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Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation.

Title
Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation.
Author
허란
Keywords
Fabry disease; Hypertrophic cardiomyopathy; Tricuspid regurgitation
Issue Date
2016-12
Publisher
Korean Society of Echocardiography
Citation
Journal of Cardiovascular Ultrasound, v. 24, Issue 4, Page.324-328
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.
URI
https://synapse.koreamed.org/DOIx.php?id=10.4250/jcu.2016.24.4.324https://repository.hanyang.ac.kr/handle/20.500.11754/101575
ISSN
1975-4612; 2005-9655
DOI
10.4250/jcu.2016.24.4.324
Appears in Collections:
COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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