title: [Inherited metabolic cardiomyopathies].
abstract: 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
authors.affiliation: Centre de référence de la maladie de Fabry et des maladies héréditaires du tissu conjonctif (syndromes d'Ehlers-Danlos et pseudoxanthome elastique), Assistance Publique-Hôpitaux de Paris, Paris (75), France. dominique.germain@egp.aphp.fr
authors.forename: Dominique P
authors.initials: DP
authors.lastname: Germain
authors.forename: Ales
authors.initials: A
authors.lastname: Linhart
authors.forename: Michel
authors.initials: M
authors.lastname: Desnos
authors.forename: Alain A
authors.initials: AA
authors.lastname: Hagège
mesh_terms: D055372:AMP-Activated Protein Kinases; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D006801:Humans; D009097:Multienzyme Complexes / Q000235:genetics; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics
chemical_list: D009097:Multienzyme Complexes; D017346:Protein Serine-Threonine Kinases; D055372:AMP-Activated Protein Kinases