KCNH2 gene mutation and long QT syndrome: A case report

  • B. de Pablo Márquez Servicio Medicina Deportiva, Club Natació Terrassa, Terrassa, España
  • T. Oliveras Vilà Servicio de Cardiología, Hospital Universitari Germans Trias i Pujol, Badalona, España
  • F. Bisbal van Byley Servicio de Cardiología, Hospital Universitari Germans Trias i Pujol, Badalona, España
  • I.P. Grange Sobe Servicio de Cardiología Pediátrica, Hospital Universitari Vall d’Hebron, Barcelona, España
Keywords: Síndrome QT largo, Cardiología, Genética, Medicina del deporte, Gen KCNH2 Long QT syndrome, Cardiology, Genetics, Sport medicine, KCNH2 gene Síndrome QT largo, Cardiologia, Genética, Medicina desportiva, Gene KCNH2

Abstract

We report a carrier of the KCNH2 gene for the long QT syndrome. He was diagnosed after the sudden death of a relative. The long QT syndrome (and other canalopathies) genetic study is being a new weapon for the prevention of sudden death. In last years, clinical guidelines for the management of genetic carriers without phenotypic manifestations are being published.

Published
2018-04-24
Issue
Vol. 9 No. 3 (2016): September 2016
Section
Casos Clínicos
Page/s
138-41