Sudden cardiac death in childhood RASopathy-associated hypertrophic cardiomyopathy: Validation of the HCM risk-kids model and predictors of events
A new retrospective study conducted by 15 pediatric cardiology centers identifies risk factors for sudden cardiac death in children with RASopathy-associated hypertrophic cardiomyopathy.
RASopathies are a large group of diseases caused by genetic changes that lead to disturbed development of several body parts (e.g. heart, skin, bone, eye) and learning problems. Around one child in 2,500 is thought to carry the genetic variant, and of these, one in five will develop thickening of the heart muscle, called hypertrophic cardiomyopathy (HCM). Children with RASopathy-associated HCM are at risk for sudden cardiac death due to life-threatening abnormal heart beats originating in the heart chambers.
Primary prophylactic implantation of a cardioverter-defibrillator (ICD), i.e. before a life-threatening cardiac arrhythmia occurs, can prevent sudden cardiac death. However, ICD implantation in children is associated with significant morbidity due to their low body weight and size. Risk analysis to estimate the likelihood of the occurrence of fatal arrhythmias is necessary to optimize these children´s care.
There are validated risk calculators for children with non-syndromic, “classical” hypertrophic cardiomyopathy (a heart muscle disorder that affects only the heart, not other parts of the body), but those have not been assessed in children with RASopathic cardiomyopathy.
The current study investigated the use of one of the risk calculators used in children with non-syndromic hypertrophic cardiomyopathy (HCM Risk-Kids) in an international cohort of 169 children with RASopathy-associated HCM, and results of the analysis suggest that the HCM Risk-Kids calculator may not be appropriate for this population. Data provide evidence that unexplained syncope (temporary loss of consciousness) and non-sustained ventricular tachycardia (rapid heartbeat originating in the ventricles that last no longer than 30 seconds) are predictors for fatal arrhythmias in children with RASopathy-associated HCM.
In summary, data from this study help to improve clinical care for children with RASopathy-associated HCM by optimizing risk analysis for life-threatening arrhythmias to inform optimal timing of primary prophylactic ICD-implantation.
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 Ali Liaqath, Tara Bharucha, Grazia Delle Donne, Elspeth Brown, Katie Linter, Bernadette Khodaghalian, Caroline Jones, Jonathan Searle, Sujeev Mathur, Nicola Boyd, Zdenka Reindhardt, Sophie Duignan, Terence Prendiville, Satish Adwani, Martin Zenker, Cordula Maria Wolf, Juan Pablo Kaski.
International Journal of Cardiology 2023, https://doi.org/10.1016/j.ijcard.2023.131405
Prepared by Cordula Wolf and Ruth Biller