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Becker muscular dystrophy associated with sarcomeric hypertrophic cardiomyopathy in a paediatric patient: a case
Paola Dolader1, Ella Field1,2, Anna Sarkozy3
1Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK.
Insights
Becker muscular dystrophy (BMD) can present with hypertrophic cardiomyopathy (HCM). Genetic testing revealed a beta-myosin heavy chain gene variant, suggesting HCM as a co-existing condition in this BMD case.
Area of Science:
- Cardiology
- Neuromuscular Disorders
- Genetics
Background:
- Becker muscular dystrophy (BMD) is a neuromuscular disorder.
- Myocardial involvement, primarily dilated cardiomyopathy, is common in BMD.
- Hypertrophic cardiomyopathy (HCM) is rarely reported in BMD, with unclear etiology.
Observation:
- A 10-year-old boy with BMD presented with exercise-induced muscle pain and elevated creatine kinase.
- Cardiac screening revealed asymmetric septal hypertrophy, indicative of HCM.
- Genetic testing was performed due to the unusual co-occurrence of HCM and BMD.
Findings:
- A likely pathogenic variant in the beta-myosin heavy chain gene was identified in the patient.
- This genetic finding supports HCM as a co-existing condition in this BMD patient.
- The patient was diagnosed with both Becker muscular dystrophy and hypertrophic cardiomyopathy.
Implications:
- This case underscores the need to investigate additional cardiac etiologies in neuromuscular disorders.
- Recognizing infrequent phenotypes like HCM in BMD is crucial for comprehensive patient management.
- Genetic testing can clarify the underlying causes of complex cardiac presentations in genetic myopathies.
Background:
Becker muscular dystrophy (BMD) is a neuromuscular disorder associated with myocardial involvement. The most frequent presentation is dilated cardiomyopathy. There have been isolated reports of hypertrophic cardiomyopathy (HCM) in association with BMD, but it is unclear whether these patients had an additional aetiology.
Case Summary:
A 10-year-old boy was diagnosed with BMD having presented with a history of muscular pain during exercise and elevated serum creatine kinase levels. A cardiac screening was arranged and the echocardiogram confirmed an asymmetric septal hypertrophy. Given the unusual finding of HCM in this patient with BMD, we performed genetic testing for HCM-causing mutations and identified a likely pathogenic variant in heterozygosis in the beta-myosin heavy chain gene.
Discussion:
This case highlights the importance of considering additional aetiologies of cardiac disease in the presence of infrequent phenotypic expressions in neuromuscular disorders.
