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Case Reports
. 2024 Oct-Dec;25(4):283-287.
doi: 10.4103/heartviews.heartviews_139_24. Epub 2025 May 10.

Navigating a Case of Swyer Syndrome with Congenital Heart Disease

K Subramanyam  1 , Dilip Johny  2 , Amita Rao  3 , Aditya Ojha  4
Affiliations
Case Reports

Navigating a Case of Swyer Syndrome with Congenital Heart Disease

K Subramanyam et al. Heart Views. 2024 Oct-Dec.

Abstract

A 38-year-old female underwent septal closure for a large ostium secundum atrial septal defect (ASD) as she had progressive dyspnea. She was also found to have primary amenorrhea, for which she was evaluated. The clinical examination and investigations revealed a female phenotype and a male karyotype (46 XY). She was diagnosed with Swyer syndrome and subsequently started on hormone replacement therapy. This case highlights the presence of congenital heart disease and large ostium secundum ASD with left to right shunt in patients with Swyer syndrome, which has not been reported in the literature.

Keywords: ASD; Swyer syndrome; congenital heart disease.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Pre- and postprocedure echocardiograph. (a) Ostium secundum atrial septal defect (ASD) (preprocedure). (b) Postdevice closure of ASD. RV: Right ventricle, LV: Left ventricle, RA: Right atrium, LA: Left atrium
Figure 2
Figure 2
Differential diagnosis of swyer syndrome
Figure 3
Figure 3
Karyotyping
Figure 4
Figure 4
Flourescnece in situ hybridization
See this image and copyright information in PMC

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References

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