Chen M.-Y.SHUENN-NAN CHIUJOU-KOU WANGCHUN-WEI LUMING-TAI LINCHUNG-I CHANGING-SH CHIUYIH-SHARNG CHENSHYH-JYE CHENMEI-HWAN WU2019-11-272019-11-2720120003-4975https://www.scopus.com/inward/record.uri?eid=2-s2.0-84867814069&doi=10.1016%2fj.athoracsur.2012.06.063&partnerID=40&md5=d75514261b526475a009cc0cb6ad439dhttps://scholars.lib.ntu.edu.tw/handle/123456789/434042Background: Genetic syndromes, especially 22q11 deletion (del22q11) syndrome, are common in patients with pulmonary atresia and ventricular septal defect (PA-VSD), but their association with long-term outcomes varies. The purpose of this study was to evaluate the long-term outcome after complete repair of PA-VSD and to determine the impact of genetic syndromes. Methods: We reviewed our experience of 125 patients with PA-VSD who received primary or staged repair between 1978 and 2010. Evaluations for genetic syndromes included clinical features, cytogenetic analysis, and fluorescence in situ hybridization or multiplex ligation-dependent probe amplification. Results: Genetic syndromes were documented in 26 patients (20.8%), including del22q11 in 16 patients, trisomy 21 in 2 patients, and other syndromes in 8 patients. The prevalence of hypoplastic pulmonary arteries was not significantly different between the syndromic and nonsyndromic groups. After 1,069 patient-years of follow-up, 20-year survival was 90% ± 6% in patients without syndromes and 14% ± 23% in patients with syndromes (p < 0.01). Multivariate analysis identified the presence of a genetic syndrome as an important risk factor for hospital and late mortality. Subgroup analysis showed that genetic syndromes other than del22q11 were associated with worse outcome. The rate of 10-year freedom from cardiac reintervention after repair was 53% ± 11%, with hypoplastic pulmonary arteries before repair as a major risk factor (p = 0.02). Conclusions: Genetic syndromes significantly affect survival after repair of PA-VSD, whereas genetic syndromes do not represent additional risk for reintervention. Repair is feasible in patients with syndromes, but suboptimal long-term outcome should be addressed when counseling parents. ? 2012 The Society of Thoracic Surgeons.[SDGs]SDG3adult; article; clinical feature; cytogenetics; female; fluorescence in situ hybridization; follow up; genetic disorder; heart ventricle septum defect; human; major clinical study; male; mortality; multiplex ligation dependent probe amplification; outcome assessment; priority journal; pulmonary valve atresia; risk factor; survival rate; thorax surgery; trisomy 21; Adolescent; Adult; Child; Child, Preschool; Female; Heart Septal Defects, Ventricular; Humans; Infant; Infant, Newborn; Male; Pulmonary Atresia; Retrospective Studies; Risk Factors; Survival Rate; Syndrome; Time Factors; Treatment Outcome; Young Adultjournal article10.1016/j.athoracsur.2012.06.063228846012-s2.0-84867814069