Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.

Autor: Boleti O; Centre for Inherited Cardiovascular Diseases, Department of Cardiology, Great Ormond Street Hospital, London, UK.; Institute of Cardiovascular Science, University College London, London, UK., Norrish G; Centre for Inherited Cardiovascular Diseases, Department of Cardiology, Great Ormond Street Hospital, London, UK.; Institute of Cardiovascular Science, University College London, London, UK., Field E; Centre for Inherited Cardiovascular Diseases, Department of Cardiology, Great Ormond Street Hospital, London, UK.; Institute of Cardiovascular Science, University College London, London, UK., Dady K; Centre for Inherited Cardiovascular Diseases, Department of Cardiology, Great Ormond Street Hospital, London, UK., Summers K; Institute of Cardiovascular Science, University College London, London, UK., Nepali G; The Heart Unit, Birmingham Children's Hospital, Birmingham, UK., Bhole V; The Heart Unit, Birmingham Children's Hospital, Birmingham, UK., Uzun O; Children's Heart Unit, University Hospital of Wales, Cardiff, UK., Wong A; Children's Heart Unit, University Hospital of Wales, Cardiff, UK., Daubeney PEF; Department of Paediatric Cardiology, Royal Brompton and Harefield NHS Trust, London, UK., Stuart G; Department of Paediatric Cardiology, Bristol Royal Hospital for Children, Bristol, UK., Fernandes P; Department of Paediatric Cardiology, Royal Hospital for Children, Glasgow, UK., McLeod K; Department of Paediatric Cardiology, Royal Hospital for Children, Glasgow, UK., Ilina M; Department of Paediatric Cardiology, Royal Hospital for Children, Glasgow, UK., Ali MNL; Department of Paediatric Cardiology, Southampton General Hospital, Southampton, UK., Bharucha T; Department of Paediatric Cardiology, Southampton General Hospital, Southampton, UK., Donne GD; Department of Paediatric Cardiology, Leeds General Infirmary, Leeds, UK., Brown E; Department of Paediatric Cardiology, Leeds General Infirmary, Leeds, UK., Linter K; Department of Paediatric Cardiology, Glenfield Hospital, Leicester, UK., Jones CB; Department of Cardiology, Alder Hey Children's Hospital, Liverpool, UK., Searle J; Children's Heart Service, Evelina Children's Hospital, London, UK.; Department of Paediatric Cardiology, John Radcliffe Hospital, Oxford, UK., Regan W; Children's Heart Service, Evelina Children's Hospital, London, UK., Mathur S; Children's Heart Service, Evelina Children's Hospital, London, UK., Boyd N; Department of Paediatric Cardiology, The Freeman Hospital, Newcastle, UK., Reinhardt Z; Department of Paediatric Cardiology, The Freeman Hospital, Newcastle, UK., Duignan S; The Children's Heart Centre, Our Lady's Children's Hospital, Dublin, Ireland., Prendiville T; The Children's Heart Centre, Our Lady's Children's Hospital, Dublin, Ireland., Adwani S; Department of Paediatric Cardiology, John Radcliffe Hospital, Oxford, UK., Kaski JP; Centre for Inherited Cardiovascular Diseases, Department of Cardiology, Great Ormond Street Hospital, London, UK.; Institute of Cardiovascular Science, University College London, London, UK.
Jazyk: angličtina
Zdroj: ESC heart failure [ESC Heart Fail] 2024 Apr; Vol. 11 (2), pp. 923-936. Date of Electronic Publication: 2024 Jan 13.
DOI: 10.1002/ehf2.14637
Abstrakt: Aims: This study aimed to describe the natural history and predictors of all-cause mortality and sudden cardiac death (SCD)/equivalent events in children with a RASopathy syndrome and hypertrophic cardiomyopathy (HCM).
Methods and Results: This is a retrospective cohort study from 14 paediatric cardiology centres in the United Kingdom and Ireland. We included children <18 years with HCM and a clinical and/or genetic diagnosis of a RASopathy syndrome [Noonan syndrome (NS), NS with multiple lentigines (NSML), Costello syndrome (CS), cardiofaciocutaneous syndrome (CFCS), and NS with loose anagen hair (NS-LAH)]. One hundred forty-nine patients were recruited [111 (74.5%) NS, 12 (8.05%) NSML, 6 (4.03%) CS, 6 (4.03%) CFCS, 11 (7.4%) Noonan-like syndrome, and 3 (2%) NS-LAH]. NSML patients had higher left ventricular outflow tract (LVOT) gradient values [60 (36-80) mmHg, P = 0.004]. Over a median follow-up of 197.5 [inter-quartile range (IQR) 93.58-370] months, 23 patients (15.43%) died at a median age of 24.1 (IQR 5.6-175.9) months. Survival was 96.45% [95% confidence interval (CI) 91.69-98.51], 90.42% (95% CI 84.04-94.33), and 84.12% (95% CI 75.42-89.94) at 1, 5, and 10 years, respectively, but this varied by RASopathy syndrome. RASopathy syndrome, symptoms at baseline, congestive cardiac failure (CCF), non-sustained ventricular tachycardia (NSVT), and maximal left ventricular wall thickness were identified as predictors of all-cause mortality on univariate analysis, and CCF, NSVT, and LVOT gradient were predictors for SCD or equivalent event.
Conclusions: These findings highlight a distinct category of patients with Noonan-like syndrome with a milder HCM phenotype but significantly worse survival and identify potential predictors of adverse outcome in patients with RASopathy-related HCM.
(© 2024 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.)
Databáze: MEDLINE
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