Romano-Ward long-QT syndrome (LQTS) and Brugada syndrome are genetic conditions that affect the heart's electrical activity and can lead to life-threatening arrhythmias, or irregular heartbeats.
Romano-Ward LQTS is caused by mutations in one of several genes involved in the normal functioning of the heart's electrical system. This can cause the electrical signals that control the heartbeat to be slower or faster than normal, leading to a prolonged QT interval on an electrocardiogram (ECG), a test that measures the electrical activity of the heart. People with Romano-Ward LQTS are at risk of developing a dangerous heart rhythm called torsade de pointes, which can lead to fainting, seizures, or sudden cardiac death.
Brugada syndrome is caused by mutations in the SCN5A gene, which provides instructions for making a sodium channel protein that is involved in the electrical signals that control the heartbeat. This condition can cause a characteristic ECG pattern called a Brugada pattern, which is associated with a higher risk of sudden cardiac death.
The diagnosis of Romano-Ward LQTS and Brugada syndrome is usually made through a combination of genetic testing, medical history, and physical exam, as well as through laboratory tests, such as ECG, cardiac stress tests, and electroencephalography (EEG). Management of these conditions may include lifestyle changes, such as avoiding triggers that can worsen symptoms, as well as medications to regulate heart rhythm and prevent dangerous arrhythmias. In some cases, an implantable cardioverter-defibrillator (ICD) may be necessary to prevent sudden cardiac death. Early diagnosis and management are important to prevent or minimize the effects of the condition and to reduce the risk of long-term complications, such as heart disease, stroke, and damage to the eyes, nerves, and kidneys.
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