Case report: an unusual case of Brugada syndrome combined with a ventricular septal defect. Issue 47 (November 2017)

• Record Type: Journal Article
• Authors: Liu, Xing; Zheng, Jianmei; Fan, Zhongcai; Rao, Li
• Other Names: Schaller. Bernhard section editor.
• Is Part Of: Medicine. Volume 96:Issue 47(2017)
• Publication Date: 2017-11
• Subjects: Brugada syndrome -- electrocardiogram -- syncope -- ventricular septal defect -- whole exome sequencing; Medicine -- Periodicals; Medicine -- Periodicals; Médecine -- Périodiques; Geneeskunde; Medicine; Periodicals; Periodicals; 610.5
• DOI: 10.1097/MD.0000000000008695
• Languages: English
• ISSNs: 0025-7974

Abstract

Abstract: Rationale: Brugada 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 Concerns: We 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. Diagnoses: The patient was eventually diagnosed with Brugada Syndrome Combined with a Ventricular Septal Defect. Interventions: The patient was treated with ICD implants. Outcomes: : We 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. Lessons: To our knowledge, this is the first genetically proven case of BrS combined with a ventricular septal defect.