Case report

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.