Summary
This syndrome is characterized by dilated cardiomyopathy, premature cataract, and articular disease. It has been observed in two generations of one family. The cardiomyopathy was characterized histologically (post-mortem pathologic examination) by basophilic PAS-positive granulofilamentous deposits in the myocardium. The articular disease included hip joint degeneration, irregular intervertebral disks, and platyspondyly. The cataract may occur in young adults prior to other manifestations of the triad. Consanguinity was noted in the parents, and the pattern of inheritance was compatible with an autosomal recessive trait, with variable penetrance and expressivity. *Author: Orphanet (May 2004)*.
