Hypertrophic cardiomyopathy in Duchenne muscular dystrophy: a case series
Eleanor Greiner1, Nobuyuki Ikeda1, Thomas D Ryan1
1The Heart Institute, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati, Cincinnati, OH, USA.
Insights
Duchenne muscular dystrophy patients can develop hypertrophic cardiomyopathy, a rare combined cardiac pathology. This case series presents longitudinal findings in three such patients, expanding on previous reports.
Area of Science:
- Cardiology
- Genetics
- Neuromuscular Disorders
Background:
- Duchenne muscular dystrophy (DMD) involves muscle fibrofatty replacement and dilated cardiomyopathy.
- Hypertrophic cardiomyopathy (HCM) is characterized by asymmetric ventricular septal hypertrophy, affecting 1:200-1:500 individuals.
- Combined DMD and HCM pathology is exceptionally rare, with only two prior case reports.
Purpose of the Study:
- To describe the longitudinal findings in three patients with Duchenne muscular dystrophy who developed hypertrophic cardiomyopathy.
- To expand upon the limited existing literature on the co-occurrence of these two conditions.
- To provide insights into the progression and characteristics of combined DMD and HCM.
Main Methods:
- Case series design.
- Longitudinal data collection from three patients with confirmed Duchenne muscular dystrophy and subsequent development of hypertrophic cardiomyopathy.
- Clinical assessment, echocardiography, and cardiac imaging review.
Main Results:
- Detailed longitudinal clinical and echocardiographic data were collected for three DMD patients who developed HCM.
- The findings expand upon the two previously reported cases of combined DMD and HCM pathology.
- This series offers a more comprehensive view of the progression of HCM in the context of DMD.
Conclusions:
- The co-occurrence of Duchenne muscular dystrophy and hypertrophic cardiomyopathy, while rare, warrants clinical attention.
- Longitudinal monitoring is crucial for identifying and managing HCM in DMD patients.
- Further research is needed to understand the mechanisms and optimal management of this combined cardiac condition.
Abstract:
Duchenne muscular dystrophy is characterised by fibrofatty replacement of muscle, resulting in dilated cardiomyopathy. Hypertrophic cardiomyopathy affects 1:200-1:500 people and is characterised by asymmetric ventricular septal hypertrophy. To date, there have been two separately reported cases describing the combined pathology of these disorders. Herein, we expand upon these reports with a case series describing longitudinal findings in three patients with Duchenne muscular dystrophy who developed hypertrophic cardiomyopathy.
