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Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
High incidence of electrocardiogram abnormalities in young patients with duchenne muscular dystrophy
Yuichi Takami1, Yasuhiro Takeshima, Hiroyuki Awano
1Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan. takami@hrc-hp.com
Insights
Electrocardiogram abnormalities are common in Duchenne muscular dystrophy, affecting over 90% of young patients. Deep Q-waves and low RV5 + SV1 are key age-dependent cardiac markers in this condition.
Area of Science:
- Cardiology
- Genetics
- Neuromuscular Disorders
Background:
- Duchenne muscular dystrophy (DMD) is a genetic disorder causing progressive muscle degeneration.
- Cardiac involvement is a known complication of DMD, but extensive electrocardiogram (ECG) data in young patients are limited.
Purpose of the Study:
- To investigate electrocardiogram abnormalities in pediatric patients with Duchenne muscular dystrophy.
- To identify potential age-dependent cardiac markers in DMD patients.
Main Methods:
- Conducted 136 ECG examinations on 69 Duchenne muscular dystrophy patients aged 18 years or younger.
- Analyzed ECG findings in relation to patient age and dystrophin gene mutation patterns.
Main Results:
- Over 91% of patients exhibited one or more ECG abnormalities.
- Deep Q-waves were the most frequent abnormality, particularly in younger adolescent patients (<10 years).
- Incidence of deep Q-waves and low RV5 + SV1 (R-wave V5 + S-wave V1) was significantly higher in adolescent patients, suggesting age-dependent changes.
Conclusions:
- ECG abnormalities in DMD are primarily due to dystrophin deficiency, irrespective of specific gene mutation types.
- Deep Q-waves and low RV5 + SV1 are proposed as reliable markers for age-dependent cardiac complications in Duchenne muscular dystrophy.
Abstract:
Electrocardiogram abnormalities are reported to be complicated in Duchenne muscular dystrophy. Although Duchenne muscular dystrophy can be genetically diagnosed in young patients, extensive electrocardiogram studies have not been reported. Here, electrocardiogram abnormalities were examined in Duchenne muscular dystrophy cases with dystrophin gene mutations. Sixty-nine patients, aged =18 years, received 136 electrocardiogram examinations. Sixty-four patients (91.3%) displayed one or more abnormalities. Furthermore, patients adolescent <10 years (84.8% of patients) displayed electrocardiogram abnormalities, and the most common abnormality was deep Q-waves. Remarkably, the abnormality incidence of both deep Q-waves and low RV5 + SV1 (R-wave V5 + S-wave V1) were significantly high in adolescent patients. Although the patterns or positions of dystrophin gene mutations were compared with electrocardiogram abnormalities, no predisposing mutation was disclosed. These results indicate that electrocardiogram abnormalities in Duchenne muscular dystrophy are a result of dystrophin deficiency, regardless of types of gene mutations. The disease can be divided into two types: age-dependent and age-independent. Deep Q-waves and low RV5 + SV1 are proposed as markers of age-dependent cardiac complications.
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