Case report: an unusual case of Brugada syndrome combined with a ventricular septal defect

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.