• Xing Liu, Jianmei Zheng, Zhongcai Fan, and Li Rao.
• Department of Cardiovascular Medicine, West China Hospital, Sichuan University, Chengdu Department of Cardiovascular Medicine, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan Province, China.
• Medicine (Baltimore). 2017 Nov 1; 96 (47): e8695e8695.

RationaleBrugada syndrome (BrS) is a cardiac ion channel disease that is caused by an autosomal dominant genetic abnormality. A ventricular septal defect is a common congenital heart disease, in which genetic defects play a significant role.Patient ConcernsWe report an extremely rare case of a 42-year-old male with congenital heart disease, who suffered recurrent syncope and gastrointestinal bleeding. His electrocardiogram showed an unusual right bundle branch block-like pattern and ST-segment elevation in leads V1-V3.DiagnosesThe patient was eventually diagnosed with Brugada Syndrome Combined with a Ventricular Septal Defect.InterventionsThe patient was treated with ICD implants.OutcomesWe extracted his blood and performed whole exome sequencing. Whole exome sequencing revealed mutations in genes, which encode ion channels and proteins important for embryonic heart development. However, a novel mutation in the SCN5A gene was also found.LessonsTo our knowledge, this is the first genetically proven case of BrS combined with a ventricular septal defect.Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

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