1. [Sinus node dysfunction, Brugada syndrome and long QT syndrome affecting the same patient : when genetics can't make head or tail of it].
- Author
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Porretta AP, Davoine E, Superti-Furga A, Bhuiyan ZA, Domenichini G, Herrera Siklody C, Pascale P, Haddad C, Schläpfer J, and Pruvot É
- Subjects
- Humans, Mutation, NAV1.5 Voltage-Gated Sodium Channel genetics, Phenotype, Syndrome, Brugada Syndrome genetics, Long QT Syndrome genetics, Sick Sinus Syndrome genetics
- Abstract
The gene SCN5A encodes the cardiac sodium channel which, through the conduction of Na+ current into the cell, generates the fast upstroke of the action potential of cardiomyocytes. Pathogenic variants of SCN5A have been causally associated to several hereditary cardiac diseases including, among others, Brugada syndrome, congenital long QT syndrome and sinus node dysfunction. Recently, overlap syndromes have been described that are characterized by the simultaneous expression of mixed clinical phenotypes among two or more hereditary cardiac diseases associated to the gene SCN5A (HCD-SCN5A). For this reason, it is time to rethink about HCD-SCN5A as different expressions of the same complex spectrum encompassing multiple clinical phenotypes with pronounced overlaps instead of as distinct clinical entities., Competing Interests: Les auteurs n’ont déclaré aucun conflit d’intérêts en relation avec cet article.
- Published
- 2020