Resumo

PABLO MARQUEZ, B. de; OLIVERAS VILA, T.; BISBAL VAN BYLEY, F.  e  GRANGE SOBE, I.P.. KCNH2 gene mutation and long QT syndrome: A case report. Rev Andal Med Deporte [online]. 2016, vol.9, n.3, pp.138-141. ISSN 2172-5063.  https://dx.doi.org/10.1016/j.ramd.2016.02.003.

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.

Palavras-chave : Long QT syndrome; Cardiology; Genetics; Sport medicine; KCNH2 gene.

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