Aortic arch interruption

Overview

A very rare genetic heart defect in which the aorta is not completely developed or discontinued which severely impairs the flow of oxygenated blood to the lower body. There is a gap between the ascending and descending thoracic aorta. In a sense it is the complete form of a coarctation of the aorta. Almost all patients also have other cardiac anomalies, including a ventricular septal defect (VSD), aorto-pulmonary window, and truncus arteriosus. Interrupted aortic arch is often associated with DiGeorge syndrome. 

Symptoms

• Shock within 2 weeks of birth
• Severe congestive heart failure within 2 weeks of birth
• Metabolic acidosis
• Acute cardiovascular collapse
• Poor infant feeding
• Rapid infant breathing
• Rapid infant heart rate
• Infant weakness
• Low infant oxygen levels

Causes

Aortic arch syndrome problems are most often associated with trauma, blood clots, or malformations that develop before birth. The arteries' defects result in abnormal blood flow to the head, neck, or arms.

Diagnosis

It can be diagnosed with an echocardiogram. Patients will have a loss of appetite, turn pale, may feel cold in the lower half of the body due to not enough blood flow. In longitudinal view, the ascending aorta follows a straight course to its branches without the normal continuous curvature to the descending aorta.

Prognosis

Death usually occurs in the early neonatal period, but survival into childhood has occurred and the lesion has been successfully corrected surgically.

Treatment

Treatment consists of open heart surgery soon after birth. Awaiting surgery, prostaglandin can be administered to keep the ductus arteriosus open, thereby allowing blood flow to the lower body. Failure to treat the condition yields a mortality rate of 90% at a median age of 4 days.