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Article

A novel SCN5A mutation demonstrating a variety of clinical phenotypes in familial sick sinus syndrome.

Internal medicine (Tokyo, Japan) - 1 Jan 2013

Nakajima Seiko, Makiyama Takeru, Hanazawa Koji, Kaitani Kazuaki, Amano Masashi, Hayama Yukiko, Onishi Naoaki, Tamaki Yodo, Miyake Makoto, Tamura Toshihiro, Kondo Hirokazu, Motooka Makoto, Izumi Chisato, Nakagawa Yoshihisa, Horie Minoru

Abstract excerpt

Mutations in SCN5A have been reported to cause several types of hereditary arrhythmias (overlap syndrome). We herein report two patients with the overlapping phenotypes of juvenile sick sinus syndrome (SSS) and Brugada syndrome (BrS). The proband was a man who was in his twenties and had been diagnosed with both SSS and ventricular tachycardia (VT). A pilsicainide challenge test revealed a coved type ST segment...

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Identifiers

PMID: 23955615
DOI: 10.2169/internalmedicine.52.0085

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