title: Clinical, anatomopathological and genetic pattern of 10 patients with cervical aortic arch.
abstract: Cervical aortic arch (CAA) is a rare congenital abnormality in which the aortic arch is situated cranially to its usual position, often associated with complex developmental alteration of aortic laterality and branching. More recently, some authors reported deletion of chromosome 22q11 (del22q11) in few patients with CAA. The aim of this study was to describe the clinical, anatomopathological and genetic pattern of 10 new cases of CAA. From 1975 to 2003, 10 patients with CAA (4 female, mean age 12.4+11.1 years) underwent complete cardiovascular evaluation and screening for del22q11 using fluorescence in situ hybridization. Six patients underwent CAA surgical repair with histological analysis of aorta samples. Six patients were asymptomatic; one patient had syncope on effort, 2 patients had dyspnea on effort and 1 had cyanosis and dyspnea (tricuspid atresia). A murmur and/or a pulsatile mass of the neck was present in all patients. Femoral pulses were weak or absent in 6 patients. Four patients had right and 6 left CAA; kinking or true obstruction of the aortic arch was present in 9/10. Abnormal aortic arch branching pattern was found in 8/10 (mainly aberrant subclavian artery). Two patients had del22q11 with dysmorphic features, multiorgan anomalies and degenerative mediocystic necrosis of aortic wall. Our data confirm clinical polymorphism and anatomic complexity of CAA as well as the association between del22q11 and CCA in 2 syndromic patients.
authors.affiliation: Department of Cardiology and Pediatric Cardiology, Riuniti Hospital, Bergamo, Italy. massimo.baravelli@virgilio.it <massimo.baravelli@virgilio.it>
authors.forename: Massimo
authors.initials: M
authors.lastname: Baravelli
authors.forename: Adele
authors.initials: A
authors.lastname: Borghi
authors.forename: Silvia
authors.initials: S
authors.lastname: Rogiani
authors.forename: Laura
authors.initials: L
authors.lastname: Preda
authors.forename: Maria
authors.initials: M
authors.lastname: Quattrociocchi
authors.forename: Cecilia
authors.initials: C
authors.lastname: Fantoni
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Crupi
authors.forename: Roberto
authors.initials: R
authors.lastname: Tiraboschi
mesh_terms: D000293:Adolescent; D000328:Adult; D001013:Aorta, Thoracic / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male