Case report: an unusual case of Brugada syndrome combined with a ventricular septal defect: A case report
Xing Liu1, Jianmei Zheng, Zhongcai Fan
1Department of Cardiovascular Medicine, West China Hospital, Sichuan University, Chengdu Department of Cardiovascular Medicine, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan Province, China.
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.
Related Concept Videos
01:24Data Reporting and Recording
01:25Types of Reports I: Hands-off Report
Following are the key components and categories of hand-off reports:
Purpose and Process:
01:21Types of Reports II: Incident or Occurrence Report
Purposes:
In the healthcare industry, reports play a crucial role in documenting incidents within an agency. The primary objective of these reports is to ensure patient safety, uphold the...
01:26Types of Reports III: Telephone and Verbal Reports
Here's an overview of each type:
Telephone Orders
02:11Reporter Genes
01:20Introduction to Documentation and Reporting
Nursing documentation records essential information and details regarding a patient's care and treatment in written or electronic form. It is a critical aspect of nursing practice that involves documenting assessments, interventions, outcomes, and other relevant details about a patient's health status.
Documentation maps the patient's health journey by creating a comprehensive...