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Absent Aortic Valve in DiGeorge Syndrome
Elizabeth C Bertsch1, Lucy Minturn1, Nina L Gotteiner2
11 Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Summary
This study details a fetus with DiGeorge syndrome exhibiting vertebral and complex heart defects, including a rare absent aortic valve. Fetal echocardiography aids in diagnosing DiGeorge syndrome and associated anomalies.
Area of Science:
- Medical Genetics
- Fetal Cardiology
- Developmental Biology
Background:
- DiGeorge syndrome, characterized by the 22q11.2 deletion, is associated with a spectrum of congenital anomalies.
- Conotruncal cardiovascular defects are common in DiGeorge syndrome.
- Absent aortic valve is a rare but severe cardiac anomaly.
Observation:
- A 20-week-old fetus with 22q11.2 deletion (DiGeorge syndrome) presented with vertebral segmentation abnormalities.
- The fetus also exhibited complex cardiovascular anomalies, notably an absent aortic valve.
- This represents the second reported case of absent aortic valve in conjunction with DiGeorge syndrome.
Findings:
- The case highlights a significant association between 22q11.2 deletion and vertebral anomalies.
- The co-occurrence of absent aortic valve and DiGeorge syndrome underscores the complex cardiac manifestations.
- Fetal echocardiography proved valuable in identifying these congenital abnormalities prenatally.
Implications:
- This finding expands the known phenotypic spectrum of DiGeorge syndrome.
- Early diagnosis through fetal echocardiography can improve management of affected neonates.
- Further research into the genetic and developmental pathways is warranted to understand these associations.
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