Current perspectives on congenital long QT syndrome

Congenital long QT syndrome is a genetic disorder characterized by prolonged QT interval on electrocardiogram and increased risk of sudden cardiac death from ventricular arrhythmias. In long QT syndrome, genes that encode for the various cardiac ion channels or regulatory proteins of these channels are mutated. The various mutations individually lead to a disruption of the normal cardiac myocyte action potential, and thus leading to a propensity for ventricular arrhythmias. Diagnosis can be difficult with patient presentations ranging from palpitations to syncope to sudden cardiac death. The QT interval can also vary overtime, often requiring further testing to support the diagnosis. Recently developed genetic testing can be used to identify the responsible genes inpatients with known disease. It can also be used to genotype the affected patients family members. The current test panel only recognizes common mutations resulting in a falsely negative test for those with a rare or unidentified variant. For treatment, beta-blocker therapy is recommended for all patients, and implantable cardioverter-defibrillator (ICD) placement is recommended for those who are at high risk for a cardiac event. Future investigations will concentrate genotype-guided risk stratification for ICD placement and on genotype-specific pharmacological therapy. (Anadolu Kardiyol Derg 2009, 9: Suppl 2; 3-11)