Department of Pediatrics, Shin Kong Wu Ho-Su Memorial Hospital, Taipei, Taiwan.
Ann Thorac Surg. 2012 Nov;94(5):1627-33. doi: 10.1016/j.athoracsur.2012.06.063. Epub 2012 Aug 9.
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.
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.
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).
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.
肺静脉狭窄和室间隔缺损（PA-VSD）患者中常存在遗传综合征，尤其是 22q11 缺失（del22q11）综合征，但它们与长期结局的关系存在差异。本研究旨在评估 PA-VSD 完全修复后的长期结局，并确定遗传综合征的影响。
我们回顾了 1978 年至 2010 年间接受原发性或分期修复的 125 例 PA-VSD 患者的经验。遗传综合征的评估包括临床特征、细胞遗传学分析以及荧光原位杂交或多重连接依赖性探针扩增。
26 例（20.8%）患者存在遗传综合征，包括 16 例 del22q11 综合征、2 例 21 三体综合征和 8 例其他综合征。综合征组和非综合征组之间，肺动脉发育不全的患病率无显著差异。经过 1069 患者年的随访，无综合征患者的 20 年生存率为 90%±6%，而有综合征患者的生存率为 14%±23%（p<0.01）。多因素分析确定遗传综合征的存在是住院和晚期死亡的重要危险因素。亚组分析显示，除 del22q11 外的遗传综合征与较差的结局相关。修复后 10 年无心脏再介入治疗的比率为 53%±11%，修复前的肺动脉发育不全是主要危险因素（p=0.02）。
遗传综合征显著影响 PA-VSD 修复后的生存，而遗传综合征并不是再介入的额外危险因素。在为患儿家长提供咨询时，应注意尽管综合征患者的修复可行，但长期结局可能并不理想。
