Hypertrophic Cardiomyopathy and Arrhythmias as Phenotype Spectrum of Emery Dreifuss Muscular Dystrophy: First Case Report in Bahrain

Abstract

Muscular dystrophies are a heterogeneous group of inherited disorders characterized by progressive wasting and weakness of the skeletal muscles. The clinical spectrum ranges from early presentation with severe clinical features in childhood to onset in adulthood with less severe clinical symptoms and slow progression. This frequently raises difficulties in diagnosis. The predominant features may be cardiac, and this may lead to a complex diagnosis. Emery Driefuss Muscular dystrophy (EDMD) is a rare form of limb girdle muscular dystrophy. The prevalence is less than 1:100,000 individuals. The condition may be associated with significant muscular cardiac abnormalities which is responsible for mortality in these patients. The authors describe a case of hypertrophic cardiomyopathy in which limb girdle muscular dystrophy was suspected and subsequently confirmed by genetic studies as part of the phenotypic spectrum of Xlinked EDMD. This is the first diagnosed case of EDMD in Bahrain. Keywords: Bahrain, Hypertrophic Cardiomyopathy, Limb-girdle muscular dystrophies, Muscular dystrophies, Skeletal muscles