What condition is indicated by an interrupted aortic arch seen in an ultrasound?

An interrupted aortic arch is a significant congenital cardiovascular defect that can be associated with certain genetic conditions. The correct choice, 22q, refers to 22q11.2 deletion syndrome, also known as DiGeorge syndrome or Velocardiofacial syndrome, which is characterized by a range of congenital heart defects, including interrupted aortic arch.

Individuals with 22q deletion syndrome frequently display heart anomalies due to the developmental impacts of the deletion on the formation of vascular structures in the embryo. Research has shown that disrupted signaling pathways and gene dosage effects involved in the development of the aorta can lead to these serious heart defects, making the presence of interrupted aortic arch a common indicator when evaluating patients for this syndrome.

On the other hand, other conditions listed do not generally include interrupted aortic arch as a hallmark feature. For instance, Tuberous Sclerosis Complex (TSC) is primarily associated with skin lesions and tumors in various organs. Beckwith-Wiedemann syndrome involves overgrowth and tumor predisposition and does not typically present with interrupted aortic arch as a finding. Holt-Oram syndrome is characterized by upper limb anomalies and cardiac abnormalities, but it is not commonly associated with interrupted aortic arch. Thus, 22q