A rare constellation: Interrupted aortic arch type C and confirmed 22q11 deletion (DiGeorge syndrome) managed with Yasui procedure in a neonate.

Abstract

Interrupted aortic arch (IAA) type C is a rare and complex congenital heart anomaly. DiGeorge syndrome (22q11.2 deletion) is commonly associated with conotruncal anomalies, notably IAA type B, but its association with IAA type C is exceptional. There is only a limited number of reported cases in the literature. Here, we present a case of a full-term neonate diagnosed with IAA type C and confirmed to have 22q11.2 deletion syndrome. It was managed successfully with a Yasui procedure. Our case highlights the critical importance of genetic screening for early diagnosis and the necessity of a proper multidisciplinary team approach. Prompt surgical intervention in these patients is life-saving.