Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Cho, Sang-Cheol | - |
dc.contributor.author | Yoo, Han-Wook | - |
dc.contributor.author | Lee, Jae Won | - |
dc.contributor.author | Jang, Jeong Yoon | - |
dc.contributor.author | Heo, Ran | - |
dc.contributor.author | Song, Jong-Min | - |
dc.date.accessioned | 2021-07-30T05:26:07Z | - |
dc.date.available | 2021-07-30T05:26:07Z | - |
dc.date.created | 2021-05-14 | - |
dc.date.issued | 2016-12 | - |
dc.identifier.issn | 1975-4612 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/4855 | - |
dc.description.abstract | A 71-year-old female who was diagnosed with nonobstructive hypertrophic cardiomyopathy since 1999 presented with dyspnea and severe edema on both legs. For the management of her symptom, cardiac surgery including tricuspid annuloplasty, Maze operation and right atrial reduction plasty was performed. During follow-up after cardiac surgery, a plasma α-galactosidase activity was checked for the screening of Fabry disease and the result was around lower normal limit. DNA analysis was implemented for confirmation and it revealed a heterozygote α-galactosidase mutation at exon 6 [c.901C>T (p.Arg301Ter)]. This case suggests that Fabry disease might be easily undetected, and clinical suspicion is critical. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | Korean Society of Echocardiography | - |
dc.title | Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Heo, Ran | - |
dc.identifier.doi | 10.4250/jcu.2016.24.4.324 | - |
dc.identifier.scopusid | 2-s2.0-85007621925 | - |
dc.identifier.bibliographicCitation | Journal of Cardiovascular Ultrasound, v.24, no.4, pp.324 - 328 | - |
dc.relation.isPartOf | Journal of Cardiovascular Ultrasound | - |
dc.citation.title | Journal of Cardiovascular Ultrasound | - |
dc.citation.volume | 24 | - |
dc.citation.number | 4 | - |
dc.citation.startPage | 324 | - |
dc.citation.endPage | 328 | - |
dc.type.rims | ART | - |
dc.type.docType | 정기학술지(Article(Perspective Article포함)) | - |
dc.identifier.kciid | ART002175570 | - |
dc.description.journalClass | 1 | - |
dc.description.isOpenAccess | Y | - |
dc.description.journalRegisteredClass | scopus | - |
dc.description.journalRegisteredClass | kci | - |
dc.subject.keywordPlus | alpha galactosidase | - |
dc.subject.keywordPlus | gadolinium | - |
dc.subject.keywordAuthor | Fabry disease | - |
dc.subject.keywordAuthor | Hypertrophic cardiomyopathy | - |
dc.subject.keywordAuthor | Tricuspid regurgitation | - |
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