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Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation
- Source :
- Journal of Cardiovascular Ultrasound
- Publication Year :
- 2016
- Publisher :
- Korean Society of Echocardiography, 2016.
-
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.
- Subjects :
- medicine.medical_specialty
Fabry disease
business.industry
Severe edema
Hypertrophic cardiomyopathy
Case Report
Regurgitation (circulation)
Tricuspid regurgitation
030204 cardiovascular system & hematology
medicine.disease
Right atrial
Normal limit
Cardiac surgery
03 medical and health sciences
0302 clinical medicine
Tricuspid annuloplasty
Internal medicine
medicine
Cardiology
Radiology, Nuclear Medicine and imaging
Cardiology and Cardiovascular Medicine
business
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- ISSN :
- 20059655 and 19754612
- Volume :
- 24
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Journal of Cardiovascular Ultrasound
- Accession number :
- edsair.doi.dedup.....fd98395c0d259e01f687e9ec942513ad