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Cardiovascular genetic risk testing

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https://www.readbyqxmd.com/read/28087566/application-of-whole-exome-sequencing-in-the-clinical-diagnosis-and-management-of-inherited-cardiovascular-diseases-in-adults
#1
Sara B Seidelmann, Emily Smith, Lakshman Subrahmanyan, Daniel Dykas, Maen D Abou Ziki, Bani Azari, Fady Hannah-Shmouni, Yuexin Jiang, Joseph G Akar, Mark Marieb, Daniel Jacoby, Allen E Bale, Richard P Lifton, Arya Mani
BACKGROUND: With the advent of high throughput sequencing, the identification of genetic causes of cardiovascular disease (CVD) has become an integral part of medical diagnosis and management and at the forefront of personalized medicine in this field. The use of whole exome sequencing for clinical diagnosis, risk stratification, and management of inherited CVD has not been previously evaluated. METHODS AND RESULTS: We analyzed the results of whole exome sequencing in first 200 adult patients with inherited CVD, who underwent genetic testing at the Yale Program for Cardiovascular Genetics...
February 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28075528/prospective-evaluation-of-genetic-variation-in-platelet-endothelial-aggregation-receptor-1-reveals-aspirin-dependent-effects-on-platelet-aggregation-pathways
#2
J D Backman, L M Yerges-Armstrong, R B Horenstein, S Newcomer, S Shaub, M Morrisey, P Donnelly, M Drolet, K Tanner, M A Pavlovich, J R O'Connell, B D Mitchell, J P Lewis
Genetic variation in the platelet endothelial aggregation receptor 1 (PEAR1) gene, most notably rs12041331, is implicated in altered on-aspirin platelet aggregation and increased cardiovascular event risk. We prospectively tested the effects of aspirin administration at commonly prescribed doses (81, 162, and 324 mg/day) on agonist-induced platelet aggregation by rs12041331 genotype in 67 healthy individuals. Prior to aspirin administration, rs12041331 minor allele carriers had significantly reduced adenosine diphosphate (ADP)-induced platelet aggregation compared with noncarriers (P = 0...
January 11, 2017: Clinical and Translational Science
https://www.readbyqxmd.com/read/28074886/post-mortem-whole-exome-analysis-in-a-large-sudden-infant-death-syndrome-cohort-with-a-focus-on-cardiovascular-and-metabolic-genetic-diseases
#3
Jacqueline Neubauer, Maria Rita Lecca, Giancarlo Russo, Christine Bartsch, Argelia Medeiros-Domingo, Wolfgang Berger, Cordula Haas
Sudden infant death syndrome (SIDS) is described as the sudden and unexplained death of an apparently healthy infant younger than one year of age. Genetic studies indicate that up to 35% of SIDS cases might be explained by familial or genetic diseases such as cardiomyopathies, ion channelopathies or metabolic disorders that remained undetected during conventional forensic autopsy procedures. Post-mortem genetic testing by using massive parallel sequencing (MPS) approaches represents an efficient and rapid tool to further investigate unexplained death cases and might help to elucidate pathogenic genetic variants and mechanisms in cases without a conclusive cause of death...
January 11, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28069601/comprehensive-multi-modality-imaging-approach-in-arrhythmogenic-cardiomyopathy-an-expert-consensus-document-of-the-european-association-of-cardiovascular-imaging
#4
Kristina H Haugaa, Cristina Basso, Luigi P Badano, Chiara Bucciarelli-Ducci, Nuno Cardim, Oliver Gaemperli, Maurizio Galderisi, Gilbert Habib, Juhani Knuuti, Patrizio Lancellotti, William McKenna, Danilo Neglia, Bogdan A Popescu, Thor Edvardsen
Arrhythmogenic cardiomyopathy (AC) is a progressive disease with high risk of life-threatening ventricular arrhythmias. A genetic mutation is found in up to 50-60% of probands, mostly affecting desmosomal genes. Diagnosis of AC is made by a combination of data from different modalities including imaging, electrocardiogram, Holter monitoring, family history, genetic testing, and tissue properties. Being a progressive cardiomyopathy, repeated cardiac imaging is needed in AC patients. Repeated imaging is important also for risk assessment of ventricular arrhythmias...
January 9, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28063875/clinical-worthlessness-of-genetic-prediction-of-common-forms-of-diabetes-mellitus-and-related-chronic-complications-a-position-statement-of-the-italian-society-of-diabetology
#5
REVIEW
R Buzzetti, S Prudente, M Copetti, M Dauriz, S Zampetti, M Garofolo, G Penno, V Trischitta
AIM: We are currently facing several attempts aimed at marketing genetic data for predicting multifactorial diseases, among which diabetes mellitus is one of the more prevalent. The present document primarily aims at providing to practicing physicians a summary of available data regarding the role of genetic information in predicting diabetes and its chronic complications. DATA SYNTHESIS: Firstly, general information about characteristics and performance of risk prediction tools will be presented in order to help clinicians to get acquainted with basic methodological information related to the subject at issue...
August 26, 2016: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
https://www.readbyqxmd.com/read/28062618/use-of-biomarkers-in-predicting-the-onset-monitoring-the-progression-and-risk-stratification-for-patients-with-type-2-diabetes-mellitus
#6
REVIEW
Benjamin M Scirica
BACKGROUND: As the worldwide prevalence of type 2 diabetes mellitus (T2DM) increases, it is even more important to develop cost-effective methods to predict and diagnose the onset of diabetes, monitor progression, and risk stratify patients in terms of subsequent cardiovascular and diabetes complications. CONTENT: Nonlaboratory clinical risk scores based on risk factors and anthropomorphic data can help identify patients at greatest risk of developing diabetes, but glycemic indices (hemoglobin A1c, fasting plasma glucose, and oral glucose tolerance tests) are the cornerstones for diagnosis, and the basis for monitoring therapy...
January 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28059156/genetic-screening-in-arterial-hypertension
#7
REVIEW
Gian Paolo Rossi, Giulio Ceolotto, Brasilina Caroccia, Livia Lenzini
Studies involving adoptive families and twins have demonstrated the genetic basis of hypertension and shown that genetic factors account for about 40% of the variance in blood pressure among individuals. Arterial hypertension is genetically complex: multiple genes influence the blood pressure phenotype through allelic effects from single genes and gene-gene interactions. Moreover, environmental factors also modify the blood pressure phenotype. This complexity explains why the identification of the underlying genes has not been as successful in hypertension as in other diseases (such as type 1 and type 2 diabetes mellitus)...
January 6, 2017: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/28055992/-practicality-of-cardiovascular-risk-functions
#8
Jaume Marrugat, Roberto Elosua, Gloria Icaza, Alberto Morales-Salinas, Irene R Dégano
Cardiovascular diseases prevention strategies require refinement because their incidence decreases very slowly. Risk functions were developed by including classical cardiovascular risk factors (age, sex, smoking, diabetes, blood pressure, and basic lipid profile) in cohorts followed more than 10 years. They are reasonably precise for population screening of, principally, coronary artery disease risk, required in all cardiovascular primary prevention clinical guidelines. Coronary artery disease risk functions classify patients in risk strata to concentrate the maximum therapeutic and life style effort in the highest risk groups, in which the number needed to treat and cost-effectiveness are optimal...
December 13, 2016: Medwave
https://www.readbyqxmd.com/read/28033544/complement-receptor-1-gene-polymorphisms-are-associated-with-cardiovascular-risk
#9
Marijke A de Vries, Stella Trompet, Simon P Mooijaart, Roelof A J Smit, Stefan Böhringer, Manuel Castro Cabezas, J Wouter Jukema
BACKGROUND AND AIMS: Inflammation plays a key role in atherosclerosis. The complement system is involved in atherogenesis, and the complement receptor 1 (CR1) plays a role facilitating the clearance of immune complexes from the circulation. Limited evidence suggests that CR1 may be involved in cardiovascular disease. We investigated the relationship between CR1 gene polymorphisms and cardiovascular risk. METHODS: Single nucleotide polymorphisms (SNPs) within the CR1 region (n = 73) on chromosome 1 were assessed in 5244 participants in PROSPER (PROspective Study of Pravastatin in the Elderly at Risk) (mean age 75...
December 20, 2016: Atherosclerosis
https://www.readbyqxmd.com/read/28031319/apolipoprotein-e4-is-associated-with-improved-cognitive-function-in-amazonian-forager-horticulturalists-with-a-high-parasite-burden
#10
Benjamin C Trumble, Jonathan Stieglitz, Aaron D Blackwell, Hooman Allayee, Bret Beheim, Caleb E Finch, Michael Gurven, Hillard Kaplan
The apolipoprotein E4 (E4) allele is present worldwide, despite its associations with higher risk of cardiovascular morbidity, accelerated cognitive decline during aging, and Alzheimer 'S: disease (AD). The E4 allele is especially prevalent in some tropical regions with a high parasite burden. Equatorial populations also face a potential dual burden of high E4 prevalence combined with parasitic infections that can also reduce cognitive performance. We examined the interactions of E4, parasite burden, and cognitive performance in a traditional, nonindustrialized population of Amazonian forager-horticulturalists (N = 372) to test whether E4 protects against cognitive decline in environments with a heavy pathogen burden...
December 28, 2016: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28031317/coffee-intake-cardiovascular-disease-and-all-cause-mortality-observational-and-mendelian-randomization-analyses-in-95%C3%A2-000-223%C3%A2-000-individuals
#11
Ask Tybjærg Nordestgaard, Børge Grønne Nordestgaard
BACKGROUND: Coffee has been associated with modestly lower risk of cardiovascular disease and all-cause mortality in meta-analyses; however, it is unclear whether these are causal associations. We tested first whether coffee intake is associated with cardiovascular disease and all-cause mortality observationally; second, whether genetic variations previously associated with caffeine intake are associated with coffee intake; and third, whether the genetic variations are associated with cardiovascular disease and all-cause mortality...
December 28, 2016: International Journal of Epidemiology
https://www.readbyqxmd.com/read/28002425/genetic-loci-and-novel-discrimination-measures-associated-with-blood-pressure-variation-in-african-americans-living-in-tallahassee
#12
Jacklyn Quinlan, Laurel N Pearson, Christopher J Clukay, Miaisha M Mitchell, Qasimah Boston, Clarence C Gravlee, Connie J Mulligan
Sequencing of the human genome and decades of genetic association and linkage studies have dramatically improved our understanding of the etiology of many diseases. However, the multiple causes of complex diseases are still not well understood, in part because genetic and sociocultural risk factors are not typically investigated concurrently. Hypertension is a leading risk factor for cardiovascular disease and afflicts more African Americans than any other racially defined group in the US. Few genetic loci for hypertension have been replicated across populations, which may reflect population-specific differences in genetic variants and/or inattention to relevant sociocultural factors...
2016: PloS One
https://www.readbyqxmd.com/read/27958623/clinical-expression-of-holt-oram-syndrome-on-the-basis-of-own-clinical-experience-considering-prenatal-diagnosis
#13
Zofia Walencka, Aleksander Jamsheer, Piotr Surmiak, Małgorzata Baumert, Aleksandra Jezela-Stanek, Andrzej Witek, Anna Materna-Kiryluk, Anna Latos-Bieleńska, Magdalena Socha, Anna Sowińska-Seidler
OBJECTIVES: Holt-Oram syndrome manifests with defects of upper limbs, pectoral girdle and cardiovascular system. The aim of this paper was to present complex clinical picture of the syndrome and its variable expression on the example of the family diagnosed genetically on the neonatal ward, after proband's prenatal examination. MARETIAL AND METHODS: Nine family members were tested for TBX5 gene mutation. RESULTS: Four of family members were diagnosed with Holt-Oram syndrome and five had correct genetic test results...
2016: Ginekologia Polska
https://www.readbyqxmd.com/read/27940953/genetic-invalidation-of-lp-pla2-as-a-therapeutic-target-large-scale-study-of-five-functional-lp-pla2-lowering-alleles
#14
John M Gregson, Daniel F Freitag, Praveen Surendran, Nathan O Stitziel, Rajiv Chowdhury, Stephen Burgess, Stephen Kaptoge, Pei Gao, James R Staley, Peter Willeit, Sune F Nielsen, Muriel Caslake, Stella Trompet, Linda M Polfus, Kari Kuulasmaa, Jukka Kontto, Markus Perola, Stefan Blankenberg, Giovanni Veronesi, Francesco Gianfagna, Satu Männistö, Akinori Kimura, Honghuang Lin, Dermot F Reilly, Mathias Gorski, Vladan Mijatovic, Patricia B Munroe, Georg B Ehret, Alex Thompson, Maria Uria-Nickelsen, Anders Malarstig, Abbas Dehghan, Thomas F Vogt, Taishi Sasaoka, Fumihiko Takeuchi, Norihiro Kato, Yoshiji Yamada, Frank Kee, Martina Müller-Nurasyid, Jean Ferrières, Dominique Arveiler, Philippe Amouyel, Veikko Salomaa, Eric Boerwinkle, Simon G Thompson, Ian Ford, J Wouter Jukema, Naveed Sattar, Chris J Packard, Abdulla Al Shafi Majumder, Dewan S Alam, Panos Deloukas, Heribert Schunkert, Nilesh J Samani, Sekar Kathiresan, Børge G Nordestgaard, Danish Saleheen, Joanna Mm Howson, Emanuele Di Angelantonio, Adam S Butterworth, John Danesh
AIMS: Darapladib, a potent inhibitor of lipoprotein-associated phospholipase A2 (Lp-PLA2), has not reduced risk of cardiovascular disease outcomes in recent randomized trials. We aimed to test whether Lp-PLA2 enzyme activity is causally relevant to coronary heart disease. METHODS: In 72,657 patients with coronary heart disease and 110,218 controls in 23 epidemiological studies, we genotyped five functional variants: four rare loss-of-function mutations (c.109+2T > C (rs142974898), Arg82His (rs144983904), Val279Phe (rs76863441), Gln287Ter (rs140020965)) and one common modest-impact variant (Val379Ala (rs1051931)) in PLA2G7, the gene encoding Lp-PLA2...
December 11, 2016: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/27935899/-algorithm-for-selection-of-individual-therapy-with-clopidogrel-in-vascular-surgical-practice
#15
A I Shevela, A A Slepukhina, E M Zelenskaya, T A Seredina, G I Lifshits
For treatment of patients with diseases of lower limb arteries and prevention of cardiovascular complications in high-risk patients (those with diabetes mellitus, arterial hypertension, dyslipidemia, obesity) permanent antiplatelet therapy is indicated. A problem is variable individual sensitivity to therapeutic agents. For antiplatelet therapy in patients with atherosclerosis of lower limb arteries there has been obtained an evidence-supported base concerning efficacy of long-term administration of clopidogrel preparations, unlike patients with acute coronary syndrome, for whom there has been accumulated an evidence-confirmed base of administering clopidogrel preparations, as well as ticagrelor and prasugrel in various clinical situations...
2016: Angiologii︠a︡ i Sosudistai︠a︡ Khirurgii︠a︡, Angiology and Vascular Surgery
https://www.readbyqxmd.com/read/27910804/sudden-cardiac-death-a-nationwide-cohort-study-among-the-young
#16
Bjarke Risgaard
Sudden cardiac death (SCD) is a tragic event affecting millions of individuals worldwide. Although several studies have investigated the epidemiology of SCD, these studies may have been affected by reporting and referral biases, which are reflected in the very different incidence rates and causes of deaths that have previously been reported. Among SCD victims aged < 36 years, inherited cardiac diseases are well known to play an important role. However, the extent to which inherited cardiac diseases also play a role in SCD victims aged < 50 years has not been completely described...
December 2016: Danish Medical Journal
https://www.readbyqxmd.com/read/27900865/-treatment-of-dyslipidemia-is-here-still-place-for-cetp-inhibitors
#17
Ján Murín, Miroslav Pernický, Soňa Kiňová
In the treatment of dyslipidemias about 5-6 years back a new class of drugs emerged, CETP (cholesteryl ester transfer protein)-inhibitors. Their benefit was due to an increase of HDL-cholesterol (HDL-C) serum levels. This treatment mode was supported by epidemiological and clinical studies, as people with high serum HDL-C levels suffered less from cardiovascular (CV) events. Three studies with CETP inhibitors (ILLUMINATE with torcetrapib, dal-OUTCOMES with dalcetrapib and ACCELERATE with evacetrapib) were unfortunately negative, and torcetrapib was even harmful to patients due to an increase of aldosterone serum levels...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27893808/common-polymorphisms-in-the-5-lipoxygenase-pathway-and-risk-of-incident-myocardial-infarction-a-danish-case-cohort-study
#18
Anders Gammelmark, Michael S Nielsen, Søren Lundbye-Christensen, Anne Tjønneland, Erik B Schmidt, Kim Overvad
BACKGROUND: The 5-lipoxygenase pathway (5-LOX) has been implicated in the development of cardiovascular disease and studies have suggested that genetic polymorphisms related to key enzymes in this pathway may confer risk of myocardial infarction (MI). This study investigated the association of pre-selected genetic polymorphisms in four candidate genes of 5-LOX (arachidonate 5-lipoxygenase and its activating protein (ALOX-5 and FLAP), leukotriene A4 hydroxylase (LTA4-H) and leukotriene C4 synthase (LTC4-S)) with incident MI...
2016: PloS One
https://www.readbyqxmd.com/read/27888869/latest-advances-in-chronic-pancreatitis
#19
J Enrique Domínguez-Muñoz
This article summarizes some of the recent and clinically relevant advances in chronic pancreatitis. These advances mainly concern the definition of the disease, the etiological diagnosis of idiopathic disease, the correlation between fibrosis degree and pancreatic secretion in the early stages of chronic pancreatitis, the treatment of the disease and of pain, the clinical relevance of pancreatic exocrine insufficiency, and the diagnosis of autoimmune pancreatitis. A new mechanistic definition of chronic pancreatitis has been proposed...
September 2016: Gastroenterología y Hepatología
https://www.readbyqxmd.com/read/27871254/familial-aggregation-of-albuminuria-and-arterial-hypertension-in-an-aboriginal-australian-community-and-the-contribution-of-variants-in-ace-and-tp53
#20
David L Duffy, Stephen P McDonald, Beverley Hayhurst, Sianna Panagiotopoulos, Trudy J Smith, Xing L Wang, David E Wilcken, Natalia L Duarte, John Mathews, Wendy E Hoy
BACKGROUND: Aboriginal Australians are at high risk of cardiovascular, metabolic and renal diseases, resulting in a marked reduction in life expectancy when compared to the rest of the Australian population. This is partly due to recognized environmental and lifestyle risk factors, but a contribution of genetic susceptibility is also likely. METHODS: Using results from a comprehensive survey of one community (N = 1350 examined individuals), we have tested for familial aggregation of plasma glucose, arterial blood pressure, albuminuria (measured as urinary albumin to creatinine ratio, UACR) and estimated glomerular filtration rate (eGFR), and quantified the contribution of variation at four candidate genes (ACE; TP53; ENOS3; MTHFR)...
November 21, 2016: BMC Nephrology
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