title: Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation.
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.
authors.affiliation: Department of Cardiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Sang-Cheol
authors.initials: SC
authors.lastname: Cho
authors.affiliation: Department of Pediatrics, Medical Genetics Clinic and Laboratory, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Han-Wook
authors.initials: HW
authors.lastname: Yoo
authors.affiliation: Department of Cardiovascular Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Jae Won
authors.initials: JW
authors.lastname: Lee
authors.affiliation: Department of Cardiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Jeong Yoon
authors.initials: JY
authors.lastname: Jang
authors.affiliation: Department of Cardiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Ran
authors.initials: R
authors.lastname: Heo
authors.affiliation: Department of Cardiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Jong-Min
authors.initials: JM
authors.lastname: Song
keywords: Fabry disease; Hypertrophic cardiomyopathy; Tricuspid regurgitation