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Cardiovascular genetic risk testing

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https://www.readbyqxmd.com/read/29765483/mitochondrial-t16189c-polymorphism-is-associated-with-metabolic-syndrome-in-the-mexican-population
#1
Elsa Saldaña-Rivera, Marissa Jaqueline Careaga-Castilla, Giovani Daniel Olvera-Cárdenas, Elvia Pérez-Soto, Virginia Sánchez-Monroy
Genetic factors, such as the mitochondrial DNA (mtDNA) T16189C polymorphism, have been associated with metabolic syndrome (MetS), but this association has not been studied in Mexico to date. The aim of the present study was to determine whether this polymorphism contributes to MetS in the Mexican population. We recruited 100 unrelated volunteer subjects who were divided into 2 groups: with MetS (MetS group) and without MetS (control group). All subjects were genotyped for the mtDNA T16189C polymorphism by polymerase chain reaction and sequencing...
2018: Disease Markers
https://www.readbyqxmd.com/read/29742657/obstetric-management-of-loeys-dietz-syndrome
#2
Melissa L Russo, Neelima Sukhavasi, Veena Mathur, Shaine A Morris
BACKGROUND: Loeys-Dietz syndrome is associated with arterial tortuosity and aortic dissection. Pregnancy may be a period of increased risk for aortic dissection. CASE: A 16-year-old primigravid girl was referred to our center with a family history of aortic dissection. Loeys-Dietz syndrome was suspected, and genetic testing confirmed the TGFβ2 (c.988C>T) mutation. A cesarean delivery was performed at 36 weeks of gestation, with no cardiovascular complications...
May 7, 2018: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29733784/hypertrophic-cardiomyopathy-a-complex-disease
#3
REVIEW
Laura Young, Nicholas G Smedira, Albree Tower-Rader, Harry Lever, Milind Y Desai
Hypertrophic cardiomyopathy (HCM) is a complex cardiovascular disease with wide phenotypic variations. Despite significant advances in imaging and genetic testing, more information is needed about the roles and implications of these resources in clinical practice. Patients with suspected or established HCM should be evaluated at an expert referral center to allow for the best multidisciplinary care. Research is needed to better predict the risk of sudden cardiac death in those judged to be at low risk by current risk-stratification methods...
May 2018: Cleveland Clinic Journal of Medicine
https://www.readbyqxmd.com/read/29732560/single-nucleotide-polymorphisms-in-long-noncoding-rna-anril-are-not-associated-with-severe-periodontitis-but-with-adverse-cardiovascular-events-among-patients-with-cardiovascular-disease
#4
S Schulz, L Seitter, K Werdan, B Hofmann, H-G Schaller, A Schlitt, S Reichert
BACKGROUND AND OBJECTIVE: Biological plausibility of an association between severe periodontitis and cardiovascular disease (CVD) has been proven. Genetic characteristics play an important role in both complex inflammatory diseases. Polymorphisms (single nucleotide polymorphisms [SNPs]) in the long noncoding RNA, antisense noncoding RNA in the INK4 locus (ANRIL), were shown to play a leading role in both diseases. The primary objectives of the study were to assess, among cardiovascular (CV angiographically proven ≥50% stenosis of a main coronary artery) patients, the impact of ANRIL SNPs rs133049 and rs3217992 on the severity of periodontitis and the previous history of coronary events, as well as on the occurrence of further adverse CV events...
May 6, 2018: Journal of Periodontal Research
https://www.readbyqxmd.com/read/29723861/better-renal-resistive-index-profile-in-subjects-with-beta-thalassemia-minor-br-br-br
#5
Fahrettin Basut, Şakir Özgür Keşkek, Bozkurt Gülek
OBJECTIVE: Beta thalassaemia minor is a common genetic disorder without any characteristic symptoms except mild anemia. It is found to be associated with some cardiovascular risk factors such as insulin resistance and diabetes mellitus. The renal resistive index (RRI) is a measure of renal arterial resistance to blood flow. The aim of this study was to evaluate the renal resistive index in subjects with beta thalassaemia minor (BTM). SUBJECTS AND METHODS: A total of 253 subjects were included in this cross-sectional study...
May 3, 2018: Medical Principles and Practice: International Journal of the Kuwait University, Health Science Centre
https://www.readbyqxmd.com/read/29723426/cyp2c19-or-cyp3a5-genotyping-does-not-predict-clinical-response-to-clopidogrel
#6
Fayna Rodríguez-González, Efren Martínez-Quintana, Pedro Saavedra, José M Medina-Gil, Marta Riaño, Paloma Garay-Sánchez, Antonio Tugores
Along with aspirin, clopidogrel has been a widely used antiplatelet therapeutic regimen. Although generally well tolerated, its efficacy varies among individuals, with the main hypothesis that its bioavailability relies on its bioconversion to the active compound, which, in turn, depends on the genetic background and/or interactions with other drugs. To determine which factors influenced response in our patients, 368 patients receiving combined antiaggregation therapy with aspirin and clopidogrel were followed for 1 year to record 30 novel cardiovascular acute events...
May 3, 2018: Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29685715/a-small-change-can-make-a-big-difference-a-lesson-from-evolocumab
#7
Sam Mirzaee, Paul M Thein, Dennis Wong, Arthur Nasis
BACKGROUND: Evolocumab is an expensive proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor which has been shown to significantly improve cardiovascular outcomes in high risk patients. METHODS: This is a case study describing a stepwise approach to "PCSK9 inhibitor non-response" in a patient with familial hypercholesterolaemia. There are a few described pathophysiological mechanisms for "PCSK9 inhibitor non-response" including homozygous LDL-C receptor-negative mutations and alteration in the binding site of PCSK9 inhibitors...
March 20, 2018: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/29671539/evaluation-of-suspected-dementia
#8
Nathan Falk, Ariel Cole, T Jason Meredith
Dementia is a significant and costly health condition that affects 5 million adults and is the fifth leading cause of death among Americans older than 65 years. The prevalence of dementia will likely increase in the future because the number of Americans older than 65 years is expected to double by 2060. Risk factors for dementia include age; family history of dementia; personal history of cardiovascular disease, cerebrovascular disease, diabetes mellitus, or midlife obesity; use of anticholinergic medications; apolipoprotein E4 genotype; and lower education level...
March 15, 2018: American Family Physician
https://www.readbyqxmd.com/read/29666136/systematic-review-and-meta-analysis-of-diabetes-mellitus-cardiovascular-and-respiratory-condition-epidemiology-in-sexual-minority-women
#9
Catherine Meads, Adam Martin, Jeffrey Grierson, Justin Varney
OBJECTIVE: Sexual minority women (SMW) experience higher chronic disease risk factors than heterosexual counterparts. However, it was unclear if these risks translate into higher physical condition rates. This systematic review evaluates cardiovascular disease (CVD), hypertension, respiratory disease and diabetes mellitus in SMW. METHODS: A protocol was registered with the Prospero database (CRD42016050299). Included were studies reporting mortality, incidence or prevalence of the above-listed conditions in SMW compared with heterosexual women...
April 17, 2018: BMJ Open
https://www.readbyqxmd.com/read/29650716/cardiovascular-genetic-risk-testing-for-targeting-statin-therapy-in-the-primary-prevention-of-atherosclerotic-cardiovascular-disease-a-cost-effectiveness-analysis
#10
Jamie Jarmul, Mark J Pletcher, Kristen Hassmiller Lich, Stephanie B Wheeler, Morris Weinberger, Christy L Avery, Daniel E Jonas, Stephanie Earnshaw, Michael Pignone
BACKGROUND: It is unclear whether testing for novel risk factors, such as a cardiovascular genetic risk score (cGRS), improves clinical decision making or health outcomes when used for targeting statin initiation in the primary prevention of atherosclerotic cardiovascular disease (ASCVD). Our objective was to estimate the cost-effectiveness of cGRS testing to inform clinical decision making about statin initiation in individuals with low-to-intermediate (2.5%-7.5%) 10-year predicted risk of ASCVD...
April 2018: Circulation. Cardiovascular Quality and Outcomes
https://www.readbyqxmd.com/read/29643714/combined-effect-of-acid-sensing-ion-channel-3-and-transient-receptor-potential-vanilloid-1-gene-polymorphisms-on-blood-pressure-variations-in-taiwanese
#11
Leay-Kiaw Er, Ming-Sheng Teng, Semon Wu, Lung-An Hsu, I-Shiang Tzeng, Ching-Feng Cheng, Hsin-I Chang, Hsin-Hua Chou, Yu-Lin Ko
Objectives: Both acid-sensing ion channel acid-sensing ion channel 3 (ASIC3) and transient receptor potential vanilloid 1 (TRPV1) have been proposed to be involved in the pathophysiology of hypertension. Common colocalization of ASIC3 and TRPV1 channels in the same sensory neuron has been reported. We aimed to study the combined ASIC3 and TRPV1 gene polymorphisms in the risk of hypertension. Materials and Methods: To test the statistical association between genetic polymorphisms of the ASIC3 and TRPV1 genes and blood pressure (BP) variations in Taiwanese, 551 unrelated individuals (286 men and 265 women) having routine health examinations were recruited...
January 2018: Ci Ji Yi Xue za Zhi, Tzu-chi Medical Journal
https://www.readbyqxmd.com/read/29622589/genome-wide-associations-of-global-electrical-heterogeneity-ecg-phenotype-the-aric-atherosclerosis-risk-in-communities-study-and-chs-cardiovascular-health-study
#12
Larisa G Tereshchenko, Nona Sotoodehnia, Colleen M Sitlani, Foram N Ashar, Muammar Kabir, Mary L Biggs, Michael P Morley, Jonathan W Waks, Elsayed Z Soliman, Alfred E Buxton, Tor Biering-Sørensen, Scott D Solomon, Wendy S Post, Thomas P Cappola, David S Siscovick, Dan E Arking
BACKGROUND: ECG global electrical heterogeneity (GEH) is associated with sudden cardiac death. We hypothesized that a genome-wide association study would identify genetic loci related to GEH. METHODS AND RESULTS: We tested genotyped and imputed variants in black (N=3057) and white (N=10 769) participants in the ARIC (Atherosclerosis Risk in Communities) study and CHS (Cardiovascular Health Study). GEH (QRS-T angle, sum absolute QRST integral, spatial ventricular gradient magnitude, elevation, azimuth) was measured on 12-lead ECGs...
April 5, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29610995/extra-renal-manifestations-of-atypical-hemolytic-uremic-syndrome-in-children
#13
Kibriya Fidan, Nilüfer Göknar, Bora Gülhan, Engin Melek, Zeynep Y Yıldırım, Esra Baskın, Mutlu Hayran, Kaan Gülleroglu, Zeynep B Özçakar, Fatih Ozaltin, Oguz Soylemezoglu
BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a chronic disease characterized by thrombotic microangiopathy and a high risk of end-stage kidney disease. Dysregulation and/or excessive activation of the complement system results in thrombotic microangiopathy. Interest in extrarenal manifestations of aHUS is increasing. This study aimed to determine the clinical characteristics of patients with extrarenal manifestations of aHUS in childhood. METHODS: This study included 70 children with extrarenal manifestations of HUS from the national Turkish aHUS Registry...
April 2, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29596577/rare-scarb1-mutations-associate-with-high-density-lipoprotein-cholesterol-but-not-with-coronary-artery-disease
#14
Anna Helgadottir, Patrick Sulem, Gudmundur Thorgeirsson, Solveig Gretarsdottir, Gudmar Thorleifsson, Brynjar Ö Jensson, Gudny A Arnadottir, Isleifur Olafsson, Gudmundur I Eyjolfsson, Olof Sigurdardottir, Unnur Thorsteinsdottir, Daniel F Gudbjartsson, Hilma Holm, Kari Stefansson
Aims: Scavenger receptor Class B Type 1 (SR-BI) is a major receptor for high-density lipoprotein (HDL) that promotes hepatic uptake of cholesterol from HDL. A rare mutation p.P376L, in the gene encoding SR-BI, SCARB1, was recently reported to associate with elevated HDL cholesterol (HDL-C) and increased risk of coronary artery disease (CAD), suggesting that increased HDL-C caused by SR-BI impairment might be an independent marker of cardiovascular risk. We tested the hypothesis that alleles in or close to SCARB1 that associate with elevated levels of HDL-C also associate with increased risk of CAD in the relatively homogeneous population of Iceland...
March 27, 2018: European Heart Journal
https://www.readbyqxmd.com/read/29590672/prenatally-diagnosed-single-umbilical-artery-sua-retrospective-analysis-of-1169-fetuses
#15
Ulrike Friebe-Hoffmann, Andreas Hiltmann, Thomas W P Friedl, Krisztian Lato, Rüdiger Hammer, Wolfgang Janni, Peter Kozlowski
PURPOSE:  The incidence of a fetal single umbilical artery (SUA) is about 0.5 % and has been associated with an increased risk of congenital malformations, fetal aneuploidy and intrauterine growth restriction (IUGR). MATERIALS AND METHODS:  A retrospective analysis of 1169 women with singleton pregnancies diagnosed with fetal SUA between 1997 and 2014 in a specialized practice for prenatal diagnostics has been performed. Data was obtained on maternal and fetal findings as well as pregnancy outcome...
March 28, 2018: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/29572929/multiple-genetic-variations-in-sodium-channel-subunits-in-a-case-of-sudden-infant-death-syndrome
#16
Federico Denti, Bo Hjorth Bentzen, Julianne Wojciak, Nancy Mutsaers Thomsen, Melvin Scheinman, Nicole Schmitt
BACKGROUND: Dysfunction of NaV 1.5 encoded by SCN5A accounts for approximately half of the channelopathic SIDS cases. We investigated the functional effect of two gene variants identified in the same patient, one in SCN5A and one in SCN1Bb. The aim of the study was to risk stratify the proband's family. METHODS: The family was referred for cardiovascular genetic evaluation to assess familial risk of cardiac disease. Functional analysis of the identified variants was performed with patch-clamp electrophysiology in HEK293 cells...
March 23, 2018: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/29567486/genetic-evaluation-of-cardiomyopathy-a-heart-failure-society-of-america-practice-guideline
#17
Ray E Hershberger, Michael Givertz, Carolyn Y Ho, Daniel P Judge, Paul Kantor, Kim L McBride, Ana Morales, Matthew R G Taylor, Matteo Vatta, Stephanie M Ware
This guideline describes the approach and expertise needed for the genetic evaluation of cardiomyopathy. First published in 2009 by the Heart Failure Society of America (HFSA), this guidance has now been updated in collaboration with the American College of Medical Genetics and Genomics (ACMG). The writing group, composed of cardiologists and genetics professionals with expertise in adult and pediatric cardiomyopathy, reflects the emergence and increased clinical activity devoted to cardiovascular genetic medicine...
March 19, 2018: Journal of Cardiac Failure
https://www.readbyqxmd.com/read/29561990/clinical-anthropometric-and-biochemical-characteristics-of-patients-with-or-without-genetically-confirmed-familial-hypercholesterolemia
#18
Andrea De Lorenzo, Juliana Duarte Lopes da Silva, Cinthia E James, Alexandre C Pereira, Annie Seixas Bello Moreira
BACKGROUND: Familial hypercholesterolemia (FH) is a common autosomal dominant disorder, characterized by a high level of low-density lipoprotein cholesterol (LDL-C) and a high risk of premature cardiovascular disease. OBJECTIVE: To evaluate clinical and anthropometric characteristics of patients with the familiar hypercholesterolemia (FH) phenotype, with or without genetic confirmation of FH. METHODS: Forty-five patients with LDL-C > 190 mg/dl were genotyped for six FH-related genes: LDLR, APOB, PCSK9, LDLRAP1, LIPA and APOE...
February 2018: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/29561320/genetic-cardiomyopathies
#19
Jane E Wilcox, Ray E Hershberger
PURPOSE OF REVIEW: To describe recent advancements in cardiovascular genetics made possible by leveraging next-generation sequencing (NGS), and to provide a framework for practical applications of genetic testing for hypertrophic (HCM), dilated (DCM), and arrhythmogenic right ventricular cardiomyopathies (ARVC). RECENT FINDINGS: The availability of NGS has made possible extensive reference databases. These, combined with recent initiatives to compile previously siloed commercial and research cardiomyopathy data sets, provide a more powerful and precise approach to cardiovascular genetic medicine...
March 19, 2018: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/29558024/predictors-of-poor-outcome-in-patients-with-left-ventricular-noncompaction-review-of-the-literature
#20
REVIEW
Marcin Kubik, Alicja Dąbrowska-Kugacka, Ewa Lewicka, Ludmiła Daniłowicz-Szymanowicz, Grzegorz Raczak
Left ventricular noncompaction (LVNC) is a unique inherited cardiomyopathy, characterized by an increased risk of adverse cardiovascular events such as heart failure, arrhythmia or sudden cardiac death. Although in comparison to dilated cardiomyopathy, the number of clinical studies concerning LVNC is still small, it is quickly increasing, which reflects a huge effort of the cardiovascular society to develop data to improve understanding of this cardiomyopathy. However, the predictors of adverse outcomes in LVNC are not well established...
March 16, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
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