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https://www.readbyqxmd.com/read/27910804/sudden-cardiac-death-a-nationwide-cohort-study-among-the-young
#1
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/27908349/truncating-flnc-mutations-are-associated-with-high-risk-dilated-and-arrhythmogenic-cardiomyopathies
#2
Martín F Ortiz-Genga, Sofía Cuenca, Matteo Dal Ferro, Esther Zorio, Ricardo Salgado-Aranda, Vicente Climent, Laura Padrón-Barthe, Iria Duro-Aguado, Juan Jiménez-Jáimez, Víctor M Hidalgo-Olivares, Enrique García-Campo, Chiara Lanzillo, M Paz Suárez-Mier, Hagith Yonath, Sonia Marcos-Alonso, Juan P Ochoa, José L Santomé, Diego García-Giustiniani, Jorge L Rodríguez-Garrido, Fernando Domínguez, Marco Merlo, Julián Palomino, María L Peña, Juan P Trujillo, Alicia Martín-Vila, Davide Stolfo, Pilar Molina, Enrique Lara-Pezzi, Francisco E Calvo-Iglesias, Eyal Nof, Leonardo Calò, Roberto Barriales-Villa, Juan R Gimeno-Blanes, Michael Arad, Pablo García-Pavía, Lorenzo Monserrat
BACKGROUND: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death. OBJECTIVES: The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies...
December 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27866366/a-qualitative-study-of-patients-perceptions-of-the-value-of-molecular-diagnosis-for-familial-hypercholesterolemia-fh
#3
Nina Hallowell, Nicholas Jenkins, Margaret Douglas, Simon Walker, Robert Finnie, Mary Porteous, Julia Lawton
For many years, familial hypercholesterolemia (FH), an inherited disorder, has been diagnosed using phenotypic features plus family history of early onset cardiovascular disease (CVD), and has been successfully treated using statin therapy. DNA testing is now available and this has been incorporated into familial cascade screening programmes in many parts of Europe. Little is known about patients' perceptions of the value of undergoing molecular diagnosis for FH. In-depth interviews were carried out with patients (n = 38) being treated for FH who were the first in their family to undergo DNA testing for FH...
November 19, 2016: Journal of Community Genetics
https://www.readbyqxmd.com/read/27866151/genotyping-by-sequencing-based-investigation-of-the-genetic-architecture-responsible-for-a-7-fold-increase-in-soybean-seed-stearic-acid
#4
Crystal B Heim, Jason D Gillman
Soybean oil is highly unsaturated but oxidatively unstable, rendering it non-ideal for food applications. Until recently, the majority of soybean oil underwent partial chemical hydrogenation, which produces trans fats as an unavoidable consequence. Dietary intake of trans fats and most saturated fats are conclusively linked to negative impacts on cholesterol levels and cardiovascular health. Two major soybean oil breeding targets are : 1) to reduce or eliminate the need for chemical hydrogenation, and 2) to replace the functional properties of partially hydrogenated soybean oil...
November 18, 2016: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/27836914/masked-hypertension-understanding-its-complexity
#5
REVIEW
Stanley S Franklin, Eoin O'Brien, Jan A Staessen
Masked hypertension, which is present when in-office normotension translates to out-of-office hypertension, is present in a surprisingly high percentage of untreated persons and an even higher percentage of patients after beginning antihypertensive medication. Not only are persons with prehypertension more likely to have masked hypertension than those with optimal blood pressure (BP), but also they frequently develop target organ damage prior to transitioning to sustained hypertension. Furthermore, the frequency of masked hypertension is high in individuals of African inheritance and in the presence of increased cardiovascular risk factors and disease states, such as diabetes and chronic renal failure...
November 10, 2016: European Heart Journal
https://www.readbyqxmd.com/read/27827529/a-design-thinking-approach-to-primary-ovarian-insufficiency
#6
Lisa A Martin, Alison G Porter, Vincent A Pelligrini, Peter A Schnatz, Xuezhi Jiang, Nicole Kleinstreuer, Janet E Hall, Sarah Verbiest, Jill Olmstead, Ryan Fair, Alberto Falorni, Luca Persani, Aleksandar Rajkovic, Khanjan Mehta, Lawrence M Nelson
Most clinicians are not prepared to provide integrated personal care to address all the clinical needs of women with primary ovarian insufficiency. Design thinking is an engineering methodology used to develop and evaluate novel concepts for systems operation. Here we articulate the need for a seamlessly integrated mobile health system to support genomic research as well as patient care. We also review the pathophysiology and management of primary ovarian insufficiency. Molecular understanding regarding the pathogenesis is essential to developing strategies for prevention, earlier diagnosis, and appropriate management of the disorder...
November 9, 2016: Panminerva Medica
https://www.readbyqxmd.com/read/27826344/clinical-characteristics-of-marfan-syndrome-in-korea
#7
A Young Lim, Ju Sun Song, Eun Kyoung Kim, Shin Yi Jang, Tae-Young Chung, Seung-Hyuk Choi, Kiick Sung, June Huh, I-Seok Kang, Yeon Hyeon Choe, Chang-Seok Ki, Duk-Kyung Kim
BACKGROUND AND OBJECTIVES: Marfan syndrome (MFS) is a connective tissue disorder with autosomal dominant inheritance and a highly variable clinical spectrum. However, there are limited data available on the clinical features of Korean patients with MFS. The aim of the present study was to describe the clinical characteristics and outcomes of Korean patients with MFS. SUBJECTS AND METHODS: We included all patients who were diagnosed with MFS between January 1995 and May 2015 at a single tertiary medical center...
November 2016: Korean Circulation Journal
https://www.readbyqxmd.com/read/27813552/enos-gene-glu298asp-and-4b-a-polymorphisms-are-associated-with-renal-function-parameters-in-mexican-patients-with-fabry-disease
#8
A Marin-Medina, A J L Brambila-Tapia, V J Picos-Cárdenas, M P Gallegos-Arreola, L E Figuera
Fabry disease (FD) is an inherited X-linked lysosomal disease that causes renal failure in a high percentage of affected individuals. The eNOS gene encodes for endothelial nitric oxide synthase, which plays an important role in glomerular hemodynamics. This gene has two main polymorphisms (Glu298Asp and 4b/a) that have been studied in the context of many different diseases, including those involving cardiovascular and renal alterations. Considering the lack of information regarding eNOS variants and FD, we investigated whether there were associations between eNOS genetic variants and renal function parameters in Mexican patients with FD and renal impairment...
October 24, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27812813/-coagulation-management-in-geriatric-surgery
#9
H Eichler
BACKGROUND: Elderly patients often suffer from cardiovascular diseases and are treated with anticoagulation medications, which must be taken into consideration when planning elective surgery. OBJECTIVE: The etiology, diagnostic work-up and clinical management of selected inherited and acquired hemophilic and thrombophilic coagulation disorders are described. METHODS: Data from clinical studies, current guidelines and expert opinions are discussed...
November 3, 2016: Der Chirurg; Zeitschrift Für Alle Gebiete der Operativen Medizen
https://www.readbyqxmd.com/read/27796501/higher-serum-asymmetric-dimethylarginine-is-related-to-higher-risk-of-heart-failure-in-the-epic-potsdam-study
#10
Janine Wirth, Dorothee Atzler, Romina di Giuseppe, Kathrin Cordts, Juliane Menzel, Rainer H Böger, Heiner Boeing, Cornelia Weikert, Edzard Schwedhelm
L-Arginine is the substrate of endothelial nitric oxide (NO) synthase forming NO which inherits various biological cardio-protective functions. The dimethylarginines asymmetric (ADMA) and symmetric dimethylarginine (SDMA) can impair the synthesis of NO and are elevated in patients with cardiovascular disease, including heart failure (HF). We investigated the association between dimethylarginines and HF risk in a case-cohort study of the European Prospective Investigation into Cancer and Nutrition (n = 27,548), comprising a random subcohort (n = 2224 including 19 HF cases), and all remaining HF cases (n = 176) that occurred within 8...
October 28, 2016: Amino Acids
https://www.readbyqxmd.com/read/27792790/phactr1-is-a-genetic-susceptibility-locus-for-fibromuscular-dysplasia-supporting-its-complex-genetic-pattern-of-inheritance
#11
Soto Romuald Kiando, Nathan R Tucker, Luis-Jaime Castro-Vega, Alexander Katz, Valentina D'Escamard, Cyrielle Tréard, Daniel Fraher, Juliette Albuisson, Daniella Kadian-Dodov, Zi Ye, Erin Austin, Min-Lee Yang, Kristina Hunker, Cristina Barlassina, Daniele Cusi, Pilar Galan, Jean-Philippe Empana, Xavier Jouven, Anne-Paule Gimenez-Roqueplo, Patrick Bruneval, Esther Soo Hyun Kim, Jeffrey W Olin, Heather L Gornik, Michel Azizi, Pierre-François Plouin, Patrick T Ellinor, Iftikhar J Kullo, David J Milan, Santhi K Ganesh, Pierre Boutouyrie, Jason C Kovacic, Xavier Jeunemaitre, Nabila Bouatia-Naji
Fibromuscular dysplasia (FMD) is a nonatherosclerotic vascular disease leading to stenosis, dissection and aneurysm affecting mainly the renal and cerebrovascular arteries. FMD is often an underdiagnosed cause of hypertension and stroke, has higher prevalence in females (~80%) but its pathophysiology is unclear. We analyzed ~26K common variants (MAF>0.05) generated by exome-chip arrays in 249 FMD patients and 689 controls. We replicated 13 loci (P<10-4) in 402 cases and 2,537 controls and confirmed an association between FMD and a variant in the phosphatase and actin regulator 1 gene (PHACTR1)...
October 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27788681/native-t1-values-identify-myocardial-changes-and-stratify-disease-severity-in-patients-with-duchenne-muscular-dystrophy
#12
Laura J Olivieri, Peter Kellman, Robert J McCarter, Russell R Cross, Michael S Hansen, Christopher F Spurney
BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked, inherited disorder causing dilated cardiomyopathy with variable onset and progression. Currently we lack objective markers of the effect of therapies targeted towards preventing progression of subclinical cardiac disease. Thus, our aim was to compare the ability of native T1 and extracellular volume (ECV) measurements to differentiate risk of myocardial disease in DMD and controls. METHODS: Twenty boys with DMD and 16 age/gender-matched controls without history predisposing to cardiac fibrosis, but with a clinical indication for cardiovascular magnetic resonance (CMR) evaluation, underwent CMR with contrast...
October 28, 2016: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/27783906/child-parent-familial-hypercholesterolemia-screening-in-primary-care
#13
David S Wald, Jonathan P Bestwick, Joan K Morris, Ken Whyte, Lucy Jenkins, Nicholas J Wald
Background Child-parent screening for familial hypercholesterolemia has been proposed to identify persons at high risk for inherited premature cardiovascular disease. We assessed the efficacy and feasibility of such screening in primary care practice. Methods We obtained capillary blood samples to measure cholesterol levels and to test for familial hypercholesterolemia mutations in 10,095 children 1 to 2 years of age during routine immunization visits. Children were considered to have positive screening results for familial hypercholesterolemia if their cholesterol level was elevated and they had either a familial hypercholesterolemia mutation or a repeat elevated cholesterol level 3 months later...
October 27, 2016: New England Journal of Medicine
https://www.readbyqxmd.com/read/27761159/molecular-autopsy-in-victims-of-inherited-arrhythmias
#14
Christopher Semsarian, Jodie Ingles
Sudden cardiac death (SCD) is a rare but devastating complication of a number of underlying cardiovascular diseases. While coronary artery disease and acute myocardial infarction are the most common causes of SCD in older populations, inherited cardiac disorders comprise a substantial proportion of SCD cases aged less than 40 years. Inherited cardiac disorders include primary inherited arrhythmogenic disorders such as familial long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and inherited cardiomyopathies, most commonly hypertrophic cardiomyopathy (HCM)...
October 2016: Journal of Arrhythmia
https://www.readbyqxmd.com/read/27742792/global-phosphoproteomic-profiling-reveals-perturbed-signaling-in-a-mouse-model-of-dilated-cardiomyopathy
#15
Uros Kuzmanov, Hongbo Guo, Diana Buchsbaum, Jake Cosme, Cynthia Abbasi, Ruth Isserlin, Parveen Sharma, Anthony O Gramolini, Andrew Emili
Phospholamban (PLN) plays a central role in Ca(2+) homeostasis in cardiac myocytes through regulation of the sarco(endo)plasmic reticulum Ca(2+)-ATPase 2A (SERCA2A) Ca(2+) pump. An inherited mutation converting arginine residue 9 in PLN to cysteine (R9C) results in dilated cardiomyopathy (DCM) in humans and transgenic mice, but the downstream signaling defects leading to decompensation and heart failure are poorly understood. Here we used precision mass spectrometry to study the global phosphorylation dynamics of 1,887 cardiac phosphoproteins in early affected heart tissue in a transgenic R9C mouse model of DCM compared with wild-type littermates...
October 14, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27729090/extending-the-developmental-origins-of-health-and-disease-theory-does-paternal-diet-contribute-to-breast-cancer-risk-in-daughters
#16
Stephanie Romanus, Patrick Neven, Adelheid Soubry
The Developmental Origins of Health and Disease (DOHaD) theory focuses on the consequences of periconceptional and in utero exposures. A wide range of environmental conditions during early development are now being investigated as a driving force for epigenetic disruptions that enhance disease risk in later life, including cardiovascular, metabolic, endocrine, and mental disorders and even breast cancer. Most studies involve mother-child dyads, with less focus on environmental influences through the father...
October 12, 2016: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/27711248/tetrahydrobiopterin-supplementation-elevation-of-tissue-biopterin-levels-accompanied-by-a-relative-increase-in-dihydrobiopterin-in-the-blood-and-the-role-of-probenecid-sensitive-uptake-in-scavenging-dihydrobiopterin-in-the-liver-and-kidney-of-rats
#17
Akiko Ohashi, Yusuke Saeki, Tomonori Harada, Masako Naito, Tomihisa Takahashi, Shin Aizawa, Hiroyuki Hasegawa
Tetrahydrobiopterin (BH4) is an essential cofactor of nitric oxide synthase (NOS) and aromatic amino acid hydroxylases. BH4 and 7,8-dihydrobiopterin (BH2) are metabolically interchangeable at the expense of NADPH. Exogenously administered BH4 can be metabolized by the body, similar to vitamins. At present, synthetic BH4 is used as an orphan drug for patients with inherited diseases requiring BH4 supplementation. BH4 supplementation has also drawn attention as a means of treating certain cardiovascular symptoms, however, its application in human patients remains limited...
2016: PloS One
https://www.readbyqxmd.com/read/27695998/minding-the-genes-a-multidisciplinary-approach-towards-genetic-assessment-of-cardiovascular-disease
#18
Ashley Rhodes, Lindsey Rosman, John Cahill, Jodie Ingles, Brittney Murray, Crystal Tichnell, Cynthia A James, Samuel F Sears
Genetic assessment for inherited cardiovascular disease (CVD) is increasingly available, due in part to rapid innovations in genetic sequencing technologies. While genetic testing is aimed at reducing uncertainty, it also produces awareness of potential medical conditions and can leave patients feeling uncertain about their risk, especially if there are ambiguous results. This uncertainty can produce psychological distress for patients and their families undergoing the assessment process. Additionally, patients may experience psychological distress related to living with inherited CVD...
September 30, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27681577/update-on-hypertrophic-cardiomyopathy-and-a-guide-to-the-guidelines
#19
REVIEW
Srijita Sen-Chowdhry, Daniel Jacoby, James C Moon, William J McKenna
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder, affecting 1 in 500 individuals worldwide. Existing epidemiological studies might have underestimated the prevalence of HCM, however, owing to limited inclusion of individuals with early, incomplete phenotypic expression. Clinical manifestations of HCM include diastolic dysfunction, left ventricular outflow tract obstruction, ischaemia, atrial fibrillation, abnormal vascular responses and, in 5% of patients, progression to a 'burnt-out' phase characterized by systolic impairment...
November 2016: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/27634649/identification-and-validation-of-seven-new-loci-showing-differential-dna-methylation-related-to-serum-lipid-profile-an-epigenome-wide-approach-the-regicor-study
#20
S Sayols-Baixeras, I Subirana, C Lluis-Ganella, F Civeira, J Roquer, A N Do, D Absher, D Muñoz, C Soriano-Tárraga, J Jiménez-Conde, J Ordovas, M Senti, S Aslibekyan, J Marrugat, D K Arnett, R Elosua
Lipid traits (total, low-density and high-density lipoprotein cholesterol, and triglycerides) are risk factors for cardiovascular disease. DNA methylation is an inherited but also modifiable epigenetic mark that has been related to cardiovascular risk factors. Our aim was to identify loci showing differential DNA methylation related to serum lipid levels. Blood DNA methylation was assessed using the Illumina HumanMethylation450 BeadChip. A two-stage epigenome-wide association study was performed, with a discovery sample in the REGICOR study (n=645) and validation in the Framingham Offspring Study (n=2,542)...
September 15, 2016: Human Molecular Genetics
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