Mahle William T, Crisalli Joseph, Coleman Karlene, Campbell Robert M, Tam Vincent K H, Vincent Robert N, Kanter Kirk R
Children's Healthcare of Atlanta and Division of Pediatrics, Emory University School of Medicine, Atlanta, Georgia 30329, USA.
Ann Thorac Surg. 2003 Aug;76(2):567-71. doi: 10.1016/s0003-4975(03)00516-2.
The 22q11.2 deletion (del22q) is present in many patients with conotruncal abnormalities including pulmonary atresia with ventricular septal defect (PA/VSD). We sought to determine the impact of the del22q on outcome in subjects with PA/VSD.
We reviewed the experience for all patients with PA/VSD who were born between January 1993 and April 2002 and presented to our institution. Patients with conotruncal defects were routinely evaluated for genetic disorders including del22q. Fluorescence in situ hybridization was used to test for del22q.
There were 67 subjects with PA/VSD who presented during that time period; testing for del22q was performed in 58 of 67 (87%) and these 58 patients comprised the study population. The 22q11.2 deletion was present in 20 of 58 (34%) patients tested. Major aortopulmonary collaterals were defined by angiography and were present in 27 (47%). These collaterals were significantly more common among subjects with del22q (13 of 20, 65%; p = 0.04). The median cross sectional area of the pulmonary arteries, the Nakata index, was significantly less for patients with del22q (41 versus 142 mm(2)/m(2); p = 0.006). There were 3 subjects, all of whom had del22q, who did not undergo surgery owing to markedly hypoplastic pulmonary arteries. Of the remaining 55 patients, 53 had arteriopulmonary shunt with or without unifocalization as the initial procedure and 35 patients have undergone complete repair. There were 8 operative deaths and 1 nonoperative death. The 5-year survival was 36% for patients with del22q versus 90% for patients without del22q. The 22q11.2 deletion was a significant risk factor for death, even after adjusting for the presence of major aortopulmonary collaterals (p = 0.004). There was no significant difference between the two groups with respect to the incidence of serious viral, bacterial, or fungal infections in the perioperative period.
Patients with del22q and PA/VSD are at increased risk for death owing to a variety of factors including less favorable pulmonary artery anatomy. A better understanding of del22q, pulmonary artery anatomy, and outcome is required.
22q11.2 缺失（del22q）存在于许多患有圆锥动脉干畸形的患者中，包括肺动脉闭锁合并室间隔缺损（PA/VSD）。我们试图确定 del22q 对 PA/VSD 患者预后的影响。
我们回顾了1993年1月至2002年4月间出生并到我们机构就诊的所有 PA/VSD 患者的情况。对患有圆锥动脉干缺损的患者常规评估包括 del22q 在内的遗传疾病。采用荧光原位杂交检测 del22q。
在该时间段内有67例 PA/VSD 患者就诊；67例中的58例（87%）进行了 del22q 检测，这58例患者构成研究人群。检测的58例患者中有20例（34%）存在22q11.2 缺失。通过血管造影确定主要体肺侧支血管，27例（47%）存在。这些侧支血管在 del22q 患者中明显更常见（20例中的13例，65%；p = 0.04）。del22q 患者肺动脉的中位横截面积、中田指数明显更小（41 对 142 mm²/m²；p = 0.006）。有3例患者，均有 del22q，因肺动脉明显发育不良未接受手术。其余55例患者中，53例最初接受了体肺分流术，伴或不伴单灶化手术，35例患者接受了完全修复。有8例手术死亡和1例非手术死亡。del22q 患者的5年生存率为36%，无 del22q 患者为90%。即使校正主要体肺侧支血管的存在情况后，22q11.2 缺失仍是死亡的显著危险因素（p = 0.004）。两组围手术期严重病毒、细菌或真菌感染的发生率无显著差异。
del22q 和 PA/VSD 患者由于多种因素，包括肺动脉解剖结构不佳，死亡风险增加。需要更好地了解 del22q、肺动脉解剖结构和预后情况。
