Related Experiment Videos
Familial cardiac and skeletal myopathy associated with desmin accumulation
Insights
Desmin accumulation in cardiac and skeletal muscles is linked to a rare X-linked disorder causing hypertrophic cardiomyopathy and muscle disease. This finding suggests desmin myopathy may be underdiagnosed in unexplained cardiomyopathies.
Area of Science:
- Cardiology
- Neurology
- Genetics
Background:
- Cardiomyopathies, particularly hypertrophic and restrictive types, can present with complex phenotypes.
- Genetic factors are crucial in understanding inherited cardiac and neuromuscular disorders.
- Desmin-related myopathies are a group of inherited muscle disorders characterized by desmin accumulation.
Observation:
- A case study of a young man with intellectual disability, biventricular hypertrophy, skeletal myopathy, and pes cavus.
- Muscle biopsies revealed significant desmin accumulation in both cardiac and skeletal muscle tissues.
- Hemodynamic assessment indicated a restrictive cardiac profile.
Findings:
- The proband's family exhibited a pattern suggestive of X-linked inheritance, with multiple affected members experiencing cardiac failure and sudden death.
- Desmin accumulation was confirmed as a key pathological feature in affected individuals.
- The clinical presentation included hypertrophic cardiomyopathy, skeletal myopathy, and neurological deficits.
Implications:
- Desmin accumulation may be a more frequent cause of unexplained hypertrophic or restrictive cardiomyopathies than previously recognized.
- Systematic screening for desmin accumulation is recommended in patients with these cardiac conditions.
- Further research is needed to determine the specificity of desmin accumulation as a diagnostic marker.
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.