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Imagenetics for Precision Medicine in Dilated Cardiomyopathy Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2024-02-28 Alexios S. Antonopoulos, Anastasia Xintarakou, Alexandros Protonotarios, George Lazaros, Antigoni Miliou, Konstantinos Tsioufis, Charalambos Vlachopoulos
Dilated cardiomyopathy (DCM) is a common heart muscle disorder of nonischemic etiology associated with heart failure development and the risk of malignant ventricular arrhythmias and sudden cardiac death. A tailored approach to risk stratification and prevention of sudden cardiac death is required in genetic DCM given its variable presentation and phenotypic severity. Currently, advances in cardiogenetics
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Multiplexed Functional Assessments of MYH7 Variants in Human Cardiomyocytes Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2024-02-16 Clayton E. Friedman, Shawn Fayer, Sriram Pendyala, Wei-Ming Chien, Alexander Loiben, Linda Tran, Leslie S. Chao, Ashley McKinstry, Dania Ahmed, Stephen D. Farris, April Stempien-Otero, Erica C. Jonlin, Charles E. Murry, Lea M. Starita, Douglas M. Fowler, Kai-Chun Yang
BACKGROUND:Pathogenic autosomal-dominant missense variants in MYH7 (myosin heavy chain 7), which encode the sarcomeric protein (β-MHC [beta myosin heavy chain]) expressed in cardiac and skeletal myocytes, are a leading cause of hypertrophic cardiomyopathy and are clinically actionable. However, ≈75% of MYH7 missense variants are of unknown significance. While human-induced pluripotent stem cells (hiPSCs)
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Epigenetic Contributions to Clinical Risk Prediction of Cardiovascular Disease Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2024-01-30 Aleksandra D. Chybowska, Danni A. Gadd, Yipeng Cheng, Elena Bernabeu, Archie Campbell, Rosie M. Walker, Andrew M. McIntosh, Nicola Wrobel, Lee Murphy, Paul Welsh, Naveed Sattar, Jackie F. Price, Daniel L. McCartney, Kathryn L. Evans, Riccardo E. Marioni
BACKGROUND:Cardiovascular disease (CVD) is among the leading causes of death worldwide. The discovery of new omics biomarkers could help to improve risk stratification algorithms and expand our understanding of molecular pathways contributing to the disease. Here, ASSIGN—a cardiovascular risk prediction tool recommended for use in Scotland—was examined in tandem with epigenetic and proteomic features
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Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2024-01-30 Zachery R. Gregorich, Yanghai Zhang, Timothy J. Kamp, Henk L. Granzier, Wei Guo
RBM20 (RNA-binding motif protein 20) is a vertebrate- and muscle-specific RNA-binding protein that belongs to the serine-arginine-rich family of splicing factors. The RBM20 gene was first identified as a dilated cardiomyopathy–linked gene over a decade ago. Early studies in Rbm20 knockout rodents implicated disrupted splicing of RBM20 target genes as a causative mechanism. Clinical studies show that
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NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-12-07 Alexis Hermida, Flavie Ader, Gilles Millat, Guillaume Jedraszak, Phillipe Maury, Romain Cador, Pierre-Antoine Catalan, Gaël Clerici, Nicolas Combes, Pascal De Groote, Delphine Dupin-Deguine, Romain Eschalier, Laurence Faivre, Patricia Garcia, Benoit Guillon, Alexandre Janin, Beatrice Kugener, Marylin Lackmy, Mikael Laredo, Xavier Le Guillou, François Lesaffre, Hugues Lucron, Antoine Milhem, Gwenaël
BACKGROUND:Few clinical data are available on NEXN mutation carriers, and the gene’s involvement in cardiomyopathies or sudden death has not been fully established. Our objectives were to assess the prevalence of putative pathogenic variants in NEXN and to describe the phenotype and prognosis of patients carrying the variants.METHODS:DNA samples from consecutive patients with cardiomyopathy or sudden
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Plasma Protein Profiling of Incident Cardiovascular Diseases: A Multisample Evaluation. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-11-28 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
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Characterizing Decision-Making Surrounding Exercise in ARVC: Analysis of Decisional Conflict, Decisional Regret, and Shared Decision-Making. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-11-28 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
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Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-11-28 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
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
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Hypertrophic Cardiomyopathy Secondary to RAF1 Cysteine-Rich Domain Variants. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-10-31 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
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Compound Heterozygous Truncating Variants in the BAG5 Gene As a Cause of Early-Onset Dilated Cardiomyopathy. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-10-24 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
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New Genetic Variant in the MYH7 Gene Associated With Hypoplastic Right Heart Syndrome and Hypertrophic Cardiomyopathy in the Same Family. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-10-11 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
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Cardiovascular Disease Knowledge Portal: A Community Resource for Cardiovascular Disease Research. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-10-10 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
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Sex Differences in the Association of Genome-Wide Systolic Blood Pressure Polygenic Risk Score With Hypertension. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-10-09 Naman S Shetty,Akhil Pampana,Nirav Patel,Peng Li,Krishin Yerabolu,Mokshad Gaonkar,Garima Arora,Pankaj Arora
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Potential Diagnostic Role for a Combined Postmortem DNA and RNA Sequencing for Brugada Syndrome. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-10-05 Carlos Bueno-Beti,David C Johnson,Chris Miles,Joseph Westaby,Mary N Sheppard,Elijah R Behr,Angeliki Asimaki
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Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-09-28 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
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Contribution of Lipoprotein(a) to Polygenic Risk Prediction of Coronary Artery Disease: A Prospective UK Biobank Analysis. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-09-27 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
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Novel Insights Into DMD-Associated Dilated Cardiomyopathy. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-09-27 Teresa Wang,Jessica Chowns,Sharlene M Day
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Combining Polygenic and Proteomic Risk Scores With Clinical Risk Factors to Improve Performance for Diagnosing Absence of Coronary Artery Disease in Patients With de novo Chest Pain. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-09-27 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
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Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-09-07 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
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Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic ALPK3-Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-09-06 Laura A Grutters,Jolien S Klein Wassink-Ruiter,Trijnie Dijkhuizen,Hessel P Nijenhuis,Jan D H Jongbloed,Johanna C Herkert
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DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-09-06 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
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Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-08-18 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 Peñalver,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
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
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Cardiomyopathy in Asian Cohorts: Genetic and Epigenetic Insights. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-08-17 Konstanze Tan,Roger Foo,Marie Loh
Previous studies on cardiomyopathies have been particularly valuable for clarifying pathological mechanisms in heart failure, an etiologically heterogeneous disease. In this review, we specifically focus on cardiomyopathies in Asia, where heart failure is particularly pertinent. There has been an increase in prevalence of cardiomyopathies in Asia, in sharp contrast with the decline observed in Western
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Cardiovascular Efficacy of Lipid-Lowering Drug Targets Is Not Entirely Explained by Apolipoprotein B Reduction: Mendelian Randomization Evidence. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-08-14 Dipender Gill,Benjamin Woolf,Loukas Zagkos,Héléne T Cronjé,Ioanna Tzoulaki
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Phenotype of ASDs Associated With 4p16 Risk Locus and Novel Genome-Wide Associations of ASD Patients in the Finnish Population. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-08-14 Valtteri Muroke,Mikko Jalanko,Sanni Ruotsalainen,Markus Perola,Emmi Helle,Juha Sinisalo
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In Memoriam: Prof. Dr. Jeanette Erdmann (1965-2023). Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-07-26 Heribert Schunkert,Zouhair Aherrahrou
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Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-07-07 Thomas Hays,Rebecca Hernan,Michele Disco,Emily L Griffin,Nimrod Goldshtrom,Diana Vargas,Ganga Krishnamurthy,Miles Bomback,Atteeq U Rehman,Amanda T Wilson,Saurav Guha,Shruti Phadke,Volkan Okur,Dino Robinson,Vanessa Felice,Avinash Abhyankar,Vaidehi Jobanputra,Wendy K Chung
BACKGROUND Rapid genome sequencing (rGS) has been shown to improve care of critically ill infants. Congenital heart disease (CHD) is a leading cause of infant mortality and is often caused by genetic disorders, yet the utility of rGS has not been prospectively studied in this population. METHODS We conducted a prospective evaluation of rGS to improve the care of infants with complex CHD in our cardiac
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DiscoVari: A Web-Based Precision Medicine Tool for Predicting Variant Pathogenicity in Cardiomyopathy- and Channelopathy-Associated Genes. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-07-06 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
BACKGROUND 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
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Contemporary Polygenic Scores of Low-Density Lipoprotein Cholesterol and Coronary Artery Disease Predict Coronary Atherosclerosis in Adolescents and Young Adults. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-07-06 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
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Long-Term Prevalence of Systolic Dysfunction in MYBPC3 Versus MYH7-Related Hypertrophic Cardiomyopathy. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-07-06 Matteo Beltrami,Elisa Fedele,Carlo Fumagalli,Francesco Mazzarotto,Francesca Girolami,Cecilia Ferrantini,Raffaele Coppini,Lorenzo Tofani,Bruno Bertaccini,Corrado Poggesi,Iacopo Olivotto
BACKGROUND 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
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PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-07-03 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
BACKGROUND 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. METHODS This retrospective cohort included subjects with 1p36 deletion
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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. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-06-30 Gabrielle Norrish,Vidthya Kadirrajah,Ella Field,Kathleen Dady,Jennifer Tollit,Karen McLeod,Ruth McGowan,Elena Cervi,Juan Pablo Kaski
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Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-06-28 Hidekazu Ishida,Jun Narita,Ryo Ishii,Hidehiro Suginobe,Hirofumi Tsuru,Renjie Wang,Chika Yoshihara,Atsuko Ueyama,Kazutoshi Ueda,Masaki Hirose,Kazuhisa Hashimoto,Hiroki Nagano,Shigetoyo Kogaki,Yuki Kuramoto,Yohei Miyashita,Yoshihiro Asano,Keiichi Ozono
BACKGROUND Restrictive cardiomyopathy in children is rare and outcomes are very poor. However, little information is available concerning genotype-outcome correlations. METHODS We analyzed the clinical characteristics and genetic testing, including whole exome sequencing, of 28 pediatric restrictive cardiomyopathy patients who were diagnosed from 1998 to 2021 at Osaka University Hospital in Japan.
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Lessons From a Genotype-Phenotype Study About the Clinical Spectrum of Hypertrophic Cardiomyopathy Associated With Noonan Syndrome With Multiple Lentigines and PTPN11-Mutations. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-06-16 Ingegerd Östman-Smith
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Novel Insights Into the Prevalence of TNNI3K-Mediated Dilated Cardiomyopathy and Putative Disease Mechanisms. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-06-16 Marina Rieder,Christiane Zweier,Katja E Odening
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Cardioinformatics Advancements in Healthcare and Biotechnology. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-06-15 Bohdan B Khomtchouk
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Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-05-18 Emanuele Monda,Aaron Prosnitz,Rossella Aiello,Michele Lioncino,Gabrielle Norrish,Martina Caiazza,Fabrizio Drago,Meaghan Beattie,Marco Tartaglia,Maria Giovanna Russo,Steven D Colan,Giulio Calcagni,Bruce D Gelb,Juan Pablo Kaski,Amy E Roberts,Giuseppe Limongelli
BACKGROUND We aimed to examine clinical features and outcomes of consecutive molecularly characterized patients with Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy. METHODS A retrospective, longitudinal multicenter cohort of consecutive children and adults with a genetic diagnosis of Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy between 2002 and
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Genetic Burden of TNNI3K in Diagnostic Testing of Patients With Dilated Cardiomyopathy and Supraventricular Arrhythmias. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-05-18 Caroline Pham,Karolina Andrzejczyk,Sean J Jurgens,Ronald Lekanne Deprez,Kaylin C A Palm,Alexa M C Vermeer,Janneke Nijman,Imke Christiaans,Daniela Q C M Barge-Schaapveld,Pascal F H M van Dessel,Leander Beekman,Seung Hoan Choi,Steven A Lubitz,Doris Skoric-Milosavljevic,Lisa van den Bersselaar,Philip R Jansen,Jaël S Copier,Patrick T Ellinor,Arthur A M Wilde,Connie R Bezzina,Elisabeth M Lodder
BACKGROUND Genetic variants in TNNI3K (troponin-I interacting kinase) have previously been associated with dilated cardiomyopathy (DCM), cardiac conduction disease, and supraventricular tachycardias. However, the link between TNNI3K variants and these cardiac phenotypes shows a lack of consensus concerning phenotype and protein function. METHODS We describe a systematic retrospective study of a cohort
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Combined Clinical, Molecular, and Muscle Biopsy Approach to Unveil Prevalence and Clinical Features of Rare Neuromuscular and Mitochondrial Diseases in Patients With Cardiomyopathies. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-05-17 Michele Lioncino,Emanuele Monda,Martina Caiazza,Vincenzo Simonelli,Claudia Nesti,Alfredo Mauriello,Alberta Budillon,Alessandro Di Santo,Giorgia Bruno,Antonio Varone,Vincenzo Nigro,Filippo Maria Santorelli,Giuseppe Pacileo,Maria Giovanna Russo,Giulia Frisso,Simone Sampaolo,Giuseppe Limongelli
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Prevalence of Pathogenic Variants in Dilated Cardiomyopathy-Associated Genes in Patients Evaluated for Cardiac Sarcoidosis. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-05-17 Nosheen Reza,Michael G Levin,Mahesh K Vidula,Paco E Bravo,Scott M Damrauer,Marylyn D Ritchie,,C Anwar A Chahal,Anjali Tiku Owens
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Noncanonical Splice-Altering Variants: Hidden Culprits of Congenital Heart Disease. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-05-17 Gillian M Blue,Seema Mital
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Causal Relationship Between Average Alcohol Consumption and Risk of Atrial Fibrillation: A Mendelian Randomization Study. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-05-16 Andrea Georgiou,Georgios Georgiopoulos,Dimitrios Delialis,Eleni Maneta,Pier Giorgio Masci,Onisiphoros Neophytou,Dimitrios Tsiachris,Evangelos Evangelou
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Evaluating the Contribution of Cell Type-Specific Alternative Splicing to Variation in Lipid Levels. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-05-11 Katerina A B Gawronski,William P Bone,YoSon Park,Evanthia E Pashos,Brandon M Wenz,Max F Dudek,Xiao Wang,Wenli Yang,Daniel J Rader,Kiran Musunuru,Benjamin F Voight,Christopher D Brown
BACKGROUND Genome-wide association studies have identified hundreds of loci associated with lipid levels. However, the genetic mechanisms underlying most of these loci are not well-understood. Recent work indicates that changes in the abundance of alternatively spliced transcripts contribute to complex trait variation. Consequently, identifying genetic loci that associate with alternative splicing
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Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-05-11 Min Young Jang,Parth N Patel,Alexandre C Pereira,Jon A L Willcox,Alireza Haghighi,Angela C Tai,Kaoru Ito,Sarah U Morton,Joshua M Gorham,David M McKean,Steven R DePalma,Daniel Bernstein,Martina Brueckner,Wendy K Chung,Alessandro Giardini,Elizabeth Goldmuntz,Jonathan R Kaltman,Richard Kim,Jane W Newburger,Yufeng Shen,Deepak Srivastava,Martin Tristani-Firouzi,Bruce D Gelb,George A Porter,Christine E Seidman
BACKGROUND Known genetic causes of congenital heart disease (CHD) explain <40% of CHD cases, and interpreting the clinical significance of variants with uncertain functional impact remains challenging. We aim to improve diagnostic classification of variants in patients with CHD by assessing the impact of noncanonical splice region variants on RNA splicing. METHODS We tested de novo variants from trio
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Enhancing the Detection and Care of Heterozygous Familial Hypercholesterolemia in Primary Care: Cost-Effectiveness and Return on Investment. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-04-12 Clara Marquina,Jedidiah Morton,Tom Brett,Melanie Lloyd,Jan Radford,Clare Heal,Charlotte Hespe,Gerard Gill,David Sullivan,Ella Zomer,Ian Li,Jing Pang,Gerald F Watts,Zanfina Ademi
BACKGROUND Heterozygous familial hypercholesterolemia (HeFH) is under-detected and undertreated. A general practitioner-led screening and care program for HeFH effectively identified and managed patients with HeFH. We evaluated the cost-effectiveness and the return on investment of an enhanced-care strategy for HeFH in primary care in Australia. METHODS We developed a multistate Markov model to estimate
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Accelerated Epigenetic Aging Is Associated With Multiple Cardiometabolic, Hematologic, and Renal Abnormalities: A Project Baseline Health Substudy. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-04-11 Best Uchehara,Lydia Coulter Kwee,Jessica Regan,Ranee Chatterjee,Julie Eckstrand,Sue Swope,Gary Gold,Terry Schaack,Pamela Douglas,Prithu Mettu,Francois Haddad,Scarlet Shore,Adrian Hernandez,Kenneth W Mahaffey,Neha Pagidipati,Svati H Shah,
BACKGROUND Epigenetic clocks estimate chronologic age using methylation levels at specific loci. We tested the hypothesis that accelerated epigenetic aging is associated with abnormal values in a range of clinical, imaging, and laboratory characteristics. METHODS The Project Baseline Health Study recruited 2502 participants, including 1661 with epigenetic age estimates from the Horvath pan-tissue clock
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Current State and Future of Polygenic Risk Scores in Cardiometabolic Disease: A Scoping Review. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-04-10 Jobanjit S Phulka,Mishal Ashraf,Beenu K Bajwa,Guillaume Pare,Zachary Laksman
A polygenic risk score (PRS) is derived from a genome-wide association study and represents an aggregate of thousands of single-nucleotide polymorphisms that provide a baseline estimate of an individual's genetic risk for a specific disease or trait at birth. However, it remains unclear how PRSs can be used in clinical practice. We provide an overview of the PRSs related to cardiometabolic disease
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Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-04-07 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
BACKGROUND 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. METHODS We performed reimputation of 4 CHD cohorts (n=55 342) to the TOPMed reference panel (freeze 5), permitting meta-analysis of 14 784 017 variants including 6 035 962 rare variants of high imputation quality as validated by whole
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Cross-Sectional Gene-Smoking Interaction Analysis in Relation to Subclinical Atherosclerosis-Results From the IMPROVE Study. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-04-06 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,
BACKGROUND 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
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Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-04-05 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
BACKGROUND 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
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National Human Genome Research Institute Genomic Data Science Analysis, Visualization, and Informatics Lab-Space: Reaching out to Clinicians. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-04-04 Jennifer L Hall,Sally Honeycutt,Nicole Gonzalez,Anne O'Donnell-Luria,Casey Overby Taylor,Laura Stevens,Anthony A Philippakis,Michael C Schatz
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Biallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-04-04 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
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Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-04-03 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
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Genetic Testing in Patients With Congenital Heart Disease: You Do No Harm When Using the Right Tools! Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-03-29 Julie De Backer,Laura Muiño Mosquera
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Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-03-27 Sophie L V M Stroeks,Ida G Lunde,Debby M E I Hellebrekers,Godelieve R F Claes,Hiroko Wakimoto,Joshua Gorham,Ingrid P C Krapels,Els K Vanhoutte,Arthur van den Wijngaard,Michiel T H M Henkens,Anne G Raafs,Maurits A Sikking,Jos L V Broers,Miranda Nabben,Elizabeth A V Jones,Stephane R B Heymans,Han G Brunner,Job A J Verdonschot
BACKGROUND Dilated cardiomyopathy (DCM) was considered a monogenetic disease that can be caused by over 60 genes. Evidence suggests that the combination of multiple pathogenic variants leads to greater disease severity and earlier onset. So far, not much is known about the prevalence and disease course of multiple pathogenic variants in patients with DCM. To gain insight into these knowledge gaps,
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Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-03-27 Andrew P Landstrom,Anwar A Chahal,Michael J Ackerman,Sharon Cresci,Dianna M Milewicz,Alanna A Morris,Georgia Sarquella-Brugada,Christopher Semsarian,Svati H Shah,Amy C Sturm,
Rapid advances in genetic technologies have led to expanding use of diagnostic, research, and direct-to-consumer exome and genome sequencing. Incidentally identified variants from this sequencing represent a significant and growing challenge to interpret and translate into clinical care and include variants in genes associated with heritable cardiovascular disease such as cardiac ion channelopathies
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Description of a Novel Cardiac Phenotype Associated With a Missense Variant in the Cardiac α-Actin (ACTC1) Gene. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-03-24 Francisco Javier Toledano-Delgado,Isabel Jimenez-Alcantara,Jesus Cobo-Molinos,Francisco Carrasco-Avalos,Francisco Mazuelos,Jose Angel Urbano-Moral
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Genetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-03-24 Ahsen Chaudhry,Mark Trinder,Kristin Vesely,Lubomira Cermakova,Linda Jackson,Jian Wang,Robert A Hegele,Liam R Brunham
BACKGROUND Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extremely elevated plasma low-density lipoprotein cholesterol and accelerated atherosclerosis. Accurate identification of patients with HoFH is essential as they may be eligible for specialized treatments. We hypothesized that a subset of patients with clinically diagnosed heterozygous FH (HeFH) may
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Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine Program. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-03-24 Amanda A Seyerle,Cecelia A Laurie,Brandon J Coombes,Deepti Jain,Matthew P Conomos,Jennifer Brody,Ming-Huei Chen,Stephanie M Gogarten,Kathleen M Beutel,Namrata Gupta,Susan R Heckbert,Rebecca D Jackson,Andrew D Johnson,Darae Ko,JoAnn E Manson,Barbara McKnight,Ginger A Metcalf,Alanna C Morrison,Alexander P Reiner,Tamar Sofer,Weihong Tang,Kerri L Wiggins,,Eric Boerwinkle,Mariza de Andrade,Stacey B Gabriel
BACKGROUND Risk for venous thromboembolism has a strong genetic component. Whole genome sequencing from the TOPMed program (Trans-Omics for Precision Medicine) allowed us to look for new associations, particularly rare variants missed by standard genome-wide association studies. METHODS The 3793 cases and 7834 controls (11.6% of cases were individuals of African, Hispanic/Latino, or Asian ancestry)
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Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease. Circ. Genom. Precis. Med. (IF 7.4) Pub Date : 2023-03-03 Matthew J Lewis,Alexander Hsieh,Lu Qiao,Renjie Tan,Brigitte Kazzi,Alexandra Channing,Emily L Griffin,Vaidehi Jobanputra,Jennifer Su,Chowdhury Shahryar,Lazaros Kochilas,J William Gaynor,Teresa Lee,Elizabeth Goldmuntz,Mark Russell,Seema Mital,Martin Tristani,Martina Brueckner,Jane Newburger,Yufeng Shen,Wendy K Chung