Myotonic dystrophy and the heart: A systematic review of evaluation and management

doi:10.1016/j.ijcard.2015.03.069

International Journal of Cardiology

Volume 184, 1 April 2015, Pages 600-608

https://doi.org/10.1016/j.ijcard.2015.03.069 Get rights and content

Highlights

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The most common cardiac manifestations of myotonic dystrophy are due to conduction system disease
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Cardiac disease is responsible for 30% of deaths in patients with myotonic dystrophy
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The 12 lead electrocardiogram is the most useful risk stratification tool for predicting sudden death
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Proactive treatment of patients with evidence of conduction system disease with pacing improves outcomes

Abstract

Myotonic dystrophy (MD) is a multisystem, autosomal dominant disorder best known for its skeletal muscle manifestations. Cardiac manifestations arise as a result of myocardial fatty infiltration, degeneration and fibrosis and present most commonly as arrhythmias or conduction disturbances. Guidelines regarding the optimal cardiac management of patients with MD are lacking. The present article provides a summary of the pathophysiology of cardiac problems in patients with MD and provides a practical approach to contemporary cardiac monitoring and management of these patients with a focus on the prevention of complications related to conduction disturbances and arrhythmias.

Methods: A literature search was performed using PubMed and Medline. The keywords used in the search included “myotonic dystrophy”, “cardiac manifestations”, “heart”, “arrhythmia”, “pacemaker” and “defibrillator”, all terms were used in combination. In addition, “myotonic dystrophy” was searched in conjunction with “electrophysiology”, “electrocardiogram”, “echocardiograph”, “signal averaged electrocardiograph”, “magnetic resonance imaging” and “exercise stress testing”. The titles of all the articles revealed by the search were screened for relevance. The abstracts of relevant titles were read and those articles which concerned the cardiac manifestations of myotonic dystrophy or the investigation and management of cardiac manifestations underwent a full manuscript review.

Introduction

Myotonic dystrophy (MD) is the most common inherited muscular dystrophy in adulthood with an incidence of 1 in 8000 [1]. Cardiac involvement is an important cause of premature death in these patients. Despite being relatively common, guidelines regarding optimal investigation, management and follow-up of cardiac issues, particularly in asymptomatic patients with MD are lacking. The aim of this study was to comprehensively review the literature regarding cardiac manifestations of MD and to propose an evidence-based protocol for investigation, management and follow-up of asymptomatic cardiac abnormalities with a focus on arrhythmic manifestations.

Section snippets

Genetic basis

The genetic basis of MD type 1 is a mutational expansion of cytosine, thymine, guanine (CTG) repeats in the 3′ untranslated region of the Myotonic Dystrophy Protein Kinase (MDPK) gene, a serine–threonine protein kinase on chromosome 19. A normal allele contains between 5 and 35 repeats whereas alleles in patients with MD type 1 may contain up to 4000 CTG repeats. The disease is transmitted across generations in an autosomal dominant fashion with incomplete penetrance, variable phenotypic

Clinical cardiac manifestations

The early stages of cardiac involvement in MD are typically clinically silent. Phenotypic variability results in a wide spectrum of clinical manifestations even amongst members of the same family [24].

Clinical investigations

The management of overt cardiac manifestations does not differ significantly from patients without neuromuscular disorders. For example, pacemakers should be implanted in patients with symptomatic bradycardia as well as asymptomatic high-grade (type II and complete) atrioventricular heart block. Likewise, defibrillators should be considered in patients with documented sustained ventricular arrhythmias [53] according to their overall prognosis from the MD.

However, the risk stratification and the

Evidence for pacing and defibrillator implantation

There has been general support for early treatment of conduction disease in MD patients with pacemaker implantation. Age > 40 and significant ECG abnormalities are independent predictors of pacemaker implantation in these patients [28]. While the management of patients who are symptomatic or patients who have documented arrhythmias should not differ greatly from patients without MD, it appears that prophylactic implantation of pacemakers in patients with MD and high risk characteristics leads to

Recommendations and conclusions

Based on the available literature, we recommend a practical approach to cardiac investigation with the aim of efficiently identifying those patients with MD at risk of sudden death who would have a prognostic benefit from device implantation (Fig. 2). Furthermore, a multidisciplinary approach is advisable to ensure appropriate patient selection [53], [54].

All patients should undergo regular clinical evaluation, ECG, Holter monitoring and echocardiography. Pacemaker implantation should be

Conflict of interest

The authors report no relationships that could be construed as a conflict of interest.

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