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      Familial Hypercholesterolemia in Premature Acute Coronary Syndrome. Insights from CholeSTEMI Registry

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          Abstract

          Familial hypercholesterolemia (FH) is an underdiagnosed genetic inherited condition that may lead to premature coronary artery disease (CAD). FH has an estimated prevalence in the general population of about 1:313. However, its prevalence in patients with premature STEMI (ST-elevation myocardial infarction) has not been widely studied. This study aimed to evaluate the prevalence of FH in patients with premature STEMI. Cardiovascular risk factors, LDLc (low-density lipoprotein cholesterol) evolution, and differences between genders were also evaluated. Consecutive patients were referred for cardiac catheterization to our center due to STEMI suspicion in 2018. From the 80 patients with confirmed premature CAD (men < 55 and women < 60 years old with confirmed CAD), 56 (48 men and eight women) accepted to be NGS sequenced for the main FH genes. Clinical information and DLCN (Dutch Lipid Clinic Network) score were analyzed. Only one male patient had probable FH (6–7 points) and no one reached a clinically definite diagnosis. Genetic testing confirmed that the only patient with a DLCN score ≥6 has HF (1.8%). Smoking and high BMI the most frequent cardiovascular risk factors (>80%). Despite high doses of statins being expected to reduce LDLc levels at STEMI to current dyslipidemia guidelines LDL targets (<55 mg/dL), LDLc control levels were out of range. Although still 5.4 times higher than in general population, the prevalence of FH in premature CAD is still low (1.8%). To improve the genetic yield, genetic screening may be considered among patients with probable or definite FH according to clinical criteria. The classical cardiovascular risk factors prevalence far exceeds FH prevalence in patients with premature STEMI. LDLc control levels after STEMI were out range, despite intensive hypolipemiant treatment. These findings reinforce the need for more aggressive preventive strategies in the young and for intensive lipid-lowering therapy in secondary prevention.

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          Most cited references38

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          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

          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.
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            2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk

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              OUP accepted manuscript

              (2020)
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                Author and article information

                Journal
                J Clin Med
                J Clin Med
                jcm
                Journal of Clinical Medicine
                MDPI
                2077-0383
                29 October 2020
                November 2020
                : 9
                : 11
                : 3489
                Affiliations
                [1 ]Reference Unit of Familiar Cardiomyopathies-HUCA, Área del Corazón y Departamento de Genética Molecular, Hospital Universitario Central Asturias, 33014 Oviedo, Spain; lorcarebeca@ 123456gmail.com (R.L.); eliascllavona@ 123456gmail.com (E.C.-L.); josejucasa@ 123456yahoo.es (J.J.R.R.); cesarmoris@ 123456gmail.com (C.M.); eliecer.coto@ 123456sespa.es (E.C.); uo167835@ 123456uniovi.es (J.G.)
                [2 ]Heart Area, Hospital Universitario Central de Asturias, 33014 Oviedo, Spain; apariciogavilanes@ 123456gmail.com (A.A.); ajuncovicente@ 123456gmail.com (A.J.); josesergiohevia@ 123456gmail.com (S.H.); dhvaquero@ 123456gmail.com (D.H.-V.); avanzas@ 123456gmail.com (P.A.)
                [3 ]Instituto de Investigación Sanitaria del Principado de Asturias, ISPA, 33014 Oviedo, Spain
                [4 ]Endocrinology Department, Hospital Universitario Central Asturias, 33014 Oviedo, Spain; fvillazon@ 123456yahoo.es
                Author notes
                [* ]Correspondence: ipascua@ 123456live.com
                [†]

                Equal contribution of two last co-authors: Pablo Avanzas and Juan Gómez.

                Author information
                https://orcid.org/0000-0001-5433-1364
                https://orcid.org/0000-0002-7003-3196
                https://orcid.org/0000-0003-3518-6629
                https://orcid.org/0000-0002-2871-190X
                https://orcid.org/0000-0002-4958-6108
                Article
                jcm-09-03489
                10.3390/jcm9113489
                7692119
                33137929
                6b84bdd2-2cb3-49ea-a394-49cf99df79a4
                © 2020 by the authors.

                Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ( http://creativecommons.org/licenses/by/4.0/).

                History
                : 03 September 2020
                : 26 October 2020
                Categories
                Article

                familial hypercholesterolemia (fh),myocardial infarction with st elevation (stemi),premature coronary artery disease (cad),dutch lipid clinic network (dlcn)

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