PMID- 38217456
OWN - NLM
STAT- MEDLINE
DCOM- 20240328
LR  - 20240329
IS  - 2055-5822 (Electronic)
IS  - 2055-5822 (Linking)
VI  - 11
IP  - 2
DP  - 2024 Apr
TI  - Natural history and outcomes in paediatric RASopathy-associated hypertrophic 
      cardiomyopathy.
PG  - 923-936
LID - 10.1002/ehf2.14637 [doi]
AB  - 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.
CI  - (c) 2024 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on 
      behalf of European Society of Cardiology.
FAU - Boleti, Olga
AU  - Boleti O
AUID- ORCID: 0000-0002-0254-0217
AD  - Centre for Inherited Cardiovascular Diseases, Department of Cardiology, Great 
      Ormond Street Hospital, London, UK.
AD  - Institute of Cardiovascular Science, University College London, London, UK.
FAU - Norrish, Gabrielle
AU  - Norrish G
AD  - Centre for Inherited Cardiovascular Diseases, Department of Cardiology, Great 
      Ormond Street Hospital, London, UK.
AD  - Institute of Cardiovascular Science, University College London, London, UK.
FAU - Field, Ella
AU  - Field E
AD  - Centre for Inherited Cardiovascular Diseases, Department of Cardiology, Great 
      Ormond Street Hospital, London, UK.
AD  - Institute of Cardiovascular Science, University College London, London, UK.
FAU - Dady, Kathleen
AU  - Dady K
AD  - Centre for Inherited Cardiovascular Diseases, Department of Cardiology, Great 
      Ormond Street Hospital, London, UK.
FAU - Summers, Kim
AU  - Summers K
AD  - Institute of Cardiovascular Science, University College London, London, UK.
FAU - Nepali, Gauri
AU  - Nepali G
AD  - The Heart Unit, Birmingham Children's Hospital, Birmingham, UK.
FAU - Bhole, Vinay
AU  - Bhole V
AD  - The Heart Unit, Birmingham Children's Hospital, Birmingham, UK.
FAU - Uzun, Orhan
AU  - Uzun O
AD  - Children's Heart Unit, University Hospital of Wales, Cardiff, UK.
FAU - Wong, Amos
AU  - Wong A
AD  - Children's Heart Unit, University Hospital of Wales, Cardiff, UK.
FAU - Daubeney, Piers E F
AU  - Daubeney PEF
AD  - Department of Paediatric Cardiology, Royal Brompton and Harefield NHS Trust, 
      London, UK.
FAU - Stuart, Graham
AU  - Stuart G
AD  - Department of Paediatric Cardiology, Bristol Royal Hospital for Children, 
      Bristol, UK.
FAU - Fernandes, Precylia
AU  - Fernandes P
AD  - Department of Paediatric Cardiology, Royal Hospital for Children, Glasgow, UK.
FAU - McLeod, Karen
AU  - McLeod K
AD  - Department of Paediatric Cardiology, Royal Hospital for Children, Glasgow, UK.
FAU - Ilina, Maria
AU  - Ilina M
AD  - Department of Paediatric Cardiology, Royal Hospital for Children, Glasgow, UK.
FAU - Ali, Muhammad Najih Liaqath
AU  - Ali MNL
AD  - Department of Paediatric Cardiology, Southampton General Hospital, Southampton, 
      UK.
FAU - Bharucha, Tara
AU  - Bharucha T
AD  - Department of Paediatric Cardiology, Southampton General Hospital, Southampton, 
      UK.
FAU - Donne, Grazia Delle
AU  - Donne GD
AD  - Department of Paediatric Cardiology, Leeds General Infirmary, Leeds, UK.
FAU - Brown, Elspeth
AU  - Brown E
AD  - Department of Paediatric Cardiology, Leeds General Infirmary, Leeds, UK.
FAU - Linter, Katie
AU  - Linter K
AD  - Department of Paediatric Cardiology, Glenfield Hospital, Leicester, UK.
FAU - Jones, Caroline B
AU  - Jones CB
AD  - Department of Cardiology, Alder Hey Children's Hospital, Liverpool, UK.
FAU - Searle, Jonathan
AU  - Searle J
AD  - Children's Heart Service, Evelina Children's Hospital, London, UK.
AD  - Department of Paediatric Cardiology, John Radcliffe Hospital, Oxford, UK.
FAU - Regan, William
AU  - Regan W
AD  - Children's Heart Service, Evelina Children's Hospital, London, UK.
FAU - Mathur, Sujeev
AU  - Mathur S
AD  - Children's Heart Service, Evelina Children's Hospital, London, UK.
FAU - Boyd, Nicola
AU  - Boyd N
AD  - Department of Paediatric Cardiology, The Freeman Hospital, Newcastle, UK.
FAU - Reinhardt, Zdenka
AU  - Reinhardt Z
AD  - Department of Paediatric Cardiology, The Freeman Hospital, Newcastle, UK.
FAU - Duignan, Sophie
AU  - Duignan S
AD  - The Children's Heart Centre, Our Lady's Children's Hospital, Dublin, Ireland.
FAU - Prendiville, Terence
AU  - Prendiville T
AD  - The Children's Heart Centre, Our Lady's Children's Hospital, Dublin, Ireland.
FAU - Adwani, Satish
AU  - Adwani S
AD  - Department of Paediatric Cardiology, John Radcliffe Hospital, Oxford, UK.
FAU - Kaski, Juan Pablo
AU  - Kaski JP
AD  - Centre for Inherited Cardiovascular Diseases, Department of Cardiology, Great 
      Ormond Street Hospital, London, UK.
AD  - Institute of Cardiovascular Science, University College London, London, UK.
LA  - eng
GR  - MR/T024062/1/MRC_/Medical Research Council/United Kingdom
PT  - Journal Article
DEP - 20240113
PL  - England
TA  - ESC Heart Fail
JT  - ESC heart failure
JID - 101669191
SB  - IM
MH  - Humans
MH  - Child
MH  - Retrospective Studies
MH  - *Cardiomyopathy, Hypertrophic/diagnosis
MH  - *Noonan Syndrome/genetics
MH  - *Heart Failure
MH  - Death, Sudden, Cardiac
PMC - PMC10966228
OTO - NOTNLM
OT  - Arrhythmia
OT  - Genetics
OT  - Hypertrophic cardiomyopathy
OT  - Inherited cardiac conditions
OT  - Mortality
OT  - Noonan
OT  - Paediatric cardiology
OT  - Predictors
OT  - RASopathy
OT  - Sudden cardiac death
COIS- None declared.
EDAT- 2024/01/13 17:44
MHDA- 2024/03/28 06:44
PMCR- 2024/01/13
CRDT- 2024/01/13 07:51
PHST- 2023/10/24 00:00 [revised]
PHST- 2023/06/15 00:00 [received]
PHST- 2023/11/23 00:00 [accepted]
PHST- 2024/03/28 06:44 [medline]
PHST- 2024/01/13 17:44 [pubmed]
PHST- 2024/01/13 07:51 [entrez]
PHST- 2024/01/13 00:00 [pmc-release]
AID - EHF214637 [pii]
AID - 10.1002/ehf2.14637 [doi]
PST - ppublish
SO  - ESC Heart Fail. 2024 Apr;11(2):923-936. doi: 10.1002/ehf2.14637. Epub 2024 Jan 
      13.