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6 Cardiac care of children with duchenne muscular dystrophy (DMD) and females carrying dmd-gene variations: a collaborative approach to care-guidelines for maintaining heart health for as long as possible in dystrophinopathy
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  1. Catherine Turner1,
  2. Zaheer Yousef2,
  3. John Bourke3
  1. 1John Walton Muscular Dystrophy Research Centre
  2. 2Cardiff and Vale UHB
  3. 3Newcastle upon Tyne Hospitals NHS FoundationTrust

Abstract

Introduction We provide succinct, evidence- and/or consensus-based best practice guidance for the cardiac care of children living with Duchenne muscular dystrophy (DMD) as well as recommendations for screening and managing potential cardiac involvement in females with mutations in the DMD-gene.

Methods Initiated by an expert working group (WG) of UK-based cardiologists, neuromuscular clinicians and DMD-patient representatives, draft guidelines were created based on published evidence, current practice and expert opinion. After wider consultation with UK-cardiologists, consensus was reached on these best-practice recommendations for cardiac care in dystrophinopathy. As part of DMD Care UK, close links were established with other expert WGs (including respiratory and emergency) to ensure a coherent approach to multi-disciplinary care in this multi-systemic disease.

Results The resulting recommendations for cardiac care of all children with DMD are presented in the form of a succinct care-pathway flow chart with brief justification. They are also relevant for patients with Becker muscular dystrophy (BMD) and female carriers of mutations in the DMD-gene. The guidance also signposts the evidence on which the recommendations are based. Guidelines for cardiac care of patients with more advanced cardiac dystrophinopathy at any age have also been considered. The recommendations have been endorsed by the British Cardiovascular Society (BCS).

Conclusion These guidelines provide succinct, reasoned recommendations for all health care professionals managing paediatric dystrophinopathy patients with early or advanced stages of cardiomyopathy as well as females at risk of or with cardiac dystrophinopathy. The hope is that they will result in more uniform delivery of high standards of care for children with cardiac dystrophinopathy, so improving heart health into adulthood through timely earlier interventions across the UK.

Link to full guidance: Open Heart 2022;9:e001977. doi:10.1136/ openhrt-2022-001977

Conflict of Interest Funded by Duchenne UK

  • Dystrophinopathy
  • Cardiomyopathy
  • Care guidelines

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