FAMILIAL CARDIAC AND SKELETAL MYOPATHY ASSOCIATED WITH DESMIN ACCUMULATION

We describe the case of a mentally retarded young man with marked bive ntricular hypertrophy, skeletal myopathy, and bilateral pes cavus, in whom desmin accumulation was documented in cardiac and skeletal muscle biopsies. Hemodynamic assessment showed a restrictive profile. A brot her of the proband was similarly affected arid died at the age of 24 o f cardiac failure. Sudden death occurred in other six members of this family. Pedigree analysis suggested an X-linked inheritance. This obse rvation and previous reports suggest that desmin accumulation is proba bly less rare than was thought in patients with unexplained hypertroph ic or restrictive cardiomyopathies. Desmin accumulation should be syst ematically searched for in these types of cardiomyopathies, although i ts specificity needs to be investigated in further studies.