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J. Clin. Med. 2019, 8(4), 463; https://doi.org/10.3390/jcm8040463

Clinicopathological and Genetic Profiles of Cases with Myocyte Disarray—Investigation for Establishing the Autopsy Diagnostic Criteria for Hypertrophic Cardiomyopathy

1
Department of Legal Medicine, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama 930-0194, Japan
2
Second Department of Internal Medicine, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama 930-0194, Japan
3
Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama 930-0194, Japan
*
Author to whom correspondence should be addressed.
Received: 6 March 2019 / Revised: 31 March 2019 / Accepted: 1 April 2019 / Published: 5 April 2019
(This article belongs to the Section Cardiology)
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Abstract

Myocyte disarray of >10% in the heart is broadly accepted as a diagnostic pitfall for hypertrophic cardiomyopathy (HCM) at postmortem. The present study aims to propose an additional diagnostic criterion of HCM. Heart specimens from 1387 serial forensic autopsy cases were examined. Cases with myocyte disarray were extracted and applied to morphometric analysis to determine the amount of myocyte disarray. Comprehensive genetic analysis by using next-generation sequencing was subsequently applied for cases with myocyte disarray. Fifteen cases with myocyte disarray were extracted as candidate cases (1.1%, 11 men and 4 women, aged 48–94 years). In terms of the cause of death, only 2 cases were cardiac or possible cardiac death, and the other was non-cardiac death. Six cases showed myocyte disarray of >10% and 3 cases showed myocyte disarray of 5% to 10%. The other 6 cases showed myocyte disarray of <5%. Nine rare variants in 5 HCM-related genes (MYBPC3, MYH7, MYH6, PRKAG2, and CAV3) were found in 8 of 9 cases with myocyte disarray of >5%. The remaining 1 and 6 cases with myocyte disarray of <5% did not have any such variant. Myocyte disarray of >5% with rare variants in related genes might be an appropriate postmortem diagnostic criterion for HCM, in addition to myocyte disarray of 10%. View Full-Text
Keywords: autopsy; diagnostic criteria; hypertrophic cardiomyopathy; myocytes disarray; next-generation sequencing autopsy; diagnostic criteria; hypertrophic cardiomyopathy; myocytes disarray; next-generation sequencing
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Hata, Y.; Ichimata, S.; Yamaguchi, Y.; Hirono, K.; Oku, Y.; Ichida, F.; Nishida, N. Clinicopathological and Genetic Profiles of Cases with Myocyte Disarray—Investigation for Establishing the Autopsy Diagnostic Criteria for Hypertrophic Cardiomyopathy. J. Clin. Med. 2019, 8, 463.

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