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Title:

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

Document type:
Journal Article
Author(s):
Boleti, Olga D; Roussos, Sotirios; Norrish, Gabrielle; Field, Ella; Oates, Stephanie; Tollit, Jennifer; Nepali, Gauri; Bhole, Vinay; Uzun, Orhan; Daubeney, Piers E F; Stuart, Graham A; Fernandes, Precylia; McLeod, Karen; Ilina, Maria; Liaqath, Muhammad Najih Ali; Bharucha, Tara; Delle Donne, Grazia; Brown, Elspeth; Linter, Katie; Khodaghalian, Bernadette; Jones, Caroline; Searle, Jonathan; Mathur, Sujeev; Boyd, Nicola; Reindhardt, Zdenka; Duignan, Sophie; Prendiville, Terence; Adwani, Satish; Ze...     »
Abstract:
BACKGROUND: RASopathies account for nearly 20% of cases of childhood hypertrophic cardiomyopathy (HCM). Sudden cardiac death (SCD) occurs in patients with RASopathy-associated HCM, but the risk factors for SCD have not been systematically evaluated. AIM: To validate the HCM Risk-Kids SCD risk prediction model in children with RASopathy-associated HCM and investigate potential specific SCD predictors in this population. METHODS: Validation of HCM Risk-Kids was performed in a retrospective cohort of 169 patients with a RASopathy-associated HCM from 15 international paediatric cardiology centres. Multiple imputation by chained equations was used for missing values related to the HCM Risk-Kids parameters. RESULTS: Eleven patients (6.5%) experienced a SCD or equivalent event at a median age of 12.5 months (IQR 7.7-28.64). The calculated SCD/equivalent event incidence was 0.78 (95% CI 0.43-1.41) per 100 patient years. Six patients (54.54%) with an event were in the low-risk category according to the HCM Risk-Kids model. Harrell's C index was 0.60, with a sensitivity of 9.09%, specificity of 63.92%, positive predictive value of 1.72%, and negative predictive value of 91%; with a poor distinction between the different risk groups. Unexplained syncope (HR 42.17, 95% CI 10.49-169.56, p < 0.001) and non-sustained ventricular tachycardia (HR 5.48, 95% CI 1.58-19.03, p < 0.007) were predictors of SCD on univariate analysis. CONCLUSION: Unexplained syncope and the presence of NSVT emerge as predictors for SCD in children with RASopathy-associated HCM. The HCM Risk-Kids model may not be appropriate to use in this population, but larger multicentre collaborative studies are required to investigate this further.
Journal title abbreviation:
Int J Cardiol
Year:
2023
Journal volume:
393
Fulltext / DOI:
doi:10.1016/j.ijcard.2023.131405
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/37777071
Print-ISSN:
0167-5273
TUM Institution:
Klinik für Kinderkardiologie und angeborene Herzfehler (DHM) (Prof. Ewert)
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