[Genetics of hereditary cardiopathies]

Arch Mal Coeur Vaiss. 1996 May;89(5):619-27.
[Article in French]


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.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Cardiomyopathy, Hypertrophic / diagnosis
  • Cardiomyopathy, Hypertrophic / genetics
  • Chromosome Aberrations
  • Chromosome Mapping
  • Down Syndrome / diagnosis
  • Down Syndrome / genetics
  • Genetic Markers
  • Genetic Testing
  • Heart Diseases / diagnosis
  • Heart Diseases / genetics*
  • Humans
  • Long QT Syndrome / diagnosis
  • Long QT Syndrome / genetics
  • Marfan Syndrome / diagnosis
  • Marfan Syndrome / genetics
  • Mutation / genetics
  • Prognosis
  • Risk Factors
  • Syndrome


  • Genetic Markers