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Cardiovascular genetic risk testing

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https://www.readbyqxmd.com/read/28721212/recent-advances-in-the-management-of-ventricular-tachyarrhythmias
#1
REVIEW
Syeda Atiqa Batul, Brian Olshansky, John D Fisher, Rakesh Gopinathannair
Ventricular arrhythmias are an important cause of cardiovascular morbidity and mortality, particularly in those with structural heart disease, inherited cardiomyopathies, and channelopathies. The goals of ventricular arrhythmia management include symptom relief, improving quality of life, reducing implantable cardioverter defibrillator shocks, preventing deterioration of left ventricular function, reducing risk of arrhythmic death, and potentially improving overall survival. Guideline-directed medical therapy and implantable cardioverter defibrillator implantation remain the mainstay of therapy to prevent sudden cardiac death in patients with ventricular arrhythmias in the setting of structural heart disease...
2017: F1000Research
https://www.readbyqxmd.com/read/28696268/personalizing-risk-stratification-for-sudden-death-in-dilated-cardiomyopathy-the-past-present-and-future
#2
REVIEW
Brian P Halliday, John G F Cleland, Jeffrey J Goldberger, Sanjay K Prasad
Results from the DANISH Study (Danish Study to Assess the Efficacy of ICDs in Patients With Non-Ischemic Systolic Heat Failure on Mortality) suggest that for many patients with dilated cardiomyopathy (DCM), implantable cardioverter-defibrillators do not increase longevity. Accurate identification of patients who are more likely to die of an arrhythmia and less likely to die of other causes is required to ensure improvement in outcomes and wise use of resources. Until now, left ventricular ejection fraction has been used as a key criterion for selecting patients with DCM for an implantable cardioverter-defibrillator for primary prevention purposes...
July 11, 2017: Circulation
https://www.readbyqxmd.com/read/28687336/polymorphisms-of-cyp2c8-cyp2c9-and-cyp2c19-and-risk-of-coronary-heart-disease-in-russian-population
#3
Alexey Polonikov, Alexander Kharchenko, Marina Bykanova, Svetlana Sirotina, Irina Ponomarenko, Anna Bocharova, Kseniya Vagaytseva, Vadim Stepanov, Olga Bushueva, Mikhail Churnosov, Maria Solodilova
Epoxyeicosatrienoic acids (EETs) are important vasoactive products of arachidonic acid metabolism with a wide range of biological actions in the cardiovascular system. The present study investigated whether single nucleotide polymorphisms (SNP) of genes coding cytochrome P450 2C subfamily, enzymes involved in biosynthesis of EETs, are associated with the risk of coronary heart disease (CHD). A total of 1255 unrelated Russian subjects comprising 561 patients with angiographically diagnosed CHD and 694 age- and sex-matched healthy subjects were included in the study...
July 4, 2017: Gene
https://www.readbyqxmd.com/read/28685506/update-on-modern-management-of-pheochromocytoma-and-paraganglioma
#4
REVIEW
Jacques W M Lenders, Graeme Eisenhofer
Despite all technical progress in modern diagnostic methods and treatment modalities of pheochromocytoma/paraganglioma, early consideration of the presence of these tumors remains the pivotal link towards the best possible outcome for patients. A timely diagnosis and proper treatment can prevent the wide variety of potentially catastrophic cardiovascular complications. Modern biochemical testing should include tests that offer the best available diagnostic performance, measurements of metanephrines and 3-methoxytyramine in plasma or urine...
June 2017: Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28685248/genetic-risk-factors-for-myocardial-infarction-more-clearly-manifest-for-early-age-of-first-onset
#5
Boris V Titov, German J Osmak, Natalia A Matveeva, Nino G Kukava, Roman M Shakhnovich, Alexander V Favorov, Mikhail Ya Ruda, Olga O Favorova
Epidemiological genetics established that heritability in determining the risk of myocardial infarction (MI) is substantially greater when MI occurs early in life. However, the genetic architecture of early-onset and late-onset MI was not compared. We analyzed genotype frequencies of SNPs in/near 20 genes whose protein products are involved in the pathogenesis of atherosclerosis in two groups of Russian patients with MI: the first group included patients with age of first MI onset <60 years (N = 230) and the second group with onset ≥60 years (N = 174)...
July 6, 2017: Molecular Biology Reports
https://www.readbyqxmd.com/read/28661903/p2y12-receptor-inhibitor-resistance-and-coronary-artery-disease-a-bench-to-bedside-primer-for-cardiovascular-specialists
#6
Derek Y F So, Akshay Bagai, Uyen Tran, Subodh Verma, Shamir R Mehta
PURPOSE OF REVIEW: Platelet P2Y12 receptor inhibitors are routinely prescribed for patients after acute coronary syndromes and percutaneous coronary interventions. Patients may have underresponsiveness (or resistance) to these drugs and in particular to clopidogrel, the most often used type. This review aims to focus on the concept of P2Y12 receptor inhibitor resistance and discuss incidence, mechanisms, novel diagnostic techniques and past and future clinical trials on the topic. RECENT FINDINGS: Patients treated with P2Y12 receptor inhibitors may develop high on-treatment platelet reactivity (HPR), a phenomenon of impaired response toward the drug, which has been associated with ischemic complications...
June 28, 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28652891/non-alcoholic-fatty-liver-disease-an-expanded-review
#7
REVIEW
Mark Benedict, Xuchen Zhang
Non-alcoholic fatty liver disease (NAFLD) encompasses the simple steatosis to more progressive steatosis with associated hepatitis, fibrosis, cirrhosis, and in some cases hepatocellular carcinoma. NAFLD is a growing epidemic, not only in the United States, but worldwide in part due to obesity and insulin resistance leading to liver accumulation of triglycerides and free fatty acids. Numerous risk factors for the development of NAFLD have been espoused with most having some form of metabolic derangement or insulin resistance at the core of its pathophysiology...
June 8, 2017: World Journal of Hepatology
https://www.readbyqxmd.com/read/28652462/protective-low-frequency-variants-for-preeclampsia-in-the-fms-related-tyrosine-kinase-1-gene-in-the-finnish-population
#8
A Inkeri Lokki, Emma Daly, Michael Triebwasser, Mitja I Kurki, Elisha D O Roberson, Paavo Häppölä, Kirsi Auro, Markus Perola, Seppo Heinonen, Eero Kajantie, Juha Kere, Katja Kivinen, Anneli Pouta, Jane E Salmon, Seppo Meri, Mark Daly, John P Atkinson, Hannele Laivuori
Preeclampsia is a common pregnancy-specific vascular disorder characterized by new-onset hypertension and proteinuria during the second half of pregnancy. Predisposition to preeclampsia is in part heritable. It is associated with an increased risk of cardiovascular disease later in life. We have sequenced 124 candidate genes implicated in preeclampsia to pinpoint genetic variants contributing to predisposition to or protection from preeclampsia. First, targeted exomic sequencing was performed in 500 preeclamptic women and 190 controls from the FINNPEC cohort (Finnish Genetics of Preeclampsia Consortium)...
August 2017: Hypertension
https://www.readbyqxmd.com/read/28572160/oxidized-phospholipids-and-risk-of-calcific-aortic-valve-disease-the-copenhagen-general-population-study
#9
Pia R Kamstrup, Ming-Yow Hung, Joseph L Witztum, Sotirios Tsimikas, Børge G Nordestgaard
OBJECTIVE: Lipoprotein(a) is causally associated with calcific aortic valve disease (CAVD). Lipoprotein(a) carries proinflammatory and procalcific oxidized phospholipids (OxPL). We tested whether the CAVD risk is mediated by the content of OxPL on lipoprotein(a). APPROACH AND RESULTS: A case-control study was performed within the Copenhagen General Population Study (n=87 980), including 725 CAVD cases (1977-2013) and 1413 controls free of cardiovascular disease...
June 1, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28566229/-cardiovascular-risk-and-cardiovascular-events-in-the-general-population-of-the-sanitary-area-of-toledo-ricarto-study
#10
G C Rodríguez-Roca, L Rodríguez-Padial, F J Alonso-Moreno, A Segura-Fragoso, A Villarín-Castro, M L Rodríguez-García, A Menchén-Herreros, G A Rojas-Martelo, J A Fernández-Conde, L M Artigao-Rodenas, J A Carbayo-Herencia, C Escobar-Cervantes, J Hernández-Moreno, J Fernández-Martín
INTRODUCTION: The main aim of this study is to ascertain the prevalence of cardiovascular risk factors (CVRF), target organ damage (TOD), cardiovascular disease (CVD), as well as life habits (physical exercise, alcohol consumption, and Mediterranean diet) in the population of a Health Area in Toledo, Spain, to assess cardiovascular risk (CVR). MATERIAL AND METHODS: Epidemiological and observational study that will analyse a sample from the general population aged 18 years or older, randomly selected from a database of health cards, and stratified by age and gender...
May 26, 2017: Semergen
https://www.readbyqxmd.com/read/28566218/relations-between-lipoprotein-a-concentrations-lpa-genetic-variants-and-the-risk-of-mortality-in-patients-with-established-coronary-heart-disease-a-molecular-and-genetic-association-study
#11
Stephen Zewinger, Marcus E Kleber, Vinicius Tragante, Raymond O McCubrey, Amand F Schmidt, Kenan Direk, Ulrich Laufs, Christian Werner, Wolfgang Koenig, Dietrich Rothenbacher, Ute Mons, Lutz P Breitling, Herrmann Brenner, Richard T Jennings, Ioannis Petrakis, Sarah Triem, Mira Klug, Alexandra Filips, Stefan Blankenberg, Christoph Waldeyer, Christoph Sinning, Renate B Schnabel, Karl J Lackner, Efthymia Vlachopoulou, Ottar Nygård, Gard Frodahl Tveitevåg Svingen, Eva Ringdal Pedersen, Grethe S Tell, Juha Sinisalo, Markku S Nieminen, Reijo Laaksonen, Stella Trompet, Roelof A J Smit, Naveed Sattar, J Wouter Jukema, Heinrich V Groesdonk, Graciela Delgado, Tatjana Stojakovic, Anna P Pilbrow, Vicky A Cameron, A Mark Richards, Robert N Doughty, Yan Gong, Rhonda Cooper-DeHoff, Julie Johnson, Markus Scholz, Frank Beutner, Joachim Thiery, J Gustav Smith, Ragnar O Vilmundarson, Ruth McPherson, Alexandre F R Stewart, Sharon Cresci, Petra A Lenzini, John A Spertus, Oliviero Olivieri, Domenico Girelli, Nicola I Martinelli, Andreas Leiherer, Christoph H Saely, Heinz Drexel, Axel Mündlein, Peter S Braund, Christopher P Nelson, Nilesh J Samani, Daniel Kofink, Imo E Hoefer, Gerard Pasterkamp, Arshed A Quyyumi, Yi-An Ko, Jaana A Hartiala, Hooman Allayee, W H Wilson Tang, Stanley L Hazen, Niclas Eriksson, Claes Held, Emil Hagström, Lars Wallentin, Axel Åkerblom, Agneta Siegbahn, Igor Karp, Christopher Labos, Louise Pilote, James C Engert, James M Brophy, George Thanassoulis, Peter Bogaty, Wojciech Szczeklik, Marcin Kaczor, Marek Sanak, Salim S Virani, Christie M Ballantyne, Vei-Vei Lee, Eric Boerwinkle, Michael V Holmes, Benjamin D Horne, Aroon Hingorani, Folkert W Asselbergs, Riyaz S Patel, Bernhard K Krämer, Hubert Scharnagl, Danilo Fliser, Winfried März, Thimoteus Speer
BACKGROUND: Lipoprotein(a) concentrations in plasma are associated with cardiovascular risk in the general population. Whether lipoprotein(a) concentrations or LPA genetic variants predict long-term mortality in patients with established coronary heart disease remains less clear. METHODS: We obtained data from 3313 patients with established coronary heart disease in the Ludwigshafen Risk and Cardiovascular Health (LURIC) study. We tested associations of tertiles of lipoprotein(a) concentration in plasma and two LPA single-nucleotide polymorphisms ([SNPs] rs10455872 and rs3798220) with all-cause mortality and cardiovascular mortality by Cox regression analysis and with severity of disease by generalised linear modelling, with and without adjustment for age, sex, diabetes diagnosis, systolic blood pressure, BMI, smoking status, estimated glomerular filtration rate, LDL-cholesterol concentration, and use of lipid-lowering therapy...
July 2017: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/28556832/genetic-susceptibility-to-cardiovascular-disease-and-risk-of-dementia
#12
I K Karlsson, A Ploner, C Song, M Gatz, N L Pedersen, S Hägg
Several studies have shown cardiovascular disease (CVD) to be associated with dementia, but it is not clear whether CVD per se increases the risk of dementia or whether the association is due to shared risk factors. We tested how a genetic risk score (GRS) for coronary artery disease (CAD) affects dementia risk after CVD in 13 231 Swedish twins. We also utilized summarized genome-wide association data to study genetic overlap between CAD and Alzheimer´s disease (AD), and additionally between shared risk factors and each disease...
May 30, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28555288/-congenital-disorders-of-lipoprotein-metabolism
#13
W März, T B Grammer, G Delgado, M E Kleber
Congenital disorders of lipid metabolism are caused by a wide range of variants of the genes for receptors, apolipoproteins, enzymes, transfer factors, and cellular cholesterol transporters. Clinically most relevant are autosomal dominant familial hypercholesterolemia (FH) and familial combined hyperlipoproteinemia (FCHL). FH has a prevalence of 1:250. It is due to mutations of the low density lipoprotein (LDL) receptor, less often to mutations of the apolipoprotein B (APOB), the proprotein convertase subtilisin/kexin type 9 (PCSK9), or the signal transducing adapter family member 1 (STAP1)...
May 29, 2017: Herz
https://www.readbyqxmd.com/read/28538136/genetic-and-pharmacologic-inactivation-of-angptl3-and-cardiovascular-disease
#14
Frederick E Dewey, Viktoria Gusarova, Richard L Dunbar, Colm O'Dushlaine, Claudia Schurmann, Omri Gottesman, Shane McCarthy, Cristopher V Van Hout, Shannon Bruse, Hayes M Dansky, Joseph B Leader, Michael F Murray, Marylyn D Ritchie, H Lester Kirchner, Lukas Habegger, Alex Lopez, John Penn, An Zhao, Weiping Shao, Neil Stahl, Andrew J Murphy, Sara Hamon, Aurelie Bouzelmat, Rick Zhang, Brad Shumel, Robert Pordy, Daniel Gipe, Gary A Herman, Wayne H H Sheu, I-Te Lee, Kae-Woei Liang, Xiuqing Guo, Jerome I Rotter, Yii-Der I Chen, William E Kraus, Svati H Shah, Scott Damrauer, Aeron Small, Daniel J Rader, Anders Berg Wulff, Børge G Nordestgaard, Anne Tybjærg-Hansen, Anita M van den Hoek, Hans M G Princen, David H Ledbetter, David J Carey, John D Overton, Jeffrey G Reid, William J Sasiela, Poulabi Banerjee, Alan R Shuldiner, Ingrid B Borecki, Tanya M Teslovich, George D Yancopoulos, Scott J Mellis, Jesper Gromada, Aris Baras
BACKGROUND: Loss-of-function variants in the angiopoietin-like 3 gene (ANGPTL3) have been associated with decreased plasma levels of triglycerides, low-density lipoprotein (LDL) cholesterol, and high-density lipoprotein (HDL) cholesterol. It is not known whether such variants or therapeutic antagonism of ANGPTL3 are associated with a reduced risk of atherosclerotic cardiovascular disease. METHODS: We sequenced the exons of ANGPTL3 in 58,335 participants in the DiscovEHR human genetics study...
July 20, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28536780/-genetic-testing-in-polygenic-diseases-atrial-fibrillation-arterial-hypertension-and-coronary-artery-disease
#15
T Trenkwalder, T Kessler, H Schunkert
Genetic testing plays an increasing role in cardiovascular medicine. Advances in technology and the development of novel and more affordable (high throughput) methods have led to the identification of genetic risk factors in research and clinical practice. Also, this progress has simplified the screening of patients and individuals at risk. In case of rare monogenic diseases, diagnostics, risk stratification, and, in some cases, treatment decisions have become easier. For common, polygenic cardiovascular diseases, the situation is more complex due to interaction of modifiable external risk factors and nonmodifiable factors like genetic predisposition...
May 23, 2017: Herz
https://www.readbyqxmd.com/read/28535166/adult-height-prevalent-coronary-calcium-score-and-incident-cardiovascular-outcomes-in-a-multi-ethnic-cohort
#16
Joseph Yeboah, Michael J Blaha, Erin D Michos, Waqas Qureshi, Michael Miedema, Peter Flueckiger, Carlos J Rodriguez, Moyses Szklo, Alain G Bertoni
We assessed the relationships among adult height, coronary artery calcium (CAC) scores, incident atherosclerotic cardiovascular disease (ASCVD) events, and atrial fibrillation (Afib) in a multi-ethnic cohort. We used race/ethnicity -specific height (dichotomized by median and quartiles) as the predictor variable within the four race/ethnic groups in the Multi-Ethnic Study of Atherosclerosis (N = 6,814). After a mean of 10.2 years of follow-up (2000-2012), 556 ASCVD events (8.2%) and 539 afib events (7.9%) occurred...
May 23, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28534485/pseudoexfoliation-syndrome-associated-genetic-variants-affect-transcription-factor-binding-and-alternative-splicing-of-loxl1
#17
Francesca Pasutto, Matthias Zenkel, Ursula Hoja, Daniel Berner, Steffen Uebe, Fulvia Ferrazzi, Johannes Schödel, Panah Liravi, Mineo Ozaki, Daniela Paoli, Paolo Frezzotti, Takanori Mizoguchi, Satoko Nakano, Toshiaki Kubota, Shinichi Manabe, Erika Salvi, Paolo Manunta, Daniele Cusi, Christian Gieger, Heinz-Erich Wichmann, Tin Aung, Chiea Chuen Khor, Friedrich E Kruse, André Reis, Ursula Schlötzer-Schrehardt
Although lysyl oxidase-like 1 (LOXL1) is known as the principal genetic risk factor for pseudoexfoliation (PEX) syndrome, a major cause of glaucoma and cardiovascular complications, no functional variants have been identified to date. Here, we conduct a genome-wide association scan on 771 German PEX patients and 1,350 controls, followed by independent testing of associated variants in Italian and Japanese data sets. We focus on a 3.5-kb four-component polymorphic locus positioned spanning introns 1 and 2 of LOXL1 with enhancer-like chromatin features...
May 23, 2017: Nature Communications
https://www.readbyqxmd.com/read/28516251/-severe-hypertriglyceridemia-diagnostics-and-new-treatment-principles
#18
U Kassner, M Dippel, E Steinhagen-Thiessen
Severe hypertriglyceridemia is defined at a plasma triglyceride (TG) concentration of >885 mg/dl and may result - in particular when clinical symptoms appear before the age of 40 - from "large variant" mutations in genes which influence the function of the lipoprotein lipase (LPL). For diagnosis, secondary factors have to be excluded and treated before further genetic tests are considered. Typical symptoms in almost all patients are recurrent, sometimes severe abdominal pain attacks, which can result in acute pancreatitis, the most important, sometimes life-threatening complication...
May 17, 2017: Der Internist
https://www.readbyqxmd.com/read/28512139/a-genome-wide-association-meta-analysis-on-lipoprotein-a-concentrations-adjusted-for-apolipoprotein-a-isoforms
#19
Salome Mack, Stefan Coassin, Rico Rueedi, Noha A Yousri, Ilkka Seppälä, Christian Gieger, Sebastian Schönherr, Lukas Forer, Gertraud Erhart, Pedro Marques-Vidal, Janina Ried, Gerard Waeber, Sven Bergmann, Doreen Dähnhardt, Andrea Stöckl, Olli T Raitakari, Mika Kähönen, Annette Peters, Thomas Meitinger, Konstantin Strauch, Ludmilla Kedenko, Bernhard Paulweber, Terho Lehtimäki, Steven C Hunt, Peter Vollenweider, Claudia Lamina, Florian Kronenberg
High lipoprotein(a) [Lp(a)] concentrations are an independent risk factor for cardiovascular outcomes. Concentrations are strongly influenced by apo(a) KIV repeat isoforms. We aimed to identify genetic loci associated with Lp(a) concentrations using data from five genome-wide association studies (n=13,781). We identified 48 independent SNPs in the LPA and 1 SNP in the APOE gene region to be significantly associated with Lp(a) concentrations. We also adjusted for apo(a) isoforms to identify loci affecting Lp(a) levels independently from them, which resulted in 31 SNPs (30 in the LPA, 1 in the APOE gene region)...
May 16, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28503909/genetic-risk-score-and-cardiovascular-mortality-in-a-southern-european-population-with-coronary-artery-disease
#20
Andreia Pereira, Maria Isabel Mendonca, Ana Célia Sousa, Sofia Borges, Sónia Freitas, Eva Henriques, Mariana Rodrigues, Ana Isabel Freitas, Graça Guerra, Ilídio Ornelas, Décio Pereira, António Brehm, Roberto Palma Dos Reis
Several genetic risk scores (GRS) have been associated with cardiovascular disease; their role, however, in survival from proven coronary artery disease (CAD) have yielded conflicting results. OBJECTIVE: The objective of this study was to evaluate long-term cardiovascular mortality according to the genetic risk score in a Southern European population with CAD. METHODS: A cohort of 1464 CAD patients with angiographic proven CAD were followed up prospectively for up to 58...
May 15, 2017: International Journal of Clinical Practice
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