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JOURNAL ARTICLE
Dominic E Fullenkamp, Ryan M Jorgensen, Desiree F Leach, Arjun Sinha, Isabella M Salamone, Jamie R Johnston, Lisa M Dellefave-Castillo, Lubna Choudhury, Elizabeth M McNally, Lisa D Wilsbacher
No abstract text is available yet for this article.
December 2023: Circulation. Genomic and Precision Medicine
#42
JOURNAL ARTICLE
Kui Deng, Deepak K Gupta, Xiao-Ou Shu, Loren Lipworth, Wei Zheng, Victoria E Thomas, Hui Cai, Qiuyin Cai, Thomas J Wang, Danxia Yu
BACKGROUND: Life's essential 8 (LE8) is a comprehensive construct of cardiovascular health. Yet, little is known about the LE8 score, its metabolic correlates, and its predictive implications among Black Americans and low-income individuals. METHODS: In a nested case-control study of coronary heart disease (CHD) among 299 pairs of Black and 298 pairs of White low-income Americans from the Southern Community Cohort Study, we estimated LE8 score and applied untargeted plasma metabolomics and elastic net with leave-one-out cross-validation to identify metabolite signature (MetaSig) of LE8...
November 28, 2023: Circulation. Genomic and Precision Medicine
#43
JOURNAL ARTICLE
Jessica Sweeney, Crystal Tichnell, Susan Christian, Catherine Pendelton, Brittney Murray, Debra L Roter, Leila Jamal, Hugh Calkins, Cynthia A James
BACKGROUND: Limiting high-intensity exercise is recommended for patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) due to its association with penetrance, arrhythmias, and structural progression. Guidelines recommend shared decision-making (SDM) for exercise level, but there is little evidence regarding its impact. Therefore, we sought to evaluate the extent and implications of SDM for exercise, decisional conflict scale (DCS), and decisional regret (DRS) in patients with ARVC and at-risk relatives...
November 28, 2023: Circulation. Genomic and Precision Medicine
#44
JOURNAL ARTICLE
Lars Lind, Olga Titova, Rui Zeng, Daniela Zanetti, Martin Ingelsson, Stefan Gustafsson, Johan Sundström, Johan Ärnlöv, Sölve Elmståhl, Tim Assimes, Karl Michaëlsson
BACKGROUND: Proteomic profiling could potentially disclose new pathophysiological pathways for cardiovascular diseases (CVD) and improve prediction at the individual level. We therefore aimed to study the plasma protein profile associated with the incidence of different CVDs. METHODS: Plasma levels of 245 proteins suspected to be linked to CVD or metabolism were measured in 4 Swedish prospective population-based cohorts (SIMPLER [Swedish Infrastructure for Medical Population-Based Life-Course and Environmental Research], ULSAM (Uppsala Longitudinal Study of Adult Men), EpiHealth, and POEM [Prospective Investigation of Obesity, Energy Production, and Metabolism]) comprising 11 869 individuals, free of CVD diagnoses at baseline...
November 28, 2023: Circulation. Genomic and Precision Medicine
#45
JOURNAL ARTICLE
Lara Curran, Antonio de Marvao, Paolo Inglese, Kathryn A McGurk, Pierre-Raphaël Schiratti, Adam Clement, Sean L Zheng, Surui Li, Chee Jian Pua, Mit Shah, Mina Jafari, Pantazis Theotokis, Rachel J Buchan, Sean J Jurgens, Claire E Raphael, Arun John Baksi, Antonis Pantazis, Brian P Halliday, Dudley J Pennell, Wenjia Bai, Calvin W L Chin, Rafik Tadros, Connie R Bezzina, Hugh Watkins, Stuart A Cook, Sanjay K Prasad, James S Ware, Declan P O'Regan
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is an important cause of sudden cardiac death associated with heterogeneous phenotypes, but there is no systematic framework for classifying morphology or assessing associated risks. Here, we quantitatively survey genotype-phenotype associations in HCM to derive a data-driven taxonomy of disease expression. METHODS: We enrolled 436 patients with HCM (median age, 60 years; 28.8% women) with clinical, genetic, and imaging data...
November 28, 2023: Circulation. Genomic and Precision Medicine
#46
JOURNAL ARTICLE
Natalie R Hasbani, Kenneth E Westerman, Soo Heon Kwak, Han Chen, Xihao Li, Daniel Dicorpo, Jennifer Wessel, Joshua C Bis, Chloè Sarnowski, Peitao Wu, Lawrence F Bielak, Xiuqing Guo, Nancy Heard-Costa, Gregory Kinney, Michael C Mahaney, May E Montasser, Nicholette D Palmer, Laura M Raffield, James G Terry, Lisa R Yanek, Jessica Bon, Donald W Bowden, Jennifer A Brody, Ravindranath Duggirala, David R Jacobs, Rita R Kalyani, Leslie A Lange, Braxton D Mitchell, Jennifer A Smith, Kent D Taylor, April Carson, Joanne E Curran, Myriam Fornage, Barry I Freedman, Stacey Gabriel, Richard A Gibbs, Namrata Gupta, Sharon L R Kardia, Brian G Kral, Zeineen Momin, Anne B Newman, Wendy S Post, Karine A Viaud-Martinez, Kendra A Young, Lewis C Becker, Alain Bertoni, John Blangero, John J Carr, Katherine Pratte, Bruce M Psaty, Stephen S Rich, Joseph C Wu, Rajeev Malhotra, Patricia A Peyser, Alanna C Morrison, Ramachandran S Vasan, Xihong Lin, Jerome I Rotter, James B Meigs, Alisa K Manning, Paul S de Vries
BACKGROUND: Individuals with type 2 diabetes (T2D) have an increased risk of coronary artery disease (CAD), but questions remain about the underlying pathology. Identifying which CAD loci are modified by T2D in the development of subclinical atherosclerosis (coronary artery calcification [CAC], carotid intima-media thickness, or carotid plaque) may improve our understanding of the mechanisms leading to the increased CAD in T2D. METHODS: We compared the common and rare variant associations of known CAD loci from the literature on CAC, carotid intima-media thickness, and carotid plaque in up to 29 670 participants, including up to 24 157 normoglycemic controls and 5513 T2D cases leveraging whole-genome sequencing data from the Trans-Omics for Precision Medicine program...
November 28, 2023: Circulation. Genomic and Precision Medicine
#47
LETTER
Shunsuke Inoue, Toshiyuki Ko, Seitaro Nomura, Takanobu Yamada, Bo Zhang, Zhehao Dai, Takahiro Jimba, Manami Kato, Junichi Ishida, Eisuke Amiya, Masaru Hatano, Norifumi Takeda, Hiroyuki Morita, Minoru Ono, Issei Komuro
No abstract text is available yet for this article.
October 24, 2023: Circulation. Genomic and Precision Medicine
#48
JOURNAL ARTICLE
Elizaveta Polyakova, Janine M van Gils, Lauran Stöger, Philippine Kiès, Anastasia D Egorova, Tamara T Koopmann, Tessa van Dijk, Marco C DeRuiter, Daniela Q C M Barge-Schaapveld, Monique R M Jongbloed
No abstract text is available yet for this article.
October 11, 2023: Circulation. Genomic and Precision Medicine
#49
JOURNAL ARTICLE
Maria C Costanzo, Carolina Roselli, MacKenzie Brandes, Marc Duby, Quy Hoang, Dongkeun Jang, Ryan Koesterer, Parul Kudtarkar, Annie Moriondo, Trang Nguyen, Oliver Ruebenacker, Patrick Smadbeck, Ying Sun, Adam S Butterworth, Krishna G Aragam, R Thomas Lumbers, Amit V Khera, Steven A Lubitz, Patrick T Ellinor, Kyle J Gaulton, Jason Flannick, Noël P Burtt
No abstract text is available yet for this article.
October 10, 2023: Circulation. Genomic and Precision Medicine
#50
JOURNAL ARTICLE
Naman S Shetty, Akhil Pampana, Nirav Patel, Peng Li, Krishin Yerabolu, Mokshad Gaonkar, Garima Arora, Pankaj Arora
No abstract text is available yet for this article.
October 9, 2023: Circulation. Genomic and Precision Medicine
#51
JOURNAL ARTICLE
Carlos Bueno-Beti, David C Johnson, Chris Miles, Joseph Westaby, Mary N Sheppard, Elijah R Behr, Angeliki Asimaki
No abstract text is available yet for this article.
October 5, 2023: Circulation. Genomic and Precision Medicine
#52
JOURNAL ARTICLE
Hasanga D Manikpurage, Audrey Paulin, Arnaud Girard, Aida Eslami, Patrick Mathieu, Sébastien Thériault, Benoit J Arsenault
BACKGROUND: Lp(a) (lipoprotein[a]) is a highly atherogenic lipoprotein subfraction that may contribute to polygenic risk of coronary artery disease (CAD), but the extent of this contribution is unknown. Our objective was to estimate the contribution of Lp(a) to polygenic risk of CAD and to evaluate the respective contributions of Lp(a) and a CAD polygenic risk score (PRS) to CAD. METHODS: A total of 372 385 UK Biobank participants of European ancestry free of CAD at baseline were included...
October 2023: Circulation. Genomic and Precision Medicine
#53
MULTICENTER STUDY
Peter Loof Møller, Palle Duun Rohde, Jonathan Nørtoft Dahl, Laust Dupont Rasmussen, Samuel Emil Schmidt, Louise Nissen, Victoria McGilligan, Jacob F Bentzon, Daniel F Gudbjartsson, Kari Stefansson, Hilma Holm, Simon Winther, Morten Bøttcher, Mette Nyegaard
BACKGROUND: Patients with de novo chest pain, referred for evaluation of possible coronary artery disease (CAD), frequently have an absence of CAD resulting in millions of tests not having any clinical impact. The objective of this study was to investigate whether polygenic risk scores and targeted proteomics improve the prediction of absence of CAD in patients with suspected CAD, when added to the PROMISE (Prospective Multicenter Imaging Study for Evaluation of Chest Pain) minimal risk score (PMRS)...
October 2023: Circulation. Genomic and Precision Medicine
#54
JOURNAL ARTICLE
Renee Johnson, Robyn Otway, Ephrem Chin, Claire Horvat, Monique Ohanian, Jon A L Wilcox, Zheng Su, Priscilla Prestes, Andrei Smolnikov, Magdalena Soka, Guanglan Guo, Emma Rath, Samya Chakravorty, Lukasz Chrzanowski, Christopher S Hayward, Anne M Keogh, Peter S Macdonald, Eleni Giannoulatou, Alex C Y Chang, Emily C Oates, Fadi Charchar, Jonathan G Seidman, Christine E Seidman, Madhuri Hegde, Diane Fatkin
BACKGROUND: Variants in the DMD gene, that encodes the cytoskeletal protein, dystrophin, cause a severe form of dilated cardiomyopathy (DCM) associated with high rates of heart failure, heart transplantation, and ventricular arrhythmias. Improved early detection of individuals at risk is needed. METHODS: Genetic testing of 40 male probands with a potential X-linked genetic cause of primary DCM was undertaken using multi-gene panel sequencing, multiplex polymerase chain reaction, and array comparative genomic hybridization...
October 2023: Circulation. Genomic and Precision Medicine
#55
JOURNAL ARTICLE
Dipender Gill, Benjamin Woolf, Loukas Zagkos, Héléne T Cronjé, Ioanna Tzoulaki
No abstract text is available yet for this article.
October 2023: Circulation. Genomic and Precision Medicine
#56
JOURNAL ARTICLE
Yuri Kim, Oddný Brattberg Gunnarsdóttir, Anissa Viveiros, Daniel Reichart, Daniel Quiat, Jon A L Willcox, Hao Zhang, Huachen Chen, Justin J Curran, Daniel H Kim, Simon Urschel, Barbara McDonough, Joshua Gorham, Steven R DePalma, Jonathan G Seidman, Christine E Seidman, Gavin Y Oudit
BACKGROUND: Many cardiovascular disorders propel the development of advanced heart failure that necessitates cardiac transplantation. When treatable causes are excluded, studies to define causes are often abandoned, resulting in a diagnosis of end-stage idiopathic cardiomyopathy. We studied whether DNA sequence analyses could identify unrecognized causes of end-stage nonischemic cardiomyopathy requiring heart transplantation and whether the prevalence of genetic causes differed from ambulatory cardiomyopathy cases...
September 28, 2023: Circulation. Genomic and Precision Medicine
#57
EDITORIAL
Teresa Wang, Jessica Chowns, Sharlene Day
No abstract text is available yet for this article.
September 27, 2023: Circulation. Genomic and Precision Medicine
#58
JOURNAL ARTICLE
Shirin Ibrahim, Jeroen van Rooij, Annemieke J M H Verkerk, Jard de Vries, Linda Zuurbier, Joep Defesche, Jorge Peter, Willemijn A M Schonck, Bahar Sedaghati-Khayat, G Kees Hovingh, André G Uitterlinden, Erik S G Stroes, Laurens F Reeskamp
BACKGROUND: Familial hypercholesterolemia (FH) is a common but underdiagnosed genetic disorder characterized by high low-density lipoprotein cholesterol levels and premature cardiovascular disease. Current sequencing methods to diagnose FH are expensive and time-consuming. In this study, we evaluated the accuracy of a low-cost, high-throughput genotyping array for diagnosing FH. METHODS: An Illumina Global Screening Array was customized to include probes for 636 variants, previously classified as FH-causing variants...
September 7, 2023: Circulation. Genomic and Precision Medicine
#59
LETTER
Laura A Grutters, Jolien S Klein Wassink-Ruiter, Trijnie Dijkhuizen, Hessel P Nijenhuis, Jan D H Jongbloed, Johanna C Herkert
No abstract text is available yet for this article.
September 6, 2023: Circulation. Genomic and Precision Medicine
#60
JOURNAL ARTICLE
Douglas E Cannie, Alexandros Protonotarios, Athanasios Bakalakos, Petros Syrris, Massimiliano Lorenzini, Bianca De Stavola, Louise Bjerregaard, Anne M Dybro, Thomas M Hey, Frederikke G Hansen, Marina Navarro Penalver, Maria G Crespo-Leiro, Jose M Larrañaga-Moreira, Fernando de Frutos, Renee Johnson, Thomas A Slater, Lorenzo Monserrat, Anshuman Sengupta, Luisa Mestroni, Matthew R G Taylor, Gianfranco Sinagra, Zofia Bilinska, Itziar Solla-Ruiz, Xabier Arana Achaga, Roberto Barriales-Villa, Pablo Garcia-Pavia, Juan R Gimeno, Matteo Dal Ferro, Marco Merlo, Karim Wahbi, Diane Fatkin, Jens Mogensen, Torsten B Rasmussen, Perry M Elliott
BACKGROUND: Variants in RBM20 are reported in 2% to 6% of familial cases of dilated cardiomyopathy and may be associated with fatal ventricular arrhythmia and rapid heart failure progression. We sought to determine the risk of adverse events in RBM20 variant carriers and the impact of sex on outcomes. METHODS: Consecutive probands and relatives carrying RBM20 variants were retrospectively recruited from 12 cardiomyopathy units. The primary end point was a composite of malignant ventricular arrhythmia (MVA) and end-stage heart failure (ESHF)...
August 18, 2023: Circulation. Genomic and Precision Medicine
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