[Genetics of hereditary cardiopathies].
Hypertrophic cardiomyopathy may be secondary to a mutation in the cardiac beta myosin heavy chain (14q11-q12), alpha tropomyosin (15q22), troponin T (1q32), protein C gene (11p11-q13) or in a non yet mapped gene. A X-linked dilated cardiomyopathy may be due to a mutation in the dystrophin gene (Xp21). The long QT syndrome may be secondary to a mutation in a potassium channel (7q35-36), an alpha subunit of the sodium channel gene (3p21) or in genes not yet identified (11p15.5, 4q25-q27). Marfan syndrome is associated to mutations in the fibrillin 1 gene (15q21.1) and a Marfan-like syndrome with not ocular anomalies was mapped to 3p24. Patients with Williams-Beuren syndrome have microdeletions in 7q11, whereas in the supravalvular aortic stenosis, the elastin gene which maps to the same region, is mutated. In Di George and Shprintzen syndromes but not in conotruncal malformations, microdeletions in 22q11 are observed. Heterotaxia can be transmitted by 3 types of mendelian inheritance (Xq24-q27.1). Finally, other diseases were mapped: Noonan and Holt-Oram syndromes (12q), isolated conduction blocks (19q13.3), arrhythmogenic right ventricular cardiomyopathy (14q23-q24), total anomalous pulmonary venous return (4p13-q12) and Osler-Weber-Rendu (9q33-q34.1, 3p22 and 12q1). In the near future, these incoming data will deeply modify the cardiovascular field.
Debrus
S
S
CRBM, CNRS UPR 9008 et INSERM U249, Montpellier.
de Meeus
A
A
Jean
M K
MK
Bouvagnet
P
P
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000235:genetics; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D004314:Down Syndrome / Q000175:diagnosis / Q000235:genetics; D005819:Genetic Markers; D005820:Genetic Testing; D006331:Heart Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008133:Long QT Syndrome / Q000175:diagnosis / Q000235:genetics; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics; D009154:Mutation / Q000235:genetics; D011379:Prognosis; D012307:Risk Factors; D013577:Syndrome
D005819:Genetic Markers
Génétique des cardiopathies héréditaires.