title: Familial cardiac and skeletal myopathy associated with desmin accumulation.
abstract: We describe the case of a mentally retarded young man with marked biventricular 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 brother of the proband was similarly affected and died at the age of 24 of cardiac failure. Sudden death occurred in other six members of this family. Pedigree analysis suggested an X-linked inheritance. This observation and previous reports suggest that desmin accumulation is probably less rare than was thought in patients with unexplained hypertrophic or restrictive cardiomyopathies. Desmin accumulation should be systematically searched for in these types of cardiomyopathies, although its specificity needs to be investigated in further studies.
authors.affiliation: Divisione di Cardiologia, Ospedale San Michele, Cagliari, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Porcu
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
authors.forename: G
authors.initials: G
authors.lastname: Catani
authors.forename: D
authors.initials: D
authors.lastname: Mereu
mesh_terms: D000328:Adult; D009202:Cardiomyopathies / Q000235:genetics* / Q000378:metabolism*; D003893:Desmin / Q000032:analysis / Q000378:metabolism*; D005260:Female; D005530:Foot Deformities / Q000473:pathology; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism*; D010375:Pedigree; D014960:X Chromosome
chemical_list: D003893:Desmin