Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation
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A 71-year-old female who was diagnosed with nonobstructive hypertrophic cardiomyopathy since 1999 presented with dyspneaand severe edema on both legs. For the management of her symptom, cardiac surgery including tricuspid annuloplasty, Maze operationand right atrial reduction plasty was performed. During follow-up after cardiac surgery, a plasma α-galactosidase activitywas checked for the screening of Fabry disease and the result was around lower normal limit. DNA analysis was implemented forconfirmation and it revealed a heterozygote α-galactosidase mutation at exon 6 [c.901C>T (p.Arg301Ter)]. This case suggeststhat Fabry disease might be easily undetected, and clinical suspicion is critical.
Abstract
A 71-year-old female who was diagnosed with nonobstructive hypertrophic cardiomyopathy since 1999 presented with dyspneaand severe edema on both legs. For the management of her symptom, cardiac surgery including tricuspid annuloplasty, Maze operationand right atrial reduction plasty was performed. During follow-up after cardiac surgery, a plasma α-galactosidase activitywas checked for the screening of Fabry disease and the result was around lower normal limit. DNA analysis was implemented forconfirmation and it revealed a heterozygote α-galactosidase mutation at exon 6 [c.901C>T (p.Arg301Ter)]. This case suggeststhat Fabry disease might be easily undetected, and clinical suspicion is critical.
참고문헌 (15)
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