Congenitally corrected transposition of great arteries associated with interrupted aortic arch type A: a case report of an unusual association.

In this article, we report the third case, to our knowledge, of a congenitally corrected transposition of the great arteries associated with an interrupted aortic arch. This is a more complex and rare presentation than dextro-transposition of great arteries with interrupted aortic arch. The child ultimately succumbed to sepsis before the surgical repair was possible. We focus on an image modality report and propose what could be a brief embryologic explanation for this rare case.

Case description

About 6% of children with interruption of the aortic arch (IAA) have dextro-transposition of great arteries (d-TGA) and this presentation is associated with high mortality rates.[1] Ours is the third case report, to our knowledge, of a congenitally corrected transposition of the great arteries (CCTGA) associated with IAA, a more complex and rare presentation than d-TGA with IAA.[2,3]

We report the case of a 1-month-old male infant, who was delivered via caesarean section for a cord prolapse to a primigravida migrant mother with no antenatal controls and who had a corrected unknown congenital heart disease. He was referred to our institution with tachypnoea and cyanosis with an initial diagnosis of bronchiolitis. Infection studies including syphilis - toxoplasmosis, others, rubella, cytomegalovirus, herpes simplex virus were initially negative. He was admitted with severe respiratory distress and the physical examination demonstrated asymmetric pulses. A chest radiography was performed showing cardiomegaly which led to performing an urgent echocardiogram. This evidenced situs solitus, levocardia, CCTGA with a perimembranous ventricular septal defect with the extent to the muscular trabecular septum associated with IAA type A, restrictive ductus arteriosus, a normal coronary pattern, and a pericardial effusion.

The patient then had a sudden cardiac collapse requiring urgent intubation, high shock doses prostaglandin E1, and inotropic support. Even though echocardiogram was sufficient for the diagnosis, we indicated a computed tomography angiography of heart and great vessels before surgery in order to rule out potential presentations with the aberrant subclavian artery. Before the surgical intervention, the patient succumbed to sepsis with a suspicion of immunodeficiency given, he had a Klebsiella pneumoniae and Staphylococcus aureus (without resistance gene) pneumonia, a Klebsiella aerogenes urinary infection, and a bloodstream infection by Klebsiella oxytoca.

This case highlights a rare and complex presentation of CCTGA with IAA diagnosed with thorax echocardiography. This is the third reported case to our knowledge and we want to showcase the imaging results (see ). Interestingly this case differs from the previously reported because there was no evidence of obstruction of the atrioventricular valves or ventricular outflow tracts neither an hypoplastic ventricle. Craig et al.[4] provide a potential embryologic explanation for lowered aortic flow due to outflow obstruction. Given that the leftward and anterior aorta has no fibrous continuity with an atrioventricular valve, it may get wedged subjecting it to a possible outflow tract obstruction resulting in cardiac foetal alterations.

(A). Computed tomography angiography of heart and great vessels in a posterior oblique volume rendering view shows an interruption of the aortic arch immediately after a common origin of all supra-aortic branches. The descending aorta is continuous with the patent ductus arteriosus, which has a narrowed pulmonic end (arrow). Both pulmonary arteries have a normal size and branching pattern. (B). Computed tomography angiography of heart and great vessels, multiplanar reconstruction in a short-axis view, showing an inverted ventricular situs (note both papillary muscles) on the anterior ventricle, typical of a left ventricle morphology. There is biventricular enlargement. (C). Four-chamber view, showing the auriculoventricular discordance, (D) short-axis view showing the transposition of great vessels, (E) four-chamber view showing the ventricular septal defect of 6.09 mm (arrow). (F) Suprasternal view, interruption of the aortic arch (arrow). (G) Parasternal short-axis view that shows Ao in the anterior and left position and pulmonary artery in a posterior and right position. (H) Four-chamber view showing comparative diameters of both ventricles. (I) SEVERE obstruction of the ductus flow. (A and B): CTA, computed tomography angiography, (C–I): echochardiogram; Ao, aorta; BT, braquicephalic trunk; Ca, carotid artery; IAA, interruption of the aorta arch, LA, left atrium, LSA, left subclavian artery, LV, left ventricle; PDA, patent ductus arteriosus; PM, papillary muscles, PA, pulmonary artery, RA, right atrium, RV, right ventricle.

Lead author biography

Lina Paola Montaña-Jimenez is a paediatrician, neonatologyst, and cardiology fellow from Colombia, South America. She has a special interest in cardiovascular intensive care and congenital heart disease.

Consent: The authors confirm that written consent for submission and publication of this case report including images and associated text has been obtained from the patient in line with COPE guidance.

Conflict of interest: none declared.

Ethics approval: approved by the Fundación Valle de Lili Ethics Committee.