Patient identified with interrupted aortic arch and 22q11.2 deletion syndrome in late pregnancy: a case report
2024
Case of Interrupted Aortic Arch and 22q11.2 Deletion Syndrome in Pregnancy
Sample size: 1
publication
Evidence: moderate
Author Information
Author(s): Pu Kejun, Yang Mengya, Xia Meng, He Shuxin, Song Hongbi, Wu Jing
Primary Institution: Guizhou Provincial People’s Hospital
Conclusion
The case highlights the importance of early detection and treatment of interrupted aortic arch in pregnant patients to improve maternal and fetal outcomes.
Supporting Evidence
- Interrupted aortic arch is a rare congenital heart defect that can be fatal without surgery.
- The patient was diagnosed with interrupted aortic arch during her second pregnancy after developing tachycardia.
- Whole-exome sequencing confirmed the presence of 22q11.2 deletion syndrome in the patient.
- Early detection and treatment of interrupted aortic arch can improve outcomes for both mother and baby.
Takeaway
A woman in her 20s had a rare heart problem during her second pregnancy, but doctors found it in time, and both she and her baby are okay now.
Methodology
The case was diagnosed through echocardiography and whole-exome sequencing.
Limitations
The patient refused further genetic testing for her children despite recommendations.
Participant Demographics
A woman in her early 20s, with no significant family history of similar disorders.
Digital Object Identifier (DOI)
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