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

Massimo Baravelli, Adele Borghi, Silvia Rogiani, Laura Preda, Maria Quattrociocchi, Cecilia Fantoni, Giancarlo Crupi, Roberto Tiraboschi

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)236-240
Number of pages5
JournalInternational Journal of Cardiology
Issue number2
Publication statusPublished - Jan 8 2007


  • 22q11 deletion
  • Anterior heart field
  • Cervical aortic arch
  • Cranial neural crest

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


Dive into the research topics of 'Clinical, anatomopathological and genetic pattern of 10 patients with cervical aortic arch'. Together they form a unique fingerprint.

Cite this