title: Familial mitral valve prolapse and myotonic dystrophy.
abstract: When a patient with mitral valve prolapse was found to have myotonic dystrophy, his family was studied to ascertain the occurrence of these abnormalities. Of 25 relatives screened, 8 had evidence of both myotonic dystrophy and mitral valve prolapse and 2 had evidence of myotonic dystrophy alone. Thirteen patients had evidence of neither condition and 1 had mitral valve prolapse alone. The association of these two conditions within a family has not previously been observed and valvular heart disease has not been recognized in myotonic dystrophy. This association should be looked for in other patients.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D009202:Cardiomyopathies / Q000150:complications / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008944:Mitral Valve Insufficiency / Q000209:etiology / Q000235:genetics*; D009223:Myotonic Dystrophy / Q000150:complications* / Q000235:genetics; D010375:Pedigree