Prevalence of cardiomyopathy in Duchenne and Becker's muscular dystrophy
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Published on: April 10, 2019
Ambreen Sultan1, Mohammad Fayaz
1Department of Human Genetics, Newcastle General Hospital and University of Newcastle Upon Tyne.
Insights
Cardiac involvement is common in Duchenne (DMD) and Becker muscular dystrophy (BMD) patients, often without symptoms. Early cardiac assessment is crucial for managing these Xp21 linked muscular dystrophies.
Area of Science:
- Cardiology
- Neurology
- Genetics
Background:
- Cardiac assessment was not routinely performed in Duchenne (DMD) and Becker muscular dystrophy (BMD) patients despite evidence of progressive cardiomyopathy.
- Growing evidence highlighted the need to investigate cardiac involvement in these patient populations.
Purpose of the Study:
- To determine the prevalence, progression, and clinical features of cardiac involvement in patients with Duchenne and Becker muscular dystrophy.
- To establish the frequency of cardiac issues in Xp21 linked muscular dystrophies.
Main Methods:
- Retrospective review of clinical, electrocardiographic, and echocardiographic assessments.
- Analysis of patient records for 52 individuals with DMD, Intermediate muscular dystrophy (IMD), and BMD.
Main Results:
- 88.4% of DMD and BMD patients showed preclinical or clinically evident cardiac involvement.
- Electrocardiogram abnormalities were present in 88.4%, with conduction defects in 19.4%. Echocardiogram abnormalities were found in 80.7% of patients.
- Most patients were asymptomatic, with only four reporting palpitations; cardiac symptoms were rare.
Conclusions:
- A high percentage of patients with Xp21 linked muscular dystrophy exhibit cardiac involvement, often asymptomatically.
- Routine baseline cardiac assessment is recommended for all patients at age 10, with follow-up assessments every one to two years.
- Early detection and monitoring of cardiac involvement are vital for managing DMD and BMD.
Background:
Cardiac assessment was not done routinely in Duchenne (DMD) and Becker muscular dystrophy (BMD) patients in Northern region of England while evidence was gathering on progressive cardiomyopathy in these patients. We wanted to find out the prevalence, progression and clinical features of cardiac involvement in Duchenne and Becker muscular dystrophy.
Methods:
It is a retrospective review of clinical, electrocardiographic and echocardiographic assessments.
Results:
The notes of 52 Duchenne and Becker muscular dystrophy patients were reviewed out of which 32 had DMD, 6 had Intermediate muscular dystrophy (IMD) and 14 had BMD. Prevalence of preclinical and clinically evident cardiac involvement was 88.4% in DMD and BMD patients. Sixty nine% of patients had clinically evident cardiac involvement but only four patients had cardiac symptoms in the form of palpitations, out of which two were due to respiratory dysfunction and others was due to cardiac failure. Clinical examination of the rest of all of the patients was unremarkable. Electrocardiogram was abnormal in 88.4% of patients. Conduction defects were found in 19.4% of patients. Echocardiogram was abnormal in 80.7% of patients but all were poor echo subjects including those who had normal echocardiogram.
Conclusions:
Though most patients were asymptomatic, a high percentage had evidence of preclinical and clinically evident cardiac involvement. So in all patients with Xp21 linked muscular dystrophy a routine baseline cardiac assessment should be done at the age of 10 years and reviewed after intervals of one to two years.
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