Abstract
Myotonic dystrophy type 1 (DM1), the most common muscular dystrophy affecting adults and children, is a multi-systemic disorder affecting skeletal, cardiac, and smooth muscles as well as neurologic, endocrine and other systems. This review is on the cardiac pathology associated with DM1. The heart is one of the primary organs affected in DM1. Cardiac conduction defects are seen in up to 75% of adult DM1 cases and sudden death due to cardiac arrhythmias is one of the most common causes of death in DM1. Unfortunately, the pathogenesis of cardiac manifestations in DM1 is ill defined. In this review, we provide an overview of the history of cardiac studies in DM1, clinical manifestations, and pathology of the heart in DM1. This is followed by a discussion of emerging data about the utility of cardiac magnetic resonance imaging (CMR) as a biomarker for cardiac disease in DM1, and ends with a discussion on models of cardiac RNA toxicity in DM1 and recent clinical guidelines for cardiologic management of individuals with DM1.
Highlights
Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy affecting adults and children
We found for the first time that antisense oligonucleotides (ASOs) could treat cardiac pathology in DM1 [111]
Ever since the first description of DM1 by Steinert, it was apparent that cardiac pathology in DM1 is very common and can have devastating consequences
Summary
Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy affecting adults and children. DM1 is an autosomal dominant, multi-systemic genetic disorder affecting the skeletal, cardiac and smooth muscles as well as the brain, lens, and endocrine systems [1]. All four categories of DM1 occur in a single family, with increasing severity and earlier age of onset over successive generations. This phenomenon, known as genetic anticipation, was confirmed to be a genuine feature of DM1 by Höweler [4]. There are differences between leukocyte (CTG) repeat size and the significantly larger size of repeats in affected tissues such as skeletal muscle [9]
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