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Cardiovascular genetic risk testing

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
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
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
Eloisa Arbustini, Valentina Favalli, Alessandro Di Toro, Lorenzo Giuliani, Giuseppe Limongelli
The concept "common presentation of rare diseases" implies that rare diseases are masked by common phenotypic manifestations. This concept applies to both aneurysmal and valvular diseases that can be syndromic and non-syndromic. Syndromic disorders include genetic connective tissue diseases and chromosomal disorders that are diagnosed independently from the aneurysm or valve disease. Non-syndromic diseases, on the other hand, are defined by the presence of aneurysm or valve disease or both. The reasons for suspecting these rare diseases include young age, the absence of risk factors, a positive family history for aortic or valvular disease/event, and extra-cardiovascular traits for syndromes...
April 15, 2018: International Journal of Cardiology
Claudia Tamar Silva, Irina V Zorkoltseva, Maartje N Niemeijer, Marten E van den Berg, Najaf Amin, Ayşe Demirkan, Elisa van Leeuwen, Adriana I Iglesias, Laura B Piñeros-Hernández, Carlos M Restrepo, Jan A Kors, Anatoly V Kirichenko, Rob Willemsen, Ben A Oostra, Bruno H Stricker, André G Uitterlinden, Tatiana I Axenovich, Cornelia M van Duijn, Aaron Isaacs
BACKGROUND: Electrocardiographic measures of left ventricular hypertrophy (LVH) are used as predictors of cardiovascular risk. We combined linkage and association analyses to discover novel rare genetic variants involved in three such measures and two principal components derived from them. METHODS: The study was conducted among participants from the Erasmus Rucphen Family Study (ERF), a Dutch family-based sample from the southwestern Netherlands. Variance components linkage analyses were performed using Merlin...
March 5, 2018: BMC Medical Genomics
Russell Knutsen, Scott C Beeman, Thomas J Broekelmann, Delong Liu, Kit Man Tsang, Attila Kovacs, Li Ye, Joshua Danback, Anderson Watson, Amanda Wardlaw, Jessica Wagenseil, Joel R Garbow, Michael Shoykhet, Beth A Kozel
Increased vascular stiffness correlates with higher risk of cardiovascular complications in aging adults. Elastin insufficiency, as observed in patients with Williams-Beuren syndrome or with familial supravalvular aortic stenosis, also increases vascular stiffness and leads to arterial narrowing. We used Eln+/- mice to test the hypothesis that pathologically increased vascular stiffness with concomitant arterial narrowing leads to decreased blood flow to end organs such as the brain. We also hypothesized that drugs which remodel arteries and increase lumen diameter would improve flow...
March 2, 2018: American Journal of Physiology. Heart and Circulatory Physiology
A V Kuskaeva, S Y Niculina, A A Chernova, N V Aksutina, A P Kuskaev, I I Cherkashina
OBJECTIVE: To study associations of I / D polymorphism of the ACE gene with risk of atrial fibrillation (AF) with the aim of detecting groups of patients prone to development of this disease. MATERIALS AND METHODS: We examined 90 probands with confirmed diagnosis of AF and 144 their I, II, III degrees relatives. These families constituted a core group of our study. The control group comprised 100 relatively healthy people without history of cardiovascular diseases...
February 2018: Kardiologiia
Claus H Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore, Anne Skakkebæk
Although first identified over 70 years ago, Klinefelter syndrome (KS) continue to pose significant diagnostic challenges, as many patients are still misdiagnosed, or remain undiagnosed. In fact, as few as 25% of KS patients are accurately diagnosed, and most of these diagnoses are not made until adulthood. Classic characteristics of KS include small testes, infertility, hypergonadothropic hypogonadism, and cognitive impairment. However, the pathophysiology behind KS is not well understood, although genetic effects are also thought to play a role...
February 9, 2018: Endocrine Reviews
Xue Li, Xiangrui Meng, Athina Spiliopoulou, Maria Timofeeva, Wei-Qi Wei, Aliya Gifford, Xia Shen, Yazhou He, Tim Varley, Paul McKeigue, Ioanna Tzoulaki, Alan F Wright, Peter Joshi, Joshua C Denny, Harry Campbell, Evropi Theodoratou
OBJECTIVES: We aimed to investigate the role of serum uric acid (SUA) level in a broad spectrum of disease outcomes using data for 120 091 individuals from UK Biobank. METHODS: We performed a phenome-wide association study (PheWAS) to identify disease outcomes associated with SUA genetic risk loci. We then implemented conventional Mendelian randomisation (MR) analysis to investigate the causal relevance between SUA level and disease outcomes identified from PheWAS...
February 6, 2018: Annals of the Rheumatic Diseases
Ivan Curjuric, Medea Imboden, Robert Bettschart, Seraina Caviezel, Julia Dratva, Marco Pons, Thomas Rothe, Arno Schmidt-Trucksäss, Daiana Stolz, Gian Andri Thun, Arnold von Eckardstein, Florian Kronenberg, Ilaria Ferrarotti, Nicole M Probst-Hensch
BACKGROUND AND AIMS: Alpha-1 antitrypsin (A1AT) is the most abundant serine protease inhibitor in human blood and exerts important anti-inflammatory and immune-modulatory effects. In combination with smoking or other long-term noxious exposures such as occupational dust and fumes, genetic A1AT deficiency can cause chronic obstructive pulmonary disease, a condition with elevated cardiovascular risk. The effects of A1AT deficiency on cardiovascular risk have hardly been studied today. METHODS: Using data from 2614 adults from the population-based SAPALDIA cohort, we tested associations of serum A1AT and SERPINA1 mutations with carotid intima-media thickness (CIMT, measured by B-mode ultrasonography) or self-reported arterial hypertension or cardiovascular disease in multiple regression models using a Mendelian Randomization like analysis design...
January 31, 2018: Atherosclerosis
Tao Zhang, Kuiying Yu, Xuhua Li
BACKGROUND: Inconsistent conclusions have been reported for the genetic relationship between CYP4F2 (Cytochrome P450 Family 4 Subfamily F Member 2) polymorphisms and the susceptibility to cardiovascular and cerebrovascular diseases. METHODS: We performed a meta-analysis to assess the potential role of rs1558139 C/T and rs2108622 G/A polymorphisms of CYP4F2 in the risks of cardiovascular and cerebrovascular diseases. The retrieval of four databases, including PubMed, Web of Science (WOS), China National Knowledge Infrastructure (CNKI) and WANFANG DATA, was conducted...
February 9, 2018: BMC Cardiovascular Disorders
Cèlia Rodríguez-Borjabad, Daiana Ibarretxe, Josefa Girona, Raimon Ferré, Albert Feliu, Núria Amigó, Eugenio Guijarro, Luis Masana, Núria Plana
BACKGROUND AND AIMS: Familial hypercholesterolaemia (FH) is underdiagnosed in children. In addition to lipid concentrations, lipoprotein particle quantity and quality could influence cardiovascular risk. We aimed to perform a comprehensive plasma lipid study, including lipoprotein particle number and size assessment by two-dimensional nuclear magnetic resonance (2D-1H-NMR), in children with FH compared to non-affected children and to evaluate the clinical value of these factors as subclinical atherosclerosis biomarkers...
January 31, 2018: Atherosclerosis
H M H Spronk, T Padro, J E Siland, J H Prochaska, J Winters, A C van der Wal, J J Posthuma, G Lowe, E d'Alessandro, P Wenzel, D M Coenen, P H Reitsma, W Ruf, R H van Gorp, R R Koenen, T Vajen, N A Alshaikh, A S Wolberg, F L Macrae, N Asquith, J Heemskerk, A Heinzmann, M Moorlag, N Mackman, P van der Meijden, J C M Meijers, M Heestermans, T Renné, S Dólleman, W Chayouâ, R A S Ariëns, C C Baaten, M Nagy, A Kuliopulos, J J Posma, P Harrison, M J Vries, H J G M Crijns, E A M P Dudink, H R Buller, Y M C Henskens, A Själander, S Zwaveling, O Erküner, J W Eikelboom, A Gulpen, F E C M Peeters, J Douxfils, R H Olie, T Baglin, A Leader, U Schotten, B Scaf, H M M van Beusekom, L O Mosnier, L van der Vorm, P Declerck, M Visser, D W J Dippel, V J Strijbis, K Pertiwi, A J Ten Cate-Hoek, H Ten Cate
Atherothrombosis is a leading cause of cardiovascular mortality and long-term morbidity. Platelets and coagulation proteases, interacting with circulating cells and in different vascular beds, modify several complex pathologies including atherosclerosis. In the second Maastricht Consensus Conference on Thrombosis, this theme was addressed by diverse scientists from bench to bedside. All presentations were discussed with audience members and the results of these discussions were incorporated in the final document that presents a state-of-the-art reflection of expert opinions and consensus recommendations regarding the following five topics: 1...
February 2018: Thrombosis and Haemostasis
Philippe Couvert, Philippe Giral, Pierre-Yves Boelle, Valérie Carreau, Sophie Béliard, Jean-Marc Lacorte, Philippe Lesnik, Francois Paillard, René Valéro, Annelies Rotthier, Eric Bruckert, Alain Carrié
No abstract text is available yet for this article.
August 2017: Atherosclerosis
Nuno Cardim, Dulce Brito, Luís Rocha Lopes, António Freitas, Carla Araújo, Adriana Belo, Lino Gonçalves, Jorge Mimoso, Iacopo Olivotto, Perry Elliott, Hugo Madeira
INTRODUCTION: We report the results of the Portuguese Registry of Hypertrophic Cardiomyopathy, an initiative that reflects the current spectrum of cardiology centers throughout the territory of Portugal. METHODS: A direct invitation to participate was sent to cardiology departments. Baseline and outcome data were collected. RESULTS: A total of 29 centers participated and 1042 patients were recruited. Four centers recruited 49% of the patients, of whom 59% were male, and mean age at diagnosis was 53±16 years...
January 19, 2018: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
Joseph M Pappachan, Nyo Nyo Tun, Ganesan Arunagirinathan, Ravinder Sodi, Fahmy W F Hanna
PURPOSE OF REVIEW: Pheochromocytomas and paragangliomas (PPGLs) are uncommon catecholamine-producing neuroendocrine neoplasms that usually present with secondary hypertension. This review is to update the current knowledge about these neoplasms, the pathophysiology, genetic aspects and diagnostic and therapeutic algorithms based on scientific literature mostly within the past 3 years. RECENT FINDINGS: Eighty to eighty-five percent of PPGLs arise from the adrenal medulla (pheochromocytomas; PCCs) and the remainder from the autonomic neural ganglia (paragangliomas; PGLs)...
January 22, 2018: Current Hypertension Reports
Alina Solomon, Heidi Turunen, Tiia Ngandu, Markku Peltonen, Esko Levälahti, Seppo Helisalmi, Riitta Antikainen, Lars Bäckman, Tuomo Hänninen, Antti Jula, Tiina Laatikainen, Jenni Lehtisalo, Jaana Lindström, Teemu Paajanen, Satu Pajala, Anna Stigsdotter-Neely, Timo Strandberg, Jaakko Tuomilehto, Hilkka Soininen, Miia Kivipelto
Importance: The role of the apolipoprotein E (APOE) ε4 allele as an effect modifier in lifestyle interventions to prevent cognitive impairment is still unclear. Objective: To examine whether the APOE ε4 allele modifies the previously reported significant cognitive benefits of a multidomain lifestyle intervention (prespecified subgroup analysis). Design, Setting, and Participants: The Finnish Geriatric Intervention Study to Prevent Cognitive Impairment and Disability (FINGER) was a randomized clinical trial in 6 centers across Finland (screening and randomization performed from September 7, 2009, through November 24, 2011; intervention duration, 2 years)...
January 22, 2018: JAMA Neurology
Ares Pasipoularides
Genomics designates the coordinated investigation of a large number of genes in the context of a biological process or disease. It may be long before we attain comprehensive understanding of the genomics of common complex cardiovascular diseases (CVDs) such as inherited cardiomyopathies, valvular diseases, primary arrhythmogenic conditions, congenital heart syndromes, hypercholesterolemia and atherosclerotic heart disease, hypertensive syndromes, and heart failure with preserved/reduced ejection fraction. Nonetheless, as genomics is evolving rapidly, it is constructive to survey now pertinent concepts and breakthroughs...
January 16, 2018: Journal of Molecular and Cellular Cardiology
Gian Paolo Fadini, Mattia Albiero, Benedetta Maria Bonora, Nicol Poncina, Saula Vigili de Kreutzenberg, Angelo Avogaro
BACKGROUND: The risk of diabetic complications is modified by genetic and epigenetic factors. p66Shc drives the hyperglycaemic cell damage and its deletion prevents experimental diabetic complications. We herein tested whether p66Shc expression in peripheral blood mononuclear cells (PBMCs) predicts adverse outcomes in people with diabetes. METHODS: In a cohort of 100 patients with diabetes (16 type 1 and 84 type 2), we quantified baseline p66Shc expression in PBMCs by quantitative PCR...
January 17, 2018: Cardiovascular Diabetology
Mark Houston
Numerous clinical trials suggest that we have reached a limit in our ability to decrease the incidence of coronary heart disease (CHD) and cardiovascular disease (CVD) utilizing the traditional diagnostic evaluation, prevention and treatment strategies for the top five cardiovascular risk factors of hypertension, diabetes mellitus, dyslipidemia, obesity and smoking. About 80% of heart disease (heart attacks, angina, coronary heart disease and congestive heart failure) can be prevented by optimal nutrition, optimal exercise, optimal weight and body composition, mild alcohol intake and avoiding smoking...
January 1, 2018: Therapeutic Advances in Cardiovascular Disease
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