For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
4
views
43
references
 Top references
cited by
1
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
0 collections
    0
    shares
      210
      similar
       All similar
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

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

      research-article

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          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.

          Related collections

          Most cited references43

          • Record: found
          • Abstract: found
          • Article: not found

          Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

          Sue Richards, Nazneen Aziz, Sherri Bale … (2015)
          The American College of Medical Genetics and Genomics (ACMG) previously developed guidance for the interpretation of sequence variants. 1 In the past decade, sequencing technology has evolved rapidly with the advent of high-throughput next generation sequencing. By adopting and leveraging next generation sequencing, clinical laboratories are now performing an ever increasing catalogue of genetic testing spanning genotyping, single genes, gene panels, exomes, genomes, transcriptomes and epigenetic assays for genetic disorders. By virtue of increased complexity, this paradigm shift in genetic testing has been accompanied by new challenges in sequence interpretation. In this context, the ACMG convened a workgroup in 2013 comprised of representatives from the ACMG, the Association for Molecular Pathology (AMP) and the College of American Pathologists (CAP) to revisit and revise the standards and guidelines for the interpretation of sequence variants. The group consisted of clinical laboratory directors and clinicians. This report represents expert opinion of the workgroup with input from ACMG, AMP and CAP stakeholders. These recommendations primarily apply to the breadth of genetic tests used in clinical laboratories including genotyping, single genes, panels, exomes and genomes. This report recommends the use of specific standard terminology: ‘pathogenic’, ‘likely pathogenic’, ‘uncertain significance’, ‘likely benign’, and ‘benign’ to describe variants identified in Mendelian disorders. Moreover, this recommendation describes a process for classification of variants into these five categories based on criteria using typical types of variant evidence (e.g. population data, computational data, functional data, segregation data, etc.). Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends that clinical molecular genetic testing should be performed in a CLIA-approved laboratory with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or equivalent.
          Article 0 comments Cited 7980 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: not found
            • Article: not found

            2016 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure: The Task Force for the diagnosis and treatment of acute and chronic heart failure of the European Society of Cardiology (ESC)Developed with the special contribution of the Heart Failure Association (HFA) of the ESC.

            Piotr Ponikowski, Adriaan A. Voors, Stefan D. Anker … (2016)
            Article 0 comments Cited 3061 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              2022 AHA/ACC/HFSA Guideline for the Management of Heart Failure: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines

              Paul A Heidenreich, Biykem Bozkurt, David Aguilar … (2022)
              The “2022 AHA/ACC/HFSA Guideline for the Management of Heart Failure” replaces the “2013 ACCF/AHA Guideline for the Management of Heart Failure” and the “2017 ACC/AHA/HFSA Focused Update of the 2013 ACCF/AHA Guideline for the Management of Heart Failure.” The 2022 guideline is intended to provide patient-centric recommendations for clinicians to prevent, diagnose, and manage patients with heart failure. A comprehensive literature search was conducted from May 2020 to December 2020, encompassing studies, reviews, and other evidence conducted on human subjects that were published in English from MEDLINE (PubMed), EMBASE, the Cochrane Collaboration, the Agency for Healthcare Research and Quality, and other relevant databases. Additional relevant clinical trials and research studies, published through September 2021, were also considered. This guideline was harmonized with other American Heart Association/American College of Cardiology guidelines published through December 2021. Heart failure remains a leading cause of morbidity and mortality globally. The 2022 heart failure guideline provides recommendations based on contemporary evidence for the treatment of these patients. The recommendations present an evidence-based approach to managing patients with heart failure, with the intent to improve quality of care and align with patients’ interests. Many recommendations from the earlier heart failure guidelines have been updated with new evidence, and new recommendations have been created when supported by published data. Value statements are provided for certain treatments with high-quality published economic analyses.
              Article 0 comments Cited 1012 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Contributors
                Kae-Woei Liang: ekwliang@gmail.com
                Journal
                Journal ID (nlm-ta): Sci Rep
                Journal ID (iso-abbrev): Sci Rep
                Title: Scientific Reports
                Publisher: Nature Publishing Group UK (London )
                ISSN (Electronic): 2045-2322
                Publication date (Electronic): 7 October 2023
                Publication date PMC-release: 7 October 2023
                Publication date Collection: 2023
                Volume: 13
                Electronic Location Identifier: 16942
                Affiliations
                [1 ]Department of Medical Research, Taichung Veterans General Hospital, ( https://ror.org/00e87hq62) Taichung, Taiwan
                [2 ]GRID grid.265231.1, ISNI 0000 0004 0532 1428, Department of Social Work, , Tung-Hai University, ; Taichung, Taiwan
                [3 ]Department of Public Health, College of Medicine, Fu Jen Catholic University, ( https://ror.org/04je98850) New Taipei City, Taiwan
                [4 ]GRID grid.260542.7, ISNI 0000 0004 0532 3749, Institute of Genomics and Bioinformatics, , National Chung Hsing University, ; Taichung, Taiwan
                [5 ]Cardiovascular Center, Taichung Veterans General Hospital, ( https://ror.org/00e87hq62) 1650 Taiwan Boulevard, Sec. 4, Taichung, 40705 Taiwan
                [6 ]GRID grid.260542.7, ISNI 0000 0004 0532 3749, Department of Post-Baccalaureate Medicine, School of Medicine, , National Chung Hsing University, ; Taichung, Taiwan
                [7 ]School of Medicine, National Yang Ming Chiao Tung University, ( https://ror.org/00se2k293) Taipei, Taiwan
                [8 ]Institute of Molecular and Genomic Medicine, National Health Research Institutes, ( https://ror.org/02r6fpx29) Miaoli, Taiwan
                [9 ]School of Medicine, National Defense Medical Center, ( https://ror.org/02bn97g32) Taipei, Taiwan
                Article
                Publisher ID: 44065
                DOI: 10.1038/s41598-023-44065-y
                PMC ID: 10560264
                PubMed ID: 37805670
                SO-VID: fdb30b3d-71a7-4d62-be93-57fc62ffb950
                Copyright © © Springer Nature Limited 2023
                License:

                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/.

                History
                Date received : 17 March 2023
                Date accepted : 3 October 2023
                Funding
                Funded by: FundRef http://dx.doi.org/10.13039/501100010101, Taichung Veterans General Hospital;
                Award ID: TCVGH-1123103C
                Award ID: 1123103D
                Award ID: 1113104C
                Award ID: 1103102D
                Award ID: 1103101C
                Award ID: 1103102D
                Award ID: 1117313C
                Award ID: 1107310D
                Award ID: 1107314C
                Categories
                Subject: Article
                Custom metadata
                issue-copyright-statement © Springer Nature Limited 2023

                ScienceOpen disciplines: Uncategorized
                Keywords: genetics,biomarkers,cardiology,medical research,molecular medicine
                Data availability:
                ScienceOpen disciplines: Uncategorized
                Keywords: genetics, biomarkers, cardiology, medical research, molecular medicine

                Comments

                Comment on this article

                scite_

                Similar content210

                See all similar

                Cited by1

                See all cited by

                Most referenced authors1,311

                See all reference authors