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Myocardial disease
Mechanisms and management of the heart in myotonic dystrophy
  1. Elizabeth M McNally1,2,
  2. Dina Sparano1
  1. 1Department of Medicine, Section of Cardiology, The University of Chicago, Chicago, Illinois, USA
  2. 2Department of Human Genetics, The University of Chicago, Chicago, Illinois, USA
  1. Correspondence to Professor Elizabeth McNally, The University of Chicago, 5841 South Maryland Avenue, MC 6088, Chicago, IL 60637, USA; emcnally{at}uchicago.edu

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Muscular dystrophy is a genetically diverse group of disorders that can affect both children and adults. Many forms of muscular dystrophy have significant cardiac manifestations. The most common cardiac consequences in muscular dystrophy are cardiomyopathy and arrhythmias. Correct identification of the genetic subtype of muscular dystrophy is critical for proper care since it determines the degree to which a cardiologist should be involved in the care of the patient. Cardiomyopathy and arrhythmias often develop later in the course of disease so cardiac management of the neuromuscular patient often falls within the remit of the adult cardiologist. However, since early treatment can be effective at slowing the progress of disease, prepathologic treatment and surveillance for arrhythmias may fall under the paediatric cardiologist. The myotonic dystrophies represent a subset of inherited muscular dystrophy disorders. Myotonic dystrophy, or dystrophia myotonica (DM), is a multisystem disease, and the cardiovascular defects may be disabling and life threatening. DM is dominantly inherited, so it is not uncommon that multiple family members of different generations are afflicted with the disorder. Cardiac involvement is prevalent in DM and accounts for approximately one third of the deaths in this population.1 2 This article discusses the recommendations for screening and risk stratification of cardiac complications in the DM population.

The myotonic dystrophies

Brief overview

DM not only affects cardiac and skeletal muscle, but also manifests in the endocrine, ocular, gastrointestinal, and nervous systems. Myotonia, or delay in relaxation of muscle contraction, is a hallmark feature of DM. Myotonia can be elicited on physical examination as grip myotonia or with percussion. In addition to myotonia, patients develop progressive muscle weakness and wasting. Involvement of the respiratory musculature often develops as a late stage of disease and is life threatening.3 Endocrine abnormalities include hypogonadism and insulin resistance. Cataracts are common and typically are characterised by …

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