Novembro 11, 2024 Author : Renato Margato Brugada syndrome is a rare heart disease. However, it is feared disease as its first clinical manifestation can be sudden death. Sudden cardiac death in someone who has an structurally normal heart is rare, accounting for about 5% to 10% of cases. These include those due to Brugada syndrome, a hereditary disease due to mutations in a gene that affects the electrical conduction of the heart and is associated with a greater risk of cardiac arrhythmias and sudden death. It owes its name to Pedro and Josep Brugada, who described it for the first time in 1992. The incidence varies depending on the world region, and is higher in Southwest Asia than in Europe, where it is 1-5 cases in 10 thousand people. Among those affected, around 80% are men. People with this syndrome usually have a characteristic pattern on the electrocardiogram (ECG), known as the Brugada pattern. It often appears in asymptomatic individuals, but may be associated with symptoms such as fainting, palpitations and sudden death. Sometimes these patients have a close family history of sudden death at young ages of unknown cause. Diagnosis Diagnosis of Brugada syndrome is challenging, as the Brugada pattern may not be evident, be intermittent, or be confused with other clinical or pharmacological conditions. To confirm the diagnosis of Brugada syndrome, the ajmaline provocation test is one of the tools used. Ajmaline is a medication which can induce the Brugada pattern in people predisposed to the syndrome, revealing the underlying electrical abnormality. This test, which must be performed in a strict clinical monitoring environment, involves administering a controlled dose of the medication intravenously, with continuous recording of the ECG. Changes identified on the electrocardiogram allow the doctor to conclude the appropriate diagnosis. Genetic testing can also be helpful for patients and their families. It helps to identify some of the mutations associated with Brugada syndrome and confirm the diagnosis. Brugada syndrome treatment Treatment varies depending on the symptoms severity. In asymptomatic people, surveillance is the main focus. In patients with a history of arrhythmias or syncope episodes, implantation of a cardioverter defibrillator (CDI) may be recommended. Patients with Brugada syndrome must be advised to avoid triggers that may worsen the condition, including: Some medications; Alcoholic beverages; Recreational drugs. Brugada syndrome is an example of how inherited genetic abnormalities can be associated with heart rhythm disorders. It is an area of research that remains important, as there is still much to be clarified about the identification of cases and the long-term risk. Early diagnosis and adequate guidance are essential to improve patients’ prognosis. Meet the Cardiology clinical team from Hospital da Luz network. The content published in the Health Guide is intended for the general public and is provided for informational and educational purposes only. It does not replace individual medical assessment, diagnosis, or personalized clinical advice from a qualified healthcare professional. The content is produced or reviewed by physicians and other healthcare professionals at Hospital da Luz and is based on the knowledge available at the time of publication or the most recent update, as indicated at the beginning of each item.
