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3921. DiscoVari: A Web-Based Precision Medicine Tool for Predicting Variant Pathogenicity in Cardiomyopathy- and Channelopathy-Associated Genes.
作者: Leonie M Kurzlechner.;Sujata Kishnani.;Shawon Chowdhury.;Sage L Atkins.;Mary E Moya-Mendez.;Lauren E Parker.;Michael B Rosamilia.;Hanna J Tadros.;Leslie A Pace.;Viraj Patel.;C Anwar A Chahal.;Andrew P Landstrom.
来源: Circ Genom Precis Med. 2023年16卷4期317-327页
With genetic testing advancements, the burden of incidentally identified cardiac disease-associated gene variants is rising. These variants may carry a risk of sudden cardiac death, highlighting the need for accurate diagnostic interpretation. We sought to identify pathogenic hotspots in sudden cardiac death-associated genes using amino acid-level signal-to-noise (S:N) analysis and develop a web-based precision medicine tool, DiscoVari, to improve variant evaluation.
3922. Contemporary Polygenic Scores of Low-Density Lipoprotein Cholesterol and Coronary Artery Disease Predict Coronary Atherosclerosis in Adolescents and Young Adults.
作者: Rodrigo Guarischi-Sousa.;Elias Salfati.;Pik Fang Kho.;Kruthika R Iyer.;Austin T Hilliard.;David M Herrington.;Philip S Tsao.;Shoa L Clarke.;Themistocles L Assimes.
来源: Circ Genom Precis Med. 2023年16卷5期480-482页 3923. Long-Term Prevalence of Systolic Dysfunction in MYBPC3 Versus MYH7-Related Hypertrophic Cardiomyopathy.
作者: Matteo Beltrami.;Elisa Fedele.;Carlo Fumagalli.;Francesco Mazzarotto.;Francesca Girolami.;Cecilia Ferrantini.;Raffaele Coppini.;Lorenzo Tofani.;Bruno Bertaccini.;Corrado Poggesi.;Iacopo Olivotto.
来源: Circ Genom Precis Med. 2023年16卷4期363-371页
The 2 sarcomere genes most commonly associated with hypertrophic cardiomyopathy (HCM), MYBPC3 (myosin-binding protein C3) and MYH7 (β-myosin heavy chain), are indistinguishable at presentation, and genotype-phenotype correlations have been elusive. Based on molecular and pathophysiological differences, however, it is plausible to hypothesize a different behavior in myocardial performance, impacting lifetime changes in left ventricular (LV) function.
3924. Implications of Social Disadvantage Score in Cardiovascular Outcomes and Risk Assessment: Findings From the Multi-Ethnic Study of Atherosclerosis.
作者: Aziz Hammoud.;Haiying Chen.;Alexander Ivanov.;Joseph Yeboah.;Khurram Nasir.;Miguel Cainzos-Achirica.;Alain Bertoni.;Safi U Khan.;Michael Blaha.;David Herrington.;Michael D Shapiro.
来源: Circ Cardiovasc Qual Outcomes. 2023年16卷7期e009304页
Social determinants of health contribute to disparate cardiovascular outcomes, yet they have not been operationalized into the current paradigm of cardiovascular risk assessment.
3925. Cardiac Sarcoidosis Mimickers: Genetic Testing in Undifferentiated Inflammatory Cardiomyopathies.
作者: Matteo Castrichini.;Kolade M Agboola.;Hridyanshu Vyas.;Omar F Abou Ezzeddine.;Konstantinos C Siontis.;John R Giudicessi.;Andrew N Rosenbaum.;Naveen L Pereira.
来源: Circ Genom Precis Med. 2023年16卷5期478-479页 3926. Autoimmune Atrial Fibrillation.
作者: Ange Maguy.;Yuvaraj Mahendran.;Jean-Claude Tardif.;David Busseuil.;Jin Li.
来源: Circulation. 2023年148卷6期487-498页
Atrial fibrillation (AF) is by far the most common cardiac arrhythmia. In about 3% of individuals, AF develops as a primary disorder without any identifiable trigger (idiopathic or historically termed lone AF). In line with the emerging field of autoantibody-related cardiac arrhythmias, the objective of this study was to explore whether autoantibodies targeting cardiac ion channels can underlie unexplained AF.
3927. Inhaled Epoprostenol Compared With Nitric Oxide for Right Ventricular Support After Major Cardiac Surgery.
作者: Kamrouz Ghadimi.;Jhaymie L Cappiello.;Mary Cooter Wright.;Jerrold H Levy.;Benjamin S Bryner.;Adam D DeVore.;Jacob N Schroder.;Chetan B Patel.;Sudarshan Rajagopal.;Svati H Shah.;Carmelo A Milano.; .
来源: Circulation. 2023年148卷17期1316-1329页
Right ventricular failure (RVF) is a leading driver of morbidity and death after major cardiac surgery for advanced heart failure, including orthotopic heart transplantation and left ventricular assist device implantation. Inhaled pulmonary-selective vasodilators, such as inhaled epoprostenol (iEPO) and nitric oxide (iNO), are essential therapeutics for the prevention and medical management of postoperative RVF. However, there is limited evidence from clinical trials to guide agent selection despite the significant cost considerations of iNO therapy.
3928. The Effect of Frailty on the Efficacy and Safety of Intensive Blood Pressure Control: A Post Hoc Analysis of the SPRINT Trial.
作者: Zhiyan Wang.;Xin Du.;Chang Hua.;Wenjie Li.;Hao Zhang.;Xinru Liu.;Yufeng Wang.;Chao Jiang.;Jiakun Guo.;Qiang Lv.;Craig S Anderson.;Jianzeng Dong.;Changsheng Ma.
来源: Circulation. 2023年148卷7期565-574页
Frailty is associated with an increased risk of all-cause death and cardiovascular events. However, it is uncertain whether frailty modifies the efficacy and safety of intensive blood pressure control.
3929. Survival From Birth Until Young Adulthood Among Individuals With Congenital Heart Defects: CH STRONG.
作者: Karrie F Downing.;Wendy N Nembhard.;Charles E Rose.;Jennifer G Andrews.;Anthony Goudie.;Scott E Klewer.;Matthew E Oster.;Sherry L Farr.
来源: Circulation. 2023年148卷7期575-588页
Limited population-based information is available on long-term survival of US individuals with congenital heart defects (CHDs). Therefore, we assessed patterns in survival from birth until young adulthood (ie, 35 years of age) and associated factors among a population-based sample of US individuals with CHDs.
3934. Letter by Monda and Limongelli Regarding Article, "The Prevalence and Association of Exercise Test Abnormalities With Sudden Cardiac Death and Transplant-Free Survival in Childhood Hypertrophic Cardiomyopathy".3935. Inducibility of Short-Coupled Purkinje Ectopy by Pharmacological Tests in Patients With Spontaneous Short-Coupled Idiopathic Ventricular Fibrillation.
作者: Michel Haissaguerre.;Josselin Duchateau.;Mikael Laredo.;Thomas Lavergne.;Pierre F Winum.;Ghassen Cheniti.;Xavier Waintraub.;Sophie Samson.;Elodie Surget.;Romain Tixier.;Frederic Sacher.;Eloi Marijon.;Olivier Bernus.;Estelle Gandjbakhch.
来源: Circulation. 2023年148卷1期70-72页 3937. PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study.
作者: Ryan J Kramer.;Amir Nima Fatahian.;Alice Chan.;Jeffery Mortenson.;Jennifer Osher.;Bo Sun.;Lauren E Parker.;Michael B Rosamilia.;Kyra B Potter.;Kaila Moore.;Sage L Atkins.;Jill A Rosenfeld.;Alona Birjiniuk.;Edward Jones.;Taylor S Howard.;Jeffrey J Kim.;Daryl A Scott.;Seema Lalani.;Omid M T Rouzbehani.;Samantha Kaplan.;Marissa A Hathaway.;Jennifer L Cohen.;S Yukiko Asaki.;Hugo R Martinez.;Sihem Boudina.;Andrew P Landstrom.
来源: Circ Genom Precis Med. 2023年16卷4期390-400页
1p36 deletion syndrome can predispose to pediatric-onset cardiomyopathy. Deletion breakpoints are variable and may delete the transcription factor PRDM16. Early studies suggest that deletion of PRDM16 may underlie cardiomyopathy in patients with 1p36 deletion; however, the prognostic impact of PRDM16 loss is unknown.
3938. Distinct Inflammatory Milieu in Patients With Right Heart Failure.
作者: Bin Q Yang.;Arick C Park.;Jason Liu.;Kathleen Byrnes.;Ali Javaheri.;Douglas L Mann.;Joel D Schilling.
来源: Circ Heart Fail. 2023年16卷8期e010478页
Right heart failure (RHF) is associated with worse clinical outcomes. In addition to hemodynamic perturbations, the syndrome of RHF involves liver congestion and dysfunction. The mechanisms that underlie heart-liver interactions are poorly understood and may involve secreted factors. As a first step to understand the cardiohepatic axis, we sought to elucidate the circulating inflammatory milieu in patients with RHF.
3939. Response by Jentzer et al to Letters Regarding Article, "Exposure to Arterial Hyperoxia During Extracorporeal Membrane Oxygenator Support and Mortality in Patients With Cardiogenic Shock".3940. Childhood Hypertrophic Cardiomyopathy Caused by Beta-Myosin Heavy Chain Variants Is Associated With a More Obstructive but Less Arrhythmogenic Phenotype Than Myosin-Binding Protein C Disease.
作者: Gabrielle Norrish.;Vidthya Kadirrajah.;Ella Field.;Kathleen Dady.;Jennifer Tollit.;Karen McLeod.;Ruth McGowan.;Elena Cervi.;Juan Pablo Kaski.
来源: Circ Genom Precis Med. 2023年16卷5期483-485页 |