A Case of a 50-Year-Old Woman with Typical Fabry Disease Who Showed Serial Electrocardiographic and Echocardiographic Changes over a 17-Year Period
Fabry disease (FD) is a progressive, X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A activity. Affected individuals accumulate globotriaosylceramide and glycosphingolipids in the lysosomes and cytoplasm of cells throughout the body, leading to major organ failure and...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2019-01-01
|
| Series: | Case Reports in Cardiology |
| Online Access: | http://dx.doi.org/10.1155/2019/9385361 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832552570123452416 |
|---|---|
| author | Su Nam Lee Gee-Hee Kim Ki-Dong Yoo |
| author_facet | Su Nam Lee Gee-Hee Kim Ki-Dong Yoo |
| author_sort | Su Nam Lee |
| collection | DOAJ |
| description | Fabry disease (FD) is a progressive, X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A activity. Affected individuals accumulate globotriaosylceramide and glycosphingolipids in the lysosomes and cytoplasm of cells throughout the body, leading to major organ failure and premature death. Cardiac involvement includes left ventricular hypertrophy, arrhythmia, endothelial dysfunction at vascular wall, and cardiomyopathy. The diagnosis of FD can be difficult and there is often a long lag time between symptoms and diagnosis. Here, we present a case of a 50-year-old woman with typical Fabry disease who showed serial electrocardiographic and echocardiographic changes over 17 years prior to diagnosis with Fabry disease. |
| format | Article |
| id | doaj-art-677b2a6624e9491eb18300e8f3ef6ccc |
| institution | Kabale University |
| issn | 2090-6404 2090-6412 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Cardiology |
| spelling | doaj-art-677b2a6624e9491eb18300e8f3ef6ccc2025-02-03T05:58:17ZengWileyCase Reports in Cardiology2090-64042090-64122019-01-01201910.1155/2019/93853619385361A Case of a 50-Year-Old Woman with Typical Fabry Disease Who Showed Serial Electrocardiographic and Echocardiographic Changes over a 17-Year PeriodSu Nam Lee0Gee-Hee Kim1Ki-Dong Yoo2Division of Cardiology, Department of Internal Medicine, St. Vincent’s Hospital, The Catholic University of Korea, Seoul, Republic of KoreaDivision of Cardiology, Department of Internal Medicine, St. Vincent’s Hospital, The Catholic University of Korea, Seoul, Republic of KoreaDivision of Cardiology, Department of Internal Medicine, St. Vincent’s Hospital, The Catholic University of Korea, Seoul, Republic of KoreaFabry disease (FD) is a progressive, X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A activity. Affected individuals accumulate globotriaosylceramide and glycosphingolipids in the lysosomes and cytoplasm of cells throughout the body, leading to major organ failure and premature death. Cardiac involvement includes left ventricular hypertrophy, arrhythmia, endothelial dysfunction at vascular wall, and cardiomyopathy. The diagnosis of FD can be difficult and there is often a long lag time between symptoms and diagnosis. Here, we present a case of a 50-year-old woman with typical Fabry disease who showed serial electrocardiographic and echocardiographic changes over 17 years prior to diagnosis with Fabry disease.http://dx.doi.org/10.1155/2019/9385361 |
| spellingShingle | Su Nam Lee Gee-Hee Kim Ki-Dong Yoo A Case of a 50-Year-Old Woman with Typical Fabry Disease Who Showed Serial Electrocardiographic and Echocardiographic Changes over a 17-Year Period Case Reports in Cardiology |
| title | A Case of a 50-Year-Old Woman with Typical Fabry Disease Who Showed Serial Electrocardiographic and Echocardiographic Changes over a 17-Year Period |
| title_full | A Case of a 50-Year-Old Woman with Typical Fabry Disease Who Showed Serial Electrocardiographic and Echocardiographic Changes over a 17-Year Period |
| title_fullStr | A Case of a 50-Year-Old Woman with Typical Fabry Disease Who Showed Serial Electrocardiographic and Echocardiographic Changes over a 17-Year Period |
| title_full_unstemmed | A Case of a 50-Year-Old Woman with Typical Fabry Disease Who Showed Serial Electrocardiographic and Echocardiographic Changes over a 17-Year Period |
| title_short | A Case of a 50-Year-Old Woman with Typical Fabry Disease Who Showed Serial Electrocardiographic and Echocardiographic Changes over a 17-Year Period |
| title_sort | case of a 50 year old woman with typical fabry disease who showed serial electrocardiographic and echocardiographic changes over a 17 year period |
| url | http://dx.doi.org/10.1155/2019/9385361 |
| work_keys_str_mv | AT sunamlee acaseofa50yearoldwomanwithtypicalfabrydiseasewhoshowedserialelectrocardiographicandechocardiographicchangesovera17yearperiod AT geeheekim acaseofa50yearoldwomanwithtypicalfabrydiseasewhoshowedserialelectrocardiographicandechocardiographicchangesovera17yearperiod AT kidongyoo acaseofa50yearoldwomanwithtypicalfabrydiseasewhoshowedserialelectrocardiographicandechocardiographicchangesovera17yearperiod AT sunamlee caseofa50yearoldwomanwithtypicalfabrydiseasewhoshowedserialelectrocardiographicandechocardiographicchangesovera17yearperiod AT geeheekim caseofa50yearoldwomanwithtypicalfabrydiseasewhoshowedserialelectrocardiographicandechocardiographicchangesovera17yearperiod AT kidongyoo caseofa50yearoldwomanwithtypicalfabrydiseasewhoshowedserialelectrocardiographicandechocardiographicchangesovera17yearperiod |