Brugadasyndrooma

Brugadasyndrooma is a rare genetic disorder that affects the electrical activity of the heart. It is characterized by abnormalities in the electrocardiogram (ECG) that can increase the risk of dangerous heart rhythms, particularly ventricular fibrillation. This can lead to sudden fainting spells (syncope) and, in some cases, sudden cardiac death. The condition is named after the Spanish cardiologists Josep Brugada and Pedro Brugada, who first described it in 1992.

The genetic basis of Brugadasyndrooma is largely due to mutations in the SCN5A gene, which provides instructions for making a protein that forms a sodium channel in the heart muscle cells. These sodium channels play a crucial role in the flow of electrical impulses that regulate the heartbeat. When these channels are not functioning correctly due to a mutation, the electrical signals can become disrupted. While SCN5A mutations are the most common cause, mutations in other genes have also been identified.

Symptoms of Brugadasyndrooma can vary significantly. Some individuals may have no symptoms at all and the condition is discovered incidentally during an ECG. Others may experience palpitations, dizziness, fainting, or shortness of breath. These symptoms are often more noticeable during rest, sleep, or fever. The risk of sudden cardiac events is higher in certain situations, such as during sleep, after consuming alcohol, or when taking certain medications that can affect sodium channels.

Diagnosis of Brugadasyndrooma relies on identifying characteristic ECG patterns and ruling out other causes. In some cases, a drug challenge test with medications that unmask the ECG abnormalities may be performed. There is no cure for Brugadasyndrooma, but management focuses on preventing potentially life-threatening arrhythmias. For individuals at high risk, an implantable cardioverter-defibrillator (ICD) may be recommended to shock the heart back into a normal rhythm if a dangerous arrhythmia occurs. Avoiding triggers such as fever and certain medications is also important.