Tetralogy of Fallot and pulmonary valvular agenesis syndrome in 22q11 deletion syndrome

The 22q11 deletion syndrome, also called DiGeorge syndrome, has a wide variety of symptoms and signs, the most prevalent being conotruncal cardiac alterations, hypoplastic thymus and hypocalcemia.We present the clinical case of a 15-day-old newborn who at her first minute of life presented clinical signs of respiratory failure, hypotonia and flaccidity, which required the use of invasive mechanical ventilation and hospitalization in the neonatal intensive care unit.Based on the clinical manifestations, imaging findings, and cytogenetic and molecular analyses, she was diagnosed with 22q11 microdeletion or DiGeorge syndrome.Given the rarity of this disease, with a diagnostically challenging presentation, the multidisciplinary diagnostic approach used in this case allowed us to obtain an early diagnosis and guide the necessary treatment.This is one of the first case reports of 22q11 microdeletion syndrome in Ecuador.