Background-Data on the clinical presentation and genotype-phenotype correlation of patients with congenital long-QT syndrome (LQTS) diagnosed at perinatal through infantile period are limited. A nationwide survey was conducted to characterize how LQTS detected during those periods is different from that in childhood or adolescence. Methods and Results-Using questionnaires, 58 cases were registered from 33 institutions. Diagnosis (or suspicion) of LQTS was made during fetal life (nϭ18), the neonatal period (nϭ31, 18 of them at 0 to 2 days of life), and beyond the neonatal period (nϭ9). Clinical presentation of LQTS included sinus bradycardia (nϭ37), ventricular tachycardia/torsades de pointes (nϭ27), atrioventricular block (nϭ23), family history of LQTS (nϭ21), sudden cardiac death/aborted cardiac arrest (nϭ14), convulsion (nϭ5), syncope (nϭ5), and others. Genetic testing was available in 41 (71%) cases, and the genotype was confirmed in 29 (71%) cases, consisting of LQT1 (nϭ11), LQT2 (nϭ11), LQT3 (nϭ6), and LQT8 (nϭ1). Ventricular tachycardia/torsades de pointes and atrioventricular block were almost exclusively observed in patients with LQT2, LQT3, and LQT8, as well as in those with no known mutation. In LQT1 patients, clues to diagnosis were mostly sinus bradycardia or family history of LQTS. Sudden cardiac death/aborted cardiac arrest (nϭ14) was noted in 4 cases with no known mutations as well as in 4 genotyped cases, although the remaining 6 did not undergo genotyping. Their subsequent clinical course after aborted cardiac arrest was favorable with administration of -blockers and mexiletine and with pacemaker implantation/implantable cardioverter-defibrillator. Conclusions-Patients with LQTS who showed life-threatening arrhythmias at perinatal periods were mostly those with LQT2, LQT3, or no known mutations. Independent of the genotype, aggressive intervention resulted in effective suppression of arrhythmias, with only 7 deaths recorded. (Circ Arrhythm Electrophysiol. 2010;3:10-17.)
