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121. Risk for Heart Failure and Atrial Fibrillation Across the Lifespan for Carriers of the Amyloidogenic p.V142I TTR Variant.
作者: Justin L Grodin.;Anand Gupta.;Ishan Rison.;Julia Kozlitina.;Lorena Saelices-Gomez.;Saket Girotra.;Amil M Shah.;Lori R Roth.;Jan M Griffin.;Mark H Drazner.;W H Wilson Tang.;Mathew S Maurer.;James A de Lemos.
来源: Circ Genom Precis Med. 2025年18卷4期e004911页
To better define the importance of the amyloidogenic p.V142I TTR allele across the life span of a carrier, we leveraged data from All of Us to provide a generalizable assessment of the population-level burden of cardiovascular risk and estimate the age at disease onset.
130. Lung Single-Cell Transcriptomics Reveal Diverging Pathobiology and Opportunities for Precision Targeting in Scleroderma-Associated Versus Idiopathic Pulmonary Arterial Hypertension.
作者: Tijana Tuhy.;Julie C Coursen.;Tammy Graves.;Michael Patatanian.;Christopher Cherry.;Shannon E Niedermeyer.;Sarah L Khan.;Darin T Rosen.;Michael P Croglio.;Mohab Elnashar.;Todd M Kolb.;Stephen C Mathai.;Rachel L Damico.;Paul M Hassoun.;Larissa A Shimoda.;Karthik Suresh.;Micheala A Aldred.;Catherine E Simpson.
来源: Circ Genom Precis Med. 2025年18卷4期e004936页
Pulmonary arterial hypertension (PAH) involves progressive cellular and molecular change within the pulmonary vasculature, leading to increased vascular resistance. Current therapies targeting nitric oxide, endothelin, and prostacyclin pathways yield variable treatment responses. Patients with systemic sclerosis-associated PAH (SSc-PAH) often experience worse outcomes than those with idiopathic PAH (IPAH). We hypothesized that distinct and overlapping gene expression patterns in SSc-PAH versus IPAH lung tissues could inform the investigation of precision-targeted therapies.
131. Association of Smoking Cannabis With Cardiovascular Events Among Veterans With Coronary Artery Disease.
作者: Salomeh Keyhani.;Beth E Cohen.;Marzieh Vali.;Katherine J Hoggatt.;Dawn M Bravata.;Peter C Austin.;Emily Lum.;Deborah Hasin.;Carl Grunfeld.;Michael G Shlipak.
来源: Circulation. 2025年152卷6期352-365页
Whether cannabis is a risk factor for cardiovascular events is unknown. We examined the association between smoking cannabis and cardiovascular events in a cohort of older veterans (66 to 68 years of age) with coronary artery disease.
132. Calibrated Functional Data Decrease Clinical Uncertainty for KCNH2-Related Long-QT Syndrome.
作者: Chai-Ann Ng.;Matthew J O'Neill.;Samskruthi R Padigepati.;Yi-Lee Ting.;Flavia M Facio.;Matteo Vatta.;Sarah R Poll.;Jason A Reuter.;Jamie I Vandenberg.;Brett M Kroncke.
来源: Circ Genom Precis Med. 2025年18卷4期e005204页 133. VEGFA Stop-Gained Variant Deteriorates Cardiac Remodeling in Myocardial Infarction.
作者: Zhongxiang Chen.;Diqi Zhu.;Kaa Seng Lai.;Yiwei Chen.;Yuqing Hu.;Yabo Fang.;Zihang Yan.;Beibei Hu.;Zhen Zhang.;Min Zhang.;Fen Li.
来源: Circ Genom Precis Med. 2025年18卷4期e004879页
A sustained dosage of VEGFA (vascular endothelial growth factor A) is crucial for angiogenesis in both homeostasis and cardiovascular diseases. Start codon CUG-initiated alternative translation is a conserved mechanism for producing mature VEGFA. Genetic surveys have identified stop-gained variants predicted to prematurely terminate CUG-initiated translation without affecting start codon ATG-initiated translation. However, the impacts of these variants on the vasculature in steady-state and disease conditions remain unknown.
134. Ventricular Arrhythmia and Cardiac Fibrosis in Endurance Experienced Athletes (VENTOUX).
作者: Wasim Javed.;Ioannis Botis.;Ze Min Goh.;Mubien Shabi.;Benjamin Brown.;Raluca Tomoaia.;Maryum Farooq.;Eylem Levelt.;Lee Graham.;John Gierula.;Peter Kellman.;John P Greenwood.;Sven Plein.;Peter P Swoboda.
来源: Circ Cardiovasc Imaging. 2025年18卷8期e018470页
Sudden cardiac death due to primary arrhythmia is a leading cause of mortality in athletes, predominantly affecting older male athletes. Myocardial fibrosis is strongly associated with arrhythmogenesis in nonischemic cardiomyopathy, but its clinical significance in asymptomatic endurance athletes is unknown. We aimed to investigate whether myocardial fibrosis on cardiovascular magnetic resonance in asymptomatic veteran male athletes was associated with incident ventricular arrhythmia on long-term implantable loop recorder.
136. Early Vascular Aging Determined by 3-Dimensional Aortic Geometry: Genetic Determinants and Clinical Consequences.
作者: Cameron Beeche.;Bingxin Zhao.;Hamed Tavolinejad.;Bianca Pourmussa.;Joonghyun Kim.;Jeffrey Duda.;James Gee.;Walter R Witschey.;Julio A Chirinos.; .
来源: Circulation. 2025年
Vascular aging is an important phenotype characterized by structural and geometric remodeling. Some individuals exhibit supernormal vascular aging, associated with improved cardiovascular outcomes; others experience early vascular aging, linked to adverse cardiovascular outcomes. The aorta is the artery that exhibits the most prominent age-related changes; however, the biological mechanisms underlying aortic aging, its genetic architecture, and its relationship with cardiovascular structure, function, and disease states remain poorly understood.
137. Cardiac Troponin C E135A Variant Impairs Myofilament Response to PKA Phosphorylation and Is Associated With Autosomal Dominant Dilated Cardiomyopathy With Diastolic Dysfunction.
作者: Maicon Landim-Vieira.;Robin M Perelli.;Michelle Rodriguez-Garcia.;Vivek P Jani.;Ronnie C Chastain.;Joshua H Lamar.;Ellen Mines.;Gwimoon Seo.;Aurelia Araujo Fernandes.;Bjorn Knollmann.;Michael P Carboni.;Stephen P Chelko.;Vitold E Galkin.;P Bryant Chase.;Jose Renato Pinto.;Andrew P Landstrom.
来源: Circ Genom Precis Med. 2025年18卷4期e004720页
Dilated cardiomyopathy (DCM) is a heart muscle disease in which the left ventricle is enlarged, resulting in systolic dysfunction. Pathogenic variants in genes encoding proteins involved in cardiac contractility, cytoskeleton structure, and Ca2+ handling have been associated with DCM. TNNC1 (cTnC [cardiac troponin C]) variants are implicated in DCM, hypertrophic, and restrictive cardiomyopathies. Unlike other sarcomere genes, most reports of TNNC1 variants lack segregation or pedigree data, partly because the majority of the variants described, to date, have been reported as de novo. Therefore, a critical need is warranted to further understand the mechanisms by which TNNC1 variants could impact myofilament function, especially in response to PKA (protein kinase A)-mediated phosphorylation as this posttranslational modification modulates sarcomere function in response to β-adrenergic stimulation.
138. Neurodevelopmental Outcomes in Early Adolescence: The Pediatric Heart Network Single Ventricle Reconstruction Trial.
作者: Thomas A Miller.;Binu Sharma.;Russell Gongwer.;Felicia L Trachtenberg.;Jane W Newburger.;Caren S Goldberg.;Kathryn E Gustafson.;J William Gaynor.;Jodie K Votava-Smith.;Linda M Lambert.;Renee Sananes.;Mary C Kral.;Rocky Tsang.;Kimberley P Heinrich.;James Cnota.;Amee Shah.;Dawn Ilardi.; .
来源: Circulation. 2025年
Neurodevelopmental and functional impairments are among the most consequential morbidities for survivors of hypoplastic left heart syndrome after staged single ventricle surgical palliation. The SVRIII trial (Long-Term Outcomes of Children With Hypoplastic Left Heart Syndrome and the Impact of Norwood Shunt Type) enrolled adolescents, who were randomized to different surgical shunt types at the time of Norwood procedure as neonates, for multifaceted in-person evaluation. This study reports their neurodevelopmental outcomes.
139. Long-Term Follow-Up in Severe Mitral Stenosis With Low Transmitral Diastolic Pressure Gradient: From MASTER Registry.
作者: Iksung Cho.;Dae-Young Kim.;Jinseob Kim.;Ha Jeong Lim.;Jiwon Seo.;Kyu Kim.;Seo-Yeon Gwak.;Hyun-Jung Lee.;Hee Jeong Lee.;Kyu-Yong Ko.;Chi Young Shim.;Jong-Won Ha.;Seonhwa Lee.;In-Cheol Kim.;Kang-Un Choi.;Jang-Won Son.;Joo Hee Park.;Geu-Ru Hong.;Jagat Narula.
来源: Circ Cardiovasc Imaging. 2025年e018124页
Long-term follow-up studies in severe mitral stenosis (MS) with low transmitral mean diastolic pressure gradient (MDPG) are not available. We evaluated the prognostic implications of severe MS with low MDPG in our MASTER (Multicenter Mitral Stenosis with Rheumatic Etiology) registry.
140. Assessing LV Contractility Identifies Populations With Preserved Ejection Fraction at Risk of Adverse Heart Failure Outcomes.
作者: Sam Straw.;Oliver I Brown.;Charlotte A Cole.;Judith E Lowry.;Marcella Conning-Rowland.;Stephe Kamalathasan.;Sushma Datla.;Maria F Paton.;Ruth Burgess.;Michael Drozd.;Thomas A Slater.;Samuel D Relton.;Eylem Levelt.;Klaus K Witte.;Mark T Kearney.;Richard M Cubbon.;John Gierula.
来源: Circ Cardiovasc Imaging. 2025年e018370页
Left ventricular ejection fraction (LVEF) is an essential tool for heart failure (HF) assessment but is limited by load dependence. Additional tools are needed to risk-stratify normal LVEF populations. We aimed to assess the prognostic value of systolic blood pressure-indexed left ventricular end-systolic volume ratio, or cardiac contractility index (CCI).
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