Physical exam: Although a physical exam will not lead directly to a diagnosis of Brugada syndrome, it is important to rule out other potential causes of symptoms, such as arrhythmia, which is abnormal electrical activity in the heart. In addition to a physical exam, a clinician should obtain a detailed drug history, because nongenetic forms of Brugada syndrome may be caused by use of certain drugs, such as those used to treat some forms of arrhythmia, angina (chest pain), high blood pressure, and depression and other mental illnesses. The genetic form of Brugada syndrome may be exacerbated by the use of these same drugs.
Electrocardiogram (ECG): A diagnosis of Brugada syndrome may be made after an electrocardiogram (ECG), which records the electrical activity of the heart. During an ECG, six small adhesive electrode pads are placed across the chest from the lower sternum (breastbone) to an area below the left armpit. Other pads will be placed on each of arm and leg. Insulated wires will connect each of these 10 pads to the ECG machine. Once these wires, called leads, are attached, the ECG records a few heartbeats on a single sheet of graph paper. Brugada syndrome is characterized by a distinctive ECG pattern with an elevated ST segment, which represents the period between the positive and negative charges of the heart cell's membrane, or J wave. The J wave is a deflection with a dome or hump configuration occurring at a certain point in an ECG. In the case of Brugada syndrome, this pattern occurs from the leads on the right side of the chest.
Genetic testing: If Brugada syndrome is suspected, a deoxyribonucleic acid (DNA) test may be performed to confirm a diagnosis. A sample of the patient's blood is taken and analyzed in a laboratory for the defect in the SCN5A gene. If this defect is detected, a positive diagnosis may be made. However, a negative result generally does not rule out causal gene mutations, and because the genetic cause of the remaining cases of Brugada syndrome are still under investigation, diagnosis should not be based solely on genetic testing.
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