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Case Reports
. 2017;137(4):256-260.
doi: 10.1159/000471792. Epub 2017 May 12.

Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome

Francesca Gualandi  1 , Fatima Zaraket, Michele Malagù, Giulia Parmeggiani, Cecilia Trabanelli, Sergio Fini, Xiao Dang, Xiaoming Wei, Mingyan Fang, Matteo Bertini, Roberto Ferrari, Alessandra Ferlini
Affiliations
Case Reports

Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome

Francesca Gualandi et al. Cardiology. 2017.

Abstract

Brugada syndrome is a primary arrhythmic syndrome that accounts for 20% of all sudden cardiac death cases in individuals with a structurally normal heart. Pathogenic variants associated with Brugada syndrome have been identified in over 19 genes, with SCN5A as a pivotal gene accounting for nearly 30% of cases. In contrast to other arrhythmogenic channelopathies (such as long QT syndrome), digenic inheritance has never been reported in Brugada syndrome. Exploring 66 cardiac genes using a new custom next-generation sequencing panel, we identified a double heterozygosity for pathogenic mutations in SCN5A and TRPM4 in a Brugada syndrome patient. The parents were heterozygous for each variation. This novel finding highlights the role of mutation load in Brugada syndrome and strongly suggests the adoption of a gene panel to obtain an accurate genetic diagnosis, which is mandatory for risk stratification, prevention, and therapy.

Keywords: Brugada syndrome; Digenic inheritance; Mutation load.

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