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. 2019 Jun 7;58(18):2695–2698. doi: 10.2169/internalmedicine.2456-18

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Copyright © 2019 by The Japanese Society of Internal Medicine

The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).

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Figure. — A: Echocardiography. The arrow indicates ventricular wall thickening and a granular sparkling pattern. B: ^99mTc-pyrophosphate myocardial scintigraphy. The arrow indicates a site of ^99mTc-pyrophosphate accumulation, which suggests amyloid deposition in the myocardium. C: Cardiac magnetic resonance image with non-contrast T1 mapping. A markedly elevated myocardial native T1 value was obtained. D: Anti-PGP9.5 antibody staining of a skin specimen: the intra-epidermal nerve fiber (arrows) density was reduced. Scale bar=50μm. E: A MALDI-TOF MS analysis detected the variant peak of ATTR Y114S in addition to a wild-type TTR peak. F: A genetic analysis of exon 4 in the TTR gene. One base pair substitution (c.401A>C, p. TTR Y114S) was found.