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Fabry Cardiomyopathy
Fabry disease is a progressive X-linked disorder of glycosphingolipid metabolism caused by a deficiency of the α-galactosidase lysosomal enzyme. The partial or complete deficiency of the lysosomal enzyme leads to an accumulation of neutral glycosphingolipids in the vascular endothelium and visceral...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Korean Society of Echocardiography
2013
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3611116/ https://www.ncbi.nlm.nih.gov/pubmed/23560140 http://dx.doi.org/10.4250/jcu.2013.21.1.26 |
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author | Yoon, Jae Yong Song, Joon Hyuk Cheon, Sang Soo Cho, Hyun Jun Bae, Myung Hwan Lee, Jang Hoon Yang, Dong Heon Park, Hun Sik Cho, Yongkeun Chae, Shung Chull |
author_facet | Yoon, Jae Yong Song, Joon Hyuk Cheon, Sang Soo Cho, Hyun Jun Bae, Myung Hwan Lee, Jang Hoon Yang, Dong Heon Park, Hun Sik Cho, Yongkeun Chae, Shung Chull |
author_sort | Yoon, Jae Yong |
collection | PubMed |
description | Fabry disease is a progressive X-linked disorder of glycosphingolipid metabolism caused by a deficiency of the α-galactosidase lysosomal enzyme. The partial or complete deficiency of the lysosomal enzyme leads to an accumulation of neutral glycosphingolipids in the vascular endothelium and visceral tissues throughout the body. In the heart, glycosphingolipids deposition causes progressive left ventricular hypertrophy (LVH). We report a case of Fabry disease which was suspected based upon two-dimensional echocardiographic finding of LVH. A 44-year-old man was admitted to evaluation of aggravated exertional dyspnea of two weeks duration. He had been diagnosed with end-stage renal disease of unknown etiology at age 41 followed by renal transplantation that year. He had been treated with oral immunosuppressive agents. On hospital day two, transthoracic echocardiography revealed concentric LVH. Left ventricular systolic function was preserved but diastolic dysfunction was present. Fabry disease was confirmed by demonstration of a low plasma α-galactosidase A (α-Gal A) activity. Analysis of genomic DNA showed α-Gal A gene mutation. The patient was diagnosed with Fabry disease. |
format | Online Article Text |
id | pubmed-3611116 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Korean Society of Echocardiography |
record_format | MEDLINE/PubMed |
spelling | pubmed-36111162013-04-04 Fabry Cardiomyopathy Yoon, Jae Yong Song, Joon Hyuk Cheon, Sang Soo Cho, Hyun Jun Bae, Myung Hwan Lee, Jang Hoon Yang, Dong Heon Park, Hun Sik Cho, Yongkeun Chae, Shung Chull J Cardiovasc Ultrasound Case Report Fabry disease is a progressive X-linked disorder of glycosphingolipid metabolism caused by a deficiency of the α-galactosidase lysosomal enzyme. The partial or complete deficiency of the lysosomal enzyme leads to an accumulation of neutral glycosphingolipids in the vascular endothelium and visceral tissues throughout the body. In the heart, glycosphingolipids deposition causes progressive left ventricular hypertrophy (LVH). We report a case of Fabry disease which was suspected based upon two-dimensional echocardiographic finding of LVH. A 44-year-old man was admitted to evaluation of aggravated exertional dyspnea of two weeks duration. He had been diagnosed with end-stage renal disease of unknown etiology at age 41 followed by renal transplantation that year. He had been treated with oral immunosuppressive agents. On hospital day two, transthoracic echocardiography revealed concentric LVH. Left ventricular systolic function was preserved but diastolic dysfunction was present. Fabry disease was confirmed by demonstration of a low plasma α-galactosidase A (α-Gal A) activity. Analysis of genomic DNA showed α-Gal A gene mutation. The patient was diagnosed with Fabry disease. Korean Society of Echocardiography 2013-03 2013-03-20 /pmc/articles/PMC3611116/ /pubmed/23560140 http://dx.doi.org/10.4250/jcu.2013.21.1.26 Text en Copyright © 2013 Korean Society of Echocardiography http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Yoon, Jae Yong Song, Joon Hyuk Cheon, Sang Soo Cho, Hyun Jun Bae, Myung Hwan Lee, Jang Hoon Yang, Dong Heon Park, Hun Sik Cho, Yongkeun Chae, Shung Chull Fabry Cardiomyopathy |
title | Fabry Cardiomyopathy |
title_full | Fabry Cardiomyopathy |
title_fullStr | Fabry Cardiomyopathy |
title_full_unstemmed | Fabry Cardiomyopathy |
title_short | Fabry Cardiomyopathy |
title_sort | fabry cardiomyopathy |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3611116/ https://www.ncbi.nlm.nih.gov/pubmed/23560140 http://dx.doi.org/10.4250/jcu.2013.21.1.26 |
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