This study investigates the genetic background of pediatric-onset cardiac channelopa-thies, a rare group of genetic disorders causing arrhythmias and sometimes sudden death whose genetic background remains partially unknown. The research analyzed 59 pediatric patients ( 18 years of age) diagnosed with different channelopathies (LQTS, BrS, CPVT, SQTS, and conduction disorders), along with 40 of their family members, using Next Generation Sequencing (NGS) after genetic counselling. A causative genetic variant was found in 47% of cases, mainly in KCNQ1 (42%), RYR2 (16%), CACNA1C (10%), and SCN5A (10%) genes. Notably, a de novo large deletion in KCNH2 has been detected in an LQTS patient, and a pathogenic CALM1 variant has been identified in a child. A compound heterozygous KCNQ1 was consistent with the Jervell and Lange-Nielsen syndrome. In the light of these data genetic testing is crucial for diagnosis, prognosis and treatment planning; cascade screening allowed early risk identification and preventive interventions for family members. Expanding NGS technologies and research on new candidate genes may enhance personalized therapies in the future.
Giovani et al. (Tue,) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: