Hereditary muscular dystrophies and the heart

• Published in: Neuromuscular disorders : NMD Vol. 20; no. 8; pp. 479 - 492
• Main Authors: Hermans, M.C.E, Pinto, Y.M, Merkies, I.S.J, de Die-Smulders, C.E.M, Crijns, H.J.G.M, Faber, C.G
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.08.2010
• Subjects: Arrhythmia; Cardiomyopathy; Cardiomyopathy, Dilated - genetics; Cardiomyopathy, Dilated - pathology; Genetic Diseases, X-Linked - genetics; Genetic Diseases, X-Linked - pathology; Heart Diseases - etiology; Heart Diseases - pathology; Heterozygote; Humans; Muscular Dystrophies - complications; Muscular Dystrophies - congenital; Muscular Dystrophies - genetics; Muscular Dystrophies - pathology; Muscular Dystrophies - therapy; Muscular Dystrophies, Limb-Girdle - genetics; Muscular Dystrophies, Limb-Girdle - pathology; Muscular dystrophy; Muscular Dystrophy, Duchenne - complications; Muscular Dystrophy, Duchenne - genetics; Muscular Dystrophy, Duchenne - pathology; Muscular Dystrophy, Emery-Dreifuss - genetics; Muscular Dystrophy, Emery-Dreifuss - pathology; Muscular Dystrophy, Facioscapulohumeral - genetics; Muscular Dystrophy, Facioscapulohumeral - pathology; Myocardium - pathology; Myofibrils - pathology; Myotonic Dystrophy - genetics; Myotonic Dystrophy - pathology; Neurology; Sudden death; Treatment; Treatment; Arrhythmia; Cardiomyopathy; Sudden death; Muscular dystrophy
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/j.nmd.2010.04.008

Summary Cardiac disease is a common clinical manifestation of neuromuscular disorders, particularly of muscular dystrophies. Heart muscle cells as well as specialized conducting myocardial fibres may be affected by the dystrophic process. The incidence and nature of cardiac involvement vary with different types of muscular dystrophies. Some mainly lead to myocardial disease, resulting in cardiomyopathy and heart failure, while others particularly affect the conduction system, leading to arrhythmias and sudden death. As prognosis of muscular dystrophy patients may be directly related to cardiac status, surveillance and timely management of cardiac complications are important. However, recognition of cardiac involvement requires active investigation and remains challenging since typical signs and symptoms of cardiac dysfunction may not be present and progression is unpredictable. In this review, we present a comprehensive overview of hereditary muscular dystrophies associated with cardiac disease to provide an efficient strategy for the expertise and management of these diseases.