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Updated: Jun 3, 2026

Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Prevalence and Characteristics of Cardiac Arrhythmia in Duchenne Muscular Dystrophy: A Retrospective, Single-Center
Ryo Sugiyama1, Eri Takeshita1, Yu Aihara1
1Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Insights
Nonsustained ventricular tachycardia (NSVT) is a risk in Duchenne muscular dystrophy (DMD) patients, particularly those with reduced left ventricular function. Regular Holter monitoring is recommended for high-risk individuals to prevent sudden cardiac death.
Area of Science:
- Cardiology
- Neurology
- Genetics
Background:
- Cardiac complications are a leading cause of death in Duchenne muscular dystrophy (DMD).
- Current guidelines recommend arrhythmia screening in DMD patients with left ventricular dysfunction, but evidence is limited.
- Large cohort studies including adult DMD patients are scarce.
Purpose of the Study:
- To characterize the arrhythmia profiles in a large cohort of Duchenne muscular dystrophy patients.
- To identify factors associated with arrhythmias, particularly nonsustained ventricular tachycardia (NSVT).
Main Methods:
- Analysis of 1018 Holter electrocardiographic recordings from 167 DMD patients (aged 9-44 years).
- Logistic regression was used to identify factors associated with NSVT.
Main Results:
- Bradyarrhythmia and supraventricular tachyarrhythmia were infrequent.
- Nonsustained ventricular tachycardia (NSVT) was detected in 8.3% of recordings.
- Reduced left ventricular function was the strongest predictor of NSVT, with increased risk associated with older age and nonuse of ventilation.
Conclusions:
- NSVT poses a risk for sudden cardiac death in DMD patients with cardiac disease.
- Regular Holter electrocardiographic monitoring is crucial for identifying high-risk patients.
- Further research is needed to refine screening protocols for cardiac arrhythmias in DMD.
Background:
In Duchenne muscular dystrophy (DMD), cardiac causes account for approximately 30% of all deaths. Therefore, evaluating cardiac function in older patients is important. In addition, current recommendations advise screening for arrhythmias when left ventricular dysfunction is identified; however, the evidence base underpinning this recommendation in DMD is limited. Furthermore, large-scale cohort studies with substantial adult representation are lacking.
Methods:
To characterize arrhythmia profiles of patients with DMD, we analyzed 1018 Holter electrocardiographic recordings from 167 patients with DMD (age: 9-44 years).
Results:
Bradyarrhythmia and supraventricular tachyarrhythmia were rare; nonsustained ventricular tachycardia (NSVT) and ≥ 720 premature ventricular complexes per 24 h were detected in 85 (8.3%) and 124 (12.2%) recordings, respectively. Logistic regression identified reduced left ventricular function as the strongest associated factor for NSVT. Although statistically nonsignificant, risk increased with age, nonuse of noninvasive positive-pressure ventilation, and a Dp140-deficient genotype. A Dp116-deficient genotype was associated with lower odds of NSVT.
Conclusions:
Given that NSVT may trigger sudden cardiac death in susceptible patients with underlying cardiac disease, regular Holter electrocardiographic monitoring is warranted in patients at high risk of NSVT.
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