McElhinney Doff B, Driscoll Deborah A, Levin Elissa R, Jawad Abbas F, Emanuel Beverly S, Goldmuntz Elizabeth
Cardiology, Children's Hospital of Philadelphia, Pennsylvania 19104-4318, USA.
Pediatrics. 2003 Dec;112(6 Pt 1):e472. doi: 10.1542/peds.112.6.e472.
A ventricular septal defect (VSD) is the most common form of congenital heart disease and is one of the most common cardiovascular anomalies in individuals with chromosome 22q11 deletion syndrome. However, the frequency of a chromosome 22q11 deletion in patients with a VSD is not known. In addition, among patients with a VSD, it is not clear whether particular types of VSD or associated cardiovascular phenotypic features are associated with a chromosome 22q11 deletion.
We prospectively enrolled 125 patients with a conoventricular (n = 100), posterior malalignment (n = 14), or conoseptal hypoplasia (n = 11) VSD who were admitted to Children's Hospital of Philadelphia between November 1991 and December 2001. Patients were studied for a chromosome 22q11 deletion by using fluorescence in situ hybridization.
A chromosome 22q11 deletion was detected in 12 (10%) of the 125 patients. Anatomic features that were significantly associated with a chromosome 22q11 deletion included abnormal aortic arch sidedness, an abnormal aortic arch branching pattern, a cervical aortic arch, and discontinuous pulmonary arteries. There was no correlation between the type of VSD and chromosome 22q11 deletion. Of 20 patients with an abnormal aortic arch and/or discontinuous pulmonary arteries, 45% had a chromosome 22q11 deletion compared with only 3% of those with a left aortic arch, normal aortic arch branching pattern, and continuous branch pulmonary arteries
A chromosome 22q11 deletion is common in individuals with a conoventricular, posterior malalignment, or conoseptal hypoplasia VSD and anomalies of the aortic arch or branch pulmonary arteries. On the basis of these findings, at a minimum, we recommend testing for a chromosome 22q11 deletion in patients with these types of VSD who have abnormalities of aortic arch sidedness or branching, a cervical aortic arch, and/or discontinuous pulmonary arteries. Testing of patients with these types of VSD but a normal aortic arch and pulmonary arteries may be performed routinely or guided by the presence of associated noncardiovascular features of chromosome 22q11 deletion syndrome.
室间隔缺损（VSD）是最常见的先天性心脏病形式，也是22q11染色体缺失综合征患者中最常见的心血管异常之一。然而，VSD患者中22q11染色体缺失的频率尚不清楚。此外，在VSD患者中，尚不清楚特定类型的VSD或相关的心血管表型特征是否与22q11染色体缺失有关。
我们前瞻性纳入了1991年11月至2001年12月期间入住费城儿童医院的125例患有圆锥心室型（n = 100）、后位对位不良型（n = 14）或圆锥间隔发育不全型（n = 11）VSD的患者。通过荧光原位杂交研究患者是否存在22q11染色体缺失。
125例患者中有12例（10%）检测到22q11染色体缺失。与22q11染色体缺失显著相关的解剖学特征包括主动脉弓位置异常、主动脉弓分支模式异常、颈主动脉弓和肺动脉中断。VSD类型与22q11染色体缺失之间无相关性。在20例主动脉弓异常和/或肺动脉中断的患者中，45%有22q11染色体缺失，而左主动脉弓、主动脉弓分支模式正常且肺段动脉连续的患者中只有3%有该缺失。
22q11染色体缺失在患有圆锥心室型、后位对位不良型或圆锥间隔发育不全型VSD以及主动脉弓或肺段动脉异常的个体中很常见。基于这些发现，至少我们建议对患有这些类型VSD且有主动脉弓位置或分支异常、颈主动脉弓和/或肺动脉中断的患者进行22q11染色体缺失检测。对于患有这些类型VSD但主动脉弓和肺动脉正常的患者，可常规检测或根据22q11染色体缺失综合征相关的非心血管特征进行检测。
