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Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy
E M Hoogerwaard1, P A van der Wouw, A A Wilde
1Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands. e.hoogerwaard@amc.uva.nl
Insights
Cardiac abnormalities are common in carriers of Duchenne (DMD) and Becker (BMD) muscular dystrophy. Regular cardiological evaluation is crucial for early detection and management of potential heart complications in these individuals.
Area of Science:
- Cardiology
- Genetics
- Neuromuscular Disorders
Background:
- Duchenne (DMD) and Becker (BMD) muscular dystrophies are X-linked neuromuscular disorders caused by mutations in the DMD gene.
- Cardiac involvement is a known complication in male patients with DMD and BMD, but data on carriers is less extensive.
- Understanding cardiac manifestations in carriers is essential for genetic counseling and clinical management.
Purpose of the Study:
- To determine the frequency of electrocardiographic (ECG) and echocardiographic abnormalities in DMD and BMD carriers.
- To establish the prevalence of dilated cardiomyopathy among these carriers.
- To investigate potential associations between cardiac abnormalities, specifically dilated cardiomyopathy, and the specific genotype.
Main Methods:
- A cross-sectional study involving 129 DNA-proven carriers of DMD and BMD, aged 18-60 years.
- Participants underwent a comprehensive cardiological evaluation including medical history, physical examination, ECG, and echocardiography (2D and M-mode).
- Data was collected from carriers identified through the central register at the department of Human Genetics in Leiden.
Main Results:
- 47% of carriers exhibited ECG changes, and 36% had echocardiographic abnormalities, with higher rates in DMD carriers (41% ECG, 38% echo) compared to BMD carriers (27% ECG, 34% echo).
- Dilated cardiomyopathy was diagnosed in 8% of DMD carriers, while none of the BMD carriers presented with this condition.
- Left ventricle dilatation was observed in 19% of DMD carriers and 16% of BMD carriers; only 38% of all carriers had completely normal cardiac investigations. No genotype-associated cardiac manifestations were found.
Conclusions:
- Cardiac involvement is a significant aspect of dystrophinopathies, affecting a substantial proportion of DMD and BMD carriers.
- Genetic counseling for carriers should include information about the increased risk of cardiac complications.
- A one-time comprehensive cardiological evaluation is recommended for all carriers, with yearly follow-up for those with left ventricle dilatation or dilated cardiomyopathy to enable timely therapeutic intervention.
Abstract:
A cross-sectional study in a cohort of DNA proven carriers of Duchenne (DMD) and Becker (BMD) muscular dystrophy was undertaken with the following objectives: (1) to estimate the frequency of electrocardiographic (ECG) and echocardiographic abnormalities; (2) to establish the proportion of carriers with dilated cardiomyopathy and (3) to assess possible associations between dilated cardiomyopathy and genotype. One hundred and twenty nine DMD and BMD carriers, aged 18-60 years, were traced through the files of the central register kept at the department of Human Genetics in Leiden. Investigations included full medical history, physical examination, ECG and two-dimensional and M-mode echocardiographic examination. Forty-seven percent had ECG changes. Thirty-six percent (DMD 41%, BMD 27%) had at least one abnormality as is usually found in the male patients. Echocardiographic examination was abnormal in 36% (DMD 38%, BMD 34%). Dilated cardiomyopathy was found in seven DMD carriers (8%), and in none of BMD carriers. In addition, 18% had left ventricle dilatation (DMD 19%, BMD 16%). Only 38% had a completely normal investigation of the heart. We found no association between genotype and cardiac manifestations. Our study underlines that cardiac involvement is part of the dystrophinopathies. Carriers should be told about the increased risk of this complication when asking genetic advice. It also implicates that a complete cardiological evaluation should be performed at least once in all carriers. If left ventricle dilatation or dilated cardiomyopathy is present a yearly follow up is needed, in order to start timely therapy.