Congenital Long QT Syndrome

Congenital Long QT Syndrome is a heart condition that affects the electrical system controlling the heartbeat. It involves a delay in the heart's electrical recovery after each beat, which can cause an abnormally long QT interval on an electrocardiogram (ECG). This condition primarily affects the cardiac rhythm, increasing the risk of dangerous irregular heartbeats called arrhythmias. People with this syndrome may experience symptoms like fainting, seizures, or sudden cardiac arrest, especially during exercise or emotional stress. The condition is inherited and caused by mutations in genes that regulate heart ion channels, which are essential for normal electrical activity.

Congenital Long QT Syndrome (LQTS) is a genetic disorder characterized by a prolonged QT interval on the ECG due to delayed ventricular repolarization. It results from mutations in genes encoding cardiac ion channels, most commonly KCNQ1, KCNH2, and SCN5A, leading to dysfunctional potassium or sodium channels. This ion channel dysfunction prolongs the action potential duration, predisposing to torsades de pointes and other life-threatening ventricular arrhythmias. Clinically, LQTS presents with syncope, seizures, or sudden cardiac death, often triggered by exercise, stress, or auditory stimuli. Diagnosis is critical because untreated LQTS carries a high risk of fatal arrhythmias, but appropriate management can significantly reduce morbidity and mortality.