Navigating a Case of Swyer Syndrome with Congenital Heart Disease
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 karyotyp...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2024-10-01
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| Series: | Heart Views |
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| Online Access: | https://journals.lww.com/10.4103/heartviews.heartviews_139_24 |
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| _version_ | 1850133272755961856 |
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| author | K. Subramanyam Dilip Johny Amita Rao Aditya Ojha |
| author_facet | K. Subramanyam Dilip Johny Amita Rao Aditya Ojha |
| author_sort | K. Subramanyam |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-a7276dbb9d234b01a54adfcf54854182 |
| institution | OA Journals |
| issn | 1995-705X 0976-5123 |
| language | English |
| publishDate | 2024-10-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Heart Views |
| spelling | doaj-art-a7276dbb9d234b01a54adfcf548541822025-08-20T02:32:00ZengWolters Kluwer Medknow PublicationsHeart Views1995-705X0976-51232024-10-0125428328710.4103/heartviews.heartviews_139_24Navigating a Case of Swyer Syndrome with Congenital Heart DiseaseK. SubramanyamDilip JohnyAmita RaoAditya OjhaA 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.https://journals.lww.com/10.4103/heartviews.heartviews_139_24asdcongenital heart diseaseswyer syndrome |
| spellingShingle | K. Subramanyam Dilip Johny Amita Rao Aditya Ojha Navigating a Case of Swyer Syndrome with Congenital Heart Disease Heart Views asd congenital heart disease swyer syndrome |
| title | Navigating a Case of Swyer Syndrome with Congenital Heart Disease |
| title_full | Navigating a Case of Swyer Syndrome with Congenital Heart Disease |
| title_fullStr | Navigating a Case of Swyer Syndrome with Congenital Heart Disease |
| title_full_unstemmed | Navigating a Case of Swyer Syndrome with Congenital Heart Disease |
| title_short | Navigating a Case of Swyer Syndrome with Congenital Heart Disease |
| title_sort | navigating a case of swyer syndrome with congenital heart disease |
| topic | asd congenital heart disease swyer syndrome |
| url | https://journals.lww.com/10.4103/heartviews.heartviews_139_24 |
| work_keys_str_mv | AT ksubramanyam navigatingacaseofswyersyndromewithcongenitalheartdisease AT dilipjohny navigatingacaseofswyersyndromewithcongenitalheartdisease AT amitarao navigatingacaseofswyersyndromewithcongenitalheartdisease AT adityaojha navigatingacaseofswyersyndromewithcongenitalheartdisease |