OBJECTIVE: The purpose of this study was to estimate the frequency of chromosomal and cardiovascular anomalies associated with a congenital laryngeal web. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
OBJECTIVE: The purpose of this study was to estimate the frequency of chromosomal and cardiovascular anomalies associated with a congenital laryngeal web. METHODS: 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. RESULTS: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. CONCLUSIONS: 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.
Authors: Marta Unolt; Paolo Versacci; Silvia Anaclerio; Caterina Lambiase; Giulio Calcagni; Matteo Trezzi; Adriano Carotti; Terrence Blaine Crowley; Elaine H Zackai; Elizabeth Goldmuntz; James William Gaynor; Maria Cristina Digilio; Donna M McDonald-McGinn; Bruno Marino Journal: Am J Med Genet A Date: 2018-04-16 Impact factor: 2.802