Premium
Hereditary inclusion‐body myopathy associated with cardiomyopathy: Report of two siblings
Author(s) -
Chai Yaohui,
Bertorini Tulio E.,
McGrew Frank A.
Publication year - 2011
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21839
Subject(s) - myopathy , medicine , cardiomyopathy , muscular dystrophy , muscle disorder , pathology , cardiology , heart failure
Abstract 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. Muscle Nerve, 2011