Genetic spectrum of cardiomyopathies with neuromuscular phenotype

Abstract

Neuromuscular disorders are known to be associated with cardiac disease but often the cardiovascular symptoms can be difficult to unravel due to low physical activity in this patient group and thereby low strain on the heart. On the other hand, cardiomyopathy or cardiac arrhythmogenic disease may be the first sign of an underlying neuromuscular disorder. Indeed, of the more than 40 genes that have been found to be associated with different types of cardiomyopathies, 25% also cause neuromuscular disorders as allelic forms. In this review we have elucidated the main genetic disorders involving a combination muscular and cardiac symptoms high-lighting the symptoms and signs specific for each disorder, including dystrophinopathies, laminopathies, myotonic dystrophy, desmin-related myopathy, congenital muscular dystrophies, and limb-girdle muscular dystrophies. The importance to investigate for underlying neuromuscular disorder in patients presenting with cardiomyopathy or cardiac arrhythmogenic disease is emphasized.