Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation.
10.4250/jcu.2016.24.4.324
- Author:
Sang Cheol CHO
1
;
Han Wook YOO
;
Jae Won LEE
;
Jeong Yoon JANG
;
Ran HEO
;
Jong Min SONG
Author Information
1. Department of Cardiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. jmsong@amc.seoul.kr
- Publication Type:Case Report
- Keywords:
Fabry disease;
Hypertrophic cardiomyopathy;
Tricuspid regurgitation
- MeSH:
Aged;
Cardiomyopathy, Hypertrophic*;
DNA;
Dyspnea;
Edema;
Exons;
Fabry Disease*;
Female;
Follow-Up Studies;
Heterozygote;
Humans;
Leg;
Mass Screening;
Plasma;
Thoracic Surgery;
Tricuspid Valve Insufficiency*
- From:Journal of Cardiovascular Ultrasound
2016;24(4):324-328
- CountryRepublic of Korea
- Language:English
-
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.
