J Cardiovasc Ultrasound.  2016 Dec;24(4):324-328. 10.4250/jcu.2016.24.4.324.

Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation

Affiliations
  • 1Department of Cardiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. jmsong@amc.seoul.kr
  • 2Department of Pediatrics, Medical Genetics Clinic and Laboratory, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • 3Department of Cardiovascular Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

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.

Keyword

Fabry disease; Hypertrophic cardiomyopathy; Tricuspid regurgitation

MeSH Terms

Aged
Cardiomyopathy, Hypertrophic*
DNA
Dyspnea
Edema
Exons
Fabry Disease*
Female
Follow-Up Studies
Heterozygote
Humans
Leg
Mass Screening
Plasma
Thoracic Surgery
Tricuspid Valve Insufficiency*
DNA

Figure

  • Fig. 1 Electrocardiogram shows atrial fibrillation and ST-T change with a mean ventricular rate of 56 bpm.

  • Fig. 2 Transthoracic echocardiography shows a markedly thickened wall of left ventricle with a high echo density (A) and severe tricuspid regurgitation (B).

  • Fig. 3 Cardiac magnetic resonance image shows a fuzzy delayed Gadolinium enhancement at the mid anterolateral and inferolateral myocardium of the left ventricle (arrow).

  • Fig. 4 Histology shows a diffuse vacuolization of myocytes (arrow) causing large clear spaces in the myocardial cells and lateralization of nucleus (hematoxylin and eosin, × 200).

  • Fig. 5 Automated sequencing profile of genomic DNA reveals a heterozygote α-galactosidase A mutation at exon 6 [c.901C>T (p.Arg301Ter)].

  • Fig. 6 Slit lamp examination shows corneal opacity and severe corneal verticillata (arrow).

  • Fig. 7 Audiogram shows bilateral sensorineural hearing loss. Bone conduction loss is noted above 4 kHz.


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