Introduction:

The 22q11.2 deletion syndrome is a chromosomal anomaly that causes a clinical picture characterized by congenital malformations that include cardiac and endocrine defects, associated with abnormalities of the palate, facial dysmorphism and immunodeficiency.

Case report:

A 40-year-old female with congenital aortic stenosis, who presents frequent pharyngeal infections, in which the diagnoses of hypoparathyroidism, subclinical hypothyroidism associated with mild craniofacial anomalies were established, corresponding to 22q11.2 deletion syndrome that was confirmed. Her main problem to solve is the severe aortic stenosis despite being asymptomatic from the cardiovascular point of view.