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Dizygotic twins concordant for truncus arteriosus
M J Lang1, D J Aughton, T W Riggs
1Department of Pediatrics, William Beaumont Hospital, Royal Oak, Michigan.
Clinical Genetics
|January 1, 1991
Summary
This study reports on dizygotic twin sisters diagnosed with persistent truncus arteriosus (TA), a rare congenital heart defect. Concordant cases of isolated TA in twins are exceptionally uncommon, with this being only the second reported instance.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Persistent truncus arteriosus (TA) is a rare congenital heart defect, accounting for 0.4%-4% of all cases.
- Familial occurrence of TA is infrequently documented.
- Concordant TA in twins is exceptionally rare, with only one prior report.
Observation:
- This paper details a case of dizygotic twin females.
- Both twins were diagnosed with isolated persistent truncus arteriosus.
Findings:
- The dizygotic twins presented with concordant isolated persistent truncus arteriosus.
- This represents the second reported instance of twins being concordant for isolated TA.
Implications:
- This case contributes to the limited understanding of TA's genetic and environmental factors.
- Further research into familial TA may elucidate underlying genetic predispositions.
- Understanding rare congenital conditions in twins aids in genetic counseling and risk assessment.