Brugada Syndrome
Cardiology section
Brugada syndrome disrupts the heart's normal rhythm, specifically causing irregular heartbeats in the lower chambers (ventricles), known as ventricular arrhythmia. Untreated, these irregular heartbeats can result in fainting (syncope), seizures, difficulty breathing, or sudden death. Typically, these complications occur during rest or sleep. While Brugada syndrome typically manifests in adulthood, it can develop at any stage of life, and symptoms related to arrhythmias, including sudden death, can occur from early infancy to late adulthood. Sudden death tends to occur
around age 40. Notably, Brugada syndrome may elucidate some cases of sudden infant death syndrome (SIDS), a significant cause of death in infants under one year, characterized by unexplained and abrupt death, often during sleep. Sudden Unexplained Nocturnal Death Syndrome (SUNDS) is a condition marked by unexpected cardiac arrest in young adults, typically during nighttime sleep. Originally identified in Southeast Asian populations as a major cause of death, researchers have established that SUNDS and Brugada syndrome are the same disorder.
ABOUT BRUGADA SYNDROME
UNDERSTANDING brugada syndrome
Insights into Brugada Syndrome
Brugada syndrome is primarily associated with genetic mutations affecting ion channels in the heart, which can lead to abnormal electrical activity and an increased risk of dangerous arrhythmias.
The most common gene associated with Brugada syndrome is SCN5A, but several other genes have also been implicated
Key genes associated with ARVC include:
SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5)
CACNA1C (Calcium Voltage-Gated Channel Subunit Alpha1 C)
SCN10A (Sodium Voltage-Gated Channel Alpha Subunit 10)
GPD1L (Glycerol-3-Phosphate Dehydrogenase 1-Like)
HCN4 (Hyperpolarization-Activated Cyclic Nucleotide-Gated Potassium Channel 4)
These genes play crucial roles in cardiac ion channel function and electrical conduction, and mutations in these genes can lead to the development of Brugada syndrome.
However, it's important to note that Brugada syndrome is a genetically heterogeneous disorder, and additional genes and genetic factors may also contribute to its pathogenesis. Genetic testing can help identify mutations associated with Brugada syndrome and guide clinical management and treatment decisions for affected individuals and their families.