Prevalence and Complications of Aberrant Subclavian Artery in Patients With Heritable and Nonheritable Arteriopathies

J Am Coll Cardiol. 2023 Mar 14;81(10):979-991. doi: 10.1016/j.jacc.2023.01.005.


Background: An aberrant subclavian artery (ASA) (or lusoria) is the most common congenital anomaly of the aortic arch (0.5%-2.2%; female-to-male ratio 2:1 to 3:1). ASA can become aneurysmal and result in dissection, involving Kommerell's diverticulum when present and the aorta. Data of its significance in genetic arteriopathies are not available.

Objectives: The purpose of this study was to assess the prevalence and complications of ASA in gene-positive and -negative nonatherosclerotic arteriopathies.

Materials: The series includes 1,418 consecutive patients with gene-positive (n = 854) and gene-negative arteriopathies (n = 564) diagnosed as part of institutional work-up for nonatherosclerotic syndromic and nonsyndromic arteriopathies. Comprehensive evaluation includes genetic counseling, next-generation sequencing multigene testing, cardiovascular and multidisciplinary assessment, and whole-body computed tomography angiography.

Results: ASA was found in 34 of 1,418 cases (2.4%), with a similar prevalence in gene-positive (n = 21 of 854, 2.5%) and gene-negative (n = 13 of 564, 2.3%) arteriopathies. Of the former 21 patients, 14 had Marfan syndrome, 5 had Loeys-Dietz syndrome, 1 had type-IV Ehlers-Danlos syndrome, and 1 had periventricular heterotopia type 1. ASA did not segregate with genetic defects. Dissection occurred in 5 of 21 patients with genetic arteriopathies (23.8%; 2 Marfan syndrome and 3 Loeys-Dietz syndrome), all with associated Kommerell's diverticulum. No dissections occurred in gene-negative patients. At baseline, none of the 5 patients with ASA dissection fulfilled criteria for elective repair according to guidelines.

Conclusions: The risk of complications of ASA is higher in patients with genetic arteriopathies and is difficult to predict. In these diseases, imaging of the supra-aortic trunks should enter baseline investigations. Determination of precise indications for repair can prevent unexpected acute events such as those described.

Keywords: Loeys-Dietz syndrome; Lusoria; Marfan syndrome; aberrant subclavian artery; dissection; genetic arteriopathies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aorta, Thoracic
  • Diverticulum* / complications
  • Female
  • Heart Defects, Congenital* / complications
  • Humans
  • Loeys-Dietz Syndrome*
  • Male
  • Marfan Syndrome* / complications
  • Prevalence
  • Subclavian Artery / abnormalities
  • Subclavian Artery / diagnostic imaging
  • Vascular Diseases* / complications

Supplementary concepts

  • Aberrant subclavian artery