Case Study: A 54yrs old hypertensive male patient from Nalgonda showed up into the OP with h/o left lung Pneumonia, fever and chest pain. The doctor recommended for Multi vital Remote home monitoring where the ECG changes met the criteria for type-1 Brugada pattern. Incidentally, this patient recently lost his brother for a sudden unexplained death. With EP’s intervention, patient underwent placement of Implantable Cardioverter-Defibrillator. Timely diagnosis and intervention “Could Save A Life ”
Brugada Syndrome: Brugada syndrome is a clinical condition that disrupts the heart’s normal rhythm characterized by ST elevation with successive negative T- wave in the right precordial leads without structural cardiac abnormalities. This condition leads to irregular heartbeats in the heart’s lower chambers (ventricles) causing the ventricular arrhythmia. If the condition is untreated, the irregular heartbeats can cause fainting, seizures, difficulty breathing, or sudden death. The complications of this syndrome characteristically occur when an affected person is resting or asleep. Brugada syndrome is reported to be responsible for up to 20% of sudden death in patients with structurally normal hearts. Understanding the causes and ECG changes of Brugada Syndrome: Brugada syndrome is caused by mutations in one of several genes. The most commonly mutated gene in this condition is SCN5A. This gene provides instructions for making a sodium channel, which normally transports positively charged sodium atoms (Na+ ions) into heart muscle cells. This type of ion channel plays a critical role in maintaining the heart’s normal rhythm. Mutations in the SCN5A gene alter the structure or function of the channel and reduces the flow of sodium ions into cells. This disruption in Na+ ion transport alters the way the heart beats, leading to abnormal heart rhythm (ST elevation with a successive T-wave).
Clinical Features of Brugada Syndrome: • Ventricular fibrillation (Irregular twitching of the heart muscle) • Syncope (Unconscious for a short period) • Nocturnal agonal respiration (Gasping or difficulty in breathing during night times) • Palpitations (Increased heartbeat) • Chest discomfort. • Aborted sudden cardiac death Importance of diagnosing Brugada Syndrome: Brugada syndrome affects both men and women, according to the medical literature, Brugada syndrome may account for 4 to 12 percent of all sudden deaths and up to 20 percent of all sudden deaths in individuals with structurally normal hearts. If the condition is not diagnosed on time and not treated immediately, this causes sudden breathing problems and unconsciousness, and loss of heart function leading to death, which often occurs while sleeping. Undiagnosed, Brugada syndrome has been estimated to have a mortality of 10% per year. Diagnosis of Brugada Syndrome: The clinical diagnosis can be done thorough clinical evaluation by conducting a complete medical check-up and verifying the family history of sudden cardiac death. A specialized test called an electrocardiogram (ECG or EKG) will be done which records the electrical activity of the heart and reveals abnormal electrical patterns. Physicians generally use drugs (Sodium channel blockers) that provoke characteristic EKG features of Brugada syndrome. Other diagnostic methods include, molecular genetic (DNA) testing, specifically sequence analysis of the SCN5A gene, as mutations in this gene are the most common cause of Brugada syndrome. In most cases, an electrocardiogram is recommended to determine the extent of disease in those affected. An electrophysiologic study may be used to assess the risk of sudden cardiac death.
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