Muscular Dystrophies Affecting the Heart

Abstract

– Emery-Dreifuss muscular dystrophy is a rare X-linked recessive disease manifested by early contracture, progressive musclewasting, and cardiomyopathy with cardiac arrhythmias. Males are primarily affected.– Hypertrophic cardiomyopathy is an autosomal dominant inherited disease caused mostly by mutations in sarcomeric proteins,notably the heavy chain of myosin, a tropomyosin, and cardiac troponin T.– Duchenne’s muscular dystrophy is an X-linked recessive myopathy of childhood caused by mutation of the dystrophia gene. Weaknessbeginning within the first 5 years of life progresses to the loss of ability to walk independently by early in the seconddecade and often death by the third decade. Serum creatine kinase (CK) levels are markedly elevated early in life. Cardiacinvolvement leads to congestive heart failure (CHF), and patients also have restrictive pulmonary disease.– Myotonic dystrophy is the most common adult-onset myopathy and is inherited as autosomal dominant and is characterized byprogressive muscle weakness, cardiomyopathy, delayed muscle relaxation, cataracts, frontal balding, diabetes mellitus, andmale infertility.