Idiopathic Familial Myocardiopathy in Three Generations: A Clinical and Pathologic Study

Am Heart J. 1978 Aug;96(2):170-8. doi: 10.1016/0002-8703(78)90082-0.


A peculiar non-hypertrophic myocardiopathy is described which occurred in three and possibly five generations of a single family. Clinical features included systolic murmurs, electrocardiographic abnormalities, and sudden cardiac death with a paucity of symptoms of cardiac dysfunction. Pathological studies in three generations showed a striking similarity of cardiac findings including globular and dilated ventricles, endocardial fibroelastosis, and mitral valve thickening. Myocardium in two showed basophilic degeneration and fibrosis. A retrospective genealogic analysis and a prospective clinical evaluation of living family members suggested an autosomal dominant mode of inheritance with variable penetrance. The cause of this heritable myocardiopathy is presumably a mutant gene; the biochemical defect to which the mutant gene gives rise remains unknown.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Arrhythmias, Cardiac / complications
  • Cardiomyopathies / genetics*
  • Cardiomyopathies / pathology
  • Death, Sudden
  • Endocardial Fibroelastosis / complications
  • Female
  • Heart Ventricles / pathology
  • Humans
  • Male
  • Middle Aged
  • Mitral Valve Insufficiency / complications
  • Myocardium / pathology*
  • Pedigree
  • Sex Factors