Genetic basis in Brugada Syndrome – Cardiology MCQ – Answer
Genetic basis in Brugada Syndrome has been identified in — percentage of cases currently – Correct answer: a) 30%
Though autosomal dominant pattern of inheritance has been noted in Brugada syndrome, pathogenic mutations have not been detected in 70% of the cases . The first mutation to be identified in the syndrome was in the sodium channel gene SCN5A in 1998 . Even today most of the mutations detected in the syndrome are in the same gene (21%). Several other potential genes have been identified (CACNA1C, GPD1L, HEY2, PKP2, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SLMAP, and TRPM4), but all of them together contribute to only 2% – 5% of the diagnoses cases .