McElhinney Doff B, Jacobs Ian, McDonald-McGinn Donna M, Zackai Elaine H, Goldmuntz Elizabeth
Division of Pediatric Cardiology, The Children's Hospital of Philadelphia, Abramson Research Center 702A, 3516 Civic Center Blvd., Philadelphia, PA 19104-4318, USA.
Int J Pediatr Otorhinolaryngol. 2002 Oct 21;66(1):23-27. doi: 10.1016/s0165-5876(02)00184-2.
The purpose of this study was to estimate the frequency of chromosomal and cardiovascular anomalies associated with a congenital laryngeal web.
We reviewed our experience with 25 patients who underwent intervention for a symptomatic congenital laryngeal web between 1988 and 2000, in order to investigate the frequency of associated chromosomal and cardiovascular anomalies. Twelve patients underwent cytogenetic evaluation, including seven that were tested for a chromosome 22q11 deletion by fluorescence in situ hybridization.
Chromosomal abnormalities were detected in seven of the 12 patients in whom cytogenetic evaluation was performed (28% of the entire cohort), including a chromosome 22q11 deletion in six and trisomy 21 in one. Associated cardiovascular anomalies were diagnosed in nine of the 25 patients, most commonly aortic arch anomalies. Of the patients with cardiovascular anomalies, 55% also had chromosomal alterations, and 71% of patients with chromosomal alterations also had a cardiovascular defect, of which four had the triad of a congenital laryngeal web, a chromosome 22q11 deletion, and congenital cardiovascular anomalies.
Chromosomal and cardiovascular anomalies are common in patients with a congenital laryngeal web. A chromosome 22q11 deletion was particularly common, as were the cardiovascular anomalies associated with the chromosome 22q11 deletion syndrome. Accordingly, patients with a congenital laryngeal web should undergo genetic screening, including evaluation for a chromosome 22q11 deletion, and a thorough cardiovascular evaluation, including imaging of the aortic arch. Particular attention should be paid to identifying patients with the triad of a congenital laryngeal web, a chromosome 22q11 deletion, and cardiovascular anomalies, particularly a vascular ring.
本研究旨在评估与先天性喉蹼相关的染色体及心血管异常的发生率。
我们回顾了1988年至2000年间25例因有症状的先天性喉蹼而接受干预治疗患者的病例资料，以调查相关染色体及心血管异常的发生率。12例患者接受了细胞遗传学评估，其中7例通过荧光原位杂交检测22q11染色体缺失。
在接受细胞遗传学评估的12例患者中，有7例检测到染色体异常（占整个队列的28%），其中6例为22q11染色体缺失，1例为21三体。25例患者中有9例被诊断出伴有心血管异常，最常见的是主动脉弓异常。在有心血管异常的患者中，55%同时伴有染色体改变；在有染色体改变的患者中，71%同时伴有心血管缺陷，其中4例同时患有先天性喉蹼、22q11染色体缺失和先天性心血管异常三联征。
先天性喉蹼患者中染色体及心血管异常较为常见。22q11染色体缺失尤为常见，与22q11染色体缺失综合征相关的心血管异常也很常见。因此，先天性喉蹼患者应接受基因筛查，包括评估22q11染色体缺失情况，并进行全面的心血管评估，包括主动脉弓成像。应特别关注识别同时患有先天性喉蹼、22q11染色体缺失和心血管异常三联征的患者，尤其是血管环患者。
