The outcome of genetically defined Long QT syndrome

610;

University:서울대학교 대학원

关键词: 610;   

Others  :  http://s-space.snu.ac.kr/bitstream/10371/151456/1/000000154031.pdf

美国|英语

来源: Seoul National University Open Repository

【 摘 要 】

45.7%). A median age of first symptom was 10.5 years (0.00 – 80). The first symptom was syncope or seizure in 38 (54.3%), aborted cardiac arrest in 21 (30%), and fetal arrhythmia in 3 (4.2%). The LQTS was diagnosed at their median age of 11 years (0.003 – 80). In 90 of them, genotype was performed: LQT1 (27.8%), LQT2 (12.2%), LQT3 (15.6%), LQT 4-8 (6.6%), JLNS (5.6%) and VUS (7.8%). Three of them (3.3%) showed multiple mutations. The 72 LQTS probands and the 18 genetically proven family members were evaluated. Over the family group, the penetrance of LQTS genetic mutation was 51 %. The QTc interval was significantly longer in symptomatic group (533.5ms, 505ms, p=0.003). Patients with JLNS had a significantly younger median age of diagnosis compared with the rest (p=0.011). Over the median follow-up of 6.75 (1.5-20.0) years, 81 (77.1%) patients have not experienced an LQTS-triggered BCE. During median 6.67 years follow-up in symptomatic group, the treatment composed no therapy in 10 (14%), β-blockers in 56 (80%), and implantable cardioverter defibrillators (ICD) in 25 (35%, median 14.8 years, 2.25 – 80). Flecainide or mexiletine was added in 4 of LQT3, 2 of LQT4-7 patients. The left cardiac sympathetic denervation (LCSD) was conducted in 5 LQT1 patients, 1 LQT3 patient and 1 LQT4 with concomitant RyR2 mutation. Among 25 patients who received an ICD, 14 patients confirmed the genetic findings (1 LQT1, 2 LQT2, 8 LQT3, 1 LQT7, and 2 LQTM). During the median post-ICD follow up 6.83 years (1.58 – 20.0), 13 patients (2 LQT2, 6 LQT3, 2 LQTM, 1 no test/Schwartz, high risk, and 2 G(-)/P(+)) experienced an appropriate, life-saving therapy and all survived except one LQT3 patient with cardiomyopathy. Conclusion: Recently, with the progression of genotype in LQTS, the recognition of the molecular pathogenesis and the genetically tailored therapy are fostered. Devastating cardiac events was prevented with good long term outcome in the genetically confirmed and properly managed LQTS patients in this study. It may be the crucially important that the rigorous genetic analysis, the risk stratification, and the appropriate therapy based LQTS related individual phenotype.