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

Abstract 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 Fingestur...

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Autores principales:	Lauri Holmström, Katri Pylkäs, Anna Tervasmäki, Juha Vähätalo, Katja Porvari, Lasse Pakanen, Kari S. Kaikkonen, Juha S. Perkiömäki, Antti M. Kiviniemi, Risto Kerkelä, Olavi Ukkola, Robert J. Myerburg, Heikki V. Huikuri, Juhani Junttila
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/114df0d571394915b5cd3f2ed4d33d2b
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spelling	oai:doaj.org-article:114df0d571394915b5cd3f2ed4d33d2b2021-12-02T15:00:25ZGenetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims10.1038/s41598-021-90693-72045-2322https://doaj.org/article/114df0d571394915b5cd3f2ed4d33d2b2021-05-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-90693-7https://doaj.org/toc/2045-2322Abstract 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.Lauri HolmströmKatri PylkäsAnna TervasmäkiJuha VähätaloKatja PorvariLasse PakanenKari S. KaikkonenJuha S. PerkiömäkiAntti M. KiviniemiRisto KerkeläOlavi UkkolaRobert J. MyerburgHeikki V. HuikuriJuhani JunttilaNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Lauri Holmström Katri Pylkäs Anna Tervasmäki Juha Vähätalo Katja Porvari Lasse Pakanen Kari S. Kaikkonen Juha S. Perkiömäki Antti M. Kiviniemi Risto Kerkelä Olavi Ukkola Robert J. Myerburg Heikki V. Huikuri Juhani Junttila Genetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims
description	Abstract 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.
format	article
author	Lauri Holmström Katri Pylkäs Anna Tervasmäki Juha Vähätalo Katja Porvari Lasse Pakanen Kari S. Kaikkonen Juha S. Perkiömäki Antti M. Kiviniemi Risto Kerkelä Olavi Ukkola Robert J. Myerburg Heikki V. Huikuri Juhani Junttila
author_facet	Lauri Holmström Katri Pylkäs Anna Tervasmäki Juha Vähätalo Katja Porvari Lasse Pakanen Kari S. Kaikkonen Juha S. Perkiömäki Antti M. Kiviniemi Risto Kerkelä Olavi Ukkola Robert J. Myerburg Heikki V. Huikuri Juhani Junttila
author_sort	Lauri Holmström
title	Genetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims
title_short	Genetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims
title_full	Genetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims
title_fullStr	Genetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims
title_full_unstemmed	Genetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims
title_sort	genetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/114df0d571394915b5cd3f2ed4d33d2b
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Genetic contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims

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