IMR Press / RCM / Volume 23 / Issue 4 / DOI: 10.31083/j.rcm2304126
Open Access Review
Cardiac Involvement and Arrhythmias Associated with Myotonic Dystrophy
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1 Electrophysiology Section, Division of Cardiology, Ann Arbor, MI 48109, USA
2 Heart Failure Section, Division of Cardiology, University of Michigan, Ann Arbor, MI 48109, USA
3 Neuromuscular Section, Division of Neurology, University of Michigan, Ann Arbor, MI 48109, USA
*Correspondence: (Jackson J. Liang)
Academic Editors: Yoshiaki Kaneko and Petr Ostadal
Rev. Cardiovasc. Med. 2022, 23(4), 126;
Submitted: 5 October 2021 | Revised: 28 December 2021 | Accepted: 10 January 2022 | Published: 2 April 2022
(This article belongs to the Special Issue Clinical Electrophysiology: Diagnosis and Treatment)
Copyright: © 2022 The Author(s). Published by IMR Press.
This is an open access article under the CC BY 4.0 license.

Myotonic dystrophy is an autosomal dominant genetic disease of nucleotide expansion resulting in neuromuscular disease with two distinct subtypes. There are significant systemic manifestations of this condition including progressive muscular decline, neurologic abnormalities, and cardiac disease. Given the higher prevalence of cardiac dysfunction compared to the general population, there is significant interest in early diagnosis and prevention of cardiac morbidity and mortality. Cardiac dysfunction has an origin in abnormal and unstable nucleotide repeats in the DMPK and CNBP genes which have downstream effects leading to an increased propensity for arrhythmias and left ventricular systolic dysfunction. Current screening paradigms involve the use of routine screening electrocardiograms, ambulatory electrocardiographic monitors, and cardiac imaging to stratify risk and suggest further invasive evaluation. The most common cardiac abnormality is atrial arrhythmia, however there is significant mortality in this population from high-degree atrioventricular block and ventricular arrhythmia. In this review, we describe the cardiac manifestations of myotonic dystrophy with an emphasis on arrhythmia which is the second most common cause of death in this population after respiratory failure.

myotonic dystrophy
nucleotide expansion
heart failure
ventricular tachycardia
sudden death
Fig. 1.
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