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Prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with coronary artery disease and reduced ejection fraction

Few studies have genetically screened variants related to familial hypercholesterolemia (FH) and investigated their survival impact in patients with coronary artery disease (CAD) and reduced left ventricular ejection fraction (EF). Patients with CAD and reduced EF (< 40%) were enrolled. Their gen...

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Autores principales: Lee, Wen-Jane, Chuang, Han-Ni, Hsiao, Tzu-Hung, Lee, Wen-Lieng, Wu, Jen-Pey, Sheu, Wayne H.-H., Liang, Kae-Woei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10560264/
https://www.ncbi.nlm.nih.gov/pubmed/37805670
http://dx.doi.org/10.1038/s41598-023-44065-y
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author Lee, Wen-Jane
Chuang, Han-Ni
Hsiao, Tzu-Hung
Lee, Wen-Lieng
Wu, Jen-Pey
Sheu, Wayne H.-H.
Liang, Kae-Woei
author_facet Lee, Wen-Jane
Chuang, Han-Ni
Hsiao, Tzu-Hung
Lee, Wen-Lieng
Wu, Jen-Pey
Sheu, Wayne H.-H.
Liang, Kae-Woei
author_sort Lee, Wen-Jane
collection PubMed
description Few studies have genetically screened variants related to familial hypercholesterolemia (FH) and investigated their survival impact in patients with coronary artery disease (CAD) and reduced left ventricular ejection fraction (EF). Patients with CAD and reduced EF (< 40%) were enrolled. Their genomic DNAs were sequenced for FH-related genes. All-cause and cardiovascular mortality data served as the major outcome. A total of 256 subjects were analyzed and 12 subjects (4.7%) carried FH-related genetic variants. After a median follow-up period of 44 months, 119 of the study subjects died. Cox survival analysis showed that carrying the FH genetic variant did not have a significant impact on the survival of CAD with reduced EF. However, higher estimated glomerular filtration rate (eGFR), better EF and beta blocker use were protective for a lower all-cause mortality. Further larger studies are needed to evaluate the impact of carrying the FH-related genetic variant on survival of CAD with reduced EF.
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spelling pubmed-105602642023-10-09 Prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with coronary artery disease and reduced ejection fraction Lee, Wen-Jane Chuang, Han-Ni Hsiao, Tzu-Hung Lee, Wen-Lieng Wu, Jen-Pey Sheu, Wayne H.-H. Liang, Kae-Woei Sci Rep Article Few studies have genetically screened variants related to familial hypercholesterolemia (FH) and investigated their survival impact in patients with coronary artery disease (CAD) and reduced left ventricular ejection fraction (EF). Patients with CAD and reduced EF (< 40%) were enrolled. Their genomic DNAs were sequenced for FH-related genes. All-cause and cardiovascular mortality data served as the major outcome. A total of 256 subjects were analyzed and 12 subjects (4.7%) carried FH-related genetic variants. After a median follow-up period of 44 months, 119 of the study subjects died. Cox survival analysis showed that carrying the FH genetic variant did not have a significant impact on the survival of CAD with reduced EF. However, higher estimated glomerular filtration rate (eGFR), better EF and beta blocker use were protective for a lower all-cause mortality. Further larger studies are needed to evaluate the impact of carrying the FH-related genetic variant on survival of CAD with reduced EF. Nature Publishing Group UK 2023-10-07 /pmc/articles/PMC10560264/ /pubmed/37805670 http://dx.doi.org/10.1038/s41598-023-44065-y Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Article
Lee, Wen-Jane
Chuang, Han-Ni
Hsiao, Tzu-Hung
Lee, Wen-Lieng
Wu, Jen-Pey
Sheu, Wayne H.-H.
Liang, Kae-Woei
Prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with coronary artery disease and reduced ejection fraction
title Prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with coronary artery disease and reduced ejection fraction
title_full Prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with coronary artery disease and reduced ejection fraction
title_fullStr Prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with coronary artery disease and reduced ejection fraction
title_full_unstemmed Prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with coronary artery disease and reduced ejection fraction
title_short Prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with coronary artery disease and reduced ejection fraction
title_sort prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with coronary artery disease and reduced ejection fraction
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10560264/
https://www.ncbi.nlm.nih.gov/pubmed/37805670
http://dx.doi.org/10.1038/s41598-023-44065-y
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