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Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation

Sang-Cheol Cho1, Han-Wook Yoo2, Jae Won Lee3

  • 1Department of Cardiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Journal of Cardiovascular Ultrasound
|January 17, 2017
PubMed

Insights

Fabry disease can be easily missed, even in patients with hypertrophic cardiomyopathy. Early clinical suspicion is crucial for timely diagnosis and management of this genetic disorder.

Area of Science:

  • Cardiology
  • Medical Genetics

Background:

  • A 71-year-old female with a history of nonobstructive hypertrophic cardiomyopathy since 1999 presented with dyspnea and severe leg edema.
  • The patient underwent cardiac surgery for symptom management, including tricuspid annuloplasty, Maze operation, and right atrial reduction plasty.

Observation:

  • Post-surgery follow-up included screening for Fabry disease via plasma alpha-galactosidase activity.
  • Initial screening showed alpha-galactosidase activity near the lower normal limit, prompting further investigation.

Findings:

  • Genetic analysis confirmed a heterozygote mutation in the alpha-galactosidase gene (c.901C>T, p.Arg301Ter) at exon 6.
  • This genetic finding identified the underlying cause of potential Fabry disease.

Implications:

  • This case highlights the potential for Fabry disease to be underdiagnosed, particularly in patients with cardiac conditions.
  • Emphasizes the critical role of clinical suspicion in identifying Fabry disease, even with borderline biochemical markers.
  • Suggests a need for increased awareness and targeted genetic screening for Fabry disease in at-risk populations.

Keywords:
Fabry diseaseHypertrophic cardiomyopathyTricuspid regurgitation

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