Heart failure & cardiomyopathies
Natural History and Outcomes in Paediatric RASopathy-Associated Hypertrophic Cardiomyopathy
Authors' conclusion
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.
Study context
- Population
- Children <18 years with hypertrophic cardiomyopathy (HCM) and a clinical and/or genetic diagnosis of a RASopathy syndrome
- Participants
- 149 children
- Exposure
- Noonan syndrome (NS) vs NS with multiple lentigines (NSML) vs Costello syndrome (CS) vs CFCS vs Noonan-like syndrome vs NS with loose anagen hair (NS-LAH)
- NSn = 111
- NSMLn = 12
- CSn = 6
- CFCSn = 6
- Noonan-like syndromen = 11
- NS-LAHn = 3
- Outcome
- All-cause mortality and SCD/equivalent events
Methodological detailsmulticentre, 14 paediatric cardiology centres, UK and Ireland
- Multicentre
- 14 paediatric cardiology centres, UK and Ireland
Main finding
As reported in the abstract
Survival
- Survival at 1 year
- 96.45% (95% CI 91.69-98.51)
- Survival at 5 years
- 90.42% (95% CI 84.04-94.33)
- Survival at 10 years
- 84.12% (95% CI 75.42-89.94)
- Deaths over median follow-up 197.5 (IQR 93.58-370) months
- 23 (15.43%)
- Median age at death, months (IQR 5.6-175.9)
- 24.1
Observational data: associations, not effects.
Further findings
| Outcome | Values |
|---|---|
| LVOT gradient | NSML 60 (IQR 36–80) mmHg |
- Left ventricular outflow tract (LVOT) gradient — Higher LVOT gradient in NSML
- P = 0.004
Predictors of all-cause mortality (univariate)
- RASopathy syndrome, baseline symptoms, congestive cardiac failure (CCF), non-sustained ventricular tachycardia (NSVT) and maximal LV wall thickness
- Univariate analysis
Predictors of sudden cardiac death (SCD) or equivalent event
- CCF, NSVT and LVOT gradient
Original publication
Natural History and Outcomes in Paediatric RASopathy-Associated Hypertrophic Cardiomyopathy. ESC Heart Fail. Published 13 January 2024. doi:10.
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