Becker muscular dystrophy associated with sarcomeric hypertrophic cardiomyopathy in a paediatric patient: a case report

Paola Dolader; Ella Field; Anna Sarkozy; Juan Pablo Kaski

doi:10.1093/ehjcr/ytz117

Becker muscular dystrophy associated with sarcomeric hypertrophic cardiomyopathy in a paediatric patient: a case report

Eur Heart J Case Rep. 2019 Jul 13;3(3):ytz117. doi: 10.1093/ehjcr/ytz117. eCollection 2019 Sep.

Authors

Paola Dolader¹, Ella Field^{1

2}, Anna Sarkozy³, Juan Pablo Kaski^{1

2}

Affiliations

¹ Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK.
² Institute of Cardiovascular Science, University College London, London WC1N 1EH, UK.
³ The Dubowitz Neuromuscular Centre, Department of Neuropathology, Great Ormond Street Hospital, Great Ormond Street, London WC1N3JH, UK.

Abstract

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.

Keywords: Cardiomyopathy; Case report; Genetics; Hypertrophic; Muscular dystrophy; Phenotype; Sarcomere.

Publication types

Case Reports