Myocardial fibrosis assessed by magnetic resonance imaging in asymptomatic heterozygous familial hypercholesterolemia: the cholcoeur study

Background: Familial Hypercholesterolemia (FH) is an underdiagnosed condition with an increased cardiovascular risk. It is unknown whether lipid accumulation plays a role in structural myocardial changes. Cardiovascular Magnetic Resonance (CMR) is the reference technique for the morpho-functional ev...

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Autores principales:	Antonio Gallo, Philippe Giral, David Rosenbaum, Alessandro Mattina, Ali Kilinc, Alain Giron, Khaoula Bouazizi, Moussa Gueda Moussa, Joe-Elie Salem, Alain Carrié, Valérie Carreau, Sophie Béliard, Randa Bittar, Philippe Cluzel, Eric Bruckert, Alban Redheuil, Nadjia Kachenoura
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Familial hypercholesterolemia cardiovascular imaging cardiac magnetic resonance primary prevention genetic dyslipidaemia cardiovascular risk Medicine R Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/f00835c77da9482894abb416cebc919c
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spelling	oai:doaj.org-article:f00835c77da9482894abb416cebc919c2021-12-04T04:34:44ZMyocardial fibrosis assessed by magnetic resonance imaging in asymptomatic heterozygous familial hypercholesterolemia: the cholcoeur study2352-396410.1016/j.ebiom.2021.103735https://doaj.org/article/f00835c77da9482894abb416cebc919c2021-12-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2352396421005296https://doaj.org/toc/2352-3964Background: Familial Hypercholesterolemia (FH) is an underdiagnosed condition with an increased cardiovascular risk. It is unknown whether lipid accumulation plays a role in structural myocardial changes. Cardiovascular Magnetic Resonance (CMR) is the reference technique for the morpho-functional evaluation of heart chambers through cine sequences and for myocardial tissue characterization through late gadolinium enhancement (LGE) and T1 mapping images. We aimed to assess the prevalence of myocardial fibrosis in FH patients. Methods: Seventy-two asymptomatic subjects with genetically confirmed FH (mean age 49·24, range 40 to 60 years) were prospectively recruited along with 31 controls without dyslipidaemia matched for age, sex, BMI, and other cardiovascular risk factors. All underwent CMR including cine, LGE, pre- and post-contrast T1 mapping. Extracellular volume (ECV) and enhancement rate of the myocardium (ERM = difference between pre- and post-contrast myocardial T1, normalized by pre-contrast myocardial T1) were calculated. Findings: Five FH patients and none of the controls had intramyocardial LGE (p= 0·188). While no changes in Native T1 and ECV were found, post-contrast T1 was significantly lower (430·6 ± 55ms vs. 476·1 ± 43ms, p<0·001) and ERM was higher (57·44± 5·99 % vs 53·04±4·88, p=0·005) in HeFH patients compared to controls. Moreover, low post-contrast T1 was independently associated with the presence of xanthoma (HR 5·221 [1·04-26·28], p= 0·045). A composite score combining the presence of LGE, high native T1 and high ERM (defined as ≥ mean ± 1·5 SD) was found in 20·8% of the HeFH patients vs. 0% in controls (p<0·000, after adjustment for main confounders). Interpretation: CMR revealed early changes in myocardial tissue characteristics in HeFH patients, that should foster further work to better understand and prevent the underlying pathophysiological processes.Antonio GalloPhilippe GiralDavid RosenbaumAlessandro MattinaAli KilincAlain GironKhaoula BouaziziMoussa Gueda MoussaJoe-Elie SalemAlain CarriéValérie CarreauSophie BéliardRanda BittarPhilippe CluzelEric BruckertAlban RedheuilNadjia KachenouraElsevierarticleFamilial hypercholesterolemiacardiovascular imagingcardiac magnetic resonanceprimary preventiongenetic dyslipidaemiacardiovascular riskMedicineRMedicine (General)R5-920ENEBioMedicine, Vol 74, Iss , Pp 103735- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Familial hypercholesterolemia cardiovascular imaging cardiac magnetic resonance primary prevention genetic dyslipidaemia cardiovascular risk Medicine R Medicine (General) R5-920
spellingShingle	Familial hypercholesterolemia cardiovascular imaging cardiac magnetic resonance primary prevention genetic dyslipidaemia cardiovascular risk Medicine R Medicine (General) R5-920 Antonio Gallo Philippe Giral David Rosenbaum Alessandro Mattina Ali Kilinc Alain Giron Khaoula Bouazizi Moussa Gueda Moussa Joe-Elie Salem Alain Carrié Valérie Carreau Sophie Béliard Randa Bittar Philippe Cluzel Eric Bruckert Alban Redheuil Nadjia Kachenoura Myocardial fibrosis assessed by magnetic resonance imaging in asymptomatic heterozygous familial hypercholesterolemia: the cholcoeur study
description	Background: Familial Hypercholesterolemia (FH) is an underdiagnosed condition with an increased cardiovascular risk. It is unknown whether lipid accumulation plays a role in structural myocardial changes. Cardiovascular Magnetic Resonance (CMR) is the reference technique for the morpho-functional evaluation of heart chambers through cine sequences and for myocardial tissue characterization through late gadolinium enhancement (LGE) and T1 mapping images. We aimed to assess the prevalence of myocardial fibrosis in FH patients. Methods: Seventy-two asymptomatic subjects with genetically confirmed FH (mean age 49·24, range 40 to 60 years) were prospectively recruited along with 31 controls without dyslipidaemia matched for age, sex, BMI, and other cardiovascular risk factors. All underwent CMR including cine, LGE, pre- and post-contrast T1 mapping. Extracellular volume (ECV) and enhancement rate of the myocardium (ERM = difference between pre- and post-contrast myocardial T1, normalized by pre-contrast myocardial T1) were calculated. Findings: Five FH patients and none of the controls had intramyocardial LGE (p= 0·188). While no changes in Native T1 and ECV were found, post-contrast T1 was significantly lower (430·6 ± 55ms vs. 476·1 ± 43ms, p<0·001) and ERM was higher (57·44± 5·99 % vs 53·04±4·88, p=0·005) in HeFH patients compared to controls. Moreover, low post-contrast T1 was independently associated with the presence of xanthoma (HR 5·221 [1·04-26·28], p= 0·045). A composite score combining the presence of LGE, high native T1 and high ERM (defined as ≥ mean ± 1·5 SD) was found in 20·8% of the HeFH patients vs. 0% in controls (p<0·000, after adjustment for main confounders). Interpretation: CMR revealed early changes in myocardial tissue characteristics in HeFH patients, that should foster further work to better understand and prevent the underlying pathophysiological processes.
format	article
author	Antonio Gallo Philippe Giral David Rosenbaum Alessandro Mattina Ali Kilinc Alain Giron Khaoula Bouazizi Moussa Gueda Moussa Joe-Elie Salem Alain Carrié Valérie Carreau Sophie Béliard Randa Bittar Philippe Cluzel Eric Bruckert Alban Redheuil Nadjia Kachenoura
author_facet	Antonio Gallo Philippe Giral David Rosenbaum Alessandro Mattina Ali Kilinc Alain Giron Khaoula Bouazizi Moussa Gueda Moussa Joe-Elie Salem Alain Carrié Valérie Carreau Sophie Béliard Randa Bittar Philippe Cluzel Eric Bruckert Alban Redheuil Nadjia Kachenoura
author_sort	Antonio Gallo
title	Myocardial fibrosis assessed by magnetic resonance imaging in asymptomatic heterozygous familial hypercholesterolemia: the cholcoeur study
title_short	Myocardial fibrosis assessed by magnetic resonance imaging in asymptomatic heterozygous familial hypercholesterolemia: the cholcoeur study
title_full	Myocardial fibrosis assessed by magnetic resonance imaging in asymptomatic heterozygous familial hypercholesterolemia: the cholcoeur study
title_fullStr	Myocardial fibrosis assessed by magnetic resonance imaging in asymptomatic heterozygous familial hypercholesterolemia: the cholcoeur study
title_full_unstemmed	Myocardial fibrosis assessed by magnetic resonance imaging in asymptomatic heterozygous familial hypercholesterolemia: the cholcoeur study
title_sort	myocardial fibrosis assessed by magnetic resonance imaging in asymptomatic heterozygous familial hypercholesterolemia: the cholcoeur study
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/f00835c77da9482894abb416cebc919c
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Myocardial fibrosis assessed by magnetic resonance imaging in asymptomatic heterozygous familial hypercholesterolemia: the cholcoeur study

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