Interrupted aortic arch (IAA) is a relatively rare genetic disorder that usually occurs in association with a nonrestrictive ventricular septal defect (VSD) and ductus arteriosus or, less commonly, with a large aortopulmonary window or truncus arteriosus. Although most cases occur in normally connected great arteries, interrupted aortic arch can coexist with any ventriculoarterial alignment and also with severe underdevelopment of one ventricle.

The rare cases that involved interrupted aortic arch, aortic valve atresia, and VSD have been complex; two have presented with circle of Willis–dependent coronary blood flow, and two have presented with bilateral ductus in which coronary blood flow depended on the patency of the right ductus arteriosus.

Interrupted aortic arch and complete common atrioventricular canal can be observed in the context of coloboma, heart disease, atresia choanae, retarded growth and development and/or CNS anomalies, genital hypoplasia, and ear anomalies and/or deafness (CHARGE) syndrome, which is usually caused by mutations in CHD7 on chromosome 8q12.1.

Approximately 50% of patients with interrupted aortic arch have DiGeorge syndrome; in these cases, the interrupted aortic arch is usually type B, although cases of type A or type C have also been reported. There is considerable phenotypic overlap between CHARGE and DiGeorge syndromes.
Interrupted aortic arch can be grouped into three types, depending on the site of the disruption.

• Type A: The disruption is located distal to the left subclavian artery; this is the second most common disruption represents approximately 13% of the cases.

• Type B: The disruption is located between the left carotid artery and the left subclavian artery; this is the most common anomaly, representing approximately 84% of the cases.

• Type C: The disruption is located between the innominate artery and the left carotid artery; this is a rare type represents approximately 3% of all cases.

These three types of IAA can be sub-classified according to the origin of the subclavian artery:

Type 1: Normal origin of the subclavian artery.

Type 2: Aberrant right subclavian artery, found distal to the left subclavian artery.

Type 3: Isolated right subclavian artery; found originating from a right patent ductus arteriosus.

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