Association Between Deleterious SCN5A Variants and Ventricular Septal Defect in Young Patients With Brugada Syndrome

This study aimed to investigate the clinical characteristics of young patients with Brugada syndrome (BrS) with ventricular septal defect (VSD) and explore their genetic backgrounds. VSD is the most frequently occurring congenital heart disease among children. In contrast, BrS is a rare hereditary d...

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Published in:JACC. Clinical electrophysiology 2022-03, Vol.8 (3), p.297-305
Main Authors: Suzuki, Keisuke, Sonoda, Keiko, Aoki, Hisaaki, Nakamura, Yuko, Watanabe, Seiichi, Yoshida, Yoko, Hoshino, Kenji, Ozawa, Junichi, Imamura, Tomohiko, Aiba, Takeshi, Kato, Koichi, Makiyama, Takeru, Kusano, Kengo, Horie, Minoru, Ohno, Seiko
Format: Article
Language:English
Subjects:
Brugada Syndrome
Child
genetics
Heart Septal Defects, Ventricular
Humans
Mutation - genetics
NAV1.5 Voltage-Gated Sodium Channel - genetics
SCN5A,ventricular septal defect
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Summary:This study aimed to investigate the clinical characteristics of young patients with Brugada syndrome (BrS) with ventricular septal defect (VSD) and explore their genetic backgrounds. VSD is the most frequently occurring congenital heart disease among children. In contrast, BrS is a rare hereditary disease that is responsible for ventricular fibrillation and sudden cardiac death. Owing to their low incidence, the genetic background and clinical characteristics of patients with BrS with VSD have not been elucidated yet. This study enrolled 36 individuals who were diagnosed with BrS when they were 
ISSN:2405-500X
2405-5018
DOI:10.1016/j.jacep.2022.01.007