Korean Circ J.  2019 May;49(5):461-464. 10.4070/kcj.2018.0404.

Fabry Disease that Phenocopies Hypertrophic Cardiomyopathy: a thorough Genetic ‘Detective’ Identifies the ‘Rogue’ Hidden in the GLA Gene

Affiliations
  • 1Division of Cardiology, Department of Internal Medicine, Seoul National University Hospital, Seoul, Korea. splee0624@gmail.com
  • 2Division of Endocrinology, Department of Internal Medicine, Seoul National University Hospital, Seoul, Korea.
  • 3Department of Neurology and Cerebrovascular Center, Seoul National University Bundang Hospital, Seongnam, Korea.
  • 4Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.

Abstract

No abstract available.


MeSH Terms

Cardiomyopathy, Hypertrophic*
Fabry Disease*

Figure

  • Figure 1 Initial coronary angiography shows 75% in-stent restenosis at the proximal left anterior descending artery. White dotted lines indicate the stent segment.

  • Figure 2 Optical frequency domain imaging and coronary angioscopy findings before excimer laser coronary angioplasty (A-D), and after excimer laser coronary angioplasty (E-H). (A) A cavity (red arrows) and fibroatheroma (yellow asterisks). (B) Circumferential fibrous plaque with a minimum lumen area of 2.8 mm2. (C) On angioscopy, a cavity due to plaque rupture is confirmed at the 1–2 o'clock (red arrows) position, and yellow plaque is confirmed at the 9 o'clock position (yellow asterisks). (D) Yellow arrowhead indicates stent strut. (E) On optical frequency domain imaging, ablation of the surficial plaque is confirmed (white arrows). (F) Ablation of surficial fibrous plaque is confirmed (yellow arrowhead). The minimum lumen area is 2.9 mm2. (G) On angioscopy, surficial minor bleeding is confirmed at the 9 o'clock position (yellow arrows). (H) Yellow arrowheads indicate the stent strut with neointima peeled off.

  • Figure 3 Final coronary angiography shows optimal results with no flow limitation.


Reference

1. Ambrosini V, Golino L, Niccoli G, et al. The combined use of drug-eluting balloon and excimer laser for coronary artery restenosis in-stent treatment: the DERIST study. Cardiovasc Revasc Med. 2017; 18:165–168.
Article
2. Hirose S, Ashikaga T, Hatano Y, et al. Treatment of in-stent restenosis with excimer laser coronary angioplasty: benefits over scoring balloon angioplasty alone. Lasers Med Sci. 2016; 31:1691–1696.
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