Prevalence and complications of aberrant subclavian artery in patients with heritable and nonheritable arteriopathies

Lorenzo Giuliani, Transplant Research Area and Centre for Inherited Cardiovascular Diseases, Fondazione IRCCS Policlinico San Matteo, VASCERN HTAD European Reference Centre, Pavia, Italy.
Alessandro Di Toro, Transplant Research Area and Centre for Inherited Cardiovascular Diseases, Fondazione IRCCS Policlinico San Matteo, VASCERN HTAD European Reference Centre, Pavia, Italy.
Mario Urtis, Transplant Research Area and Centre for Inherited Cardiovascular Diseases, Fondazione IRCCS Policlinico San Matteo, VASCERN HTAD European Reference Centre, Pavia, Italy.
Nupoor Narula, Division of Cardiology and Weill Cornell Women's Heart Program, Weill Cornell Medicine, New York, New York, USA.
Maurizia Grasso, Transplant Research Area and Centre for Inherited Cardiovascular Diseases, Fondazione IRCCS Policlinico San Matteo, VASCERN HTAD European Reference Centre, Pavia, Italy.
Stefano Pelenghi, Cardiac 1 Surgery Unit, Cardiothorax and Vascular Department, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Mirko Belliato, AR2-Cardiothoracic ICU, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Antonio Bozzani, Vascular and Endovascular Surgery Unit, Department of Surgical Science, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Vittorio Arici, Vascular and Endovascular Surgery Unit, Department of Surgical Science, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Carlo Pellegrini, Cardiac 1 Surgery Unit, Cardiothorax and Vascular Department, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, Università degli Studi di Pavia, Pavia, Italy.
Alessandra Serio, Transplant Research Area and Centre for Inherited Cardiovascular Diseases, Fondazione IRCCS Policlinico San Matteo, VASCERN HTAD European Reference Centre, Pavia, Italy.
Andrea Pilotto, Transplant Research Area and Centre for Inherited Cardiovascular Diseases, Fondazione IRCCS Policlinico San Matteo, VASCERN HTAD European Reference Centre, Pavia, Italy.
Viola Fergnani, Transplant Research Area and Centre for Inherited Cardiovascular Diseases, Fondazione IRCCS Policlinico San Matteo, VASCERN HTAD European Reference Centre, Pavia, Italy.
Elena Antoniazzi, Ophthalmology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Lorenzo Magrassi, Neurosurgery, Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, Università degli Studi di Pavia, Pavia, Italy.
Roberto Dore, Unit of Radiology, Clinical Institute, Città di Pavia, Pavia, Italy.
Adele Valentini, Department of Radiology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Lorenzo Preda, Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, Università degli Studi di Pavia, Pavia, Italy; Department of Radiology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Fabrizio Calliada, Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, Università degli Studi di Pavia, Pavia, Italy.
Pietro Quaretti, Unit of Interventional Radiology-Department of Radiology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Stefano Pirrelli, Division of Vascular Surgery-Cardiovascular Department, ASST Papa Giovanni XXIII, Bergamo, Italy.
Takaide Kodama, Department of Cardiology, Toranomon Hospital, Tokyo, Japan.
Luca Vricella, Advocate Aurora HealthFollow
Duke Cameron, Division of Cardiac Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Eloisa Arbustini, Transplant Research Area and Centre for Inherited Cardiovascular Diseases, Fondazione IRCCS Policlinico San Matteo, VASCERN HTAD European Reference Centre, Pavia, Italy. Electronic address: e.arbustini@smatteo.pv.it.

Affiliations

Advocate Children's Hospital

Abstract

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.

Document Type

Article

PubMed ID

36889877

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