DiGeorge syndrome: consider the diagnosis.

Area of Science:

• Genetics
• Developmental Biology
• Cardiology

Background:

• DiGeorge syndrome (DGS) is a genetic disorder resulting from a 22q11.2 microdeletion.
• This deletion impacts the pharyngeal pouch system, leading to potential craniofacial, endocrine, and cardiac abnormalities.

Observation:

• Neonatal screening for DGS with conotruncal cardiac anomalies began in the late 1990s.
• Prior to this, diagnosis relied on complex criteria, often leading to missed cases in adults.
• A case report details a 35-year-old woman with tetralogy of Fallot and absent pulmonary artery diagnosed with DGS.

Findings:

• The case highlights that adults with congenital heart defects from before widespread DGS screening may remain undiagnosed.
• This emphasizes the need for retrospective diagnosis in this population.

Implications:

• Diagnosing DGS in adults is crucial for appropriate disease management.
• Identifying DGS in adults is essential for accurate genetic counseling of families.
• This case underscores the importance of considering DGS in adults with historical conotruncal cardiac defects.