Tetralogy of Fallot with coarctation of the aorta: a newly recognised developmental and anatomic syndrome

Abstract

Tetralogy of Fallot and coarctation of the aorta is an exceptional association. We report here four cases of infants referred for tetralogy of Fallot with or without pulmonary atresia associated with aortic coarctation from 1974 to 2013. All had a right aortic arch, and the coarctation was abnormally situated between the right common carotid and the right subclavian arteries. In all, two infants had an abnormal left subclavian artery and one child had DiGeorge syndrome. All underwent staged surgical repair of the left and right-sided obstructions. A review of the literature shows two types of coarctation in this context. In left aortic arch, coarctation is situated distal to the left subclavian artery. In right aortic arch, coarctation is distal to the right common carotid artery, mirror-image of interrupted left aortic arch type B, associated with anomalies of the branches of the aorta, and should be considered a complex anomaly of aortic arches in the setting of an outflow tract defect due to abnormal migration of cardiac neural crest cells. Screening for this unusual association is critical in the initial assessment of all patients with tetralogy of Fallot.

The aortic arch in tetralogy of Fallot: types of branching and clinical implications

“…[4][5][6][7] The other arch variations, such as cervical aortic arch, double aortic arch, aorto pulmonary window, interrupted aortic arch, and coarctation of the aorta, are rarely seen in tetralogy of Fallot patients, although there are scattered case reports and case series in the literature. [8][9][10][11][12][13] A comprehensive analysis of a large number of tetralogy of Fallot cases is required to arrive at a compendious description of aortic arch anatomy.…”

Aortic Coarctation Diagnosed During Pregnancy in a Woman With Repaired Tetralogy of Fallot

“…AORTIC coarctation in patients with ToF is thought to be rare, with only 16 cases reported in the literature so far, exclusively in the pediatric population. Children often present with severe left ventricular failure in that setting [1,2]. The coexistence of both left-sided and right-sided outflow tract obstruction goes against the fetal hemodynamic theories regarding the development of coarctation.…”

“…The coexistence of both left-sided and right-sided outflow tract obstruction goes against the fetal hemodynamic theories regarding the development of coarctation. However, it has been suggested recently that in ToF with right aortic arch, coarctation is located distally to the right common carotid artery, as a mirror image of interrupted left aortic arch type B, and is associated with anomalies of the branches of the aorta, making this association to be considered a complex anomaly of aortic arches caused by abnormal migration of cardiac neural crest cells in the setting of an outflow tract defect [2]. This is consistent with the anatomic description of our case.…”

“…Rarely, coarctation of the aorta may present during pregnancy, with a theoretic risk of maternal and fetal adverse events resulting from systemic hypertension. The presence of aortic coarctation in patients with ToF is exceedingly rare; only 16 cases have been reported in the literature so far, exclusively in the pediatric population [1,2]. Indeed, the coexistence of these two conditions was thought to contradict the fetal haemodynamic theories regarding the development of aortic coarctation.…”

“…Indeed, the coexistence of these two conditions was thought to contradict the fetal haemodynamic theories regarding the development of aortic coarctation. However, Perdreau and colleagues [2] showed recently that coarctation associated with ToF should be considered a complex anomaly of aortic arches in the setting of an outflow tract defect caused by abnormal migration of cardiac neural crest cells.…”