EComment. Rare combination of aortic anomalies

Abstract

We have read with great interest the article by Gandolfo et al., in which they shared their strategy for one-stage repair in a patient with Charge syndrome, an aberrant left brachiocephalic artery and coarctation of the aorta in the right aortic arch. It is a well-structured case report study. Recently, we had a similar patient with a right-sided hypoplastic aortic arch, aberrant left subclavian artery, Kommerell's diverticulum and a retroaortic course of the innominate vein. Our patient was 1.5-year old girl referred to our clinic for surgical correction of hypoplasia of the aortic arch. She was diagnosed with PHACE (posterior fossa malformations, haemangiomas, arterial anomalies, cardiac defects, eye abnormalities) syndrome after birth. She had no history of dysphagia or dyspnoea. After the incidental finding of a heart murmur, transthoracic echocardiography (TTE) was performed. The pressure gradient measured in the descending aorta was only 60 mmHg. No additional cardiac abnormalities were found. Cardiac catheterization showed a right-sided aortic arch with an aberrant left subclavian artery. The entire aortic arch was hypoplastic. Moreover, it was shown that the left subclavian artery had aberrant course originating from a region distal to the left common carotid artery with diverticulum of Kommerell in its ostium. To better understand the morphology, a computed tomography scan was performed and in addition to those anomalies, retroaortic course of the left innominate vein was identified. Preoperative findings were consistent with intraoperative observations. PHACE syndrome is an uncommon association between large infantile haemangiomas, usually of the face, and structural abnormalities of the brain, cerebral vasculature, eyes, and/or aorta [1]. The association of coarctation of the aorta/hypoplasia of aortic arch and right-sided aortic arch is uncommon in non-syndromic patients [2]. An anomalous course of the innominate vein is rare. Right-sided aortic arch may have been with retroaortic course of innominate vein and more than 80% of the patients with anomalous left innominate vein have obstruction of the right ventricular outflow tract (RVOT), commonly tetralogy of Fallot (TOF) with or without pulmonary atresia [3, 4]. However, as in our case, combination of right-sided aortic arch with hypoplasia, aberrant left subclavian artery and retroaortic course of innominate vein without RVOT obstruction has not been published yet. In contrast to simple aortic coarctation or aortic arch interruption observed in non-syndromic patients, aortic anomalies found in the context of PHACE and other syndromes, such as Charge syndrome may represent a distinctive morphological entity with unusually complex and unpredictable anatomic involvement. For that reason, accurate interpretation of the anomaly as well as the related anatomical structures is crucial, especially in patients with syndromes. Conflict of interest: none declared