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Navigating a Case of Swyer Syndrome with Congenital Heart Disease
K Subramanyam1, Dilip Johny2, Amita Rao3
1Department of Cardiology, Srinivas Institute of Medical Sciences and Research Centre, Mangalore, Karnataka, India.
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.
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