[Genetics of inherited cardiomyopathies].
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.
Richard
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P
Service de Biochimie Métabolique, UF de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Hôpital de la Pitié-Salpêtrière, AP-HP, 75013 Paris, France. pascale.richard@psl.aphp.fr
Fressart
V
V
Charron
P
P
Hainque
B
B
D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D009202:Cardiomyopathies / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D002313:Cardiomyopathy, Restrictive / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D020732:Cytogenetic Analysis; D016757:Death, Sudden, Cardiac / Q000209:etiology / Q000473:pathology; D003937:Diagnosis, Differential; D005817:Genetic Counseling; D006801:Humans; D025202:Molecular Diagnostic Techniques; D009124:Muscle Proteins / Q000172:deficiency / Q000235:genetics; D010641:Phenotype
D009124:Muscle Proteins