Genética en los Síndromes de QT prolongado

摘要: The long QT syndrome (LQTS) is a genetic disorder characterized by prolongation of the interval in electrocardiogram (ECG) and propensity to "torsades de pointes" ventricular tachycardia frequently leading syncope, cardiac arrest, or sudden death usually young otherwise healthy individuals. LQTS caused mutations predominantly potassium sodium ion channel genes channel-interacting proteins positive overcharge myocardial cell with consequent heterogeneous repolarization various layers regions myocardium. These conditions facilitate early after-depolarization reentry phenomena underlying development polymorphic observed patients LQTS. Obtaining detailed patient history regarding events his/her family members combined careful interpretation standard 12-lead ECG (with precise measurement all available ECGs evaluation T-wave morphology) sufficient diagnose syndrome. show great heterogeneity has been identified more than 500 distributed 10 genes: KCNQ1, HERG, SCN5A, KCNE1, KCNE2, ANKB, KCNJ2, CACNA1A, CAV3 SCN4B. Despite advances field, 25-30% remain undiagnosed genetic. Genetic testing plays an important role particularly useful cases nondiagnostic borderline findings.