Congenital stridor and wheezing as harbingers of the del22q11.2 syndrome presenting cardiovascular malformations of right aortic arch, aberrant left subclavian artery, Kommerell's diverticulum, and left ligamentum arteriosum.
A complete vascular ring composed of right aortic arch, aberrant left subclavian artery with Kommerell's diverticulum, and left ligamentum arteriosum was diagnosed by barium esophagography, echocardiography, angiography, and multidetector computed tomography of chest in an 18-day-old male neonate who presented with remarkable inspiratory stridor, expiratory wheezing, postprandial vomiting, and dysphagia since birth, and survived surgical division of the left ligamentum arteriosum, resection of the Kommerell's diverticulum, and reimplanation of the left subclavian artery to the left common carotid artery. Cytogenetic analysis and fluorescence in situ hybridization study of his blood revealed chromosome 22q11.2 deletion, with a karyotype of 46,XY.ish del(22)(q11.2 q11.2). A constellation of right aortic arch, aberrant left subclavian artery with Kommerell's diverticulum, and left ligamentum arteriosum in neonates may cause refractory stridor, wheezing, vomiting, and dysphagia, which can serve as harbingers of the del22q11.2 syndrome.
Lee
Meng-Luen
ML
Department of Pediatrics, Changhua Christian Hospital, Changhua 50050, Taiwan. ferdielee@yahoo.com
Chen
Ming
M
Tsao
Lon-Yen
LY
Chiu
Han-Yao
HY
Chiu
Ing-Sh
IS
Yang
Albert D
AD
Tsai
Pei-Ling
PL
D058165:22q11 Deletion Syndrome / Q000150:complications / Q000235:genetics / Q000473:pathology*; D001013:Aorta, Thoracic / Q000002:abnormalities*; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004240:Diverticulum / Q000151:congenital; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D012135:Respiratory Sounds / Q000209:etiology*; D013348:Subclavian Artery / Q000002:abnormalities*; D054079:Vascular Malformations / Q000209:etiology / Q000235:genetics / Q000473:pathology