Which statement about 22q11.2 deletion and CHD is true?

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Multiple Choice

Which statement about 22q11.2 deletion and CHD is true?

A primary link exists between 22q11.2 deletion and outflow tract (conotruncal) congenital heart defects. This syndrome—often called DiGeorge or velocardiofacial syndrome—frequently involves cardiac lesions such as tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. The underlying mechanism centers on haploinsufficiency of TBX1 in the deleted region, which disrupts neural crest cell contributions to the developing heart, particularly the aorticopulmonary septum and great vessel alignment. That’s why conotruncal defects are the hallmark CHD pattern seen with 22q11.2 deletion. Diaphragmatic hernia is not the defining CHD association for this deletion, and saying there is no association with CHD is incorrect because CHD is a prominent and characteristic feature of the syndrome. The idea that it’s exclusively tied to a VACTERL spectrum isn’t right either; while some patients may display overlapping features, the deletion has a broader spectrum of presentations and CHD occurs beyond the VACTERL context.

A primary link exists between 22q11.2 deletion and outflow tract (conotruncal) congenital heart defects. This syndrome—often called DiGeorge or velocardiofacial syndrome—frequently involves cardiac lesions such as tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. The underlying mechanism centers on haploinsufficiency of TBX1 in the deleted region, which disrupts neural crest cell contributions to the developing heart, particularly the aorticopulmonary septum and great vessel alignment. That’s why conotruncal defects are the hallmark CHD pattern seen with 22q11.2 deletion.

Diaphragmatic hernia is not the defining CHD association for this deletion, and saying there is no association with CHD is incorrect because CHD is a prominent and characteristic feature of the syndrome. The idea that it’s exclusively tied to a VACTERL spectrum isn’t right either; while some patients may display overlapping features, the deletion has a broader spectrum of presentations and CHD occurs beyond the VACTERL context.

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