Genetic Profile of Pediatric-Onset Cardiac Channelopathies

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Abstract

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.

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