Sudden cardiac death in dilated cardiomyopathy and skeletal muscular dystrophy

Skeletal Muscular Dystrophies are a heterogeneous group of neuromuscular disorders, that have a hereditary origin and all cause muscle weakness. Over the past decades, the enigmatic pathogenic origins of most common forms of skeletal muscular dystrophy have been defined. The identification of causative genes made it possible to differentiate between the different forms of muscular dystrophy. Since the identification of the genetic origins of the different muscular dystrophy forms, it has become apparent that a significant overlap exists between muscular dystrophy and cardiac abnormalities, in particular dilated cardiomyopathy. Although neurological and cardiac abnormalities may occur as isolated disorders, cardiac abnormalities often occur in association with skeletal muscular dystrophy, with genetic defects involving the sarcolemma, sarcomere, sarcoplasm and nuclear membrane. The type and extent of cardiac manifestation are specific to the type of skeletal muscular dystrophy, and varies from mild to severe heart failure or sudden cardiac death. Therefore, in most individuals with skeletal muscular dystrophies (early) cardiac evaluation is essential.