Idiopathic familial myocardiopathy in three generations: a clinical and pathologic study.
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.
D000293:Adolescent; D000328:Adult; D001145:Arrhythmias, Cardiac / Q000150:complications; D009202:Cardiomyopathies / Q000235:genetics* / Q000473:pathology; D003645:Death, Sudden; D004695:Endocardial Fibroelastosis / Q000150:complications; D005260:Female; D006352:Heart Ventricles / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D008944:Mitral Valve Insufficiency / Q000150:complications; D009206:Myocardium / Q000473:pathology*; D010375:Pedigree; D012737:Sex Factors