Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hypertrophic cardiomyopathies have an estimated prevalence of 1/500. The analysis of the genes coding for the 10 most commonly involved sarcomeric proteins, fails to detect a mutation in about one third of cases. In some of these cases, cardiomyopathy can be attributed to a genetics storage disease with enlarged glycogen vacuolss (PRKAG2 deficiency, Danon disease, Pompe disease) and/or lysosomol vacuoles (Donon disease, Pompe disease, Fabry disease). These diseases all have in common a short PR interval. PRKAG2 deficiency is due to a dominant mutation of the gamma2 subunit of the cardiac AMP kinose. It leads to a storage cardiomyopathy which may be associated with sudden death in 10% of cases, due to ventricular arrhythmia or auriculoventricular blocks. Danon disease is an X-linked dominant inherited disease characterized by cardiomyopathy, squeletal myopathy and mental retardation. Cardiac transplantation is indicated in both affected men and women. In the infantile form of Pompe disease, enzyme replacement therapy with olglucosidase alpha shows efficacy on cardiac failure with a significant regression of ventricular hypertrophy on ECG, echocardiography and radiography
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PMID:[Inherited metabolic cardiomyopathies]. 1754 68

Hypertrophic cardiomyopathies represent a heterogeneous group of pathophysiological mechanisms and etiologies (genetic or not), which lead to the development of left ventricular hypertrophy. Left ventricular hypertrophy, when not explained by a significant and prolonged increase in post-load (such as severe poorly controlled arterial hypertension or severe aortic stenosis) justifies etiological exploration. The etiology may range from physiological adaptation in the athlete to myocardial involvement, isolated or integrated as part of a global neuromuscular involvement; metabolic or mitochondrial disease to deposition disease. As cardiac signs are non-specific, the clinical examination should focus on looking for a syndromic entity. Considering this pathophysiological heterogeneity, in addition to the biological assays in search of a metabolic or infiltrative cause, the minimum check-up must include an electrocardiogram and a transthoracic echocardiography, which will most of the time be completed by magnetic resonance imaging, and even bone scintigraphy in the event of suspected amyloidosis. The question of genetic analysis and/or counselling should be systematically considered. The treatment is mainly symptomatic, aimed at controlling congestive signs and/or intraventricular obstruction, with the exception of amyloidosis and Fabry disease for which dedicated treatments have been developed. The rhythmic risk must be evaluated and can justify the implantation of an automatic defibrillator.
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PMID:[Hypertrophic cardiomyopathies]. 3073 54