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4201. Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes.
作者: Mengyao Yu.;Matthew Aguirre.;Meiwen Jia.;Ketrin Gjoni.;Aldo Cordova-Palomera.;Chad Munger.;Dulguun Amgalan.;X Rosa Ma.;Alexandre Pereira.;Catherine Tcheandjieu.;Christine Seidman.;Jonathan Seidman.;Martin Tristani-Firouzi.;Wendy Chung.;Elizabeth Goldmuntz.;Deepak Srivastava.;Ruth J F Loos.;Nathalie Chami.;Heather Cordell.;Martina Dreßen.;Bertram Mueller-Myhsok.;Harald Lahm.;Markus Krane.;Katherine S Pollard.;Jesse M Engreitz.;Sarah A Gagliano Taliun.;Bruce D Gelb.;James R Priest.
来源: Circ Genom Precis Med. 2023年16卷3期258-266页
Congenital heart disease (CHD) is highly heritable, but the power to identify inherited risk has been limited to analyses of common variants in small cohorts.
4202. Cross-Sectional Gene-Smoking Interaction Analysis in Relation to Subclinical Atherosclerosis-Results From the IMPROVE Study.
作者: Buamina Maitusong.;Federica Laguzzi.;Rona J Strawbridge.;Damiano Baldassarre.;Fabrizio Veglia.;Steve E Humphries.;Kai Savonen.;Sudhir Kurl.;Matteo Pirro.;Andries J Smit.;Philippe Giral.;Angela Silveira.;Elena Tremoli.;Anders Hamsten.;Ulf de Faire.;Bruna Gigante.;Karin Leander.; .
来源: Circ Genom Precis Med. 2023年16卷3期236-247页
Smoking is associated with carotid intima-media thickness (C-IMT). However, knowledge about how genetics may influence this association is limited. We aimed to perform nonhypothesis driven gene-smoking interaction analyses to identify potential genetic variants, among those included in immune and metabolic platforms, that may modify the effect of smoking on carotid intima-media thickness.
4203. Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy.
作者: Mengyao Yu.;Andrew R Harper.;Matthew Aguirre.;Maureen Pittman.;Catherine Tcheandjieu.;Dulguun Amgalan.;Christopher Grace.;Anuj Goel.;Martin Farrall.;Ke Xiao.;Jesse Engreitz.;Katherine S Pollard.;Hugh Watkins.;James R Priest.
来源: Circ Genom Precis Med. 2023年16卷3期207-215页
A large proportion of genetic risk remains unexplained for structural heart disease involving the interventricular septum (IVS) including hypertrophic cardiomyopathy and ventricular septal defects. This study sought to develop a reproducible proxy of IVS structure from standard medical imaging, discover novel genetic determinants of IVS structure, and relate these loci to diseases of the IVS, hypertrophic cardiomyopathy, and ventricular septal defect.
4204. Longitudinal Trends in Cardiovascular Risk Factor Profiles and Complications Among Patients Hospitalized for COVID-19 Infection: Results From the American Heart Association COVID-19 Cardiovascular Disease Registry.
作者: Eric J Hall.;Colby R Ayers.;Ahmed A Kolkailah.;Christine Rutan.;Jason Walchok.;Joseph H Williams.;Tracy Y Wang.;Fatima Rodriguez.;Steven M Bradley.;Laura Stevens.;Jennifer L Hall.;Pratheek Mallya.;Gregory A Roth.;David A Morrow.;Mitchell S V Elkind.;Sandeep R Das.;James A de Lemos.
来源: Circ Cardiovasc Qual Outcomes. 2023年16卷5期e009652页
The COVID-19 pandemic has evolved through multiple phases characterized by new viral variants, vaccine development, and changes in therapies. It is unknown whether rates of cardiovascular disease (CVD) risk factor profiles and complications have changed over time.
4205. Discrimination Experiences and All-Cause and Cardiovascular Mortality: Multi-Ethnic Study of Atherosclerosis.
作者: Wayne R Lawrence.;Gieira S Jones.;Jarrett A Johnson.;Koya P Ferrell.;Jacquita N Johnson.;Meredith S Shiels.;Ana V Diez Roux.;Allana T Forde.
来源: Circ Cardiovasc Qual Outcomes. 2023年16卷4期e009697页
Epidemiologic studies have documented the associations between experiences of discrimination and adverse health outcomes. However, the relationship between discrimination and mortality, and the factors that may moderate this relationship are not well understood. This study examined whether lifetime and everyday discrimination were associated with all-cause and cardiovascular mortality and whether these associations differed by race and ethnicity, gender, and racial and ethnic residential segregation.
4206. National Human Genome Research Institute Genomic Data Science Analysis, Visualization, and Informatics Lab-Space: Reaching out to Clinicians.
作者: Jennifer L Hall.;Sally Honeycutt.;Nicole Gonzalez.;Anne O'Donnell-Luria.;Casey Overby Taylor.;Laura Stevens.;Anthony A Philippakis.;Michael C Schatz.
来源: Circ Genom Precis Med. 2023年16卷3期275-276页 4207. Biallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies.
作者: Alexandre Janin.;Evan Gouy.;Audrey Putoux.;Thomas Perouse-de-Monclos.;Philippe Chevalier.;Adèle Faucherre.;Jourdano Mancilla Abaroa.;Chris Jopling.;Sophie Collardeau Frachon.;Jelena Radojevic.;Salima El Chehadeh.;Gilles Millat.
来源: Circ Genom Precis Med. 2023年16卷3期277-279页 4208. Toll-Like Receptor 3 Mediates Aortic Stenosis Through a Conserved Mechanism of Calcification.
作者: Can Gollmann-Tepeköylü.;Michael Graber.;Jakob Hirsch.;Sophia Mair.;Andreas Naschberger.;Leo Pölzl.;Felix Nägele.;Elke Kirchmair.;Gerald Degenhart.;Egon Demetz.;Richard Hilbe.;Hao-Yu Chen.;James C Engert.;Anna Böhm.;Nadja Franz.;Daniela Lobenwein.;Daniela Lener.;Christiane Fuchs.;Anna Weihs.;Sonja Töchterle.;Georg F Vogel.;Victor Schweiger.;Jonas Eder.;Peter Pietschmann.;Markus Seifert.;Florian Kronenberg.;Stefan Coassin.;Michael Blumer.;Hubert Hackl.;Dirk Meyer.;Gudrun Feuchtner.;Rudolf Kirchmair.;Jakob Troppmair.;Markus Krane.;Günther Weiss.;Sotirios Tsimikas.;George Thanassoulis.;Michael Grimm.;Bernhard Rupp.;Lukas A Huber.;Shen-Ying Zhang.;Jean-Laurent Casanova.;Ivan Tancevski.;Johannes Holfeld.
来源: Circulation. 2023年147卷20期1518-1533页
Calcific aortic valve disease (CAVD) is characterized by a phenotypic switch of valvular interstitial cells to bone-forming cells. Toll-like receptors (TLRs) are evolutionarily conserved pattern recognition receptors at the interface between innate immunity and tissue repair. Type I interferons (IFNs) are not only crucial for an adequate antiviral response but also implicated in bone formation. We hypothesized that the accumulation of endogenous TLR3 ligands in the valvular leaflets may promote the generation of osteoblast-like cells through enhanced type I IFN signaling.
4209. Prognostic Value of Fluorine-18-Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography Imaging for Predicting Venous Thromboembolism in Children With Lymphoma.
作者: Maren Beall.;Kyra Deep.;Nguyen K Tram.;Mahboubeh Nabavinia.;Sarah A Janse.;Ting-Heng Chou.;Dariya Hardisky.;Adam J Bobbey.;Bryce A Kerlin.;Anthony N Audino.;Mitchel R Stacy.
来源: Circ Cardiovasc Imaging. 2023年16卷4期e014992页
Positron emission tomography (PET)/computed tomography (CT) imaging can detect changes in arterial inflammation, but has not been used to evaluate chemotherapy-induced venous inflammation or assess risk for venous thromboembolism (VTE) in pediatric oncology. Therefore, the purpose of this study was to evaluate the prognostic value of fluorine-18-fluorodeoxyglucose PET/CT imaging of venous inflammation for predicting VTE occurrence in the 12 months after lymphoma diagnosis in pediatric, adolescent, and young adult patients.
4211. "It's Overwhelming With the Grief" A Qualitative Study of Families' Experiences When a Young Relative Dies of Sudden Cardiac Death.
作者: Katherine S Allan.;Katherine L Mason.;Jodi Garner.;Katie N Dainty.;Dirk Huyer.;Kris Cunningham.;Paul Dorian.;Krystina B Lewis.
来源: Circ Cardiovasc Qual Outcomes. 2023年16卷4期e009524页
Sudden cardiac death (SCD) in younger individuals is frequently caused by heritable cardiac conditions. The unexpected nature of SCD leaves families with many unanswered questions and an insufficient understanding of the cause of death and their own risk for heritable disease. We explored the experiences of families of young SCD victims upon learning about their relative's cause of death and how they perceive their own risk for heritable cardiac conditions.
4214. Response by Butt et al to Letter Regarding Article, "Efficacy and Safety of Dapagliflozin According to Frailty in Patients With Heart Failure: A Prespecified Analysis of the DELIVER Trial".4215. Letter by Wong and Demers Regarding Article, "Efficacy and Safety of Dapagliflozin According to Frailty in Patients With Heart Failure: A Prespecified Analysis of the DELIVER Trial".4216. Gut Microbiota-Derived Trimethylamine N-Oxide Contributes to Abdominal Aortic Aneurysm Through Inflammatory and Apoptotic Mechanisms.
作者: Tyler W Benson.;Kelsey A Conrad.;Xinmin S Li.;Zeneng Wang.;Robert N Helsley.;Rebecca C Schugar.;Taylor M Coughlin.;Caris Wadding-Lee.;Salma Fleifil.;Hannah M Russell.;Timothy Stone.;Michael Brooks.;Jennifer A Buffa.;Kevin Mani.;Martin Björck.;Anders Wanhainen.;Naseer Sangwan.;Sudha Biddinger.;Rohan Bhandari.;Akiirayi Ademoya.;Crystal Pascual.;W H Wilson Tang.;Michael Tranter.;Scott J Cameron.;J Mark Brown.;Stanley L Hazen.;A Phillip Owens.
来源: Circulation. 2023年147卷14期1079-1096页
Large-scale human and mechanistic mouse studies indicate a strong relationship between the microbiome-dependent metabolite trimethylamine N-oxide (TMAO) and several cardiometabolic diseases. This study aims to investigate the role of TMAO in the pathogenesis of abdominal aortic aneurysm (AAA) and target its parent microbes as a potential pharmacological intervention.
4219. Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant.
作者: Antoine Delinière.;Christelle Haddad.;Claudia Herrera-Siklódy.;Alexis Hermida.;Etienne Pruvot.;Sabrina Bressieux-Degueldre.;Gilles Millat.;Alexandre Janin.;Jean-Sylvain Hermida.;Babken Asatryan.;Philippe Chevalier.
来源: Circ Genom Precis Med. 2023年16卷3期280-282页 |