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Regular physical activity has been found helpful--contrary to previous belief--in heart disease and has a positive effect on the wellbeing of the patient. A positive effect on the mortality rate from coronary heart disease with normal left ventricular function has been found. The physical performance of the patient with impaired left ventricular function increases via reduction of peripheral vascular resistance, increased blood flow and more efficient muscle metabolism. Patients with arterial hypertension profit equally from a regular workout. But in the presence of end organ damage high intensity sports should be avoided. In cases of congenital valvular disease with heart failure and right and left ventricular congestion the activity level should be adapted to the symptoms. Hypertrophic cardiomyopathy is the most common reason for sudden death in young athletes. If diagnosed, all high intensity sports are strictly forbidden. Threatening ventricular arrhythmias are seldom found in young adults. Symptomatic arrhythmias should be investigated for organic causes.
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PMID:[Cardiovascular diseases and sports]. 1032 Nov 20

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease of unknown cause. It can cause both cardiac arrhythmia and heart failure or sudden death. As such patients typically will present to one of three groups depending upon the symptoms at presentation: the pathologist, the physician or the arrhythmologist. Typically a young patient who presents with presyncope or syncope may be investigated by an electrophysiologist and have ventricular tachyarrhythmias. Sadly some young individuals with ARVC may present to a pathologist with sudden cardiac death. Those that survive repeated bouts off arrhythmia and/or some individuals with primary heart failure may initially present to general physicians/cardiologists. With the introduction of molecular genetic studies a wider spectrum of disease manifestation has become apparent for Hypertrophic cardiomyopathy (HCM). Different clinical forms of ARVC have been described as having different genetic loci possibly reflecting phenotypic and genetic heterogeneity. Genetic studies have highlighted the difficulties of variable and age-related penetrance for HCM this appears to also be true of ARVC. From the various perspectives it can be seen that ARVC encompasses a complex and variable disease. Over the last decade ongoing research has allowed a much greater understanding of ARVC. Initially arrhythmia was highlighted as the primary disease manifestation, but it has been shown ARVC is a progressive disease, which may present with heart failure or sudden death. As research continues to unravel the complexities of both genetic and environmental factors responsible for variable disease presentation and modification, improvements should also be possible in terms of diagnostic specificity and therapy.
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PMID:Arrhythmogenic right ventricular cardiomyopathy: perspectives on disease. 1050 90

Hypertrophic cardiomyopathy is a primary and usually familial cardiac disorder characterized by a genetic, pathophysiologic and clinical complexity. The natural history of the disease is extremely heterogenous: many patients have no or mild symptoms and a near-normal longevity, some develop severe symptoms of heart failure, and others die suddenly often at a young age and in the absence of previous symptoms. Although sudden and unexpected cardiac death may occur at any age in hypertrophic cardiomyopathy, this devastating event is the most common modality of death in children and young patients. Despite intense investigation, risk stratification remains a major challenge. This paper examines the present knowledge on risk assessment and treatment strategies for the prevention of sudden death.
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PMID:[Hypertrophic cardiomyopathy and sudden death]. 1132 Aug 53

Hypertrophic cardiomyopathy (HC) is associated with an increased risk of sudden cardiac death or death from heart failure. Little is known of the pathologic substrate for risk of premature death in this disease. We therefore set out to correlate the pathologic findings with the mode of death and risk profile in 75 patients with HC. Hearts with HC were obtained after death or transplantation. The clinical details were correlated with the macroscopic findings and the percent fibrosis, disarray, and small-vessel disease across 19 sections of each heart. Thirty-nine patients died suddenly, 28 had end-stage heart failure, and 8 died of other causes. Myocyte disarray correlated positively with evidence of ischemia (r = 0.5, p <0.0001), and was greater in patients who died before age 21 years (mean disarray 33% vs 18%, p <0.0001) and in those with an abnormal vascular response to exercise (mean disarray and 30% vs 19%, p = 0.04). Myocardial fibrosis was greater in patients who died in heart failure (mean percent fibrosis was 2.8% versus 0.9%, p = 0.003), and in patients with nonsustained ventricular tachycardia or a high risk fractionation study (4.9% vs 2.7%, p = 0.04, and 6.84% vs 2.8%, p = 0.03, respectively). In conclusion, young patients who die with HC have greater disarray than their older counterparts. In contrast, myocardial fibrosis is the substrate for premature deaths from heart failure and is associated with an increased risk of a primary ventricular arrhythmia.
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PMID:Relation between myocyte disarray and outcome in hypertrophic cardiomyopathy. 1147 7

Hypertrophic cardiomyopathy (HCM) is a rare, often familial condition, which may be complicated by syncope, atrial or ventricular arrhythmias and episodes of cardiac failure. This genetic disease affects young people and may be observed in women wishing for a pregnancy. The duration and outcome of such pregnancies has not been extensively studied. The authors undertook a retrospective study by questionnaire to compare the pregnancies of 41 women with HCM, a total of 150 pregnancies, with those of 39 unaffected women from the same families: a total of 132 pregnancies. None of the women died, there were no hospital admission for cardiac causes and there was no aggravation of functional status (31% of women with HCM had symptoms before pregnancy compared with 27% during pregnancy). The foetal prognosis was good with no increase in prematurity or neonatal crises. Only the women with symptoms before pregnancy had an increased risk of foetal prematurity compared with healthy women (18% versus 5%). These results indicate the good tolerance of pregnancy of women with HCM and should lead to a revision of systematic medical contra-indication of pregnancy in these patients.
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PMID:[Familial hypertrophic cardiomyopathy. French study of the duration and outcome of pregnancy]. 1193 43

Major advances have been made over the last decade in our understanding of the molecular basis of several cardiac conditions. Hypertrophic cardiomyopathy (HCM) was the first cardiac disorder in which a genetic basis was identified and as such, has acted as a paradigm for the study of an inherited cardiac disorder. HCM can result in clinical symptoms ranging from no symptoms to severe heart failure and premature sudden death. HCM is the commonest cause of sudden death in those aged less than 35 years, including competitive athletes. At least ten genes have now been identified, defects in which cause HCM. All of these genes encode proteins which comprise the basic contractile unit of the heart, i.e. the sarcomere. While much is now known about which genes cause disease and the various clinical presentations, very little is known about how these gene defects cause disease, and what factors modify the expression of the mutant genes. Studies in both cell culture and animal models of HCM are now beginning to shed light on the signalling pathways involved in HCM, and the role of both environmental and genetic modifying factors. Understanding these mechanisms will ultimately improve our knowledge of the basic biology of heart muscle function, and will therefore provide new avenues for treating cardiovascular disease in man.
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PMID:Hypertrophic cardiomyopathy: from gene defect to clinical disease. 1264 45

Congestive heart failure is a major problem in developed and developing countries alike. Primary dysfunction of the heart muscle accounts for a significant proportion of patients with a non-ischaemic cause of heart failure. Application of genetic techniques has facilitated identification of some molecular causes of the inherited form of these diseases, dramatically increasing our understanding of the pathogenesis of these primary, previously termed 'idiopathic', cardiomyopathies over the last few decades. Knowledge of the different causes is beginning to coalesce into aetiological principles underlying the clinically distinguished cardiomyopathies. Hypertrophic cardiomyopathy (HCM) now appears to be a disease caused by a dysfunctional sarcomere, dilated cardiomyopathy (DCM), a disease of myocytic structural instability, and arrhythmogenic right ventricular cardiomyopathy, a disease of accelerated myocyte death. The aetiology of both HCM and DCM probably also involves cardiac energy imbalances, while additional factors modify the clinical expression in all cardiomyopathies. Even though our knowledge of the genetic aetiology of the cardiomyopathies is still incomplete, it already has relevant clinical significance. Elucidation of the full genetic contribution to the development and progression of the cardiomyopathies represents a new challenge in the study of these diseases, and will undoubtedly lead to new therapeutic approaches in the not-too-distant future.
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PMID:Molecular genetics of cardiomyopathy: changing times, shifting paradigms. 1284

Hypertrophic cardiomyopathy is a relatively common genetic disorder with heterogeneity in mutations, forms of presentation, prognosis and treatment strategies. Hypertrophic cardiomyopathy is recognized as the most common cause of sudden cardiac death that occurs in young people, including athletes. The clinical diagnosis is complemented with the ecocardiographic study, in which an abnormal myocardial hypertrophy of the septum can be observed in the absence of a cardiac or systemic disease (arterial systemic hypertension, aortic stenosis). The annual sudden mortality rate is 1% and, in selected populations, it ranges between 3 and 6%. The therapeutic strategies depend on the different subsets of patients according to the morbidity and mortality, sudden cardiac death, obstructive symptoms, heart failure or atrial fibrillation and stroke. High risk patients for sudden death may effectively be treated with the automatic implantable cardioverter-defibrillator.
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PMID:[Hypertrophic cardiomyopathy. Arrhythmia in hypertrophic cardiomyopathy]. 1296 40

Hypertrophic cardiomyopathy (HCM) have been reported to display impaired heart rate variability, although little is known regarding its prognostic value. By using fast Fourier transformation of 24-hour Holter recordings in 73 HCM patients at a stable clinical condition, we computed 4 spectral components: very low frequency, low frequency, high frequency, and total power. During 28 months, 7 HCM patients experienced death or acquired hospitalization for heart failure. Sudden death did not occurred. High frequency component was lower in HCM patients with cardiac events than that in patients without cardiac events (3.78 +/- 0.66 vs. 4.43 +/- 0.92 In(ms(2)), P =.045). There were no significant differences in other heart rate variability variables between HCM patients with and without cardiac events. In multivariate analysis, high frequency component remained to be an independent predictor of cardiac events (relative risk=0.10, 95% CI 0.01-0.73, P =.023). Heart rate variability analysis is predictive of heart failure in our cohort of HCM patients, whereas its predictive value of sudden death remains unclear.
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PMID:Prognostic value of heart rate variability in patients with hypertrophic cardiomyopathy. 1466 Nov 70

Hypertrophic cardiomyopathy is a Mendelian disease characterized by cardiac hypertrophy. It has a prevalence of 1:500 individuals and is the most common cause of sudden death in the young. Other complications include heart failure and the need for heart transplantation. Hypertrophic cardiomyopathy is due to sarcomeric gene mutations, however, phenocopies with myocardial hypertrophy can be due to triplet-repeat syndromes (Friedreich ataxia and myotonic dystrophy), mitochondrial and metabolic diseases. In a peculiar form associated with Wolf-Parkinson-White syndrome, the disease is caused by mutations in the gamma2 regulatory subunit of the AMP-activated protein kinase gene, leading to a glycogen storage cardiomyopathy. In spite of the growing knowledge about the molecular basis of hypertrophic cardiomyopathy, very little is still known about the genotype-phenotype correlations and their clinical implications. In this review, the clinical and molecular genetics of hypertrophic cardiomyopathy are described.
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PMID:Familial hypertrophic cardiomyopathy: clinical features, molecular genetics and molecular genetic testing. 1471 53


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