Lifestyle Impact and Genotype-Phenotype Correlations in Brugada Syndrome

Abstract Brugada syndrome is an inherited arrhythmia characterized by a particular ECG pattern typically distinguished by a coved-type ST segment elevation in the right precordial leads, conferring a high risk of sudden cardiac death in young adults and less frequently in infants and children. The ST segment elevation in the Brugada syndrome can be very dynamic and modified by several factors such as fever, diet, and raised plasma insulin concentration, autonomic activity, alcohol and cocaine toxicity, and medication. Approximately 20%–25% of BrS patients are genetically diagnosed with pathogenic variations in SCN5A gene encoding for the cardiac sodium channel. However, known BrS-susceptibility genes can only explain 30%–35% of clinically diagnosed cases, indicating that 65%–70% of BrS patients remain genetically unsolved. The incomplete penetrance of BrS mutations and the dynamic ECG manifestations confer difficulties in establishing a clear genotype-phenotype correlation. Brugada syndrome patients are particularly recommended to follow a lifestyle where the ECG triggering factors should be avoided in order to minimize the risk of Brugada-associated arrhythmia and sudden death.