Truncus arteriosus associated with double aortic arch in a patient with DiGeorge syndrome: A rare case report

Abstract

Truncus arteriosus (TA) is considered as a congenital heart defect (CHD) reported with many cardiac and extracardiac malformations.[1 2] The association of double aortic arch (DAA) and TA is rare, and ten cases have been reported up to now.[3 4] A 2-month-old term boy, weighing 2.8 kg, was referred to our institution due to increased respiratory rates, respiratory distress in addition to abnormal heart murmur during physical examinations. There was no history of drug intake or medical problems during the pregnancy, no family history of CHD, and no facial dysmorphism, including low-set ears or cleft palate. The only symptoms of the patient were those related to heart failure including tachypnea and poor feeding. During the initial physical examination, oxygen saturation was 85%, blood pressure was 72/46 mmHg, and heart rate was 152 beats/min. On the chest X-ray, increased vascular marking and cardiomegaly were noted. A holosystolic murmur of 2/6 was auscultated on the left sternal border. The electrocardiogram revealed 90° axis and biventricular hypertrophy. Subcostal, long-axis, short-axis, apical four-chamber, and suprasternal views were investigated during the echocardiography. TA Type 1A with outlet type ventricular septal defect with more than 70% truncal root commitment to the right ventricle was found in echocardiography. Further investigations by computerized tomography (CT) and CT-angiography showed DAA with compression effect on the left main bronchus and hypoplastic left arch [Figures 1 and 2]. Chromosomal studies confirmed 22q11 deletion, in favor of DiGeorge syndrome. First, we decided to do the repair as a total correction from midline approach, but during the surgery, due to the impossibility of the mobilization and exposure of the vital elements, we decided to do the surgery in a stepwise manner. The patient underwent surgical correction of TA and VSD closure before the second step arch repair surgery in 10 days. The truncus repair was done with the VSD closure from the right ventriculotomy and construction of the continuity between right ventricular outflow tract and bifurcation with a no. 13 homograft. Truncal valve was trileaflet and needs no repair. There was a noncomplicated postsurgical course. Figure 1 Computed tomography-angiography of the patient, showing double aortic arch, with hypoplastic left arch Figure 2 Computed tomography of the patient, showing double aortic arch, with hypoplastic left arch Mostly emerging as an isolated problem, other cardiac anomalies, including tetralogy of Fallot, ventricular septal defect, transposition of the great arteries, and TA, may accompany DAA.[5] Aortic arch anomalies with TA include a wide range of benign right aortic arch (30%–33%) to severe aortic arch interruption (9%–11%).[1 2 6 7] DAA is a type of vascular ring, embedding trachea, and esophagus.[8] The association of DAA and TA is rare, and ten cases have been reported up to now.[3 4] Bhan et al., found this association after the surgery, as the breathing problem did not resolve.[3] Similarly, Imai et al. found TA associated with DAA and mitral hypoplasia.[9] A pathogenic relationship between the DiGeorge syndrome, aortic arch, and conotruncal malformations has been suggested.[10 11] Face, ears, palate, and cardiac anomalies are mostly associated with DiGeorge syndrome.[10] Similar to our case, Pacileo et al. reported a 2-month-old boy diagnosed with TA and DAA that further genetic investigations were positive for the DiGeorge Syndrome.[12] Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.