and reproductive life perspective. New insights into genetics, molecular pathophysiological mechanisms and clinical studies have resulted in potential disease-specific therapies, but many questions remain unanswered. © 2016 Nordic Federation of Societies of Obstetrics and Gynecology.

  13. Myocardial perfusion imaging in hyperthrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Moorin, B. [Southland Hospital, Invercargill, (New Zealand). Department of Nuclear Medicine

    1998-06-01

    Full text: Patients with Hyperthrophic Cardiomyopathy (HCM) frequently suffer from syncope and cardiac arrest which may lead to sudden death. This is most often caused by ventricular arrhythmia`s in adults, however in young patients the mechanisms are thought to be different. Ischaemia may play a significant role even in young asymptomatic HCM patients. The mechanisms of ischaemic development in HCM differ from those in the `normal` myocardium (Due to intramural small vessel abnormalities and abnormal myocellular architecture). In HCM the coronary microcirculation is most often affected and massive hypertrophy means more energy is required to promote contraction thus increasing oxygen demand and compounding the effects of any ischaemic changes. A case of a 12 year old HCM patient is presented who has symptoms of syncope associated with exercise whose mother died suddenly of cardiac arrest developed from HCM. A myocardial perfusion rest/stress study was undertaken to detect any underlying myocardial ischaemia. Myocardial perfusion scintigraphy demonstrates any reduction in the microcirculation in addition to that present in the macrocirculation, unlike angiography which will only detect the latter. In this case the scan clearly showed evidence of ischaemia in the lateral wall and this may be an explanation for her episodes of syncope. We suggest an algorithm or the routine work-up of young patients with HCM which makes aggressive use of myocardial perfusion imaging to detect ischaemic changes. This may identify patients who are at higher risk and will assist with treatment decisions. We feel myocardial perfusion scintigraphy is a sensitive non-invasive accurate method of detecting microcirculatory ischaemia and is thus invaluable in HCM patients

  14. Intraventricular vortex properties in nonischemic dilated cardiomyopathy.

    Science.gov (United States)

    Bermejo, Javier; Benito, Yolanda; Alhama, Marta; Yotti, Raquel; Martínez-Legazpi, Pablo; Del Villar, Candelas Pérez; Pérez-David, Esther; González-Mansilla, Ana; Santa-Marta, Cristina; Barrio, Alicia; Fernández-Avilés, Francisco; Del Álamo, Juan C

    2014-03-01

    Vortices may have a role in optimizing the mechanical efficiency and blood mixing of the left ventricle (LV). We aimed to characterize the size, position, circulation, and kinetic energy (KE) of LV main vortex cores in patients with nonischemic dilated cardiomyopathy (NIDCM) and analyze their physiological correlates. We used digital processing of color-Doppler images to study flow evolution in 61 patients with NIDCM and 61 age-matched control subjects. Vortex features showed a characteristic biphasic temporal course during diastole. Because late filling contributed significantly to flow entrainment, vortex KE reached its maximum at the time of the peak A wave, storing 26 ± 20% of total KE delivered by inflow (range: 1-74%). Patients with NIDCM showed larger and stronger vortices than control subjects (circulation: 0.008 ± 0.007 vs. 0.006 ± 0.005 m(2)/s, respectively, P = 0.02; KE: 7 ± 8 vs. 5 ± 5 mJ/m, P = 0.04), even when corrected for LV size. This helped confining the filling jet in the dilated ventricle. The vortex Reynolds number was also higher in the NIDCM group. By multivariate analysis, vortex KE was related to the KE generated by inflow and to chamber short-axis diameter. In 21 patients studied head to head, Doppler measurements of circulation and KE closely correlated with phase-contract magnetic resonance values (intraclass correlation coefficient = 0.82 and 0.76, respectively). Thus, the biphasic nature of filling determines normal vortex physiology. Vortex formation is exaggerated in patients with NIDCM due to chamber remodeling, and enlarged vortices are helpful for ameliorating convective pressure losses and facilitating transport. These findings can be accurately studied using ultrasound.

  15. [Genetic diagnosis of familial dilated cardiomyopathy].

    Science.gov (United States)

    Pasotti, Michele; Repetto, Alessandra; Pisani, Angela; Arbustini, Eloisa

    2002-04-01

    The definition of familial dilated cardiomyopathy (DCM) is clinically based on the presence, in the same family, of at least two members proven as affected. The prevalence of familial forms is about 25-30%. The approach to define the prevalence of familial diseases and to identify asymptomatic subjects is based on a clinical, non-invasive screening of family members of consecutive index patients. Familial DCM is commonly inherited as autosomal dominant trait; less frequently it is autosomal recessive, X-linked or matrilinear. The disease is clinically and genetically heterogeneous. Genes causally linked to this phenotype include dystrophin, dystrophin-associated glycoproteins, actin, desmin, beta-miosin heavy chain, cardiac troponin T, and mitochondrial DNA genes, mostly transfer RNAs. A peculiar phenotype is DCM associated with atrioventricular block, an autosomal dominant disorder that is causally linked to lamin A/C gene defects in a high proportion of cases. Although the knowledge on molecular genetics of DCM is progressively increasing, at present, the number of molecular diagnoses that can be provided to patients is limited to a few X-linked, autosomal dominant and matrilinear DCMs (overall, about 10% of DCMs). The new clinical approach to familial DCM studies, based on the screening of family members, will bring to the cardiologist's attention both patients and relatives, with extension of the clinical evaluation to subjects who are still healthy. On the other hand, molecular genetists will face a complex molecular field, for both high heterogeneity and poor phenotypical specificity. Therefore, interdisciplinary clinical and research projects are especially needed, hopefully coordinated by scientific societies.

  16. Modeling aeolian transport of soil-bound plutonium: considering infrequent but normal environmental disturbances is critical in estimating future dose.

    Science.gov (United States)

    Michelotti, Erika A; Whicker, Jeffrey J; Eisele, William F; Breshears, David D; Kirchner, Thomas B

    2013-06-01

    Dose assessments typically consider environmental systems as static through time, but environmental disturbances such as drought and fire are normal, albeit infrequent, events that can impact dose-influential attributes of many environmental systems. These phenomena occur over time frames of decades or longer, and are likely to be exacerbated under projected warmer, drier climate. As with other types of dose assessment, the impacts of environmental disturbances are often overlooked when evaluating dose from aeolian transport of radionuclides and other contaminants. Especially lacking are predictions that account for potential changing vegetation cover effects on radionuclide transport over the long time frames required by regulations. A recently developed dynamic wind-transport model that included vegetation succession and environmental disturbance provides more realistic long-term predictability. This study utilized the model to estimate emission rates for aeolian transport, and compare atmospheric dispersion and deposition rates of airborne plutonium-contaminated soil into neighboring areas with and without environmental disturbances. Specifically, the objective of this study was to utilize the model results as input for a widely used dose assessment model (CAP-88). Our case study focused on low levels of residual plutonium found in soils from past operations at Los Alamos National Laboratory (LANL), in Los Alamos, NM, located in the semiarid southwestern USA. Calculations were conducted for different disturbance scenarios based on conditions associated with current climate, and a potential future drier and warmer climate. Known soil and sediment concentrations of plutonium were used to model dispersal and deposition of windblown residual plutonium, as a function of distance and direction. Environmental disturbances that affected vegetation cover included ground fire, crown fire, and drought, with reoccurrence rates for current climate based on site historical

  17. Genetic variations of β-MYH7 in hypertrophic cardiomyopathy and dilated cardiomyopathy.

    Science.gov (United States)

    Tanjore, Reena; Rangaraju, Advithi; Vadapalli, Shivani; Remersu, Sushant; Narsimhan, Calambur; Nallari, Pratibha

    2010-05-01

    Hypertrophic cardiomyopathy (HCM) is known to be manifested by mutations in 12 sarcomeric genes and dilated cardiomyopathy (DCM) is known to manifest due to cytoskeletal mutations. Studies have revealed that sarcomeric mutations can also lead to DCM. Therefore, in the present study, we have made an attempt to compare and analyze the genetic variations of beta-myosin heavy chain gene (β-MYH7), which are interestingly found to be common in both HCM and DCM. The underlying pathophysiological mechanism leading to two different phenotypes has been discussed in this study. Till date, about 186 and 73 different mutations have been reported in HCM and DCM, respectively, with respect to this gene. The screening of β-MYH7 gene in both HCM and DCM has revealed some common genetic variations. The aim of the present study is to understand the pathophysiological mechanism underlying the manifestation of two different phenotypes. 100 controls, 95 HCM and 97 DCM samples were collected. Genomic DNA was extracted following rapid nonenzymatic method as described by Lahiri and Nurnberger (1991), and the extracted DNA was later subjected to polymerase chain reaction (PCR) based single stranded conformation polymorphism (SSCP) analysis to identify single nucleotide polymorphism (SNP)s/mutations associated with the diseased phenotypes. Similar variations were observed in β-MYH7 exons 7, 12, 19 and 20 in both HCM and DCM. This could be attributed to impaired energy compromise, or to dose effect of the mutant protein, or to even environmental factors/modifier gene effects wherein an HCM could progress to a DCM phenotype affecting both right and left ventricles, leading to heart failure.

  18. Epidemiology of cardiomyopathy - A clinical and genetic study of hypertrophic cardiomyopathy: The EPOCH-H study

    Directory of Open Access Journals (Sweden)

    Amitabh Biswas

    2015-01-01

    Full Text Available Background: Hypertrophic cardiomyopathy (HCM is a genetic disorder with the prevalence of 1 in 500 globally. HCM is clinically characterized by thickening of the wall of the heart, predominantly left ventricle (LV, and interventricular septum (IVS. Our study aims to report the demographical, clinical and genetic profile of Indian HCM patients. Methods: HCM patients were recruited on the basis of WHO criteria. The clinical phenotypes were analyzed using electrocardiography, two-dimensional electrocardiography, and hotspot region of the MYH7 gene was sequenced for all patients as well as for controls. Results: There were 59 patients with a clinical diagnosis of HCM with a preponderance of disease in males with a ratio (men, women of 5.5:1. Average age of onset of the disease was late 30 s (39.2 ± 14.5 with familial HCM accounting for 18% (n = 9 for total HCM families (n = 50. Nonobstructive kind of HCM was more prevalent as compared to obstructive HCM (66.1% vs. 33.9%. Average posterior wall LV thickness of the HCM patients was 16 ± 4.8 mm and IVS thickness was 21 ± 8.3 mm with familial patients having greater wall thickness as compared to sporadic patients. Sequencing of hotspot region of MYH7 identified three mutations in three different patients. Two mutations were found to be segregating in familial cases. Conclusion: HCM is more prevalent in males with a predominance of hypertrophic nonobstructive cardiomyopathy form. Eighteen percent of cases were familial and showed an early onset of the disease and worse prognosis as compared to sporadic cases. Hotspot sequencing of MYH7 only explains 6% of its genetic basis. More of the candidate genes need to be screened through advanced techniques like next generation sequencing to identify the causal genes which could make us understand the mechanistic pathways.

  19. Depression and infrequent participation in social activities among older adults: the moderating role of high-quality familial ties.

    Science.gov (United States)

    Holtfreter, Kristy; Reisig, Michael D; Turanovic, Jillian J

    2017-04-01

    The primary objective of this study is to investigate whether depression is associated with reduced participation in social activities among older adults. Additionally, this study assesses whether high-quality familial ties diminish the negative association between depression and social activities. Using cross-sectional telephone interview data from a sample of individuals 60 years of age and older in Arizona and Florida (N = 2000), this study estimates a series of linear regression models to assess the relationship between depression and social activities, and test whether this association is conditioned by high-quality familial ties using multiplicative interaction terms. As expected, an inverse relationship between depression and social activities is observed. Delving deeper, the regression models reveal that the depression-inactivity association is weaker among older individuals with strong, positive ties to spouses and children. Additional tests demonstrate the mere of existence of familial bonds provides no meaningful benefit - the quality of such ties matters. Findings support the theoretical argument that high-quality familial ties provide supportive coping resources that buffer individuals from the undesirable consequences associated with depression. Moving forward, longitudinal research on the causal links between depression and infrequent participation in social and leisure activities among older adults is warranted.

  20. A method to calculate sediment fluxes from infrequent data: application to 65 rivers of the French river quality database

    Science.gov (United States)

    Delmas, Magalie; Cerdan, Olivier; Coynel, Alexandra; Mouchel, Jean Marie; Cheviron, Bruno

    2010-05-01

    Improving knowledge of sediment exports represents one major challenge for environmental sciences considering their role in geochemical cycles and their link with Earth's surface processes. Because suspended sediment (SS) fluxes in rivers reflect the integration of combined erosion, transport and deposition processes that occur within the drained area, their calculation is thus essential in surface processes studies. Suspended sediment fluxes are estimated from discharge measurements and SS concentrations, either by averaging methods or by predicting sediment concentration values from continuous discharge data. In the latter case, a power function (or power law relation) is often defined between the observed SS concentrations and the corresponding discharge data. However it seems unrealistic to consider a single relation between SS concentrations and river discharges. The reason is that sediment production processes are not homogeneous in time, showing local and seasonal effects for example in agricultural areas where land cover varies inside a year or in mountainous regions where snow melting has a strong influence. Moreover, these processes are also spatially heterogeneous, due to spatial patterns in landscape characteristics, meteorological phenomena and geomorphology. In addition, important gaps persist when calculating SS fluxes, mainly due to SS measurements are not always carried out with high frequency. Based on 65 river basins in France, with various sizes, geomorphologies and land uses, this study aims at testing methods for an estimation of annual sediment loads, based on infrequent SPM concentration data spanning over several decades.

  1. Short seed longevity, variable germination conditions, and infrequent establishment events provide a narrow window for Yucca brevifolia (Agavaceae) recruitment

    Science.gov (United States)

    Bryant, M.; Reynolds, J.; DeFalco, Lesley A.; Esque, Todd C.

    2012-01-01

    PREMISE OF THE STUDY: The future of long-lived stand-forming desert plants such as Yucca brevifolia (Joshua tree) has come into question in light of climate variation and landscape-scale disturbances such as wildfire. Understanding plant establishment dynamics is important for mitigating the impacts of disturbances and promoting revegetation. • METHODS: We placed Y. brevifolia seeds in shallow caches and manipulated granivore access, nurse shrub effects, and the season of cache placement to determine conditions for seed germination and seedling establishment. • KEY RESULTS: Greatest seedling emergence occurred during spring and summer, when increased soil moisture was accompanied by warm soil temperatures. Late winter-spring emergence for cached seeds was enhanced beneath shrub canopies, but seedling survival declined beneath shrubs as temperatures increased in spring. Germinability of seed remaining in the soil was reduced from 50-68% after 12 mo residence time in soil and declined to plants, seeds are either removed by granivores or lose germinability, imposing substantial losses of potential germinants. • CONCLUSIONS: Specific germination and establishment requirements impose stringent limits on recruitment rates for Y. brevifolia. Coupled with infrequent seed availability, the return rates to prefire densities and demographic structure may require decades to centuries, especially in light of potential changes to regional desert climate in combination with the potential for fire recurrence. Demographic patterns are predicted to vary spatially in response to environmental variability that limits recruitment and may already be apparent among extant populations.

  2. A Brief Review of Infrequent Spontaneous Findings, Peculiar Anatomical Microscopic Features, and Potential Artifacts in Göttingen Minipigs.

    Science.gov (United States)

    McInnes, E F; McKeag, S

    2016-04-01

    Minipigs are now used in greater numbers in contract research organizations (CROs) as well as in the pharmaceutical industry. Most CROs or pharmaceutical companies use the Göttingen minipig, which displays a number of important background lesions. This review will discuss some of the more infrequent minipig background changes. Porcine stress syndrome is an autosomal recessive pharmacogenetic disorder in minipigs causing malignant hyperthermia and muscle necrosis. Possible triggers, clinical pathology as well as heart, muscle, liver, lung, and kidney histopathology are discussed. Additional spontaneous changes, background findings, and peculiar anatomical and histological features include thrombocytopenic purpura syndrome, spontaneous glomerulonephritis, osteochondritis, ellipsoids, or Schweigger-Seidel sheaths in the spleen, as well as the presence of a perimesenteric plexus adjacent to mesenteric lymph nodes, squamous epithelial metaplasia of the salivary gland, and cupping of the optic disk in the minipig eye. In order to maximize the data gained from minipig studies, the interpretation of pathology findings requires the input of experienced pathologists who understand the significance of artifacts and spontaneous, background lesions in minipigs and can distinguish these from induced lesions. © The Author(s) 2016.

  3. A lower body mass index is associated with cardiomyopathy in ...

    African Journals Online (AJOL)

    The cause of cardiomyopathy in patients infected with the human immunodeficiency virus (HIV) remains largely unknown, although a number of predisposing factors have been identified. Malnutrition has been postulated to be a contributory factor, but the association of anthropometric measures of nutritional status with ...

  4. Psychological Features of Takotsubo Cardiomyopathy: Report of Four Cases

    Directory of Open Access Journals (Sweden)

    Yaser Jenab

    2017-05-01

    Full Text Available Takotsubo or stress-induced cardiomyopathy is a cardiomyopathy in which the patient has a sudden onset, reversible left ventricular systolic dysfunction without any significant coronary artery disease. Four women, who were at a mean age of 64 years and suffered from chest pain exacerbated by emotional stress, were admitted as cases of acute coronary syndrome and were completely evaluated through precise history taking, physical examination, and ECG. Coronary angiography or coronary multidetector computed tomography was used to exclude significant coronary artery disease. In these patients with confirmed Takotsubo cardiomyopathy, in addition to the Diagnostic and Statistical Manual of the American Psychiatric Association (DSM-IV criteria, a 71-item form of the Minnesota Multiphasic Personality Inventory (MMPI-Mini-Mult-was employed for psychological assessment. The main common elevated scale was hypochondriasis. Individuals with high scores on this scale are obsessed with themselves, especially in regard to their body, and often use their disease symptoms in order to manipulate others. They are mainly passive aggressive, critical, and demanding, which stems from their lack of effective verbal abilities as a means of communication, specifically when it comes to anger or hostility expression. To the best of our knowledge, there is no available study evaluating patients with Takotsubo cardiomyopathy using the Mini-Mult questionnaire for psychological assessment.

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

    NARCIS (Netherlands)

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

    1993-01-01

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

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

    African Journals Online (AJOL)

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

  7. Peripartum Cardiomyopathy | Okeke | Annals of Medical and Health ...

    African Journals Online (AJOL)

    Peripartum cardiomyopathy (PPCM) is a rare form of unexplained cardiac failure of unknown origin, unique to the pregnant woman with highly variable outcome associated with high morbidity and mortality. PPCM is fraught with controversies in its definition, epidemiology, pathophysiology, diagnosis and management.

  8. Dual source computed tomography coronary angiography in new onset cardiomyopathy

    National Research Council Canada - National Science Library

    Monvadi B Srichai Mark Fisch Elizabeth Hecht James Babb Edward Rachofsky Allison G Hays James Slater Jill E Jacobs

    2012-01-01

    ... cardiomyopathyMonvadi B Srichai,Mark Fisch,Elizabeth Hecht,James Slate5 Edward Rachofsky,Allison G Hays,James Babb,】iI【E JacobsMonvadl B SHchai.]ames Babb.川l E Jacobs D~oariment...

  9. Inherited Cardiomyopathies : Genetics and Gene-Environment Interactions

    NARCIS (Netherlands)

    Spaendonck-Zwarts, Karin Yvon van

    2014-01-01

    In de laatste decennia zijn er belangrijke doorbraken geweest die hebben geleid tot het bekend worden van genetische factoren betrokken bij het ontstaan van erfelijke hartspierziekten (cardiomyopathieën). Dit is met name van belang voor naaste familieleden van patiënten met een hartspierziekte.

  10. 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.

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

    African Journals Online (AJOL)

    Recognition of the condition in our environment is often difficult because of dearth of facilities and expertise for echocardiograghy in most of our hospitals. Objective: To draw attention to the existence of hypertrophic cardiomyopathy in our environment and need to use echocardiography in evaluating patients with cardiac ...

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

    DEFF Research Database (Denmark)

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

    2011-01-01

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

  13. 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....

  14. 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...

  15. Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands

    NARCIS (Netherlands)

    Christiaans, I.; Nannenberg, E. A.; Dooijes, D.; Jongbloed, R. J. E.; Michels, M.; Postema, P. G.; Majoor-Krakauer, D.; van den Wijngaard, A.; Mannens, M. M. A. M.; van Tintelen, J. P.; van Langen, I. M.; Wilde, A. A. M.

    In this part of a series on cardiogenetic founder mutations in the Netherlands, we review the Dutch founder mutations in hypertrophic cardiomyopathy (HCM) patients. HCM is a common autosomal dominant genetic disease affecting at least one in 500 persons in the general population. Worldwide, most

  16. 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

    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,

  17. Selenium deficiency, reversible cardiomyopathy and short-term intravenous feeding.

    OpenAIRE

    Levy, J. B.; Jones, H. W.; Gordon, A. C.

    1994-01-01

    We report the case of a patient with Crohn's disease receiving short-term postoperative parenteral nutrition supplemented with trace elements who nevertheless became selenium deficient with evidence of a cardiomyopathy. This was fully reversible with oral selenium supplementation. Current parenteral feeding regimes may not contain enough selenium for malnourished patients.

  18. 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

  19. Clinical characteristics and risk factors for peripartum cardiomyopathy

    African Journals Online (AJOL)

    Background: Peripartum cardiomyopathy (PPCM) is a potentially fatal form of heart failure and the recognition of its risk factors is important for prevention and treatment. Objective: To explore the clinical characteristics and the risk factors for PPCM. Methods: Echocardiographic was used to examine the left ventricular ...

  20. Ischemic cardiomyopathy revealed by central retinal artery occlusion ...

    African Journals Online (AJOL)

    Here we report a case of central retinal artery occlusionrevealing an ischemic cardiomyopathy. A 54-year old smoker man presented at the hospital because of sudden visual loss in his left eye. There was cherry-red spot in the macula in his left eye. We performed a fluorescein angiogram and cervical color Doppler.

  1. Dystrophic Cardiomyopathy: Complex Pathobiological Processes to Generate Clinical Phenotype

    Directory of Open Access Journals (Sweden)

    Takeshi Tsuda

    2017-09-01

    Full Text Available Duchenne muscular dystrophy (DMD, Becker muscular dystrophy (BMD, and X-linked dilated cardiomyopathy (XL-DCM consist of a unique clinical entity, the dystrophinopathies, which are due to variable mutations in the dystrophin gene. Dilated cardiomyopathy (DCM is a common complication of dystrophinopathies, but the onset, progression, and severity of heart disease differ among these subgroups. Extensive molecular genetic studies have been conducted to assess genotype-phenotype correlation in DMD, BMD, and XL-DCM to understand the underlying mechanisms of these diseases, but the results are not always conclusive, suggesting the involvement of complex multi-layers of pathological processes that generate the final clinical phenotype. Dystrophin protein is a part of dystrophin-glycoprotein complex (DGC that is localized in skeletal muscles, myocardium, smooth muscles, and neuronal tissues. Diversity of cardiac phenotype in dystrophinopathies suggests multiple layers of pathogenetic mechanisms in forming dystrophic cardiomyopathy. In this review article, we review the complex molecular interactions involving the pathogenesis of dystrophic cardiomyopathy, including primary gene mutations and loss of structural integrity, secondary cellular responses, and certain epigenetic and other factors that modulate gene expressions. Involvement of epigenetic gene regulation appears to lead to specific cardiac phenotypes in dystrophic hearts.

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

    DEFF Research Database (Denmark)

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

    2018-01-01

    Background: Symmetric dimethylarginine (SDMA) has been increasingly used as a marker of early chronic kidney disease (CKD) in cats, but little is known about the influence of comorbidities on SDMA in this species. Hypothesis: Hypertrophic cardiomyopathy (HCM) and diabetes mellitus (DM), independe...

  3. Peripheral vascular structure and function in hypertrophic cardiomyopathy

    NARCIS (Netherlands)

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

    2012-01-01

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

  4. Molecular genetics of dilated cardiomyopathy in the Dobermann dog

    NARCIS (Netherlands)

    Stabej, Polona

    2005-01-01

    Canine dilated cardiomyopathy (DCM) is a disease of the myocardium associated with dilatation and impaired contraction of the ventricles. It primarily affects large and giant breed dogs with Dobermanns being one of the most frequently affected. The high prevalence of DCM in specific breeds suggests

  5. Pheochromocytoma and stress cardiomyopathy: Insight into pathogenesis.

    Science.gov (United States)

    Agrawal, Sahil; Shirani, Jamshid; Garg, Lohit; Singh, Amitoj; Longo, Santo; Longo, Angelita; Fegley, Mark; Stone, Lauren; Razavi, Muhammad; Radoianu, Nicoleta; Nanda, Sudip

    2017-03-26

    To investigate the occurrence of cardiomyopathy (CMP) in a cohort of patients with histologically proven pheochromocytoma (pheo), and to determine if catecholamine excess was causative of the left ventricular (LV) dysfunction. A retrospective chart review spanning years 1998 through 2014 was undertaken and patients with a diagnosis of pheo confirmed with histopathologic examination were included. Presenting electrocardiograms and cardiac imaging studies were reviewed. Transthoracic echocardiography (TTE), ventriculography or single positron emission computed tomography imaging was evaluated and if significant abnormalities [left ventricular hypertrophy (LVH) or LV dysfunction] were noted in the pre operative period a follow up post-operative study was also analyzed. Multivariate analysis using logistic regression was used to investigate independent predictors for outcomes of interest, LV dysfunction and LVH. We identified 18 patients with diagnosis of pheo confirmed on pathology. Mean age was 54.3 ± 19.3 years and 11 (61.1%) patients were females. 50% of such patients had either resistant hypertension or labile blood pressures during hospitalization, which had raised suspicion for a pheo. Cardiac imaging studies were available for 12 (66.7%) patients at the time of inclusion into study and preceding the adrenalectomy. 7 (58.3%) patients with a TTE available for review had mild or more severe LVH while 3 (25%) patients had LV dysfunction of presumably acute onset. In a multivariate analysis, elevated catecholamine levels as assessed by urinary excretion of metabolites was not an independent predictor of development of LV systolic dysfunction or of presence of LVH on TTE. Two female patients with a preceding history of hypertension had marked LV hypertrophy and systolic anterior motion of the mitral valve. Prolongation of the QTc interval was noted in 5 (27.8%) patients but no acute arrhythmias were observed in any patient. This study adds to the growing body of

  6. Alcoholic cardiomyopathy : The result of dosage and individual predisposition.

    Science.gov (United States)

    Maisch, B

    2016-09-01

    The individual amount of alcohol consumed acutely or chronically decides on harm or benefit to a person's health. Available data suggest that one to two drinks in men and one drink in women will benefit the cardiovascular system over time, one drink being 17.6 ml 100 % alcohol. Moderate drinking can reduce the incidence and mortality of coronary artery disease, heart failure, diabetes, ischemic and hemorrhagic stroke. More than this amount can lead to alcoholic cardiomyopathy, which is defined as alcohol toxicity to the heart muscle itself by ethanol and its metabolites. Historical examples of interest are the Munich beer heart and the Tübingen wine heart. Associated with chronic alcohol abuse but having different etiologies are beriberi heart disease (vitamin B1 deficiency) and cardiac cirrhosis as hyperdynamic cardiomyopathies, arsenic poising in the Manchester beer epidemic, and cobalt intoxication in Quebec beer drinker's disease. Chronic heavy alcohol abuse will also increase blood pressure and cause a downregulation of the immune system that could lead to increased susceptibility to infections, which in turn could add to the development of heart failure. Myocardial tissue analysis resembles idiopathic cardiomyopathy or chronic myocarditis. In the diagnostic work-up of alcoholic cardiomyopathy, the confirmation of alcohol abuse by carbohydrate deficient transferrin (CDT) and increased liver enzymes, and the involvement of the heart by markers of heart failure (e.g., NT-proBNP) and of necrosis (e.g., troponins or CKMb) is mandatory. Treatment of alcoholic cardiomyopathy consists of alcohol abstinence and heart failure medication.

  7. Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice

    DEFF Research Database (Denmark)

    Pinto, Yigal M; Elliott, Perry M; Arbustini, Eloisa

    2016-01-01

    In this paper the Working Group on Myocardial and Pericardial Disease proposes a revised definition of dilated cardiomyopathy (DCM) in an attempt to bridge the gap between our recent understanding of the disease spectrum and its clinical presentation in relatives, which is key for early diagnosis...

  8. 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.

  9. 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.)

  10. Frequency and clinical genetics of familial dilated cardiomyopathy in Cape Town: implications for the evaluation of patients with unexplained cardiomyopathy.

    Science.gov (United States)

    Ntusi, Ntobeko B A; Wonkam, Ambroise; Shaboodien, Gasnat; Badri, Motasim; Mayosi, Bongani M

    2011-05-25

    Studies from Europe and North America suggest that 20 - 50% of patients with dilated cardiomyopathy (DCM) may have familial disease. There is little information on the frequency and clinical genetics of familial DCM in Africa. To determine the frequency and probable mode of inheritance of familial DCM in patients referred for investigation of the cause of DCM at a tertiary centre in Cape Town. We conducted a retrospective analysis of consecutive patients diagnosed with DCM between 1 February 1996 and 31 December 2009 to determine the frequency of familial disease. Of 109 unrelated patients with DCM, 29 (26.6%) had familial disease. Their mean age of onset of cardiomyopathy (28.01 (standard deviation (SD) 15.33) years) was significantly younger than that for non-familial cases (39.1 (SD 12.6) years) (p=0.001). Male predominance (N=21, 72.4%) and racial distribution (15 (48.3%) coloured patients, 10 (34.5%) black Africans, 4 (13.8%) white individuals, and 1 (3.4%) of Indian descent) of familial DCM probands were similar to the non-familial cases. Of the 29 patients with familial DCM, 2 (7%) had at least one relative diagnosed with peripartum cardiomyopathy. Pedigree analysis of the 29 families was consistent with autosomal dominant inheritance in 72.4%, autosomal recessive inheritance in 17.2% and X-linked recessive inheritance in 10.4%. Familial DCM affects at least a quarter of African patients with DCM, presents at a young age, is associated with peripartum cardiomyopathy, and follows an autosomal dominant pattern of inheritance in the majority of families. Family screening for familial DCM is indicated in all cases of unexplained DCM, including patients with peripartum cardiomyopathy.

  11. Acceptability and ease of use of mailed HPV self-collection among infrequently screened women in North Carolina.

    Science.gov (United States)

    Anderson, Chelsea; Breithaupt, Lindsay; Des Marais, Andrea; Rastas, Charlotte; Richman, Alice; Barclay, Lynn; Brewer, Noel T; Smith, Jennifer S

    2017-09-02

    Self-collection of cervico-vaginal samples for human papillomavirus (HPV) testing has the potential to make cervical cancer screening more accessible to underscreened women. We evaluated the acceptability and ease of use of home-based HPV self-collection within a diverse population of low-income, infrequently screened women. Participants were low-income women from North Carolina who had not received Pap testing in 4 or more years. Eligible women received a self-collection kit containing instructions and a brush for home-based sample collection. A total of 227 women returned a self-collected sample by mail and completed a questionnaire to assess their experiences with HPV self-collection. We described acceptability measures and used logistic regression to identify predictors of overall positive thoughts about the self-collection experience. Nearly all women were willing to perform HPV self-collection again (98%) and were comfortable receiving the self-collection kit in the mail (99%). Overall, 81% of participants reported positive thoughts about home-based self-collection. Women with at least some college education and those who were divorced, separated or widowed were more likely to report overall positive thoughts. Aspects of self-collection that participants most commonly reported liking included convenience (53%), ease of use (32%) and privacy (23%). The most frequently reported difficulties included uncertainty that the self-collection was done correctly (16%) and difficulty inserting the self-collection brush (16%). Home-based self-collection for HPV was a highly acceptable screening method among low-income, underscreened women and holds the promise to increase access to cervical cancer screening in this high-risk population. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  12. 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.

  13. The conundrum of ventricular arrhythmia and cardiomyopathy: which abnormality came first?

    Science.gov (United States)

    Bhushan, Mishi; Asirvatham, Samuel J

    2009-03-01

    Ventricular arrhythmia and cardiomyopathy often coexist. Many patients with abnormal ventricular function have either documented premature ventricular contractions (PVCs) or nonsustained ventricular tachycardia and have an increased risk of sudden death from ventricular fibrillation. Tachycardia is a treatable cause of cardiomyopathy. The culprit arrhythmia may be atrial tachycardia, atrial fibrillation, or another supraventricular arrhythmia. The syndrome of PVCs giving rise to ventricular dysfunction was recently described. Thus, a conundrum exists for clinicians in determining which abnormality (PVCs or cardiomyopathy) came first and gave rise to the other. Solving this dilemma is important because radiofrequency ablation for frequent PVCs can completely reverse the cardiomyopathy and normalize systolic ventricular function. In this article, we describe the present evidence for the syndrome of PVCs that can be ablated as a cause for cardiomyopathy. We include a case example and discussion to illustrate this concept and provide a stepwise approach to determining whether PVCs cause cardiomyopathy or vice versa.

  14. Fatal arrhythmogenic right ventricular cardiomyopathy in 2 related subadult chimpanzees (Pan troglodytes).

    Science.gov (United States)

    Tong, L J; Flach, E J; Sheppard, M N; Pocknell, A; Banerjee, A A; Boswood, A; Bouts, T; Routh, A; Feltrer, Y

    2014-07-01

    Cardiovascular disease is increasingly recognized as an important cause of morbidity and mortality in captive chimpanzees (Pan troglodytes). This report records 2 cases of sudden cardiac death in closely related subadult captive chimpanzees with marked replacement fibrosis and adipocyte infiltration of the myocardium, which resemble specific atypical forms of the familial human disease arrhythmogenic right ventricular cardiomyopathy. Changes were consistent with left-dominant and biventricular subtypes, which are both phenotypic variants found within human families with familial arrhythmogenic right ventricular cardiomyopathy. Previously reported fibrosing cardiomyopathies in chimpanzees were characterized by nonspecific interstitial fibrosis, in contrast to the replacement fibrofatty infiltration with predilection for the outer myocardium seen in these 2 cases. To the authors' knowledge, this case report is the first to describe cardiomyopathy resembling arrhythmogenic right ventricular cardiomyopathy in nonhuman primates and the first to describe left-dominant arrhythmogenic cardiomyopathy-type lesions in an animal. © The Author(s) 2013.

  15. 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.

  16. Cardiomiopatía periparto Peripartum cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Jorge E Velásquez V

    2008-02-01

    Full Text Available La cardiomiopatía periparto es una entidad clínica con una frecuencia variable de acuerdo con la zona en estudio. Se caracteriza por disfunción sistólica del ventrículo izquierdo y posterior aparición de síntomas de falla cardiaca, los cuales ocurren durante el último mes de gestación y los primeros meses post- parto. Su etiología aún no es clara, pero se plantean diferentes teorías, las cuales se basan en fenómenos inflamatorios, infecciosos y auto-inmunes. Recientemente, se describieron alteraciones relacionadas con el estrés oxidativo, que podrían explicar en gran medida esta patología. Su presentación clínica guarda gran similitud con las demás causas de falla cardíaca, aunque se han descrito presentaciones atípicas. Su diagnóstico requiere alto nivel de sospecha y debe considerarse en toda mujer con síntomas de falla cardíaca durante el periparto. El tratamiento convencional de la falla cardiaca crónica que incluye beta-bloqueadores, inhibidores de la enzima convertidora de angiotensina y diuréticos, además de los adelantos en el diagnóstico y manejo de la falla cardiaca aguda, permitió cambiar la historia de la enfermedad al disminuir la mortalidad y recuperar la función sistólica del ventrículo izquierdo. Las gestaciones posteriores al desarrollo de esta entidad, dependerán de la recuperación completa de la función cardíaca, sin disminuir el riesgo de recurrencia. Todavía existen múltiples preguntas por responder en áreas como etiología, factores de riesgo, tratamiento y marcadores pronósticos que permitan prevenir y manejar en forma oportuna y segura tanto a la madre como a su hijo.Peripartum cardiomyopathy is a clinical entity with a variable frequency according to the zone of the study. It is characterized by a systolic dysfunction of the left ventricle and posterior appearance of heart failure symptoms that occur during the last month of pregnancy and the first post-partum months. Its etiology

  17. Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-up.

    Science.gov (United States)

    Arrizza, Chiara; De Gottardi, Andrea; Foglia, Ezio; Baumgartner, Matthias; Gautschi, Matthias; Nuoffer, Jean-Marc

    2015-12-01

    Cardiomyopathy is a frequent complication in propionic acidemia. It is mostly rapidly fatal and independent of the metabolic control or medical intervention. Here, we present the reversal of a severe cardiomyopathy after liver transplantation in a patient with propionic acidemia and the long-term stability after ten years. Liver transplantation in patients with propionic acidemia may be considered a valid and long-lasting treatment when cardiomyopathy is progressive and unresponsive to medical therapy. © 2015 Steunstichting ESOT.

  18. Clinical and genetic determinants of cardiomyopathy risk among hematopoietic cell transplantation survivors

    Science.gov (United States)

    Leger, Kasey J.; Cushing-Haugen, Kara; Hansen, John A.; Fan, Wenhong; Leisenring, Wendy M.; Martin, Paul J.; Zhao, Lue P.; Chow, Eric J.

    2016-01-01

    Cardiomyopathy has been recognized as a complication after hematopoietic cell transplantation (HCT). Using a nested case-cohort design, we examined the relationships between demographic, therapeutic, and selected cardiovascular disease risk factors among 1-year HCT survivors who developed cardiomyopathy before (n=43) or after (n=89) one year from HCT as compared to a randomly selected subcohort of survivors without cardiomyopathy (n=444). Genomic data were available for 79 cases and 267 non-cases. Clinical and genetic covariates were examined for association with the risk of early or late cardiomyopathy. Clinical risk factors associated with both early and late-onset cardiomyopathy included anthracycline exposure ≥250 mg/m2 and pre-existing hypertension. Among late-onset cardiomyopathy cases, the development of diabetes and ischemic heart disease further increased risk. We replicated several previously reported genetic associations among early-onset cardiomyopathy cases, including rs1786814 in CELF4, rs2232228 in HAS3, and rs17863783 in UGT1A6. None of these markers were associated with risk of late-onset cardiomyopathy. A combination of demographic, treatment, and clinical covariates predicted early-onset cardiomyopathy with reasonable accuracy (AUC 0.76, 95% CI 0.68–0.83), but prediction of late cardiomyopathy was poor (AUC 0.59, 95% CI 0.53–0.67). The addition of replicated genetic polymorphisms did not enhance prediction for either early or late-onset cardiomyopathy. Conventional cardiovascular risk factors influence the risk of both early and late-onset cardiomyopathy in HCT survivors. While certain genetic markers may influence the risk of early-onset disease, further work is required to validate previously reported findings and to determine how genetic information should be incorporated into clinically useful risk prediction models. PMID:26968791

  19. 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.

  20. Non-ischemic Cardiomyopathy Patients Derive Superior Mortality Benefit from Cardiac Resynchronization Therapy

    Directory of Open Access Journals (Sweden)

    Jonathan Rosman

    2007-10-01

    Full Text Available Background: Cardiac Resynchronization Therapy (CRT is indicated for the treatment of advanced heart failure with severe systolic dysfunction and intraventricular conduction delay. Patient selection for this technology is vital, though it remains unclear which patients benefit most from CRT. We tested the hypothesis that patients with non-ischemic cardiomyopathy have a superior mortality benefit from CRT than ischemic cardiomyopathy patients. Methods: We evaluated 95 CRT patients to determine which factors predict mortality.Results: Patients with non-ischemic cardiomyopathy had a significantly better prognosis than patients with ischemic cardiomyopathy.Conclusion: Larger prospective studies can substantiate this finding and better delineate which patients benefit most from CRT.

  1. ANP AFFECTS CARDIAC REMODELING, FUNCTION, HEART FAILURE AND SURVIVAL IN A MOUSE MODEL OF DILATED CARDIOMYOPATHY

    Science.gov (United States)

    Wang, Dong; Gladysheva, Inna P.; Fan, Tai-Hwang M.; Sullivan, Ryan; Houng, Aiilyan K.; Reed, Guy L.

    2014-01-01

    Dilated cardiomyopathy is a frequent cause of heart failure and death. Atrial natriuretic peptide (ANP) is a biomarker of dilated cardiomyopathy, but there is controversy whether ANP modulates the development of heart failure. Therefore we examined whether ANP affects heart failure, cardiac remodeling, function and survival in a well-characterized, transgenic model of dilated cardiomyopathy. Mice with dilated cardiomyopathy with normal ANP levels survived longer than mice with partial ANP (pANP deficiency (pANP protected against the development of heart failure as indicated by reduced lung water, alveolar congestion, pleural effusions etc. ANP improved systolic function and reduced cardiomegaly. Pathologic cardiac remodeling was diminished in mice with normal ANP as indicated by decreased ventricular interstitial and perivascular fibrosis. Mice with dilated cardiomyopathy and normal ANP levels had better systolic function (pANP-deficiency. Dilated cardiomyopathy was associated with diminished cardiac transcripts for natriuretic peptide receptors A and B in mice with normal ANP and ANP-deficiency but transcripts for natriuretic peptide receptor C and CNP were selectively altered in mice with dilated cardiomyopathy and ANP-deficiency. Taken together, these data indicate that ANP has potent effects in experimental dilated cardiomyopathy that reduce the development of heart failure, prevent pathologic remodeling, preserve systolic function and reduce mortality. Despite the apparent overlap in physiologic function between the natriuretic peptides, these data suggest that the role of ANP in dilated cardiomyopathy and heart failure is not compensated physiologically by other natriuretic peptides. PMID:24379183

  2. How a left-to-right shunt may protect against haemodynamic deterioration in restrictive cardiomyopathy.

    Science.gov (United States)

    Van Mieghem, Nicolas; Daenen, Wim; Budts, Werner

    2005-06-01

    Today, more and more children with complex heart lesions and underlying cardiomyopathies reach adulthood. This results in a wide range of new clinical problems encountered in later life. In particular, idiopathic restrictive cardiomyopathy is initially treated by medication to reduce symptoms, but at end-stage disease, heart or heart-lung transplantation becomes unavoidable. We describe the case of a patient with restrictive cardiomyopathy and a persistent extra-cardiac left-to-right shunt, where we hypothesize that the shunt may protect against haemodynamic deterioration in end-stage restrictive cardiomyopathie.

  3. Cardiotoxicity and cardiomyopathy in children and young adult survivors of hematopoietic stem cell transplant.

    Science.gov (United States)

    Rotz, Seth J; Ryan, Thomas D; Hlavaty, Joel; George, Stephen A; El-Bietar, Javier; Dandoy, Christopher E

    2017-11-01

    Cardiomyopathy is common in long-term survivors of pediatric hematopoietic stem cell transplant (HSCT). Events occurring before and after HSCT when combined with specific insults during HSCT likely contribute to long-term risk. Strategies for detecting subclinical cardiomyopathy prior to patients developing overt heart failure are under investigation. Changes in HSCT preparative regimens and cardioprotective medications administered during chemotherapy may alter the risk for cardiomyopathy. Interventions in long-term survivors such as lifestyle modification and cardioactive medications are of increasing importance. Herein we review the causes of cardiac injury, discuss strategies for detection of cardiomyopathy, and evaluate therapeutic options for long-term HSCT survivors. © 2017 Wiley Periodicals, Inc.

  4. Acute reversible cardiomyopathy and heart failure in a child with acute adrenal crisis.

    Science.gov (United States)

    Ödek, Çağlar; Kendirli, Tanıl; Kocaay, Pınar; Azapağası, Ebru; Uçar, Tayfun; Şıklar, Zeynep; Berberoğlu, Merih

    2017-05-01

    Acute adrenal crisis is a life-threatening disorder. Cardiovascular complications of the condition are usually limited to hypovolaemic hypotension and shock. An acute reversible cardiomyopathy and heart failure in association with acute adrenal crisis is rarely reported, particularly in children. A 6-year-old girl with adrenal crisis which was complicated by acute reversible cardiomyopathy is reported. Inotropic and ventilatory support in addition to intravenous hydrocortisone and furosemide therapy were required to achieve cardiovascular stability. The cardiomyopathy resolved over 5 days and she was discharged with normal cardiac and intellectual functions. Cardiomyopathy should be considered in patients with acute adrenal crisis demonstrating any symptoms or signs of heart failure.

  5. 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)

  6. 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.

  7. Restrictive Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy.

    Science.gov (United States)

    Muchtar, Eli; Blauwet, Lori A; Gertz, Morie A

    2017-09-15

    Restrictive cardiomyopathy (RCM) is characterized by nondilated left or right ventricle with diastolic dysfunction. The restrictive cardiomyopathies are a heterogenous group of myocardial diseases that vary according to pathogenesis, clinical presentation, diagnostic evaluation and criteria, treatment, and prognosis. In this review, an overview of RCMs will be presented followed by a detailed discussion on 3 major causes of RCM, for which tailored interventions are available: cardiac amyloidosis, cardiac sarcoidosis, and cardiac hemochromatosis. Each of these 3 RCMs is challenging to diagnose, and recognition of each disease entity is frequently delayed. Clinical clues to promote recognition of cardiac amyloidosis, cardiac sarcoidosis, and cardiac hemochromatosis and imaging techniques used to facilitate diagnosis are discussed. Disease-specific therapies are reviewed. Early recognition remains a key barrier to improving survival in all RCMs. © 2017 American Heart Association, Inc.

  8. Baking soda pica associated with rhabdomyolysis and cardiomyopathy in pregnancy.

    Science.gov (United States)

    Scolari Childress, Katherine M; Myles, Thomas

    2013-08-01

    Pica is a commonly underappreciated disorder in pregnancy that can lead to several complications, including severe metabolic derangements and other adverse outcomes. We report a case of baking soda pica in pregnancy associated with both rhabdomyolysis and cardiomyopathy. A multigravid woman at 37 weeks of gestation presented with weakness and severe hypokalemia. She subsequently had development of rhabdomyolysis and presumed peripartum cardiomyopathy. After delivery, it was discovered that the patient had a long history of consumption of large quantities of baking soda. Her condition improved with cessation of the pica. Clinicians must have a high index of suspicion for pica in pregnancy because it can lead to complex diagnostic challenges and pregnancy complications. The diagnosis should be considered in a patient with unexplained metabolic abnormalities.

  9. 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.

  10. 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.

  11. Neurogenic cardiomyopathy in rabbits with experimentally induced rabies.

    Science.gov (United States)

    Kesdangsakonwut, S; Sunden, Y; Yamada, K; Nishizono, A; Sawa, H; Umemura, T

    2015-05-01

    Cardiomyopathies have been rarely described in rabbits. Here we report myocardial necrosis of the ventricular wall in rabbits with experimentally induced rabies. Myocardial lesions were found only in rabbits with brain lesions, and the severity of the cardiac lesions was proportional to that of the brain lesions. Neither the frequency nor the cumulative dose of anesthesia was related to the incidence or the severity of the myocardial lesions. The myocardial lesions were characterized by degeneration and/or necrosis of myocardial cells and were accompanied by contraction band necrosis, interstitial fibrosis, and infiltration of inflammatory cells. The brain lesions due to rabies virus infection were most prominent in the cerebral cortex, thalamus, hypothalamus, brainstem, and medulla. Rabies virus antigen was not found in the hearts of any rabbits. Based on these findings, the myocardial lesions were classified as neurogenic cardiomyopathy. © The Author(s) 2014.

  12. 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.

  13. Adherence to thresholds: overdiagnosis of left ventricular noncompaction cardiomyopathy.

    Science.gov (United States)

    Kini, Vinay; Ferrari, Victor A; Han, Yuchi; Jha, Saurabh

    2015-08-01

    Thresholds derived from quantification in imaging are increasingly used to define disease. This derivation is not an exact science. When one uses a threshold to define a disease, one does not clearly demarcate disease from normality because the threshold includes overlapping spectra of mild disease and normality. Thus, use of the threshold will mislabel normal individuals with disease. In this perspective, we will describe how the threshold has been derived for left ventricular noncompaction cardiomyopathy, the statistical biases in the design of studies used to derive the threshold, and the dangers of overdiagnosis when the threshold is used to rule out left ventricular noncompaction cardiomyopathy. Copyright © 2015 AUR. Published by Elsevier Inc. All rights reserved.

  14. Differences in Presentation and Outcomes Between Children With Familial Dilated Cardiomyopathy and Children With Idiopathic Dilated Cardiomyopathy: A Report From the Pediatric Cardiomyopathy Registry Study Group.

    Science.gov (United States)

    Rusconi, Paolo; Wilkinson, James D; Sleeper, Lynn A; Lu, Minmin; Cox, Gerald F; Towbin, Jeffrey A; Colan, Steven D; Webber, Steven A; Canter, Charles E; Ware, Stephanie M; Hsu, Daphne T; Chung, Wendy K; Jefferies, John L; Cordero, Christina; Lipshultz, Steven E

    2017-02-01

    Research comparing the survival of children with familial dilated cardiomyopathy (FDCM) to that of children with idiopathic dilated cardiomyopathy (IDCM) has produced conflicting results. We analyzed data from children with FDCM or IDCM using the National Heart, Lung, and Blood Institute-funded Pediatric Cardiomyopathy Registry. Compared to children with IDCM (n=647), children with FDCM (n=223) were older (mean 6.2 versus 4.5 years, P<0.001), less often had heart failure (64% versus 78%, P<0.001), had less-depressed mean left ventricular fractional shortening z scores (-7.85±3.98 versus -9.06±3.89, P<0.001) and lower end-diastolic dimension z scores (4.12±2.61 versus 4.91±2.57, P<0.001) at diagnosis. The cumulative incidence of death was lower for patients with FDCM compared with IDCM (P=0.04; hazard ratio 0.64, P=0.06), but no difference in risk of transplant or the combined death or transplant outcome. There was no difference in the proportion of children with echocardiographic normalization at 3 years of follow-up (FDCM, 30% versus IDCM, 26%; P=0.33). Multivariable analysis showed no difference in outcomes between FDCM and IDCM but for both groups older age, congestive heart failure, and increased left ventricular end-systolic dimension zscore at diagnosis were independently associated with an increased risk of death or heart transplantation (all Ps<0.001). There was no survival difference between FDCM and IDCM after adjustment for other factors. Older age, congestive heart failure, and greater left ventricular dilation at diagnosis were independently associated with increased risk of the combined end point of death or transplantation. URL: https://clinicaltrials.gov. Unique identifier: NCT00005391. © 2017 American Heart Association, Inc.

  15. CARDIOMYOPATHIE DU POSTPARTUM: A propos de cinq cas au ...

    African Journals Online (AJOL)

    Le traitement comportait, outre le repos au lit, la restriction hydrosodée, un digitalique, un diurétique et un inhibiteur de l'enzyme de conversion. Trois des patients ont guéri et chez deux persistait une altération échocardiographique de la fonction ventriculaire gauche. Les principaux problèmes posés par la cardiomyopathie ...

  16. Embolic stroke in a child with idiopathic dilated cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    Karande S

    1996-07-01

    Full Text Available An eleven year old boy presented with sudden onset right-sided hemiplegia and ipsilateral lower facial weakness. Two-dimensional echo revealed the diagnosis of idiopathic dilated cardiomyopathy with multiple intracardiac clots. MRI scan of head showed infarctions in the area of caudate nuclei, putamen, brain stem and cerebellum. On anticoagulation therapy, all thrombi, except one, disappeared. The child died 2.5 months later due to resistant cardiac failure.

  17. Cardiac Remodelling and Fibrosis in Cardiomyopathy: Role of Galectin-3

    OpenAIRE

    MY-NHAN NGUYEN

    2018-01-01

    This thesis provides a comprehensive investigation on the contribution of heart scarring, known as cardiac fibrosis, to remodelling and impaired function of the heart. It highlights a relationship between the presence of cardiac fibrosis and severity of irregular heartbeats, and demonstrated the complex role of a molecule called ‘galectin-3’ in the pathogenesis of fibrosis and remodelling in cardiomyopathy. The thesis provides new mechanisms for elevation of galectin-3 blood levels that is in...

  18. Cardiomyopathy in Congenital and Acquired Generalized Lipodystrophy: A Clinical Assessment

    OpenAIRE

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

    2010-01-01

    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 finding...

  19. Takotsubo cardiomyopathy associated with Miller-Fisher syndrome.

    Science.gov (United States)

    Gill, Dalvir; Liu, Kan

    2017-07-01

    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. Published by Elsevier Inc.

  20. Clinicopathological profiles of progressive heart failure in hypertrophic cardiomyopathy

    OpenAIRE

    Melacini, Paola; Basso, Cristina; Angelini, Annalisa; Calore, Chiara; Bobbo, Fabiana; Tokajuk, Barbara; Bellini, Nicoletta; Smaniotto, Gessica; Zucchetto, Mauro; Iliceto, Sabino; Thiene, Gaetano; Maron, Barry J.

    2010-01-01

    Aims Hypertrophic cardiomyopathy (HCM) is an important cause of heart failure-related disability over a wide range of ages. Profiles of severe progressive heart failure symptoms and death, or heart transplantation deserve more complete definition within large patient cohorts. Methods and results Clinical and morphological features of heart failure were assessed in 293 consecutive HCM patients over a median follow-up of 6 (inter-quartile range 2?11) years. Gross and histopathological features ...

  1. The role of obesity in cardiomyopathy and nephropathy.

    Science.gov (United States)

    Tiwari, Shuchita; Ndisang, Joseph Fomusi

    2014-01-01

    The growing incidence of obesity and related complications such as cardiomyopathy and nephropathy remains a global health challenge. Many pathophysiological factors including inflammation, oxidative stress and endothelial dysfunction are implicated in obesity- induced abnormalities in the heart and kidney. Moreover, obesity and nutrient-overload are associated with the activation of different inflammatory/oxidative signaling pathways such as endoplasmic reticulum stress, nuclear factor-kappaB (NF-κB), toll-like-receptor-4 (TLR4) and the renin-angiotensin-aldosterone system (RAAS). The pathophysiological role of RAAS, TLR4 and NF-κB in perturbing physiological milieu is well acknowledged. Several pharmacological agents have been formulated to target one or more of these pathways. Although significant strides have been made in elucidating mechanisms implicated in obesity-related cardio-renal diseases, much still has to be done. The pathophysiology of cardiomyopathy and nephropathy is complex and multifaceted. Besides NF-κ B, TLR4, RAAS and inflammatory mediators such as cytokines and chemokines, a wide spectrum of different factors including, the environment, diets, lifestyles, genetics and epigenetics are also involved. With such multifactorial etiology, it remains a daunting challenge to identify the factor(s) that initiate the activation and propagation of adverse stimuli that eventually lead to cardiomyopathy and/or nephropathy in obese individuals. Similarly, the mechanisms of such activation and propagation should be clearly elucidated. Should these hurdles be overcome, there would be a greater likelihood for the development of more-effective therapeutic strategies for the prevention, treatment and management of obesity-induced cardiomyopathy and nephropathy. The present review examines the role of inflammation, oxidative stress and endothelial dysfunction in obesity-induced abnormalities in heart and kidney.

  2. Case Report - Cardiomyopathie hypertrophique néonatale de ...

    African Journals Online (AJOL)

    La cardiomyopathie hypertrophique néonatale est une entité rare, hétérogène regroupant plusieurs formes cliniques et donc de diagnostic étiologique difficile. Nous rapportons l'observation d'un nouveau né issu d'une grossesse gémellaire, ayant présenté à la naissance un tableau d'insuffisance cardiaque, ...

  3. Takotsubo Cardiomyopathy in the Setting of Tension Pneumothorax

    Science.gov (United States)

    Gale, Michael; Mirrer, Brooks; Mallet, Thierry; Salciccioli, Louis; Petrie, Alison; Cohen, Ronny

    2015-01-01

    Background. Takotsubo cardiomyopathy is defined as a transient left ventricular dysfunction, usually accompanied by electrocardiographic changes. The literature documents only two other cases of Takotsubo cardiomyopathy in the latter setting. Methods. A 78-year-old female presented to the ED with severe shortness of breath, hypertension, and tachycardia. On physical exam, heart sounds (S1 and S2) were regular and wheezing was noticed bilaterally. We found laboratory results with a WBC of 20.0 (103/μL), troponin of 16.52 ng/mL, CK-mb of 70.6%, and BNP of 177 pg/mL. The patient was intubated for acute hypoxemic respiratory failure. A chest X-ray revealed a large left-sided tension pneumothorax. Initial echocardiogram showed apical ballooning with a LVEF of 10–15%. A cardiac angiography revealed normal coronary arteries with no coronary disease. After supportive treatment, the patient's condition improved with a subsequent echocardiogram showing a LVEF of 60%. Conclusion. The patient was found to have Takotsubo cardiomyopathy in the setting of a tension pneumothorax. The exact mechanisms of ventricular dysfunction have not been clarified. However, multivessel coronary spasm or catecholamine cardiotoxicity has been suggested to have a causative role. We suggest that, in our patient, left ventricular dysfunction was induced by the latter mechanism related to the stress associated with acute pneumothorax. PMID:26366307

  4. Unusual Presentation of Propionic Acidemia as Isolated Cardiomyopathy

    Science.gov (United States)

    Lee, T. M.; Addonizio, L. J.; Barshop, B. A.; Chung, W. K.

    2013-01-01

    Summary Propionic acidemia (PA) is an autosomal recessive disease that results from deficiency of propionyl-CoA carboxylase (PCC). In virtually all reported cases of PA, the phenotype includes metabolic acidosis and/or neurological deficits. We report on a 14-year-old Asian male with PA who presented with isolated cardiomyopathy without any episodes of metabolic acidosis or evidence of any neurocognitive deficits. On routine metabolic screening, the patient was found to have urine organic acids suggestive of PA. Biochemical and genetic characterization confirmed a PCC deficiency with two novel mutations in PCCB: IVS7+2 T>G (c.763+2 T>G) and p.R410Q (c.1229 G>A). Residual enzyme activity likely explains our patient’s mild phenotype. Splicing mutations tend to result in a milder phenotype as these mutations may still produce small amounts of normal enzyme. In addition, the similar p.R410W mutation has been shown to have partial residual activity. Moreover, this case illustrates the important but under-recognized manifestation of isolated cardiomyopathy as the sole clinical presentation in PA. A thorough metabolic evaluation should be performed in all pediatric patients with cardiomyopathy. Such an evaluation has important implications for clinical management and genetic counseling. PMID:19238581

  5. 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.

  6. 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.

  7. 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. Copyright © 2015 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

  8. Arrhythmia occurrence with takotsubo cardiomyopathy: a literature review.

    Science.gov (United States)

    Syed, Faisal F; Asirvatham, Samuel J; Francis, Johnson

    2011-06-01

    Takotsubo cardiomyopathy (TC) or the apical ballooning syndrome is a reversible cardiomyopathy mimicking acute myocardial infarction (AMI). Although malignant arrhythmia is considered less likely to occur in TC than with AMI, sporadic reports of malignant arrhythmia with TC, however, have been reported. We reviewed the medical literature on TC and arrhythmias and describe in the summary the reported findings and discuss possible specific scenarios where arrhythmia may be more likely in patients with TC. Articles were identified on PubMed using the MeSH terms 'Takotsubo Cardiomyopathy' or 'Apical Ballooning Syndrome'. Seventy-four unique case series with five or more TC patients were identified, with a cumulative total of 1876 cases. Twelve series (242 cases) were excluded because Mayo criteria were not met. Twenty-five series (816 cases, 43.5%) reported on arrhythmia and were included in the analysis. Areas for further prospective study include the duration and mechanism of residual risk and optimal risk stratification and modification. The current state of evidence would support beta-blockers in the acute setting to control tachyarrhythmia, although there is little evidence to support their use beyond convalescence when used for this indication alone. Those in heart failure and cardiogenic shock should be managed with established evidence-based therapies for these conditions. The use of internal defibrillators in TC requires consideration only on a case-by-case basis.

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

    Directory of Open Access Journals (Sweden)

    Alicia I Hidron

    2010-05-01

    Full Text Available Patients with Chagas disease have migrated to cities, where obesity, hypertension and other cardiac risk factors are common.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.

  10. Takotsubo Cardiomyopathy in the Setting of Tension Pneumothorax

    Directory of Open Access Journals (Sweden)

    Michael Gale

    2015-01-01

    Full Text Available Background. Takotsubo cardiomyopathy is defined as a transient left ventricular dysfunction, usually accompanied by electrocardiographic changes. The literature documents only two other cases of Takotsubo cardiomyopathy in the latter setting. Methods. A 78-year-old female presented to the ED with severe shortness of breath, hypertension, and tachycardia. On physical exam, heart sounds (S1 and S2 were regular and wheezing was noticed bilaterally. We found laboratory results with a WBC of 20.0 (103/μL, troponin of 16.52 ng/mL, CK-mb of 70.6%, and BNP of 177 pg/mL. The patient was intubated for acute hypoxemic respiratory failure. A chest X-ray revealed a large left-sided tension pneumothorax. Initial echocardiogram showed apical ballooning with a LVEF of 10–15%. A cardiac angiography revealed normal coronary arteries with no coronary disease. After supportive treatment, the patient’s condition improved with a subsequent echocardiogram showing a LVEF of 60%. Conclusion. The patient was found to have Takotsubo cardiomyopathy in the setting of a tension pneumothorax. The exact mechanisms of ventricular dysfunction have not been clarified. However, multivessel coronary spasm or catecholamine cardiotoxicity has been suggested to have a causative role. We suggest that, in our patient, left ventricular dysfunction was induced by the latter mechanism related to the stress associated with acute pneumothorax.

  11. Arrhythmogenic right ventricular cardiomyopathy in a dog : case report

    Directory of Open Access Journals (Sweden)

    A.J. Möhr

    2000-07-01

    Full Text Available An 8-month-old Labrador retriever bitch was evaluated for sudden-onset, progressive abdominal distension. Physical examination revealed an exaggerated inspiratory effort, severe ascites, bilateral jugular vein distension, and hypokinetic femoral arterial pulses. Thoracic auscultation detected tachycardia with muffled heart sounds, without audible cardiac murmurs. Thoracic radiographs identified severe right ventricular enlargement and pleural effusion. The electrocardiogram was consistent with incomplete right bundle branch block or right ventricular enlargement. Echocardiography demonstrated severe right ventricular and atrial dilation, secondary tricuspid regurgitation, and thinning and hypocontractility of the right ventricular myocardium. Left heart chamber sizes were slightly decreased, with normal left ventricular contractility. Adiagnosis of arrhythmogenic right ventricular cardiomyopathy was reached, based on the characteristic clinical, electrocardiographic, radiographic and echocardiographic findings, and the exclusion of other causes of isolated right ventricular failure. Treatment effected good control of clinical signs, until acutely decompensated congestive right heart failure led to euthanasia after 4 months. Arrhythmogenic right ventricular cardiomyopathy is a well-described clinical entity in humans, and has previously been documented in 3 male dogs. The condition is characterised by progressive fibro-adipose replacement of right ventricular myocardium, while the left ventricle usually remains unaffected. It should be considered a differential diagnosis in any young dog presented with isolated right heart failure, syncope, or unexplained ventricular tachyarrhythmias. This article reports the 1st case of arrhythmogenic right ventricular cardiomyopathy in a female dog, and highlights its echocardiographic features.

  12. 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.)

  13. 5. Incidence of herceptin induced cardiomyopathy in treated breast cancer patients: A prospective single center study in Saudi Arabia

    Directory of Open Access Journals (Sweden)

    Abdelrahman Jamiel

    2017-10-01

    Our study showed low incidence rate of cardiomyopathy toxicity due to Herceptin therapy in Saudi individuals. However, the rate of cardiomyopathy differs by the criteria used as well as the imaging modality used to assess LV function.

  14. [Cardiotropic DNA viruses and bacteria in the pathogenesis of dilated cardiomyopathy with or without inflammation].

    Science.gov (United States)

    Pankuweit, S; Hufnagel, G; Eckhardt, H; Herrmann, H; Uttecht, S; Maisch, B

    1998-04-15

    In the report of the 1995 WHO/ISFC task force on the definition and classification of cardiomyopathies a new entity within the dilated cardiomyopathies was introduced as "inflammatory cardiomyopathy". It is defined as myocarditis associated with cardiac dysfunction. Idiopathic, autoimmune and infectious forms of inflammatory cardiomyopathy are now recognized through this definition. Dilated cardiomyopathy with inflammation (DCMi, chronic myocarditis) was also defined by a recent ISFC task force as > 14 lymphocytes/macrophages/mm3. Enteroviruses, adenoviruses and cytomegaloviruses are considered as main etiopathogenetic factors in the pathogenesis of inflammatory heart disease and have been demonstrated as important trigger for inflammatory cardiac disease. They may also cause dilated cardiomyopathy by viral persistence or secondary immunopathogenesis due to antigenic or molecular mimicry. For the detection of viral persistence the investigation of endomyocardial biopsies in patients with cardiomyopathy by the use of polymerase chain reaction and southern blot analysis is an important step for the standardization of diagnostic criteria on virally induced inflammatory cardiomyopathy. Present studies indicate an incidence of cytomegalovirus-DNA in patients with inflammatory cardiomyopathy in 10%, adenoviral-DNA in 17% and borreliosis only in rare cases (cardiomyopathy without inflammation the respective incidences were for cytomegalovirus 12%, 15% for adenovirus and only 0.5% of cases for borreliosis. In addition the results of immunohistochemical analysis and molecular biological investigations of endomyocardial biopsies may have implications for future therapeutic studies. Depending on the etiology of the disease, immunosuppression may have benefit for patients with virus-negative cardiomyopathy with inflammation in contrast to patients with cytomegalo-, adenovirus-DNA or enteroviral persistence, in whom immunomodulation with hyperimmunoglobulins or immunoglobulins

  15. Pheochromocytoma as a reversible cause of cardiomyopathy: Analysis and review of the literature.

    Science.gov (United States)

    Zhang, Rong; Gupta, Deepashree; Albert, Stewart G

    2017-12-15

    Pheochromocytoma and paraganglioma are rare neuroendocrine tumors which overproduce catecholamines and arise from the adrenal gland or extra-adrenal chromaffin cells of the sympathetic and parasympathetic ganglia (1). Excessive catecholamine-induced stimulation of cardiac myocytes leads to damage which manifests in several forms ranging from Takotsubo to dilated cardiomyopathy. Diagnosis of pheochromocytoma-related cardiomyopathies is often delayed due to the atypical presentation associated with many cases. Limited data exists on the presentation and outcomes of the various forms of pheochromocytoma-induced cardiomyopathies. We performed a literature review to assess the association of pheochromocytoma and cardiomyopathy to aide in further understanding this clinical entity. 163 cases from 150 articles published between 1991 and November 2016 were included from a PubMed search. There were 163 occurrences of pheochromocytoma and cardiomyopathy (63 dilated cardiomyopathy, 38 Takotsubo cardiomyopathy, 30 inverted Takotsubo cardiomyopathy, 10 HOCM, 8 myocarditis, and 14 unspecified cardiomyopathy). Many patients lacked classic signs or symptoms of pheochromocytoma with hypertension as a presenting symptom in 65% and the triad of headache, palpitations, and diaphoresis only in 4%. Resection of the pheochromocytoma led to improvement of the cardiomyopathy in 96% while lack of resection was associated with death or cardiac transplantation in 44%. Pheochromocytoma should be considered in the evaluation of non-ischemic, non-valvular cardiomyopathy even in the absence of symptoms of catecholamine excess. Our study highlights the importance of early suspicion and diagnosis of pheochromocytoma in cases of idiopathic heart failure as early resection may prevent progression to irreversible myocardial remodeling and death. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

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

    Science.gov (United States)

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

    2017-03-03

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

  17. Risk stratification at the time of diagnosis for children with hypertrophic cardiomyopathy: a report from the Pediatric Cardiomyopathy Registry Study Group

    Science.gov (United States)

    Lipshultz, Steven E; Orav, E John; Wilkinson, James D; Towbin, Jeffrey A; Messere, Jane E; Lowe, April M; Sleeper, Lynn A; Cox, Gerald F; Hsu, Daphne T; Canter, Charles E; Hunter, Juanita A; Colan, Steven D

    2014-01-01

    Summary Background Treatment of children with hypertrophic cardiomyopathy might be improved if the risk of death or heart transplantation could be predicted by risk factors present at the time of diagnosis. Methods The Pediatric Cardiomyopathy Registry collected longitudinal data on 1085 children with hypertrophic cardiomyopathy from 1990 to 2006. The primary outcome was death or heart transplantation. Our goal is to understand how patient factors measured at the time of diagnosis will predict the subsequent risk of death or heart transplantation. The Kaplan-Meier method was used to calculate time-to-event rates from the time of diagnosis to the earlier of heart transplantation or death for children in each subgroup. Cox proportional-hazards regression was used to identify both univariable and multivariable predictors of death or heart transplantation within each aetiologic subgroup. Findings The poorest outcomes (death or transplant) were observed among children with inborn errors of metabolism, for whom the estimated rate of death or heart transplantation was 57% (95% CI: 45%, 69%) at 2 years. Children with mixed functional phenotypes also did poorly, with rates of death or heart transplantation of 45% (95% CI: 33%, 57%) at 2 years for children with mixed hypertrophic and dilated cardiomyopathy, and 38% (95% CI: 24%, 52%) at 2 years for children with mixed hypertrophic and restrictive cardiomyopathy. Excellent outcomes were observed among the 407 children who received a diagnosis of idiopathic hypertrophic cardiomyopathy at 1 year of age or older, with rates of death or heart transplantation of 3% (95% CI: 1%, 5·0%) at 2 years. The risk factors for poor outcomes varied according to hypertrophic cardiomyopathy subgroup, but they generally included age, weight, congestive heart failure, lower left ventricular (LV) fractional shortening, or higher LV end-diastolic posterior wall thickness or end-diastolic ventricular septal thickness at the time of cardiomyopathy

  18. 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)

  19. Cardiomyopathies with particular reference to the diagnostic relevance of endomyocardial biopsies

    NARCIS (Netherlands)

    Becker, A. E.

    1988-01-01

    A distinction is made between heart muscle diseases with a known cause, or occurring as part of a systemic disease, and those of unknown cause. The first category is termed "specific heart muscle disease". The term "cardiomyopathy" is then limited to the latter category. Cardiomyopathies are

  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. © 2016 Wiley Periodicals, Inc.

  1. Acute and Chronic Pheochromocytoma-Induced Cardiomyopathies: Different Prognoses?: A Systematic Analytical Review.

    Science.gov (United States)

    Batisse-Lignier, Marie; Pereira, Bruno; Motreff, Pascal; Pierrard, Romain; Burnot, Christelle; Vorilhon, Charles; Maqdasy, Salwan; Roche, Béatrice; Desbiez, Francoise; Clerfond, Guillaume; Citron, Bernard; Lusson, Jean-René; Tauveron, Igor; Eschalier, Romain

    2015-12-01

    Pheochromocytoma and paraganglioma (PPG) are rare and late-diagnosed catecholamine secreting tumors, which may be associated with unrecognized and/or severe cardiomyopathies. We performed a computer-assisted systematic search of the electronic Medline databases using the MESH terms "myocarditis," "myocardial infarction," "Takotsubo," "stress cardiomyopathy," "cardiogenic shock", or "dilated cardiomyopathy," and "pheochromocytoma" or "paraganglioma" from 1961 to August 2012. All detailed case reports of cardiomyopathy due to a PPG, without coronary stenosis, and revealed by acute symptoms were included and analyzed. A total of 145 cases reports were collected (49 Takotsubo Cardiomyopathies [TTC] and 96 other Catecholamine Cardiomyopathies [CC]). At initial presentation, prevalence of high blood pressure (87.7%), chest pain (49.0%), headaches (47.6%), palpitations (46.9%), sweating (39.3%), and shock (51.0%) were comparable between CC and TTC. Acute pulmonary edema (58.3% vs 38.8%, P = 0.03) was more frequent in CC. There was no difference in proportion of patients with severe left ventricular systolic dysfunction (LV Ejection Fraction [LVEF] cardiomyopathies with the same brutal and life-threatening initial clinical presentation but with a different recovery rate. Diagnosis of unexplained dilated cardiomyopathy or TTC should lead clinicians to a specific search for PPG.

  2. In regard to the question of macroscopic differential diagnosis of alcoholic and dilated cardiomyopathy

    Directory of Open Access Journals (Sweden)

    O. V. Sokolova

    2014-01-01

    Full Text Available The differential diagnosis of alcoholic and dilated cardiomyopathy according to the macroscopic data is represented in the article. The identity of macroscopic changes of heart, related to alcoholic and dilated cardiomyopathy, cannot diagnose these diseases based on the macroscopic characteristics; especially if there are no other visceral manifestations typical for chronic alcoholism.

  3. Non-compaction of the ventricular myocardium, a cardiomyopathy in search of a pathoanatomical definition

    OpenAIRE

    Val-Bernal, José Fernando; Garijo, M.F.; Rodriguez-Villar, Diana; Val, D.

    2010-01-01

    Ventricular non-compaction is a rare cardiomyopathy characterized by numerous, excessively prominent ventricular trabeculations and deep intertrabecular recesses communicating with the ventricular cavity. The lesion is postulated to result from an intrauterine developmental arrest that stops compaction of the myocardial fiber meshwork. This cardiomyopathy affects the left ventricle, with or without concomitant right ventricular involvement. The disease is now seen w...

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

    DEFF Research Database (Denmark)

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

    2011-01-01

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

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

    DEFF Research Database (Denmark)

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

    2016-01-01

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

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

    Directory of Open Access Journals (Sweden)

    M.V. Tural'chuk

    2011-01-01

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

  7. Clinical determinants of mortality in patients with angiographically diagnosed ischemic or nonischemic cardiomyopathy.

    Science.gov (United States)

    Bart, B A; Shaw, L K; McCants, C B; Fortin, D F; Lee, K L; Califf, R M; O'Connor, C M

    1997-10-01

    We sought to characterize the clinical determinants of mortality in patients with angiographically diagnosed ischemic or nonischemic cardiomyopathy. Patients with ischemic cardiomyopathy may have a worse prognosis than patients with nonischemic cardiomyopathy. Few studies have assessed the effect of ischemic versus nonischemic etiology on outcomes. We analyzed prospectively collected data on 3,787 patients with a left ventricular ejection fraction cardiomyopathy (n = 3,112) if they had a history of myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass graft surgery or at least one major epicardial coronary artery with > or = 75% stenosis; all others were considered to have nonischemic cardiomyopathy (n = 675). The median age, ejection fraction and proportion of patients with New York Heart Association functional class III or IV symptoms for the nonischemic and ischemic groups were 55 years versus 63 years, 27% versus 32% and 57% versus 25%, respectively. After adjustment for baseline clinical risk factors and presenting characteristics, ischemic etiology remained an important independent predictor of 5-year mortality (p disease was a better predictor of survival than ischemic or nonischemic etiology (log likelihood chi-square 700 vs. 675, respectively). Ischemic etiology is a significant independent predictor of mortality in patients with cardiomyopathy. However, the extent of coronary artery disease contributes more prognostic information than the clinical diagnosis of ischemic or nonischemic cardiomyopathy. Further research is needed to refine the clinical definition of ischemic cardiomyopathy so that physicians can appropriately prescribe treatment and accurately predict outcome.

  8. Rapid left ventricular recovery after cabergoline treatment in a patient with peripartum cardiomyopathy

    NARCIS (Netherlands)

    de Jong, Jonas S. S. G.; Rietveld, Kirsten; van Lochem, Laura T.; Bouma, Berto J.

    2009-01-01

    The aetiology of peripartum cardiomyopathy (PPCM) is still largely unknown. Recent evidence suggests that the breakdown products from prolactin can induce cardiomyopathy. Prolactin secretion can be reduced with bromocriptine which had beneficial effects in a small study. We present a case of a

  9. Arrhythmogenic cardiomyopathy in a patient with a rare loss-of-function KCNQ1 mutation.

    Science.gov (United States)

    Xiong, Qinmei; Cao, Qing; Zhou, Qiongqiong; Xie, Jinyan; Shen, Yang; Wan, Rong; Yu, Jianhua; Yan, Sujuan; Marian, Ali J; Hong, Kui

    2015-01-23

    Ventricular tachycardia (VT) is a common manifestation of advanced cardiomyopathies. In a subset of patients with dilated cardiomyopathy, VT is the initial and the cardinal manifestation of the disease. The molecular genetic basis of this subset of dilated cardiomyopathy is largely unknown. We identified 10 patients with dilated cardiomyopathy who presented with VT and sequenced 14 common causal genes for cardiomyopathies and arrhythmias. Functional studies included cellular patch clamp, confocal microscopy, and immunoblotting. We identified nonsynonymous variants in 4 patients, including a rare missense p.R397Q mutation in the KCNQ1 gene in a 60-year-old man who presented with incessant VT and had mild cardiac dysfunction. The p.R397Q mutation was absent in an ethnically matched control group, affected a conserved amino acid, and was predicted by multiple algorithms to be pathogenic. Co-expression of the mutant KCNQ1 with its partner unit KCNE1 was associated with reduced tail current density of slowly activating delayed rectifier K(+) current (IKs). The mutation reduced membrane localization of the protein. Dilated cardiomyopathy with an initial presentation of VT may be a forme fruste of arrhythmogenic cardiomyopathy caused by mutations in genes encoding the ion channels. The findings implicate KCNQ1 as a possible causal gene for arrhythmogenic cardiomyopathy. © 2015 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

  10. Cardiomyopathie du péripartum : à propos d'une observation et ...

    African Journals Online (AJOL)

    La cardiomyopathie du péripartum ou cardiomyopathie gravidique primitive, est une entité rare et méconnue définie comme une insuffisance cardiaque systolique survenant le dernier mois de la grossesse ou les cinq premiers mois du postpartum en l'absence d'étiologie connue ou de cardiopathie préexistante .

  11. Contemporary trends in the epidemiology and management of cardiomyopathy and pericarditis in sub‐Saharan Africa

    Science.gov (United States)

    Mayosi, Bongani M

    2007-01-01

    Heart failure in sub‐Saharan Africans is mainly due to non‐ischaemic causes, such as hypertension, rheumatic heart disease, cardiomyopathy and pericarditis. The two endemic diseases that are major contributors to the clinical syndrome of heart failure in Africa are cardiomyopathy and pericarditis. The major forms of endemic cardiomyopathy are idiopathic dilated cardiomyopathy, peripartum cardiomyopathy and endomyocardial fibrosis. Endomyocardial fibrosis, which affects children, has the worst prognosis. Other cardiomyopathies have similar epidemiological characteristics to those of other populations in the world. HIV infection is associated with occurrence of HIV‐associated cardiomyopathy in patients with advanced immunosuppression, and the rise in the incidence of tuberculous pericarditis. HIV‐associated tuberculous pericarditis is characterised by larger pericardial effusion, a greater frequency of myopericarditis, and a higher mortality than in people without AIDS. Population‐based studies on the epidemiology of heart failure, cardiomyopathy and pericarditis in Africans, and studies of new interventions to reduce mortality, particularly in endomyocardial fibrosis and tuberculous pericarditis, are needed. PMID:17890693

  12. The MOGE(S) classification for cardiomyopathies: current status and future outlook.

    Science.gov (United States)

    Westphal, Julian G; Rigopoulos, Angelos G; Bakogiannis, Constantinos; Ludwig, Sarah E; Mavrogeni, Sophie; Bigalke, Boris; Doenst, Torsten; Pauschinger, Matthias; Tschöpe, Carsten; Schulze, P Christian; Noutsias, Michel

    2017-11-01

    Cardiomyopathies are complex diseases of multifactorial pathogenesis and have a high morbidity and mortality. Over the past decades, several revisions of classifications and definitions of cardiomyopathies have been proposed, primarily focusing on the phenotypic characterization of cardiomyopathies. The MOGE(S) classification system published in 2013 encompasses the classification of rapidly growing knowledge on genetic mutations, acquired causes (i.e., intramyocardial inflammation, viral infections), and further conditions involved in the induction of cardiomyopathies (e.g., storage diseases, toxicity). It is based on five attributes, including morphofunctional characteristics (M), organ involvement (O), genetic or familial inheritance pattern (G), etiological annotation (E), and optional information about the heart failure functional status (S). This review summarizes the development, the cornerstones of the MOGE(S) classification, and the published data on the clinical relevance of the MOGE(S) classification. We furthermore discuss new issues which might be considered for future updates of the MOGE(S) classification of cardiomyopathies.

  13. Impact of cardiac magnetic resonance imaging in non-ischemic cardiomyopathies

    Science.gov (United States)

    Kalisz, Kevin; Rajiah, Prabhakar

    2016-01-01

    Non-ischemic cardiomyopathies include a wide spectrum of disease states afflicting the heart, whether a primary process or secondary to a systemic condition. Cardiac magnetic resonance imaging (CMR) has established itself as an important imaging modality in the evaluation of non-ischemic cardiomyopathies. CMR is useful in the diagnosis of cardiomyopathy, quantification of ventricular function, establishing etiology, determining prognosis and risk stratification. Technical advances and extensive research over the last decade have resulted in the accumulation of a tremendous amount of data with regards to the utility of CMR in these cardiomyopathies. In this article, we review CMR findings of various non-ischemic cardiomyopathies and focus on current literature investigating the clinical impact of CMR on risk stratification, treatment, and prognosis. PMID:26981210

  14. The 50-Year History, Controversy, and Clinical Implications of Left Ventricular Outflow Tract Obstruction in Hypertrophic Cardiomyopathy: From Idiopathic Hypertrophic Subaortic Stenosis to Hypertrophic Cardiomyopathy

    National Research Council Canada - National Science Library

    Barry J Maron; Martin S Maron; E Douglas Wigle; Eugene Braunwald

    2009-01-01

    ...) clinical descriptions of hypertrophic cardiomyopathy (HCM) and has proved to be a complex phenomenon unique in many respects, as well as arguably the most visible and well-known pathophysiologic component of this heterogeneous disease...

  15. European Cardiomyopathy Pilot Registry: EURObservational Research Programme of the European Society of Cardiology.

    Science.gov (United States)

    Elliott, Perry; Charron, Philippe; Blanes, Juan Ramon Gimeno; Tavazzi, Luigi; Tendera, Michal; Konté, Marème; Laroche, Cécile; Maggioni, Aldo P

    2016-01-07

    Cardiomyopathies are a heterogeneous group of disorders associated with premature death due to ventricular arrhythmia or heart failure. The purpose of this study was to examine the characteristics of patients enrolled in the pilot phase of the EURObservational Research Programme (EORP) cardiomyopathy registry. Between 1 December 2012 and 30 November 2013, four cardiomyopathy phenotypes were studied: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and restrictive cardiomyopathy (RCM). Twenty-seven centres in 12 countries participated; 1115 patients were enrolled. The commonest cardiomyopathy was HCM (n = 681), followed by DCM (n = 346), ARVC (n = 59), and RCM (n = 29); 423 patients (46.4% of those reported) had familial disease; and 56 (5.0%) had rare disease phenocopies. Median age at enrolment and diagnosis was 54 [interquartile range (IQR), 42-64] and 46 years (IQR, 32-58), respectively; fewer patients with ARVC and more with RCM were diagnosed in the upper age quartile (P cardiomyopathies except RCM (P = 0.0023). Most patients were in New York Heart Association functional class I (n = 813) at enrolment; 139 (12.5%) reported syncope, most frequently in ARVC (P = 0.0009). Five hundred and seven (45.5%) patients underwent cardiac magnetic resonance imaging, 117 (10.6%) endomyocardial biopsy, and 462 (41.4%) genetic testing with a causative mutation reported in 236 individuals (51.1%). 1026 patients (92.0%) were receiving drug therapy; 316 (28.3%) had received an implantable cardioverter defibrillator (highest proportion in ARVC, P cardiomyopathy are complex, requiring access to a large range of invasive and non-invasive investigations and involvement of multidisciplinary teams. Treatment regimens are equally multifaceted and show that patients are likely to need long-term follow-up in close liaison with expert centres. Published on behalf of the European Society of Cardiology. All rights

  16. Incidence and patterns of cardiomyopathy in carbon monoxide-poisoned patients with myocardial injury.

    Science.gov (United States)

    Cha, Yong Sung; Kim, Hyun; Hwang, Sung Oh; Kim, Jang Young; Kim, Yun Kwon; Choi, Eun Hee; Kim, Oh Hyun; Kim, Hyung Il; Cha, Kyoung Chul; Lee, Kang Hyun

    2016-07-01

    Sustained myocardial injury is a significant predictor of mortality in carbon monoxide (CO) poisoning. There are few reports in the literature regarding the presence of CO-induced cardiomyopathy from early stages in the emergency department (ED). We prospectively investigated the early incidence of CO-induced cardiomyopathy and its patterns in patients with cardiomyopathy. During a 10-month period, transthoracic echocardiography (TTE) was performed in 43 consecutive patients with CO poisoning and myocardial injury, which was defined as elevated high-sensitive troponin I within 24 h after ED arrival. Measurements of left ventricular ejection fraction and wall motion abnormalities were performed to evaluate cardiac function. If a patient had CO-induced cardiomyopathy, we measured cardiac function at the time of patient admission, day 1, day 2, and once within seven days of hospitalization. The incidence of cardiomyopathy was as high as 74.4% (32 of 43 patients) in CO-poisoned patients with myocardial injury based on initial ED results. Echocardiographic patterns included non-cardiomyopathy (25.6%), global dysfunction (51.2%), and Takotsubo-like cardiomyopathy (23.2%). Patients in the global dysfunction group had significantly more normalized cardiac dysfunction within 72 h than did those in the Takotsubo-like cardiomyopathy group (81.8% vs. 22.2%, p = 0.001). Patients with CO poisoning and myocardial injury experienced cardiomyopathy, including reversible global dysfunction and a Takotsubo-like pattern. Investigation of cardiomyopathy needs to be considered in patients with CO poisoning and myocardial injury.

  17. Untangling the Biology of Genetic Cardiomyopathies with Pluripotent Stem Cell Disease Models.

    Science.gov (United States)

    Buikema, Jan W; Wu, Sean M

    2017-04-01

    Recently, the discovery of strategies to reprogram somatic cells into induced pluripotent stem (iPS) cells has led to a major paradigm change in developmental and stem cell biology. The application of iPS cells and their cardiac progeny has opened novel directions to study cardiomyopathies at a cellular and molecular level. This review discusses approaches currently undertaken to unravel known inherited cardiomyopathies in a dish. With improved efficiency for mutation correction by genome editing, human iPS cells have now provided a platform to untangle the biology of cardiomyopathies. Multiple studies have derived pluripotent stem cells lines from patients with genetic heart diseases. The generation of cardiomyocytes from these cells lines has, for the first time, enable the study of cardiomyopathies using cardiomyocytes harboring patient-specific mutations and their corrected isogenic counterpart. The molecular analyses, functional assays, and drug tests of these lines have led to new molecular insights in the early pathophysiology of left ventricular non-compaction cardiomyopathy (LVNC), hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and others. The advent of iPS cells offers an exceptional opportunity for creating disease-specific cellular models to investigate their underlying mechanisms and to optimize future therapy through drug and toxicity screening. Thus far, the iPS cell model has improved our understanding of the genetic and molecular pathophysiology of patients with various genetic cardiomyopathies. It is hoped that the new discoveries arising from using these novel platforms for cardiomyopathy research will lead to new diagnostic and therapeutic approaches to prevent and treat these diseases.

  18. 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.

  19. 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; 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. PMID:26788502

  20. Diagnostic value of rigid body rotation in noncompaction cardiomyopathy.

    Science.gov (United States)

    van Dalen, Bas M; Caliskan, Kadir; Soliman, Osama I I; Kauer, Floris; van der Zwaan, Heleen B; Vletter, Wim B; van Vark, Laura C; Ten Cate, Folkert J; Geleijnse, Marcel L

    2011-05-01

    The diagnosis of noncompaction cardiomyopathy (NCCM) remains subject to controversy. Because NCCM is probably caused by an intrauterine arrest of the myocardial fiber compaction during embryogenesis, it may be anticipated that the myocardial fiber helices, normally causing left ventricular (LV) twist, will also not develop properly. The resultant LV rigid body rotation (RBR) may strengthen the diagnosis of NCCM. The purpose of the current study was to explore the diagnostic value of RBR in a large group of patients with prominent trabeculations. The study comprised 15 patients with dilated cardiomyopathy, 52 healthy subjects, and 52 patients with prominent trabeculations, of whom a clinical expert in NCCM defined 34 as having NCCM. LV rotation patterns were determined by speckle-tracking echocardiography and defined as follows: pattern 1A, completely normal rotation (initial counterclockwise basal and clockwise apical rotation, followed by end-systolic clockwise basal and counterclockwise apical rotation); pattern 1B, partly normal rotation (normal end-systolic rotation but absence of initial rotation in the other direction); and pattern 2, RBR (rotation at the basal and apical level predominantly in the same direction). The majority of normal subjects had LV rotation pattern 1A (98%), whereas the 18 subjects with hypertrabeculation not fulfilling diagnostic criteria for NCCM predominantly had pattern 1B (71%), and the 34 patients with NCCM predominantly had pattern 2 (88%). None of the patients with dilated cardiomyopathy showed RBR. Sensitivity and specificity of RBR for differentiating NCCM from "hypertrabeculation" were 88% and 78%, respectively. RBR is an objective, quantitative, and reproducible functional criterion with good predictive value for the diagnosis of NCCM as determined by expert opinion. Copyright © 2011 American Society of Echocardiography. Published by Mosby, Inc. All rights reserved.

  1. 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.

  2. 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

  3. The Unique Cardiomyopathy with Restrictive Physiology of Sickle Cell Disease

    Science.gov (United States)

    Niss, Omar; Quinn, Charles T.; Lane, Adam; Daily, Joshua; Khoury, Philip R.; Bakeer, Nihal; Kimball, Thomas R.; Towbin, Jeffrey A.; Malik, Punam; Taylor, Michael D.

    2015-01-01

    Objective To identify a unifying cardiac pathophysiology that explains the cardiac pathology in SCD. Background Cardiopulmonary complications, the leading cause of adult mortality in sickle cell disease (SCD), are associated with heart chamber dilation, diastolic dysfunction, elevated tricuspid regurgitant jet velocity (TRV) and pulmonary hypertension (PH). However, no unifying cardiac pathophysiology has been identified to explain these findings. Methods In a two-part study, we first examined SCD patients who underwent screening echocardiography during steady state at our institution. We then conducted a meta-analysis of cardiac studies in SCD. Results In the 134 SCD patients studied (median age 11 years), a significant enlargement of the left atrial volume was present (z-score 3.1, P=0.002), shortening fraction (SF) was normal (37.6 ± 4.7%), and lateral and septal ratios of mitral velocity to early diastolic velocity of the mitral annulus (E/e′) were severely abnormal in 8% and 14% of patients, respectively, indicating impaired diastolic function. Both TRV and lateral E/e′ correlated with enlarged left atrial volume in SCD (P=0.003 and P=0.006, respectively). Meta-analysis of 68 studies confirmed significant left atrial diameter enlargement in SCD patients compared to controls, evidence of diastolic dysfunction and enlarged left ventricular end-diastolic dimension with normal SF. The majority of patients with catheter-confirmed PH had mild pulmonary venous hypertension consistent with restrictive cardiac physiology. Conclusions Patients with SCD have a unique cardiomyopathy with restrictive physiology that is superimposed on hyperdynamic physiology, and is characterized by diastolic dysfunction, left atrial dilation and normal systolic function. This results in mild, secondary, pulmonary venous hypertension and elevated TRV. Sudden death is common in other forms of restrictive cardiomyopathy. Our finding of this unique restrictive cardiomyopathy may explain

  4. First Reported Case of Arrhythmogenic Right Ventricular Cardiomyopathy in Oman

    Directory of Open Access Journals (Sweden)

    Hatim Al Lawati

    2017-07-01

    Full Text Available Arrhythmogenic right ventricular cardiomyopathy (ARVC is a rare genetic disorder characterized by fatty degeneration of the right ventricular myocardium with variable involvement of the left ventricle. The condition is associated with exercise-mediated ventricular tachycardia and is one of the recognized causes of sudden cardiac death in the young and in athletes. Here, we report the first confirmed case of ARVC in Oman and present its electrocardiographic, echocardiographic features, and radiological findings on gated, contrast-enhanced cardiac computed tomography. Our patient was a 22-year-old male who had presented to our hospital for evaluation and investigation of syncope and symptomatic palpitations.

  5. 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.

  6. 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...

  7. Iatrogenic takotsubo cardiomyopathy induced by locally applied epinephrine and cocaine

    DEFF Research Database (Denmark)

    Sundbøll, Jens; Pareek, Manan; Høgsbro, Morten

    2014-01-01

    developed tachycardia and an abrupt rise in blood pressure followed by a drop to critical levels. The patient turned pale and clammy but denied chest pain at any time. An ECG showed inferolateral ST-segment elevation, and troponin T was elevated at 0.773 ng/mL. An acute coronary angiography demonstrated...... normal coronary arteries; however, left ventriculography showed apical ballooning of the left ventricle, and the diagnosis of takotsubo cardiomyopathy was made. This was confirmed by a subsequent transthoracic echocardiography. Four days later the patient had complete resolution of the symptoms...

  8. Histologic Sequelae of Apical Hypertrophic Cardiomyopathy: Dystrophic Calcification

    Directory of Open Access Journals (Sweden)

    Shahryar G Saba

    2017-05-01

    Full Text Available We present cardiac computed tomography (CT findings demonstrating apical hypertrophic cardiomyopathy with dystrophic calcification of the left ventricular apex. The absence of significant epicardial coronary artery disease demonstrated by coronary CT angiography suggests that increased wall tension and decreased microvascular perfusion over time account for the dyskinetic apical myocardium, rather than myocardial infarction secondary to atherosclerotic plaque rupture. These observations support CT as the imaging modality of choice to visualize the deposition of calcium in injured myocardial tissue, a recognized occurrence in chronically infarcted myocardium.

  9. Diagnosis and prognosis of fetal cardiomyopathies: a review.

    Science.gov (United States)

    Mongiovì, Maurizio; Fesslova, Vlasta; Fazio, Giovanni; Barbaro, Giuseppe; Pipitone, Salvatore

    2010-01-01

    Cardiomyopathies (CM) are a very rare disease in fetuses with a very poor outcome. Only isolated case reports and small case series were reported. According with published studies we will describe the fetal CM starting from their echocardiographic presentation: dilated cardiomyopathy (DCM) with dilatation of either or both ventricles and impaired ventricular function, and hypertrophic cardiomyopathy (HCM) with different degree of disproportionate hypertrophy of the myocardial walls. The term of the "noncompaction" of the left ventricular myocardium, is used in cases with DCM with evidence of numerous prominent trabeculations with deep myocardial recesses. In series of neonates and infant the CM occur in about 2-7%, but probably during the fetal life the prevalence is higher: 6% - 11%. The high intrauterine loss, occurring in one third of affected fetuses, likely accounts for these differences. Fetal echocardiography, B and M-mode, is the main diagnostic tool and it is useful for the therapeutic orientation and to determine the neonatal outcome. A haemodynamic evaluation can be performed by Doppler mode. Systolic and diastolic fetal cardiac function have become part of the routine evaluation of the fetal heart. Cardiomyopathies can be isolated or associated with other cardiac and non cardiac malformations. All the studies confirm a great variability of DCM in the fetal age as for the anatomical and functional forms, etiology and hemodynamic impact with different final outcome. Genetic, metabolic, infective, and cardiac diseases may present with DCM. Ventricular dysfunction may be progressive in utero and after birth, but possibility of improvement or even normalization of the left ventricular dysfunction is known in all forms of DCM, "idiopathic", post infective or in noncompaction of left ventricle. The outcome is worse in presence of fetal hydrops, significant atrioventricular valve regurgitation, for the earlier age at presentation and when diastolic dysfunction

  10. Dilated Cardiomyopathy in Behcet's Disease in a Young Male Patient

    Directory of Open Access Journals (Sweden)

    Hamid Khederlou

    2017-10-01

    Full Text Available Behcet’s disease is a multisystemic, inflammatory and chronic disorder characterized by recurrent oral aphthous ulcers and genital ulcers, uveitis and other manifestations, including systemic organ involvement. Cardiac involvement in Behcet’s disease is rarely however, it plays an important role in prognosis and increases mortality. We hereby have reported a case of Behcet's disease with dilated cardiomyopathy. He was presented with constitutional symptoms and also oral and genital aphthous ulcers, pseudofolliculitis, tachycardia, arthritis, splenomegaly, ESR (erythrocyte sedimentation rate and CRP (C-reactive protein elevation and LV systolic dysfunction with LVEF=45% were found in evaluation. He was started on Azathioprine and Prednisolone.

  11. Catheter Ablation for Ventricular Tachycardia in Patients with Nonischemic Cardiomyopathy.

    Science.gov (United States)

    Thompson, Nathaniel; Frontera, Antonio; Takigawa, Masateru; Cheniti, Ghassen; Massoullie, Gregoire; Cochet, Hubert; Denis, Arnaud; Chaumeil, Arnaud; Derval, Nicolas; Hocini, Meleze; Haissaguerre, Michel; Jais, Pierre; Sacher, Frederic

    2017-03-01

    Although catheter ablation has been successful in reducing the recurrence of ventricular tachycardia in patients with ischemic disease, outcomes in patients with nonischemic cardiomyopathy (NICM) have not met with the same results. Success is predicated on a methodical approach to diagnosis of disease type and identification of critical substrate, and the ablation strategies used. Cardiac MRI with delayed enhancement is able to identify areas of substrate involvement, particularly in situations when conventional catheter mapping is not able to do so. Radiofrequency needle, irrigated bipolar radiofrequency, and transcoronary alcohol ablation are effective and alternative techniques to endocardial and epicardial ablation. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Cooperative International Neuromuscular Research Group Duchenne Natural History Study demonstrates insufficient diagnosis and treatment of cardiomyopathy in Duchenne muscular dystrophy.

    Science.gov (United States)

    Spurney, Christopher; Shimizu, Reiko; Morgenroth, Lauren P; Kolski, Hanna; Gordish-Dressman, Heather; Clemens, Paula R

    2014-08-01

    Cardiomyopathy is a common cause of morbidity and death in patients with Duchenne muscular dystrophy (DMD). This investigation was a cross-sectional cross-sectional analysis of clinical data from the multi-institutional Cooperative International Neuromuscular Research Group (CINRG) DMD Natural History Study of 340 DMD patients aged 2-28 years. Cardiomyopathy was defined as shortening fraction (SF) cardiomyopathy was 27% (47 of 174), and it was associated significantly with age and clinical stage. The association of cardiomyopathy with age and clinical stage was not changed by glucocorticoid use as a covariate (P > 0.68). In patients with cardiomyopathy, 57% (27 of 47) reported not taking any cardiac medications. Cardiac medications were used in 12% (15 of 127) of patients without cardiomyopathy. We found that echocardiograms were underutilized, and cardiomyopathy was undertreated in this DMD natural history cohort. Copyright © 2014 Wiley Periodicals, Inc.

  13. Suitability of PCR fingerprinting, infrequent-restriction-site PCR, and pulsed-field gel electrophoresis, combined with computerized gel analysis, in library typing of Salmonella enterica serovar enteritidis

    DEFF Research Database (Denmark)

    Garaizar, J.; Lopez-Molina, N.; Laconcha, I.

    2000-01-01

    Strains of Salmonella enterica (n = 212) of different serovars and phage types were used to establish a library typing computerized system for serovar Enteritidis on the basis of PCR fingerprinting, infrequent-restriction-site PCR (IRS-PCR), or pulsed-field gel electrophoresis (PFGE). The rate...... showed an intercenter reproducibility value of 93.3%. The high reproducibility of PFGE combined with the previously determined high discrimination directed its use for library typing. The use of PFGE with enzymes XbaI, BlnI, and SpeI for library typing of serovar Enteritidis was assessed with GelCompar 4...

  14. Renin-angiotensin system gene polymorphisms as potential modifiers of hypertrophic and dilated cardiomyopathy phenotypes.

    Science.gov (United States)

    Rani, Bindu; Kumar, Amit; Bahl, Ajay; Sharma, Rajni; Prasad, Rishikesh; Khullar, Madhu

    2017-03-01

    The renin-angiotensin (RAS) pathway has an important role in the etiology of heart failure and given the importance of RAS as a therapeutic target in various cardiomyopathies, genetic polymorphisms in the RAS genes may modulate the risk and severity of disease in cardiomyopathy patients. In the present study, we examined the association of RAS pathway gene polymorphisms, angiotensin converting enzyme (ACE), angiotensinogen (AGT), and angiotensin receptor type 1 (AGTR1) with risk and disease severity in Asian Indian idiopathic cardiomyopathy patients. The case-control study was conducted in 400 cardiomyopathy patients diagnosed with HCM, DCM, or restrictive cardiomyopathy (RCM) and 235 healthy controls. Genotyping of patients and controls was done by PCR-RFLP assays. Left ventricular wall thickness and left ventricular ejection fraction were measured by means of M-mode echocardiography. We observed significantly higher prevalence of ACE DD and AGTR1 1166CC genotypes in hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) patients. Also, 235TT genotype of AGT (M235T) was significantly associated with enhanced risk of the disease phenotype in HCM, DCM, and RCM.

  15. 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.

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

    Science.gov (United States)

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

    2015-04-01

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

  17. A young man with acute dilated cardiomyopathy associated with methylphenidate

    Directory of Open Access Journals (Sweden)

    Tor-Bjarne Nymark

    2008-04-01

    Full Text Available Tor-Bjarne Nymark1, A Hovland2, H Bjørnstad2, E W Nielsen1,31Section for Emergency Medicine; 2Department of Cardiology, Nordland Hospital, Bodø, Norway; 3University of Tromsø, Tromsø, NorwayAbstract: An 18-year-old obese man with a body mass index of 40, diagnosed with attention-deficit hyperactivity disorder and treated with methylphenidate (Concerta® was acutely admitted to hospital with hypoxia and dyspnoea. On investigation signs of liver-, renal-, and heart-failure were found. Noradrenalin infusion was started. Echocardiography showed dilated left ventricle and an ejection fraction (EF of 25%. Liver function improved, noradrenalin and dobutamine were tapered, but three days after admission a new echocardiography showed an EF of 10%. The patient was transferred to the National Hospital (Rikshospitalet, Oslo, where intensified treatment including intra aortic balloon pump (IABP was instituted. Cardiac function improved, and 3 weeks later the IABP was disconnected. EF at this point was 15%. The patient was denied heart transplantation due to various cofactors. The investigation concluded with a probable relationship between his cardiomyopathy and the use of methylphenidate (Concerta.Keywords: cardiomyopathy, heart failure, ADHD, methylphenidate

  18. [State of diagnostics and therapy of inflammatory cardiomyopathie].

    Science.gov (United States)

    Schultheiss, H P; Kühl, U

    2008-01-01

    Myocardial inflammation of cardiac muscle is caused by intramyocardial infiltration of immunological competent cells. Etiologically, the relevant factors are the direct or indirect influence of infectious pathogens, toxic, chemical or physical agents, allergic-hyperergic reactions and myocardial inflammatory events in the context of systemic diseases. Clinically significant infections include cardiotropic viruses, which are capable of causing acute or chronic damage to the myocardium under certain conditions. The wide variety of etiologies in inflammatory cardiomyopathy and its heterogeneous clinical presentations have impeded patients identification and consensus on the most appropriate diagnostic criteria and specific therapeutic strategies. Although the Dallas criteria have standardized the histological definition of active myocarditis, the recognition of true etiologies of acute and chronic stages of inflammatory cardiomyopathies require additional and more sensitive markers of tissue inflammation and molecular biological identification of responsible infectious agents. Actually, only biopsy-based diagnosis and characterization of patients allow identification of patients who may get benefit from specific immunosuppressive or anti-viral treatment strategies.

  19. 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.

  20. 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

    2015-07-01

    Chagas disease is a cause of dilated cardiomyopathy, and information about left atrial (LA) function in this disease still lacks. 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. 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. 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. An impairment of LA functions in Chagas cardiomyopathy was observed.

  1. 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.)

  2. Structural changes in the myocardium during diabetes-induced cardiomyopathy.

    Science.gov (United States)

    Adeghate, Ernest; Singh, Jaipaul

    2014-01-01

    Diabetes mellitus (DM) is a major metabolic disorder currently affecting over 250 million people globally. It costs the worldwide health services almost £800 billion annually to diagnose, treat and care for patients with diabetes. DM is predicted to rise to 350 million by 2030. If left unmanaged, DM can lead to numerous long-term complications including micro- and macro-angiopathy and heart failure (HF). Most diabetics usually die as a result of HF resulting from diabetes-induced coronary artery disease and cardiomyopathy. Coronary artery disease and cardiomyopathy are normally preceded by hyperglycaemia (HG). This review examines the structural changes, which occur within the myocardium and cardiomyocytes during exposure of the heart to diabetes-induced HG and HG-induced oxidative stress. HG and the resulting oxidative stress are associated with marked myocardial hypertrophy and fibrosis compared to control heart. At the ultrastructural level, cardiomyocytes subjected to chronic HG and subsequent oxidative stress display swollen mitochondria, reduced mitochondrial number and defective myofibrils and intercalated discs. Evidence from many studies shows that both type 1 and type 2 diabetes-induced HG can cause myocardial fibrosis, mitochondriopathy, myocyte hypertrophy and deranged myofibrils. All of these structural changes may eventually result in HF if left untreated.

  3. Mitochondrial dysfunction may explain the cardiomyopathy of chronic iron overload.

    Science.gov (United States)

    Gao, Xueshan; Qian, Mingwei; Campian, Jian Li; Marshall, James; Zhou, Zhanxiang; Roberts, Andrew M; Kang, Y James; Prabhu, Sumanth D; Sun, Xiao-Feng; Eaton, John W

    2010-08-01

    In patients with hemochromatosis, cardiac dysfunction may appear years after they have reached a state of iron overload. We hypothesized that cumulative iron-catalyzed oxidant damage to mitochondrial DNA (mtDNA) might explain the cardiomyopathy of chronic iron overload. Mice were given repetitive injections of iron dextran for a total of 4weeks after which the iron-loaded mice had elevated cardiac iron, modest cardiac hypertrophy, and cardiac dysfunction. qPCR amplification of near-full-length ( approximately 16kb) mtDNA revealed >50% loss of full-length product, whereas amounts of a qPCR product of a nuclear gene (13kb region of beta globin) were unaffected. Quantitative rtPCR analyses revealed 60-70% loss of mRNA for proteins encoded by mtDNA with no change in mRNA abundance for nuclear-encoded respiratory subunits. These changes coincided with proportionate reductions in complex I and IV activities and decreased respiration of isolated cardiac mitochondria. We conclude that chronic iron overload leads to cumulative iron-mediated damage to mtDNA and impaired synthesis of mitochondrial respiratory chain subunits. The resulting respiratory dysfunction may explain the slow development of cardiomyopathy in chronic iron overload and similar accumulation of damage to mtDNA may also explain the mitochondrial dysfunction observed in slowly progressing diseases such as neurodegenerative disorders. Copyright 2010 Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

    Ushasree, B; Shivani, V; Venkateshwari, A; Jain, R K; Narsimhan, C; Nallari, Pratibha

    2009-07-01

    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. 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. 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.

  5. Cobalt Cardiomyopathy Secondary to Hip Arthroplasty: An Increasingly Prevalent Problem

    Directory of Open Access Journals (Sweden)

    Russel Tilney

    2017-01-01

    Full Text Available A forty-year-old man experienced worsening heart failure four years following bilateral complicated total hip replacement. His condition was extensively worked up but no underlying pathology was immediately evident. Given the cobalt-chromium alloy component present in the hip arthroplasties, the raised cobalt blood levels, and a fitting clinical picture coupled with radiological findings, the patient underwent right hip revision. Evidence of biotribocorrosion was present on direct visualisation intraoperatively. The patient subsequently experienced symptomatic improvement (NYHA class III to class I and echocardiography showed recovery of ejection fraction. Cobalt exists as a bivalent and trivalent molecule in circulation and produces a cytotoxicity profile similar to nanoparticles, causing neurological, thyroid, and cardiological pathology. Blood levels are not entirely useful as there is no identifiable conversion factor for levels in whole blood, serum, and erythrocytes which seem to act independently of each other. Interestingly cobalt cardiomyopathy is frequently compounded by other possible causes of cardiomyopathy such as alcohol and a link has been postulated. Definitive treatment is revision of the arthroplasty as other treatments are unproven.

  6. BRCA1 Reflects Myocardial Adverse Remodeling in Idiopathic Dilated Cardiomyopathy.

    Science.gov (United States)

    Nozynski, J K; Konecka-Mrowka, D; Zakliczynski, M; Zembala-Nozynska, E; Lange, D; Zembala, M

    2016-06-01

    The role of BRCA1 in chronic ischemic episodes seems to be pivotal for adverse remodeling and development of ischemic cardiomyopathy, because of its role in DNA repair and apoptosis. The aim of this study was to investigate the role of BRCA-1 in idiopathic dilated cardiomyopathy (IDCM). The study group (IDCM) comprised myocardial samples from hearts explanted before transplantation owing to IDCM in 10 males (age 44 ± 5.3 years) without clinical symptoms of ischemic heart disease. The control group consisted myocardial fragments taken from 10 male heart valve and pulmonary artery donors with diagnosed cerebral death (age 40 ± 2.3 years). BRCA1 was detected immunohistochemically with rabbit anti-BRCA1 polyclonal antibody. The intensity of BRCA1 expression was semiquantitatively assessed for cardiocytes, small vessels including capillaries, and interstitial cells. The significances between groups were estimated using the Mann-Whitney U test. All IDCM cases were positive and presented nonuniform BRCA1 expression: hypertrophied cardiocytes showed very intense staining and typical cardiomyopathic cardiocytes were stained weakly forming mosaic. Control cases showed weak-to-moderate uniform staining. Intensity of staining was significantly higher in IDCM cardiocytes, whereas small vessels and interstitial were stained similarly in both groups. IDCM adverse remodeling results in more intense but nonuniform BRCA1 expression. This phenomenon seems to reflect IDCM biology: lower BRCA1 expression in myocytes with lower anti-apoptotic and DNA damage repair activity, with the opposite in hypertrophied myofibers. Copyright © 2016 Elsevier Inc. All rights reserved.

  7. Arrhythmogenic right ventricular cardiomyopathy: contribution of different electrocardiographic techniques.

    Science.gov (United States)

    Moreira, Davide; Delgado, Anne; Marmelo, Bruno; Correia, Emanuel; Gama, Pedro; Pipa, João; Nunes, Luís; Santos, Oliveira

    2014-04-01

    Arrhythmogenic right ventricular cardiomyopathy, also known as arrhythmogenic right ventricular dysplasia, is a condition in which myocardium is replaced by fibrous or fibrofatty tissue, predominantly in the right ventricle. It is clinically characterized by potentially lethal ventricular arrhythmias, and is a leading cause of sudden cardiac death. Its prevalence is not known exactly but is estimated at approximately 1:5000 in the adult population. Diagnosis can be on the basis of structural and functional alterations of the right ventricle, electrocardiographic abnormalities (including depolarization and repolarization alterations and ventricular arrhythmias) and family history. Diagnostic criteria facilitate the recognition and interpretation of non-specific clinical features of this disease. The authors present a case in which the diagnosis of arrhythmogenic right ventricular cardiomyopathy was prompted by the suspicion of right ventricular disease on transthoracic echocardiography. This was confirmed by detection of epsilon waves on analysis of the ECG, which generally go unnoticed but in this case were the key to the diagnosis. Their presence was also shown by non-conventional ECG techniques such as modified Fontaine ECG. The course of the disease culminated in the occurrence of ventricular tachycardia, which prompted placement of an implantable cardioverter-defibrillator. Copyright © 2013 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  8. 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.

  9. The limited clinical value of a specific diabetic cardiomyopathy.

    Science.gov (United States)

    Vigili de Kreutzenberg, S; Avogaro, A

    2013-07-01

    Diabetic patients show a higher likelihood of developing heart failure (HF), independently of the atherosclerotic process, than their nondiabetic counterparts. This suggests the presence of an intrinsic vulnerability of the heart in patients with diabetes mellitus. A cardiomyopathy specific to the diabetic patient was first hypothesized by Rubler and co-workers, in 1972 and recognized as a nosologic entity by the World Health Organization (WHO) in 1995. All patients falling under Rubler's definition had ascertained diabetic glomerusclerosis, but were unaffected by major coronary artery disease (CAD). Notably, the mean plasma glucose in those patients was 417 ± 209 mg/dl. Since then, several studies conducted in both animals and in humans have focused on pathogenetic mechanisms, clinical manifestations, diagnostic as well as therapeutic approaches utilized for the treatment of diabetic cardiomyopathy (DCM). Despite the large body of literature available, the clinical entity and significance of this diabetic complication continue to be elusive. In the present report, recent pathophysiological findings and diagnostic strategies to treat DCM are reviewed. Particular attention is dedicated to the clinical manifestation of DCM, that is to heart failure (HF), and to the implications of co-morbidities and metabolic control on its evolution. Copyright © 2013 Elsevier B.V. All rights reserved.

  10. Mid-Ventricular Variant of Dobutamine-Induced Stress Cardiomyopathy.

    Science.gov (United States)

    Chandraprakasam, Satish; Kanuri, Swapna; Hunter, Claire

    2015-05-01

    Dobutamine stress testing is a commonly used modality in detecting and estimating the prognosis in coronary artery disease (CAD). Although it is well tolerated by most patients, adverse events have been reported. Rarely, transient wall motion abnormalities can occur in the absence of obstructive CAD to suggest stress cardiomyopathy. We report a 48-year-old female with intermittent chest pain. Her physical exam, cardiac enzymes and transthoracic echocardiogram were unremarkable. She underwent dobutamine stress echocardiogram to rule out obstructive CAD. After 40 micrograms (mcg)/kg/minute and 0.5 mg atropine, she complained of intense chest pain and became hypertensive. Stress echocardiogram demonstrated mid-anterior and mid-septal hypokinesis. Emergent coronary angiogram demonstrated normal coronaries. Left ventricular angiogram in the right anterior oblique projection revealed mid-ventricular ballooning during systole with apical and basal hypercontractility. Patient demonstrated excellent recovery with expectant management. The mechanism of mid-variant of Dobutamine-induced stress cardiomyopathy remains unclear. We think that multiple mechanisms are involved and this risk should be considered in patients with comorbid psychiatric conditions and with use of centrally acting stimulants.

  11. Dilated Cardiomyopathy in Children and Adults: What is New?

    Directory of Open Access Journals (Sweden)

    Galal E. Nagib Elkilany

    2008-01-01

    Full Text Available Dilated cardiomyopathy (DCM is the most common form of cardiomyopathy and cause of cardiac transplantation in children and young adults; mortality is high among this patient population. However, mortality, clinical course, and illustrative echocardiographic data of DCM in children and adults are not well established. Our objective was to provide a research article of detailed descriptions of the incidence, causes, outcomes, related risk factors, and new echocardiographic criteria of risk of death from DCM. Our results showed that independent risk factors at DCM diagnosis for subsequent death or transplantation in children cohorts were older age, congestive heart failure, lower left ventricular ejection fraction (EF ≤ 25%, low global strain, significant mitral valve incompetence, pulmonary hypertension, diastolic dysfunction, right ventricular involvement, and cause of DCM (p < 0.001 for all. In adults, low ejection fraction (<30–35%, global peak systolic strain <-7.6%, increased EDV, ESV, LBBB, diastolic dysfunction, and left ventricle dyssynchrony were the main independent risk factors for major cardiac events and need for CRT or transplantation (p < 0.001 for all. Our conclusions were that in children and adults, DCM is a diverse disorder with outcomes that depend largely on cause, age, heart failure status at presentation, and echocardiographic parameters of the heart (systolic and diastolic function of left ventricle, pulmonary artery pressure, global strain, and valvular function of the mitral valve. This study will present new findings in the diagnostic area.

  12. Stress Induced Cardiomyopathy with Midventricular Ballooning: A Rare Variant

    Directory of Open Access Journals (Sweden)

    Muhammad Umer Siddiqui

    2015-01-01

    Full Text Available Stress cardiomyopathy (SCM also referred to as the “broken heart syndrome” is a condition in which intense emotional or physical stress can cause fulminant and reversible cardiac muscle weakness. SCM most commonly involves the apical segment of left ventricle but newer and rare variants have recently been seen reported. We here report a case of rare midventricular variant of stress related cardiomyopathy. A 72-year-old female with past medical history, only significant for SVT, presented with an episode of severe substernal chest pain while hiking with her husband. She felt a significant heaviness in her chest and was short of breath. During her hospitalization she was found to have positive cardiac enzymes. EKG showed 1 mm downsloping ST segment changes. Ventriculogram during left heart catheterization revealed dyskinetic midventricle. Patient was diagnosed with midventricular SCM. The patient was placed on ACE inhibitor and beta-blocker and discharged in a well-compensated state. We suggest identifying these patients by standard lab testing, electrocardiography, echocardiography, and left heart coronary angiography and ventriculography. Management of this unique entity is similar to the other variants with close observation and treatment of accompanying heart failure, valvular dysfunction, and any arrhythmias that may develop.

  13. Stress Induced Cardiomyopathy with Midventricular Ballooning: A Rare Variant.

    Science.gov (United States)

    Siddiqui, Muhammad Umer; Desiderio, Michael C; Ricculli, Nicholas; Rusovici, Arthur

    2015-01-01

    Stress cardiomyopathy (SCM) also referred to as the "broken heart syndrome" is a condition in which intense emotional or physical stress can cause fulminant and reversible cardiac muscle weakness. SCM most commonly involves the apical segment of left ventricle but newer and rare variants have recently been seen reported. We here report a case of rare midventricular variant of stress related cardiomyopathy. A 72-year-old female with past medical history, only significant for SVT, presented with an episode of severe substernal chest pain while hiking with her husband. She felt a significant heaviness in her chest and was short of breath. During her hospitalization she was found to have positive cardiac enzymes. EKG showed 1 mm downsloping ST segment changes. Ventriculogram during left heart catheterization revealed dyskinetic midventricle. Patient was diagnosed with midventricular SCM. The patient was placed on ACE inhibitor and beta-blocker and discharged in a well-compensated state. We suggest identifying these patients by standard lab testing, electrocardiography, echocardiography, and left heart coronary angiography and ventriculography. Management of this unique entity is similar to the other variants with close observation and treatment of accompanying heart failure, valvular dysfunction, and any arrhythmias that may develop.

  14. 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.

  15. Measurements in Pediatric Patients with Cardiomyopathies: Comparison of Cardiac Magnetic Resonance Imaging and Echocardiography.

    Science.gov (United States)

    Zhang, Yuting; He, Ling; Cai, Jinhua; Lv, Tiewei; Yi, Qijian; Xu, Yang; Liu, Lingjuan; Zhu, Jing; Tian, Jie

    2015-01-01

    Cardiomyopathies are common cardiovascular diseases in children. Cardiac magnetic resonance imaging (cMRI) and echocardiography (Echo) are routinely applied in the detection and diagnosis of pediatric cardiomyopathies. In this study, we compared and explored the correlation between these two measurements in pediatric patients with various cardiomyopathies. A total of 53 pediatric patients with cardiomyopathy hospitalized during the recent 3 years in our hospital were analyzed. All of them and 22 normal controls were assessed by both cMRI and Echo. Cardiac function of the patients was graded according to the New York Heart Association functional classification. The cardiac function indexes measured with both cMRI and Echo included left-ventricular (LV) end-diastolic volume (EDV), end-systolic volume, ejection fraction and fractional shortening. These parameters were somehow lower in cMRI measurements than in Echo measurements. The index of diastolic function, such as peak filling rate (PFR) measured with cMRI, had a good correlation with the clinical cardiac functional score, while the index of the diastolic function (early/atrial filling ratio and isovolumic relaxation time) measured with Echo was not well correlated with the clinical cardiac function score. Significant systolic dysfunction was detected by cMRI in 34 patients with dilated cardiomyopathy, LV noncompaction or endocardial fibroelastosis. Significant diastolic dysfunction was detected by cMRI in 19 patients with hypertrophic cardiomyopathy or restrictive cardiomyopathy showing an alteration in PFR and EDV. Both cMRI and Echo are of great value in the diagnosis and assessment of cardiac function in pediatric patients with cardiomyopathy. cMRI could accurately display the characteristic morphological changes in the hearts affected with cardiomyopathies, and late gadolinium enhancement on cMRI may reveal myocardial fibrosis, which has obvious advantages over Echo measurements in diagnosis. Furthermore, c

  16. Cardiomyopathy in patients after posttransplant cyclophosphamide-based hematopoietic cell transplantation.

    Science.gov (United States)

    Lin, Chien-Jung; Vader, Justin M; Slade, Michael; DiPersio, John F; Westervelt, Peter; Romee, Rizwan

    2017-05-15

    The use of posttransplant cyclophosphamide (PT-Cy) has contributed significantly to the success of haploidentical hematopoietic cell transplantation (HCT). Furthermore, several studies have shown promising results in the human leukocyte antigen-matched setting. However, the use of high-dose cyclophosphamide has been associated with the development of cardiomyopathy. There is a paucity of data concerning posttransplant cardiac complications in patients undergoing PT-Cy-based HCT. A retrospective analysis of 176 patients undergoing HCT with PT-Cy was performed. The overall survival, left ventricular ejection fractions, brain natriuretic peptide levels, and cardiac comorbidities were reviewed. The associations between comorbidities and the onset of heart failure were assessed with a Cox proportional hazards model. Pretransplant cardiomyopathy was found in 16 patients (9.1%) but had no effect on their posttransplant overall survival. Thirty-five patients (21.9%) developed posttransplant cardiomyopathy, which correlated with increased mortality, but this was not statistically different from the frequency-matched non-PT-Cy cohort. The majority of these cardiomyopathies occurred in the setting of an infectious milieu. An age greater than 60 years and an HCT comorbidity index score equal to or greater than 4 were the only risk factors that correlated with posttransplant cardiomyopathy. The presence of pretransplant cardiomyopathy does not negatively affect overall survival for patients who undergo HCT with PT-Cy. Furthermore, cardiomyopathy in PT-Cy patients is not caused by PT-Cy but is mostly concurrent with infectious complications and is associated with reduced overall survival. Traditional cardiovascular risk factors do not fully predict the occurrence of posttransplant cardiomyopathy. Future research is required to unravel predictive factors for cardiomyopathy after PT-Cy-based HCT. Cancer 2017;123:1800-1809. © 2017 American Cancer Society. © 2017 American Cancer

  17. Women's experiences of Takotsubo cardiomyopathy in a short-term perspective--a qualitative content analysis.

    Science.gov (United States)

    Dahlviken, Rønnaug M; Fridlund, Bengt; Mathisen, Lars

    2015-06-01

    Takotsubo cardiomyopathy is a reversible condition mimicking acute myocardial infarction. The phenomenon is associated with emotional and physical stressful trigger events. Evidence-based patient counselling should be based on disease-specific knowledge of patient experiences. The aim of the study was to describe women's experiences of Takotsubo cardiomyopathy in a short-term perspective. The study design was explorative and descriptive. Semi-structured interviews were conducted with 14 women diagnosed with Takotsubo cardiomyopathy, 1 day to 9 months after hospitalisation. The transcriptions underwent qualitative content analysis. The main theme that emerged was Takotsubo cardiomyopathy as a continuous process of making sense and adapting. To begin with, understanding and coping with signs and symptoms were described as having a diversity of signs and symptoms, taking actions towards signs and symptoms, receiving treatment for suspected ST/non ST-elevation myocardial infarction diagnosis and finally being diagnosed with Takotsubo cardiomyopathy. Understanding the context of illness was expressed as getting treated for Takotsubo cardiomyopathy diagnosis and having previous stressful conditions of life. The changing perspective that emanated was a combination of having prospects and expectations and experiencing limitations. Finally, managing to live with Takotsubo cardiomyopathy was manifested as returning home with the illness and receiving follow-up health care. Information on regaining prior health status and capacity within a short-term perspective may not be accurate. These women struggle and require education and counselling from healthcare professionals to comprehend and manage having a Takotsubo cardiomyopathy diagnosis. Women experiencing Takotsubo cardiomyopathy may be a target group for holistic and individual health care with a longer duration of follow-up. © 2014 Nordic College of Caring Science.

  18. Dual etiology of dilated cardiomyopathy: the synergistic role of vitamin D deficiency.

    Science.gov (United States)

    Laranjo, Sérgio; Trigo, Conceição; Pinto, Fátima F

    2014-03-01

    Dilated cardiomyopathy is the commonest form of cardiomyopathy in pediatric patients. Various causal factors have been identified, including ionic imbalance. Calcium ions play an essential role in regulating myocardial contractile function, and the harmful role of hypocalcemia as a coadjuvant or even precipitating factor of worsening heart failure has been described in rare case reports. Multiple causative factors may occasionally be present. We describe the first case, to our knowledge, of dilated cardiomyopathy in an infant with severe hypocalcemia and viral myocarditis. Copyright © 2011 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  19. Ventricular arrhythmias due to left ventricular noncompaction cardiomyopathy: a diagnosis in hindsight.

    Science.gov (United States)

    Liang, Jackson J; McKenzie, Kyle M; Cha, Yong-Mei

    2014-02-01

    Left ventricular noncompaction cardiomyopathy is a rare congenital cardiomyopathy which predisposes to sudden cardiac death. We describe the case of a 24 year-old man who had previously received an implantable cardioverter-defibrillator for sustained ventricular tachycardia and was later diagnosed with left ventricular noncompaction cardiomyopathy during a hospitalisation for device infection. Copyright © 2013 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by Elsevier B.V. All rights reserved.

  20. [Severe pulmonary embolism and acute lower limb ischemia complicating peripartum cardiomyopathy successfully treated by streptokinase].

    Science.gov (United States)

    Yaméogo, N V; Kaboré, E; Seghda, A; Kagambèga, L J; Kaboré, H P; Millogo, G R C; Kologo, K J; Kambiré, Y; Bama, A; Toguyeni, B J Y; Samadoulougou, A K; Zabsonré, P

    2016-02-01

    Peripartum cardiomyopathy is a cardiac disease at high thromboembolism potential. The authors report a case of peripartum cardiomyopathy admitted for congestive heart failure. Echocardiography found a dilated cardiomyopathy with severely impaired left ventricular systolic function and biventricular thrombi. During hospitalization his condition was complicated by severe bilateral pulmonary embolism and left lower limb arterial acute thrombosis. The treatment consisted of thrombolysis with streptokinase associated with dobutamine (in addition to the conventional treatment of heart failure and bromocriptine). The outcome was favorable, marked by pulmonary and lower limb arterial unblocking. Copyright © 2014 Elsevier Masson SAS. All rights reserved.