Interrupted aortic arch is a very rare heart defect (affecting 3 per million live births) in which the aorta is not completely developed. 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. There are three types of interrupted aortic arch, with type B being the most common. Interrupted aortic arch (especially Type B) is often associated with DiGeorge syndrome. Signs and symptoms
Patients with an interrupted aortic arch usually have symptoms from birth, with nearly all presenting symptoms within two weeks (when the ductus arteriosus is usually closed). Causes
It is thought that an interrupted aortic arch occurs through excessive apoptosis in the developing, embryonic aorta. Around 50% of patients have DiGeorge syndrome. Diagnosis
It can be diagnosed with a standard echocardiogram. An echocardiogram can also aid in classifying the type of defect. The diagnosis can also be made prior to birth via ultrasound. Patients will have a loss of appetite, appear tired and weak, and exhibit rapid breathing and a rapid heart rate. If the condition progresses, the infant may turn pale, feel cold in the lower half of the body, and have a weak pulse due to insufficient blood flow.
Research directions
While PGE1 is the standard of care for maintaining the ductus arteriosus, there is insufficient data on the proper dose, duration of therapy, safety, and long-term consequences of PGE1 on infants with ductal-dependent congenital heart defects (like interrupted aortic arch). References
Further reading
Collins-Nakai, RL; Dick, M; Parisi-Buckley, L; Fyler, DC; Castaneda, AR (1976). "Interrupted aortic arch in infancy". The Journal of Pediatrics. 88 (6): 959–62. doi:10.1016/S0022-3476(76)81049-9. PMID 1271195. == External links ==