PULMONARY ARTERY ATRESIA WITH THORACIC AORTIC COLLATERALS IN A PATIENT WITH 22q11.2 DELETION SYNDROME

• DOI: https://doi.org/10.22533/at.ed.515722626019

• Palavras-chave: Congenital heart disease, Translocation, Aneuploidy, Pulmonary atresia

• Keywords: Congenital heart disease, Translocation, Aneuploidy, Pulmonary atresia

• Abstract:

  Pulmonary atresia with aortopulmonary collaterals is a rare congenital heart disease that may be associated with 22q11.2 deletion syndrome (DiGeorge syndrome), a chromosomal microdeletion with high phenotypic variability.
  Case report: We describe a female patient, the product of the first pregnancy of a mother with a history of thyroid cancer, bariatric surgery, and gestational diabetes. Prenatal diagnosis revealed tetralogy of Fallot with pulmonary atresia and aortopulmonary collaterals. At birth, she presented with micrognathia and cleft palate. Postnatal studies confirmed pulmonary atresia with non-confluent branches and pulmonary flow dependent on aortic collaterals. The karyotype showed a balanced translocation t(4;6)(q28;p25), and CGH-array analysis confirmed the 22q11.2 deletion. The patient developed infectious complications and required prolonged ventilatory support, subsequently being discharged with outpatient management and a palliative approach.
  Discussion: 22q11.2 deletion syndrome, which is autosomal dominant and has an estimated prevalence of between 1/2000 and 1/6395 live births, is associated with conotruncal heart defects, hypocalcemia, and cellular immunodeficiency. Balanced translocations, although phenotypically silent, may predispose offspring to unbalanced deletions. The combination of pulmonary atresia and aortic collaterals is more common in patients with 22q11.2 deletion.
  Conclusion: Timely genetic diagnosis is essential for comprehensive management and reproductive counseling of families, given the risk of recurrence and the clinical complexity of DiGeorge syndrome.