Key result
Tiered diagnostic workup integrating phenotyping, imaging, and genetics is essential after pediatric sudden cardiac arrest.
Why the study?
Aborted sudden cardiac death in children and adolescents is commonly associated with inherited arrhythmia syndromes, cardiomyopathies, and coronary anomalies, requiring a comprehensive, tiered framework for diagnostic evaluation in survivors of resuscitated sudden cardiac arrest.
This review outlines a tiered, multidisciplinary diagnostic framework combining clinical cardiac phenotyping and genetic testing to establish diagnoses and guide family screening in pediatric survivors of sudden cardiac arrest.
May guide evaluation of pediatric aborted SCD survivors; leaves open prospective validation of the proposed framework.
Aborted sudden cardiac death (SCD) in children and adolescents is terrifying for patients and families. Inherited arrhythmia syndromes, cardiomyopathies, and coronary anomalies are the most common associations. This review provides a comprehensive framework for diagnostic evaluation in survivors of resuscitated sudden cardiac arrest. After hemodynamic stabilization and neuroprotection, evaluation often requires data retrieval, structured cardiac phenotyping, and obtaining samples to assess for molecular, metabolic or toxicology analysis. A tiered approach is essential. A surface electrocardiogram (ECG) and echocardiography remain first line investigations. Primary electrical diseases may be evident on a standard and modified ECG, including Wolff-Parkinson-White (WPW) syndrome, conduction abnormalities, myocardial ischemia, and some cardiac channelopathies. Early echocardiography assesses structural heart disease, cardiomyopathies and myocarditis. Special attention should be paid to anomalous origin of the coronary arteries and recent work has emphasized the importance of mitral annular disjunction. Cardiac magnetic resonance imaging, exercise stress testing, and drug provocation testing can be useful supplements to reveal concealed substrates. Genetic testing is vital for precision medicine and cascade family screening, often requiring a multidisciplinary team to assess variants of uncertain significance (VUS) and complex genomic findings. Ultimately, the critical step is genotype-phenotype correlation, where the team determines whether the genetic and clinical data reinforce one another to provide a diagnosis, refine treatment, and prevent future tragedies within affected families.
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Kwok et al. (2026) conducted a review in Aborted sudden cardiac death / resuscitated sudden cardiac arrest. Tiered diagnostic evaluation (ECG, echocardiography, CMR, stress/provocation testing, genetic testing) was evaluated. A tiered diagnostic approach integrating cardiac phenotyping, imaging, and genetic testing with genotype-phenotype correlation is essential in pediatric survivors of sudden cardiac arrest.
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