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Skeletal muscle involvement in cardiomyopathies

Limongelli, Giuseppe; D’Alessandro, Raffaella; Maddaloni, Valeria; Rea, Alessandra; Sarkozy, Anna; McKenna, William J.

Journal of Cardiovascular Medicine: December 2013 - Volume 14 - Issue 12 - p 837–861
doi: 10.2459/JCM.0b013e3283641c69
Reviews: Cardiomyopathy

The link between heart and skeletal muscle disorders is based on similar molecular, anatomical and clinical features, which are shared by the ‘primary’ cardiomyopathies and ‘primary’ neuromuscular disorders. There are, however, some peculiarities that are typical of cardiac and skeletal muscle disorders. Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a mitochondrial disease (particularly if encephalopathy, ocular myopathy, retinitis, neurosensorineural deafness, lactic acidosis are present), a storage disorder (progressive exercise intolerance, cognitive impairment and retinitis pigmentosa, as in Danon disease), or metabolic disorders (hypoglycaemia, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities). In such patients, skeletal muscle weakness usually precedes the cardiomyopathy and dominates the clinical picture. Nevertheless, skeletal involvement may be subtle, and the first clinical manifestation of a neuromuscular disorder may be the occurrence of heart failure, conduction disorders or ventricular arrhythmias due to cardiomyopathy. ECG and echocardiogram, and eventually, a more detailed cardiovascular evaluation may be required to identify early cardiac involvement. Paediatric and adult cardiologists should be proactive in screening for neuromuscular and related disorders to enable diagnosis in probands and evaluation of families with a focus on the identification of those at risk of cardiac arrhythmia and emboli who may require specific prophylactic treatments, for example, pacemaker, implantable cardioverter-defibrillator and anticoagulation.

aMonaldi Hospital, Second University of Naples, Naples, Italy

bInstitute of Cardiovascular Science, University College London and The Heart Hospital, University College London Hospitals Trust, London

cInstitute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK

Correspondence to Giuseppe Limongelli, MD, PhD, FAHA, FESC, Monaldi Hospital, Second University of Naples, 80100 Naples, Italy Fax: +39 0817062683; e-mail:

Received 2 September, 2012

Revised 6 May, 2013

Accepted 6 June, 2013

© 2013 Italian Federation of Cardiology. All rights reserved.