University of Oulu

Holmström, L., Pylkäs, K., Tervasmäki, A. et al. Genetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims. Sci Rep 11, 11171 (2021).

Genetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims

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Author: Holmström, Lauri1; Pylkäs, Katri2; Tervasmäki, Anna2;
Organizations: 1Research Unit of Internal Medicine, Medical Research Center Oulu, University of Oulu and Oulu University Hospital, PO Box 5000, 90014, Oulu, Finland
2Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit and Biocenter Oulu, University of Oulu, Oulu, Finland
3Department of Forensic Medicine, Research Unit of Internal Medicine, Medical Research Center Oulu, University of Oulu, Oulu, Finland
4Forensic Medicine Unit, National Institute for Health and Welfare (THL), Oulu, Finland
5Research Unit of Biomedicine, University of Oulu, Oulu, Finland
6Division of Cardiology, University of Miami Miller School of Medicine, Miami, FL, USA
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 1.3 MB)
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Language: English
Published: Springer Nature, 2021
Publish Date: 2021-09-22


The contribution of genetic variants to non-ischemic sudden cardiac death (SCD) due to acquired myocardial diseases is unclear. We studied whether SCD victims with hypertension/obesity related hypertrophic myocardial disease harbor potentially disease associated gene variants. The Fingesture study has collected data from 5869 autopsy-verified SCD victims in Northern Finland. Among SCD victims, 740 (13%) had hypertension and/or obesity as the most likely explanation for myocardial disease with hypertrophy and fibrosis. We performed next generation sequencing using a panel of 174 cardiac genes for 151 such victims with the best quality of DNA. We used 48 patients with hypertension and hypertrophic heart as controls. Likely pathogenic variants were identified in 15 SCD victims (10%) and variants of uncertain significance (VUS) were observed in additional 43 SCD victims (28%). In controls, likely pathogenic variants were present in two subjects (4%; p = 0.21) and VUSs in 12 subjects (25%; p = 0.64). Among SCD victims, presence of potentially disease-related variants was associated with lower mean BMI and heart weight. Potentially disease related gene variants are common in non-ischemic SCD but further studies are required to determine specific contribution of rare genetic variants to the extent of acquired myocardial diseases leading to SCD.

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Series: Scientific reports
ISSN: 2045-2322
ISSN-E: 2045-2322
ISSN-L: 2045-2322
Volume: 11
Issue: 1
Article number: 11171
DOI: 10.1038/s41598-021-90693-7
Type of Publication: A1 Journal article – refereed
Field of Science: 1184 Genetics, developmental biology, physiology
3121 General medicine, internal medicine and other clinical medicine
Funding: The study was supported by Sigrid Juselius Foundation, Finnish Foundation for Cardiovascular Research, Yrjö Jahnsson Foundation, Paavo Nurmi Foundation, Aarne Koskelo Foundation, Paulo Foundation, Finnish Medical Foundation, Aatos and Jane Erkko Foundation, Miami Heart Research Institute, Leducq Foundation, Paris, France.
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