My approach to diagnosis of and echocardiographic follow-up for muscular dystrophies

Introduction

Muscular dystrophies (MD) are a group of heterogeneous diseases genetically determined and characterized by progressive muscle atrophy and weakness. Mutations in genes encoding muscle fiber proteins lead to the development of MD. MD types vary by deficient protein, each with its natural history and characteristic clinical presentation. As with other clinical aspects, cardiac involvement is also quite variable. ^,

This article will review the most important aspects of the clinical-echocardiographic follow-up of MD types frequently associated with cardiomyopathies, including dystrophinopathy, limb-girdle muscular dystrophy (LGMD), myotonic dystrophy, and Emery-Dreifuss muscular dystrophy (EDMD).

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