Cardiomyopathy in muscular dystrophies

Abstract

Purpose of review: The association of cardiac complications in patients with muscular dystrophies has been known for a long time. However, until recently, the clinical and genetic heterogeneity of these conditions had hampered our abilities to recognize individual disease complications, especially in the rarer forms. Over the years the improved understanding of the molecular defects responsible for several of these forms has also allowed recognition of the associated cardiac complications.

Recent findings: There have been significant new findings regarding the understanding of the type, progression and pathogenesis of the cardiac involvement found in a number of muscular dystrophies. The natural history of cardiac involvement in Emery-Dreifuss muscular dystrophy was described in detail by different studies. Novel non-invasive techniques to assess early cardiac involvement were reported in patients with Duchenne and Becker muscular dystrophies; improved understanding of the pattern and pathogenesis of cardiac involvement of sarcoglycanopathies was reported, together with the description of the cardiac involvement in forms of limb girdle muscular dystrophies secondary to abnormal glycosylation. Therapeutic intervention strategies for each individual condition were also proposed.

Summary: Our understanding of the incidence, type and pathogenesis of the molecular basis for cardiac involvement in different muscular dystrophies has improved significantly over the last year. This has resulted in the proposal of novel therapeutic guidelines that will help the management of patients with muscular dystrophies.