Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations
Objective We provide succinct, evidence-based 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 management of female carriers of mutations in the DMD-gene.Methods Initiated by an e...
| Main Authors: | , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMJ Publishing Group
2022-11-01
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| Series: | Open Heart |
| Online Access: | https://openheart.bmj.com/content/9/2/e001977.full |
| _version_ | 1797788518689275904 |
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| author | Ros Quinlivan Michela Guglieri Ashish Chikermane Adrian Morley-Davies Konstantinos Savvatis Zaheer Yousef John Bourke William Bradlow Matthew Fenton Caroline Coats Maria Ilina Marianela Schiava Cathy Turner Alexandra Johnson Stam Kapetanakis Lisa Kuhwald |
| author_facet | Ros Quinlivan Michela Guglieri Ashish Chikermane Adrian Morley-Davies Konstantinos Savvatis Zaheer Yousef John Bourke William Bradlow Matthew Fenton Caroline Coats Maria Ilina Marianela Schiava Cathy Turner Alexandra Johnson Stam Kapetanakis Lisa Kuhwald |
| author_sort | Ros Quinlivan |
| collection | DOAJ |
| description | Objective We provide succinct, evidence-based 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 management of female carriers of mutations in the DMD-gene.Methods Initiated by an expert working group 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 DMD.Results The resulting recommendations are presented in the form of a succinct care pathway flow chart with brief justification. The guidance signposts evidence on which they are based and acknowledges where there have been differences in opinion. Guidelines for cardiac care of patients with more advanced cardiac dystrophinopathy at any age have also been considered, based on the previous published work of Quinlivan et al and are presented here in a similar format. The recommendations have been endorsed by the British Cardiovascular Society.Conclusion These guidelines provide succinct, reasoned recommendations for all those managing paediatric patients with early or advanced stages of cardiomyopathy as well as females with cardiac dystrophinopathy. The hope is that this 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. |
| first_indexed | 2024-03-13T01:37:42Z |
| format | Article |
| id | doaj.art-45cca066188d4f10a7b8685d5cba82de |
| institution | Directory Open Access Journal |
| issn | 2053-3624 |
| language | English |
| last_indexed | 2024-03-13T01:37:42Z |
| publishDate | 2022-11-01 |
| publisher | BMJ Publishing Group |
| record_format | Article |
| series | Open Heart |
| spelling | doaj.art-45cca066188d4f10a7b8685d5cba82de2023-07-03T21:30:06ZengBMJ Publishing GroupOpen Heart2053-36242022-11-019210.1136/openhrt-2022-001977Cardiac care of children with dystrophinopathy and females carrying DMD-gene variationsRos Quinlivan0Michela Guglieri1Ashish Chikermane2Adrian Morley-Davies3Konstantinos Savvatis4Zaheer Yousef5John Bourke6William Bradlow7Matthew Fenton8Caroline Coats9Maria Ilina10Marianela Schiava11Cathy Turner12Alexandra Johnson13Stam Kapetanakis14Lisa Kuhwald15Institute of Neurology, University College London Hospitals NHS Foundation Trust, London, UKJohn Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UKDepartment of Cardiology, Birmingham Children`s Hospital, Birmingham Women`s and Children`s NHS Foundation Trust, Birmingham, UKDepartment of Cardiology, University Hospitals of North Midlands NHS Trust, Stoke-on-Trent, UK10Biomedical Research Unit at Barts, Barts Heart Center, LondonDepartment of Cardiology, Cardiff and Vale University Health Board, Cardiff, UKDepartment of Cardiology, Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, UKDepartment of Paediatric Cardiology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UKDepartment of Paediatric Cardiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UKDepartment of Cardiology, NHS Greater Glasgow and Clyde, Glasgow, UKScottish Paediatric Cardiac Services, Royal Hospital for Children, Glasgow, UKJohn Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UKJohn Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UKDuchenne UK, London, UKDepartment of Cardiology, Guy`s and St Thomas` NHS Foundation Trust, London, UKDuchenne UK, London, UKObjective We provide succinct, evidence-based 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 management of female carriers of mutations in the DMD-gene.Methods Initiated by an expert working group 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 DMD.Results The resulting recommendations are presented in the form of a succinct care pathway flow chart with brief justification. The guidance signposts evidence on which they are based and acknowledges where there have been differences in opinion. Guidelines for cardiac care of patients with more advanced cardiac dystrophinopathy at any age have also been considered, based on the previous published work of Quinlivan et al and are presented here in a similar format. The recommendations have been endorsed by the British Cardiovascular Society.Conclusion These guidelines provide succinct, reasoned recommendations for all those managing paediatric patients with early or advanced stages of cardiomyopathy as well as females with cardiac dystrophinopathy. The hope is that this 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.https://openheart.bmj.com/content/9/2/e001977.full |
| spellingShingle | Ros Quinlivan Michela Guglieri Ashish Chikermane Adrian Morley-Davies Konstantinos Savvatis Zaheer Yousef John Bourke William Bradlow Matthew Fenton Caroline Coats Maria Ilina Marianela Schiava Cathy Turner Alexandra Johnson Stam Kapetanakis Lisa Kuhwald Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations Open Heart |
| title | Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations |
| title_full | Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations |
| title_fullStr | Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations |
| title_full_unstemmed | Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations |
| title_short | Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations |
| title_sort | cardiac care of children with dystrophinopathy and females carrying dmd gene variations |
| url | https://openheart.bmj.com/content/9/2/e001977.full |
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