Sudden cardiac death in childhood RASopathy-associated hypertrophic cardiomyopathy: Validation of the HCM risk-kids model and predictors of events

• DOI: 10.1016/j.ijcard.2023.131405
• Publication Date: 2023-09-28T20:45:33Z
• Authors: Olga D. Boleti; Sotirios Roussos; Gabrielle Norrish; Ella Field; Stephanie Oates; Jennifer Tollit; Gauri Nepali; Vinay Bhole; Orhan Uzun; Piers E.F. Daubeney; Graham A. Stuart; Precylia Fernandes; Karen McLeod; Maria Ilina; Muhammad Najih Al...; Tara Bharucha; Grazia Delle Donne; Elspeth Brown; Katie Linter; Bernadette Khodag...; Caroline Jones; Jonathan Searle; Sujeev Mathur; Nicola Boyd; Zdenka Reindhardt; Sophie Duignan; Terence Prendiville; Satish Adwani; Martin Zenker; Cordula Maria Wolf; Juan Pablo Kaski
• Keywords: Sudden cardiac death; Noonan syndrome; Pediatrics; RASopathies; 3. Good health; Hypertrophic cardiomyopathy

BackgroundRASopathies account for nearly 20% of cases childhood hypertrophic cardiomyopathy (HCM). Sudden cardiac death (SCD) occurs in patients with RASopathy-associated HCM, but the risk factors SCD have not been systematically evaluated.AimTo validate HCM Risk-Kids prediction model children and investigate potential specific predictors this population.MethodsValidation was performed a retrospective cohort 169 from 15 international paediatric cardiology centres. Multiple imputation by chained equations used missing values related to parameters.ResultsEleven (6.5%) experienced or equivalent event at median age 12.5 months (IQR 7.7–28.64). The calculated SCD/equivalent incidence 0.78 (95% CI 0.43–1.41) per 100 patient years. Six (54.54%) an were low-risk category according model. Harrell's C index 0.60, sensitivity 9.09%, specificity 63.92%, positive predictive value 1.72%, negative 91%; poor distinction between different groups. Unexplained syncope (HR 42.17, 95% 10.49–169.56, p < 0.001) non-sustained ventricular tachycardia 5.48, 1.58–19.03, 0.007) on univariate analysis.ConclusionUnexplained presence NSVT emerge as HCM. may be appropriate use population, larger multicentre collaborative studies are required further.