Key result
Hereditary inclusion-body myopathy is linked to echocardiogram-confirmed cardiomyopathy ~20 years after disease onset.
Why the study?
Previous reports of hereditary inclusion-body myopathy (HIBM) or distal myopathy with rimmed vacuoles (DMRV) revealed exclusive involvement of skeletal muscles without cardiomyopathy.
Case Report (n=2)
This case report provides the first evidence of an association between hereditary inclusion-body myopathy (HIBM/DMRV) and the development of cardiomyopathy.
Hereditary inclusion-body myopathy (HIBM) or distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive disorder characterized by preferential involvement of distal muscles in the lower extremities, especially the anterior compartment of the legs, with relative preservation of the quadriceps.This is referred to as quadriceps-sparing myopathy. Previous reports have revealed exclusive involvement in skeletal muscles. Herein we describe two siblings with typical HIBM/DMRV. The patients developed exertional dyspnea 20-26 years after disease onset. Echocardiogram revealed a cardiomyopathy in both patients. This is the first report of the association between HIBM/DMRV and cardiomyopathy.
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Chai et al. (2010) conducted a case report in Hereditary inclusion-body myopathy (HIBM) / distal myopathy with rimmed vacuoles (DMRV) (n=2). Hereditary inclusion-body myopathy (HIBM) was evaluated on Cardiomyopathy. Two siblings with hereditary inclusion-body myopathy (HIBM) developed exertional dyspnea and echocardiogram-confirmed cardiomyopathy 20-26 years after disease onset.
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