A familial dilated cardiomyopathy associated with cataracts and hip-spine disease.
A dilated cardiomyopathy was observed in two generations of a kindred, associated with articular disease and premature cataracts, a unique triad not previously described to our knowledge. The cardiomyopathy was characterized histologically by basophilic PAS-positive granulofilamentous deposits in the myocardium. The articular disease included hip joint degeneration, irregular intervertebral disks, and platyspondyly. The lenticular abnormalities may occur in young adults prior to other manifestations of the triad. Consanguinity was noted in the parents, and inheritance was most compatible with an autosomal recessive trait, with variable penetrance and expressivity.
D000328:Adult; D000368:Aged; D002311:Cardiomyopathy, Dilated / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D002386:Cataract / Q000150:complications* / Q000175:diagnosis; D005260:Female; D006333:Heart Failure / Q000150:complications*; D006621:Hip Joint; D006801:Humans; D007592:Joint Diseases / Q000150:complications* / Q000175:diagnosis; D008297:Male; D008875:Middle Aged; D013131:Spine