Incomplete Double Aortic Arch and Window Patent Ductus Arteriosus in a CHARGE Syndrome Patient: A Case Report and Review of Literature

Gregory P Moore, Hannah Roberts, Gyaandeo Maharajh, Lillian SW Lai


We report on a female infant with CHARGE syndrome who has a previously undescribed combination of two very rare cardiac anomalies: incomplete double aortic arch and window patent ductus arteriosus (PDA). The term infant went into heart failure at four weeks of age due to the extremely large PDA. Due to its unusual anatomy and the risk of damage to nearby vital vessels with ligation, the PDA was divided and closed using a patch on both ends while the patient was on cardiopulmonary bypass. Only in retrospect was the rare diagnosis of this window PDA and abnormal arch made. This case is the first to demonstrate a window PDA and an incomplete double aortic arch consisting of a dominant right aortic arch and persistent proximal left dorsal aorta and the first to provide three-dimensional MRI angiography images of the anatomy. The case provides several key learning points. As cardiac MRI is now a standard imaging tool it is important that physicians be made aware of how the above rare diagnoses appear on three-dimensional angiography. Thorough attention to the cardiac anatomy of patient with CHARGE must continue. We report this case to help physicians successfully diagnose and manage this type of rare anatomy and provide long-term follow-up results that have not been published previously.

J Med Cases. 2013;4(5):333-339


Anomaly; Aortic Arch; CHARGE syndrome; Ductus Arteriosus, Patent; Aorta, Thoracic; Aortic Arch; Arch of the Aorta; Window patent ductus arteriosus

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