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Friedreich’s ataxia-associated childhood hypertrophic cardiomyopathy: a national cohort study
  1. Gabrielle Norrish1,2,
  2. Thomas Rance1,
  3. Elena Montanes1,
  4. Ella Field1,
  5. Elspeth Brown3,
  6. Vinay Bhole4,
  7. Graham Stuart5,
  8. Orhan Uzun6,
  9. Karen A McLeod7,
  10. Maria Ilina8,
  11. Satish Adwani9,
  12. Piers Daubeney10,
  13. Grazia Delle Donne10,
  14. Katie Linter11,
  15. Caroline B Jones12,
  16. Tara Bharucha13,
  17. Elena Cervi1,
  18. Juan Pablo Kaski1,2
  1. 1Centre for Inherited Cardiovascular Disease, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK
  2. 2Institute of Cardiovascular Science, University College London, London, UK
  3. 3Paediatric Cardiology, Leeds General Infirmary, Leeds, UK
  4. 4Paediatric Cardiology, Birmingham Women and Children’s NHS Foundation Trust, Birmingham, UK
  5. 5Bristol Congenital Heart Centre, Bristol Heart Institute, Bristol, UK
  6. 6Paediatric cardiology, University Hospital of Wales, Cardiff, UK
  7. 7Paediatric cardiology, Royal Hospital for Sick Children, Glasgow, UK
  8. 8Paediatric cardiology, Royal Hospital for Children, Glasgow, UK
  9. 9Paediatric Cardiology, John Radcliffe Hospital, Oxford, UK
  10. 10Paediatric cardiology, Royal Brompton and Harefield NHS Trust and National Heart and Lung Institute, London, UK
  11. 11Paediatric cardiology, University Hospitals of Leicester NHS Trust, Leicester, UK
  12. 12Paediatric cardiology, Alder Hey Children’s Hospital, Liverpool, UK
  13. 13Department of Congenital Cardiology, University Hospital Southampton NHS Foundation Trust, Southampton, UK
  1. Correspondence to Dr Juan Pablo Kaski, Inherited Cardiovascular Diseases Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; j.kaski{at}ucl.ac.uk

Abstract

Objective Hypertrophic cardiomyopathy (HCM) is an important predictor of long-term outcomes in Friedreich’s ataxia (FA), but the clinical spectrum and survival in childhood is poorly described. This study aimed to describe the clinical characteristics of children with FA-HCM.

Design and setting Retrospective, longitudinal cohort study of children with FA-HCM from the UK.

Patients 78 children (<18 years) with FA-HCM diagnosed over four decades.

Intervention Anonymised retrospective demographic and clinical data were collected from baseline evaluation and follow-up.

Main outcome measures The primary study end-point was all-cause mortality (sudden cardiac death, atrial arrhythmia-related death, heart failure-related death, non-cardiac death) or cardiac transplantation.

Results The mean age at diagnosis of FA-HCM was 10.9 (±3.1) years. Diagnosis was within 1 year of cardiac referral in 34 (65.0%) patients, but preceded the diagnosis of FA in 4 (5.3%). At baseline, 65 (90.3%) had concentric left ventricular hypertrophy and 6 (12.5%) had systolic impairment. Over a median follow-up of 5.1 years (IQR 2.4–7.3), 8 (10.5%) had documented supraventricular arrhythmias and 8 (10.5%) died (atrial arrhythmia-related n=2; heart failure-related n=1; non-cardiac n=2; or unknown cause n=3), but there were no sudden cardiac deaths. Freedom from death or transplantation at 10 years was 80.8% (95% CI 62.5 to 90.8).

Conclusions This is the largest cohort of childhood FA-HCM reported to date and describes a high prevalence of atrial arrhythmias and impaired systolic function in childhood, suggesting early progression to end-stage disease. Overall mortality is similar to that reported in non-syndromic childhood HCM, but no patients died suddenly.

  • cardiology
  • paediatrics
  • neurology

Data availability statement

The data underlying this article cannot be shared publically as consent for dissemination of patient data was not obtained. GN, TR and JPK had access to all data and final responsibility for submission of the manuscript. Data underlying this article is not available as consent was not obtained for sharing data.

https://creativecommons.org/licenses/by/4.0/

This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.

https://doi.org/10.1136/archdischild-2021-322455

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    Data availability statement

    The data underlying this article cannot be shared publically as consent for dissemination of patient data was not obtained. GN, TR and JPK had access to all data and final responsibility for submission of the manuscript. Data underlying this article is not available as consent was not obtained for sharing data.

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    Footnotes

    • Twitter @DoctorTRance, @ag_stuart

    • Contributors GN, EC and JPK designed the study. All authors collected the data. GN and TR performed the data analysis and wrote the manuscript draft. All authors reviewed and revised the manuscript and agreed to its submission in its current form.

    • Funding This work was supported by the British Heart Foundation (grant number FS/16/72/32270) to GN and JPK. EF and JPK are supported by Max’s Foundation and the Great Ormond Street Hospital Children’s Charity. JPK is supported by a Medical Research Council (MRC)-National Institute for Health Research (NIHR) Clinical Academic Research Partnership (CARP) award. This work is (partly) funded by the NIHR GOSH BRC.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.