Isolated absent right pulmonary artery in an infant with 22q11 deletion

Area of Science:

• Pediatric Cardiology
• Developmental Biology
• Genetics

Background:

• DiGeorge syndrome is a genetic disorder affecting pharyngeal pouch derivatives, leading to thymus and parathyroid issues, and congenital heart defects.
• Common presentations include hypocalcemia, heart anomalies, and recurrent infections in infants.
• Vascular anomalies are recognized but often less emphasized in DiGeorge syndrome presentations.

Observation:

• A 3-month-old infant presented with a rare combination of proximal interruption of the right pulmonary artery and an aberrant right subclavian artery.
• This specific constellation of vascular anomalies was identified in the infant during diagnostic workup.
• The infant was subsequently diagnosed with DiGeorge syndrome.

Findings:

• The case report details a unique association between DiGeorge syndrome and a specific set of complex vascular anomalies.
• This combination of proximal interruption of the right pulmonary artery and aberrant right subclavian artery in DiGeorge syndrome is unprecedented in medical literature.
• The findings underscore the diverse phenotypic variability within DiGeorge syndrome.

Implications:

• This report expands the known spectrum of clinical manifestations in DiGeorge syndrome.
• It emphasizes the importance of thorough cardiovascular and vascular evaluation in infants diagnosed with DiGeorge syndrome.
• Further research may elucidate the underlying mechanisms connecting DiGeorge syndrome genetics to these specific vascular malformations.