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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Heart, Lung, Blood and Sleep Disorders
Last data update: May 18, 2024
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2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.
Steve R Ommen et al. Circulation 2024
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2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.
et al. J Am Coll Cardiol 2024
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Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy.
Mahati Pidaparti et al. J Clin Med 2024 13(9)
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Healthcare utilization and behavior changes following workplace genetic testing at a large U.S. healthcare system.
Elizabeth Charnysh et al. Genet Med 2024 101160
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Clinical Decision Analysis of Genetic Evaluation and Testing in 1013 Intensive Care Unit Infants with Congenital Heart Defects Supports Universal Genetic Testing.
Benjamin M Helm et al. Genes (Basel) 2024 15(4)
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Prevalence of elevated lipoprotein(a) in cardiac rehabilitation patients - results from a large-scale multicentre registry in Germany.
Christoph Altmann et al. Clin Res Cardiol 2024
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Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance.
Jane Murphy et al. Ir J Med Sci 2024
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A call for increased inclusivity and global representation in pharmacogenetic testing.
April Kennedy et al. NPJ Genom Med 2024 9(1) 13
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Cost-Effectiveness of Population-Based Multigene Testing for Breast and Ovarian Cancer Prevention.
Fangjian Guo et al. JAMA Netw Open 2024 7(2) e2356078
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Familial Hypercholesterolemia Variant and Cardiovascular Risk in Individuals With Elevated Cholesterol.
Yiyi Zhang et al. JAMA Cardiol 2024
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Heart Disease Risk Higher with Genetic Variant Plus Even Slightly Elevated Cholesterol
Inside Precision Medicine, February 2, 2023
The Impact of Integration of a Genetic Clinic Into a Pediatric Cardiac Unit.
Ayman Elfky et al. Cureus 2024 15(12) e50941
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Combined population genomic screening for three high-risk conditions in Australia: a modelling study.
Paul Lacaze et al. EClinicalMedicine 2024 66102297
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Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies.
Alice Maria Luderitz Hoefel et al. J Community Genet 2024
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Family history, socioeconomic factors, comorbidities, health behaviors, and the risk of sudden cardiac arrest.
Eujene Jung et al. Sci Rep 2023 13(1) 21341
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Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Guillaume Jedraszak et al. Am J Med Genet A 2023
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Stigma manifestations in cardiomyopathy care impact outcomes for black patients: a qualitative study.
Morgan Wolfgang et al. BMC Cardiovasc Disord 2023 23(1) 553
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Genetic counselors and congenital heart disease: Clinical roles, genetic testing practices, and perceived genetic testing utility.
Sara M Fitzgerald-Butt et al. J Genet Couns 2023
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Repurposing Normal Chromosomal Microarray Data to Harbor Genetic Insights into Congenital Heart Disease.
Nephi A Walton et al. Biology (Basel) 2023 12(10)
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Novel Finnish-enriched variants causing severe hypercholesterolemia and their clinical impact on coronary artery disease.
Nella Junna et al. Atherosclerosis 2023 117327
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Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot.
Drayton C Harvey et al. Front Cardiovasc Med 2023 101249605
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Genetic and Nongenetic Components of Stroke Family History: A Population Study of Adopted and Nonadopted Individuals.
Ernst Mayerhofer et al. J Am Heart Assoc 2023 12(20) e031566
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Health status and comorbidities of adult patients with late-diagnosed phenylketonuria (PKU) born before the newborn screening in France - A nationwide study of health insurance claims data.
Claire Douillard et al. Mol Genet Metab 2023 140(3) 107704
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The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death
ES Singer et al, NPJ Genomic Medicine, October 11, 2023
A linear weighted combination of polygenic scores for a broad range of traits improves prediction of coronary heart disease.
Kristjan Norland et al. Eur J Hum Genet 2023
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Risk perception and intended behavior change after uninformative genetic results for adult-onset hereditary conditions in unselected patients.
Nandana D Rao et al. Eur J Hum Genet 2023
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Impact of providing genetics-based future cardiovascular risk on LDL-C in patients with familial hypercholesterolemia.
Akihiro Nomura et al. J Clin Lipidol 2023
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A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.
Benjamin J Landis et al. J Am Heart Assoc 2023 e029340
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Experts say Found’s story highlights the extraordinary complexity of the problem for pregnant people living with SCD – and the critical importance of receiving proper, specialized care as early as possible. This is especially true now that medical advances in care and disease-modifying therapies have helped many people living with SCD survive well through their reproductive years. For parents-to-be, that means awareness is key. Individuals with SCD are at higher risk than the general population for preeclampsia, as Found discovered; but those with preeclampsia can go on to develop a condition called eclampsia, which can lead to seizures and even coma. People with SCD are also at higher risk for sepsis and blood clots. And there are risks for the fetus, such as lower-than-normal growth in the womb, preterm delivery, and stillbirth.
K Miller, Self, September 2023
Screening and clinical characteristics analysis of familial hypercholesterolemia in a tertiary public hospital.
Tianzhou Shen et al. Front Cardiovasc Med 2023 101237261
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 18, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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