Interrupted aortic arch
medical condition

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.
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This entry incorporates text from “Interrupted aortic arch” on English Wikipedia. Contributors are listed in the page history. Text is available under the Creative Commons Attribution-ShareAlike 4.0 License. Selected authority identifiers and statements are retrieved from Wikidata under CC0; their references and qualifiers remain part of the verification path.