SNP Shot: Genomic Insights

Brugada syndrome is a heart condition that affects the heart's electrical system, leading to an irregular heartbeat. This disruption specifically involves the lower heart chambers (ventricles), resulting in ventricular arrhythmia. Without treatment, this irregular rhythm can cause fainting, seizures, breathing problems, or even sudden death, often while a person is at rest or asleep.

While Brugada syndrome usually presents in adulthood, it can manifest at any age. Symptoms of arrhythmia, including sudden death, can range from early infancy to late adulthood, with sudden death typically occurring around age 40. Brugada syndrome may also be a contributing factor in some instances of sudden infant death syndrome (SIDS), a leading cause of death in infants under 1 year of age, characterized by unexpected death during sleep.

Sudden unexplained nocturnal death syndrome (SUNDS), marked by sudden cardiac arrest in young adults, typically during sleep at night, is now understood to be the same disorder as Brugada syndrome. SUNDS was first identified in Southeast Asian populations, where it's a significant cause of death.

Inheritance:

Brugada syndrome is typically inherited in an autosomal dominant manner. This means that having just one copy of the altered gene in each cell is enough to cause the condition. In the majority of cases, a person with Brugada syndrome has inherited the gene from a parent who also has the condition. However, in some instances, the condition arises from a new genetic mutation, occurring in individuals with no family history of Brugada syndrome.