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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
Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy
S M Schade van Westrum1, E M Hoogerwaard, L Dekker
1Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.
Insights
Cardiac abnormalities in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) carriers are progressive. Long-term follow-up revealed developing dilated cardiomyopathy (DCM) in these individuals, mirroring patient progression.
Area of Science:
- Cardiology
- Genetics
- Neuromuscular Disorders
Background:
- Dystrophin mutations cause Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD).
- Cardiac involvement is known in DMD/BMD carriers, but long-term progression is unclear.
Purpose of the Study:
- To describe the long-term follow-up of dilated cardiomyopathy (DCM) in carriers of DMD/BMD mutations.
- To assess the progression of cardiac abnormalities in this population.
Main Methods:
- A longitudinal study of 99 Dutch DMD/BMD carriers, initially assessed in 1995.
- Cardiac history, functional scoring, electrocardiography, echocardiography, and spirometry were performed.
- DCM defined by enlarged left ventricle with global dysfunction or fractional shortening <28%.
Main Results:
- Median follow-up was 9 years.
- Eleven carriers (10 DMD, 1 BMD) developed DCM during the study period.
- DCM was more prevalent in functionally symptomatic carriers.
Conclusions:
- Cardiac abnormalities in DMD/BMD carriers are progressive.
- This progression mirrors that seen in patients with DMD/BMD.
Objectives:
Cardiac involvement has been reported in carriers of dystrophin mutations giving rise to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). The progress of these abnormalities during long-term follow-up is unknown. We describe the long-term follow-up of dilated cardiomyopathy (DCM) in DMD/BMD carriers.
Methods:
A long-term follow-up study was performed among Dutch DMD/BMD carriers first analyzed in 1995. A cardiac history was taken, and all carriers were assigned a functional score to assess skeletal muscle involvement. Electrocardiography and M-mode and 2-D echocardiography were performed. DCM was defined as an enlarged left ventricle with a global left ventricle dysfunction or fractional shortening less than 28%. Slow vital capacity of the lung was measured by a hand-held spirometer.
Results:
Ninety-nine carriers were monitored with a median follow-up of 9 years (range 7.0-10.6 years). Eleven carriers with DCM (10 DMD, 1 BMD) were identified. Nine of them developed DCM in the follow-up period. One of the patients with DCM reported in the 1995 study died of cardiac failure at age 57 years. DCM was more frequently found in carriers who were functionally symptomatic.
Conclusion:
Cardiac abnormalities in DMD/BMD carriers are progressive, as in patients with DMD/BMD.
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