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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hypertrophic cardiomyopathy (HCM) is an inherited form of heart disease that affects 1 in 500 individuals. Here it is shown that calcineurin, a calcium-regulated phosphatase, plays a critical role in the pathogenesis of HCM. Administration of the calcineurin inhibitors cyclosporin and FK506 prevented disease in mice that were genetically predisposed to develop HCM as a result of aberrant expression of tropomodulin, myosin light chain-2, or fetal beta-tropomyosin in the heart. Cyclosporin had a similar effect in a rat model of pressure-overload hypertrophy. These results suggest that calcineurin inhibitors merit investigation as potential therapeutics for certain forms of human heart disease.
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PMID:Prevention of cardiac hypertrophy in mice by calcineurin inhibition. 973 19

The clinical and pathological findings of three patients with hamartomas of mature cardiac myocytes resembling localized hypertrophic cardiomyopathy are presented. Hypertrophic cardiomyopathy is manifest by a poorly demarcated area of cardiac hypertrophy, microscopically demonstrating myofiber disarray and intramural coronary thickening. Localized, nonencapsulated masses of hypertrophied cardiac myocytes in locations other than the left ventricle or ventricular septum have not been reported. The clinical and pathological data of three patients with localized hamartomas were retrospectively retrieved. The patients were 9, 22, and 28 years old, respectively; none had a known family history of heart disease or cardiomyopathy. Two patients had cardiac arrhythmias: one patient died suddenly, and one patient had the Wolff-Parkinson-White syndrome. The third patient was asymptomatic. Two patients treated surgically had single masses in the right atrium and right ventricle, respectively. The patient who died suddenly had multiple discrete masses throughout the atrial and ventricular myocardium, including the left ventricular free wall. None of the three patients had septal asymmetry suggestive of hypertrophic cardiomyopathy. Histologically, there were discrete but unencapsulated nodules of marked myocyte hypertrophy with disorganization, focal scarring, and thickened intramural arteries. There was no myocyte vacuolization suggestive of cardiac rhabdomyoma. Ultrastructurally, the myocytes showed abundant and disorganized myofilaments and normal intercellular junctions. Hamartoma of mature cardiac myocytes is a previously undescribed cardiac tumor that shares some features of hypertrophic cardiomyopathy and rhabdomyoma, but is currently best considered a separate entity.
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PMID:Hamartoma of mature cardiac myocytes. 974 5

Hypertrophic cardiomyopathy (HCM) is the most common form of feline heart disease. Affected cats have concentrical or asymmetrical left ventricular hypertrophy without an identifiable cause. Although many diseases can cause concentrical left ventricular hypertrophy, the term hypertrophic cardiomyopathy is used here exclusively to refer to the idiopathic disease.
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PMID:Therapy of feline hypertrophic cardiomyopathy. 1009 48

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

Hypertrophic cardiomyopathy - a genetically transmitted cardiac disorder - has diverse clinical, pathological and molecular manifestations. Echocardiography is the most reliable tool for clinical diagnosis of hypertrophic cardiomyopathy. Reduction of the intraventricular pressure gradient and improvement of symptoms are major objectives of all therapeutic strategies. The recently introduced concept of catheter-based interventional treatment involves selective coronary perforator branch injection of 96% ethanol to reduce septal thickness, left ventricular outflow obstruction, left ventricular filling pressure and symptoms. The long term morphological features after medical ablation are presented for the first time and compared with both the echocardiographic findings and the findings reported in the English-language literature. The findings show that injection of ethanol into the perforator branch is associated with a fairly localized area of myocardial scarring.
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PMID:Myectomy for hypertrophic obstructive cardiomyopathy after failed alcohol septal ablation: clinicopathological correlations. 1170 38

Hypertrophic cardiomyopathy is a familial cardiac disorder with heterogeneous expression and a diversity of morphological, functional and clinical features. Some individuals with hypertrophic cardiomyopathy may be asymptomatic while others are disabled by symptoms of angina and breathlessness. This article summarizes the genetics, pathophysiology and present management of this important condition.
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PMID:Current management of hypertrophic cardiomyopathy. 1123 21

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 (HCM), a common primary cardiac disorder with an increased risk of sudden death, affects all population groups in South Africa. Distinct causal mutations in multiple sarcomeric protein-encoding genes correlate with the risk of sudden death. Such genotype/phenotype correlations cannot be extrapolated geographically or ethnically, necessitating the generation of South African-specific data. We used DNA-based techniques to search for the causal mutations in a panel of South African HCM-affected subjects (37 with unequivocal HCM, 47 with HCM-like disease). Mutations detected were traced in family members and carriers assessed by echocardiography and electrocardiography. Nine different HCM-causing mutations (5 unique to South Africa, 3 showing a founder effect) were identified in 3 genes in 24 index cases (57% HCM group, 6% HCM-like group). The different mutations were associated with variable hypertrophy, independent of the risk of sudden death. The disease was generally familial and many at-risk mutation carriers did not meet clinical diagnostic criteria for HCM. Rigorous diagnosis of index cases facilitates detection of causal mutations, which allows for unequivocal DNA-based diagnosis of at-risk family members, regardless of age or clinical status. This permits focused patient management, informed prognostication and realistic counselling for this insidious disease, as well as time and cost savings.
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PMID:Hypertrophic cardiomyopathy repealing tenets in South Africa. 1144 80

Hypertrophic cardiomyopathy is an inherited cardiac disorder. Sudden cardiac death frequently occurs in otherwise healthy individuals, and accounts for nearly 35% of all sudden deaths within this age group. Although symptoms occur commonly, they often go unreported. Despite this, a degree of functional limitation is often seen on objective assessment. Management of hypertrophic cardiomyopathy is aimed at relieving symptoms, identifying and treating those individuals at increased risk of sudden death, and screening family members.
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PMID:Hypertrophic cardiomyopathy: management issues in the new millennium. 1196 May 92

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


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