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EnglishBrugada 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.
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| Titolo: | Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome | |
| Autori: | ||
| Data di pubblicazione: | 2017 | |
| Rivista: | ||
| Handle: | http://hdl.handle.net/11392/2375716 | |
| Appare nelle tipologie: | 03.1 Articolo su rivista |
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