Affordable Access

Publisher Website

Clinical, anatomopathological and genetic pattern of 10 patients with cervical aortic arch

Authors
Journal
International Journal of Cardiology
0167-5273
Publisher
Elsevier
Publication Date
Volume
114
Issue
2
Identifiers
DOI: 10.1016/j.ijcard.2005.12.028
Keywords
  • Cervical Aortic Arch
  • Cranial Neural Crest
  • Anterior Heart Field
  • 22Q11 Deletion
Disciplines
  • Biology
  • Medicine

Abstract

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.

There are no comments yet on this publication. Be the first to share your thoughts.

Statistics

Seen <100 times
0 Comments

More articles like this

Clinical, anatomopathological and genetic pattern...

on International Journal of Cardi... Jan 08, 2007

[Cervical aortic arch. Study of a clinical case].

on Revista clínica española Jan 15, 1977

Images in clinical medicine. Cervical aortic arch.

on New England Journal of Medicin... Dec 25, 2014

The cervical aortic arch.

on The American journal of roentg... November 1972
More articles like this..