A balanced translocation disrupting SCN5A in a family with Brugada syndrome and sudden cardiac death

Heart Rhythm : the Official Journal of the Heart Rhythm Society
Laura YeatesRichard D Bagnall

Abstract

Brugada syndrome (BrS) is a primary arrhythmia syndrome affecting 1 in 2000 of the general population. Genetic testing identifies pathogenic variants in the sodium voltage-gated channel α-subunit 5 gene (SCN5A) in up to 25% of familial BrS. Balanced translocations, which involve the exchange of the ends of 2 different chromosomes, are found in approximately 1 in 500 people. They usually are benign and only rarely are reported to cause arrhythmogenic disorders. The purpose of this study was to identify the genetic mechanism underlying a family with BrS, sick sinus syndrome, cardiac hypertrophy, sudden cardiac death, and multiple miscarriages. We clinically evaluated family members with an electrocardiogram, 2-dimensional echocardiogram, and provocation testing with ajmaline challenge. Cytogenetic testing included karyotype and fluorescent in situ hybridization (FISH) analysis. We performed gene panel, exome, and genome sequencing analysis. Sequencing of 128 cardiac genes and exome sequencing of a family with BrS, sick sinus syndrome, cardiac hypertrophy, sudden cardiac death, and multiple miscarriages did not reveal a pathogenic variant. Karyotype and FISH analysis identified a balanced translocation breaking the SCN5A gene on c...Continue Reading

Citations

Nov 30, 2019·Journal of Neurology, Neurosurgery, and Psychiatry·Yan GeJosemir W Sander
Mar 4, 2020·International Journal of Molecular Sciences·Michelle M MonaskyCarlo Pappone
Sep 26, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Emma S SingerRichard D Bagnall
Aug 23, 2020·International Journal of Molecular Sciences·Michelle M MonaskyCarlo Pappone

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