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https://www.readbyqxmd.com/read/28108127/g-enome-wide-association-study-in-takotsubo-syndrome-preliminary-results-and-future-directions
#1
Ingo Eitel, Christian Moeller, Matthias Munz, Thomas Stiermaier, Thomas Meitinger, Holger Thiele, Jeanette Erdmann
BACKGROUND: Takotsubo syndrome (TS) is an acute non-ischemic cardiomyopathy characterized by transient regional systolic dysfunction of the left and/or right ventricle with still unknown etiology. The aim of the current study was to conduct for the first time a genome-wide association study (GWAS) in a cohort of TS patients to identify potential genetic risk variants. METHODS: This single-center study was conducted at the University Heart Center Lübeck from 2008 to 2016...
January 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28105587/phenotype-specific-association-of-single-nucleotide-polymorphisms-with-heart-failure-and-preserved-ejection-fraction-a-genome-wide-association-analysis-of-the-cardiovascular-health-study
#2
David P Kao, Laura M Stevens, Michael A Hinterberg, Carsten Görg
Little is known about genetics of heart failure with preserved ejection fraction (HFpEF) in part because of the many comorbidities in this population. To identify single-nucleotide polymorphisms (SNPs) associated with HFpEF, we analyzed phenotypic and genotypic data from the Cardiovascular Health Study, which profiled patients using a 50,000 SNP array. Results were explored using novel SNP- and gene-centric tools. We performed analyses to determine whether some SNPs were relevant only in certain phenotypes...
January 19, 2017: Journal of Cardiovascular Translational Research
https://www.readbyqxmd.com/read/28103510/exo-organoplasty-interventions-a-brief-review-of-past-present-and-future-directions-for-advance-heart-failure-management
#3
REVIEW
Waqas Nawaz, Farhan Ullah Khan, Muhammad Zahid Khan, Wang Gang, Mengqi Yang, Xiaoqian Liao, Li Zhang, Awais Ullah Ihsan, Amjad Khan, Lei Han, Xiaohui Zhou
Heart failure (HF) is a debilitating disease in which abnormal function of the heart leads to imbalance of blood demand to tissues and organs. The pathogenesis of HF is very complex and various factors can contribute including myocardial infarction, ischemia, hypertension and genetic cardiomyopathies. HF is the leading cause of death and its prevalence is expected to increase in parallel with the population age. Different kind of therapeutic approaches including lifestyle modification, medication and pacemakers are used for HF patients in NYHA I-III functional class...
January 16, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28102864/transthyretin-v122i-pv142i-cardiac-amyloidosis-an-age-dependent-autosomal-dominant-cardiomyopathy-too-common-to-be-overlooked-as-a-cause-of-significant-heart-disease-in-elderly-african-americans
#4
REVIEW
Joel N Buxbaum, Frederick L Ruberg
Since the identification of a valine-to-isoleucine substitution at position 122 (TTR V122I; pV142I) in the transthyretin (TTR)-derived fibrils extracted from the heart of a patient with late-onset cardiac amyloidosis, it has become clear that the amyloidogenic mutation and the disease occur almost exclusively in individuals of identifiable African descent. In the United States, the amyloidogenic allele frequency is 0.0173 and is carried by 3.5% of community-dwelling African Americans. Genotyping across Africa indicates that the origin of the allele is in the West African countries that were the major source of the slave trade to North America...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28099159/reducing-false-arrhythmia-alarm-rates-using-robust-heart-rate-estimation-and-cost-sensitive-support-vector-machines
#5
Qiang Zhang, Xianxiang Chen, Zhen Fang, Qingyuan Zhan, Ting Yang, Shanhong Xia
To lessen the rate of false critical arrhythmia alarms, we used robust heart rate estimation and cost-sensitive support vector machines. The PhysioNet MIMIC II database and the 2015 PhysioNet/CinC Challenge public database were used as the training dataset; the 2015 Challenge hidden dataset was for testing. Each record had an alarm labeled with asystole, extreme bradycardia, extreme tachycardia, ventricular tachycardia or ventricular flutter/fibrillation. Before alarm onsets, 300 s multimodal data was provided, including electrocardiogram, arterial blood pressure and/or photoplethysmogram...
January 18, 2017: Physiological Measurement
https://www.readbyqxmd.com/read/28098235/molecular-characterization-of-pediatric-restrictive-cardiomyopathy-from-integrative-genomics
#6
Tara N Rindler, Robert B Hinton, Nathan Salomonis, Stephanie M Ware
Pediatric restrictive cardiomyopathy (RCM) is a genetically heterogeneous heart disease with limited therapeutic options. RCM cases are largely idiopathic; however, even within families with a known genetic cause for cardiomyopathy, there is striking variability in disease severity. Although accumulating evidence implicates both gene expression and alternative splicing in development of dilated cardiomyopathy (DCM), there have been no detailed molecular characterizations of underlying pathways dysregulated in RCM...
January 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28097184/kif6-719arg-genetic-variant-and-risk-for-thoracic-aortic-dissection
#7
Olga A Iakoubova, Carmen H Tong, Joseph Catanese, Charles M Rowland, May M Luke, Maryann Tranquilli, John A Elefteriades
BACKGROUND: Carriers of the 719Arg variant in KIF6, compared with noncarriers, have been reported to be at greater risk for coronary heart disease (CHD) in six prospective studies. Because CHD, thoracic aortic dissection, and nondissection thoracic aortic aneurysm share some risk factors and aspects of pathophysiology, we investigated whether carriers of the 719Arg variant also have greater odds of thoracic aortic dissection or nondissected thoracic aortic aneurysm than noncarriers. METHODS: We genotyped 140 thoracic aortic dissection cases, 497 nondissection thoracic aortic aneurysm cases, and 275 disease-free controls collected in the United States, Hungary, and Greece and investigated the association between KIF6 719Arg carrier status and thoracic aortic dissection, and between KIF6 719Arg carrier status and nondissection thoracic aortic aneurysm, using logistic regression models adjusted for age, sex, hypertension, smoking, and country...
June 2016: Aorta (Stamford, Conn.)
https://www.readbyqxmd.com/read/28096432/effects-of-activity-genetic-selection-and-their-interaction-on-muscle-metabolic-capacities-and-organ-masses-in-mice
#8
Scott A Kelly, Fernando R Gomes, Erik M Kolb, Jessica L Malisch, Theodore Garland
Chronic voluntary exercise elevates total daily energy expenditure (DEE) and food consumption, potentially resulting in organ compensation supporting nutrient extraction/utilization. Additionally, species with naturally higher DEE often have larger processing organs, which may represent genetic differences and/or phenotypic plasticity. We tested for possible adaptive changes in organ masses of 4 replicate lines of house mice selected (37 generations) for high running (HR lines) compared with 4 non-selected control (C) lines...
January 17, 2017: Journal of Experimental Biology
https://www.readbyqxmd.com/read/28096226/disseminated-adenovirus-infection-causing-severe-ards
#9
Steven J Campbell, Jessica A Kynyk, John A Davis
A previously healthy young man with a rare genetic condition presented with severe acute respiratory distress syndrome secondary to pneumonia with septic shock. He did not improve with conventional therapy for his known causal organism thus prompting further workup. He was found to be profoundly immunosuppressed raising our suspicion for atypical organisms. A bronchoalveolar lavage sample was positive via PCR for adenovirus which we suspect exacerbated a pre-existing bacterial pneumonia and led to a severe and non-responsive respiratory failure...
January 17, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28096195/the-multifunctional-mitochondrial-epac1-controls-myocardial-cell-death
#10
Loubina Fazal, Marion Laudette, Sílvia Paula-Gomes, Sandrine Pons, Caroline Conte, Florence Tortosa, Pierre Sicard, Yannis Sainte-Marie, Malik Bisserier, Olivier Lairez, Alexandre Lucas, Jérôme Roy, Bijan Ghaleh, Jeremy Fauconnier, Jeanne Mialet-Perez, Frank Lezoualc'h
RATIONALE: Although the second messenger cyclic AMP (cAMP) is physiologically beneficial in the heart, it largely contributes to cardiac disease progression when dysregulated. Current evidence suggests that cAMP is produced within mitochondria. However, mitochondrial cAMP signaling and its involvement in cardiac pathophysiology are far from being understood. OBJECTIVE: To investigate the role of mitochondrial exchange protein directly activated by cAMP 1 (MitEpac1) in ischemia/reperfusion (I/R) injury...
January 17, 2017: Circulation Research
https://www.readbyqxmd.com/read/28095617/probing-forebrain-to-hindbrain-circuit-functions-in-xenopus
#11
REVIEW
Darcy B Kelley, Taffeta M Elliott, Ben J Evans, Ian C Hall, Elizabeth C Leininger, Heather J Rhodes, Ayako Yamaguchi, Erik Zornik
The vertebrate hindbrain includes neural circuits that govern essential functions including breathing, blood pressure and heart rate. Hindbrain circuits also participate in generating rhythmic motor patterns for vocalization. In most tetrapods, sound production is powered by expiration and the circuitry underlying vocalization and respiration must be linked. Perception and arousal are also linked; acoustic features of social communication sounds - e.g. a baby's cry - can drive autonomic responses. The close links between autonomic functions that are essential for life and vocal expression have been a major in vivo experimental challenge...
January 17, 2017: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/28095459/association-of-body-mass-index-with-dna-methylation-and-gene-expression-in-blood-cells-and-relations-to-cardiometabolic-disease-a-mendelian-randomization-approach
#12
Michael M Mendelson, Riccardo E Marioni, Roby Joehanes, Chunyu Liu, Åsa K Hedman, Stella Aslibekyan, Ellen W Demerath, Weihua Guan, Degui Zhi, Chen Yao, Tianxiao Huan, Christine Willinger, Brian Chen, Paul Courchesne, Michael Multhaup, Marguerite R Irvin, Ariella Cohain, Eric E Schadt, Megan L Grove, Jan Bressler, Kari North, Johan Sundström, Stefan Gustafsson, Sonia Shah, Allan F McRae, Sarah E Harris, Jude Gibson, Paul Redmond, Janie Corley, Lee Murphy, John M Starr, Erica Kleinbrink, Leonard Lipovich, Peter M Visscher, Naomi R Wray, Ronald M Krauss, Daniele Fallin, Andrew Feinberg, Devin M Absher, Myriam Fornage, James S Pankow, Lars Lind, Caroline Fox, Erik Ingelsson, Donna K Arnett, Eric Boerwinkle, Liming Liang, Daniel Levy, Ian J Deary
BACKGROUND: The link between DNA methylation, obesity, and adiposity-related diseases in the general population remains uncertain. METHODS AND FINDINGS: We conducted an association study of body mass index (BMI) and differential methylation for over 400,000 CpGs assayed by microarray in whole-blood-derived DNA from 3,743 participants in the Framingham Heart Study and the Lothian Birth Cohorts, with independent replication in three external cohorts of 4,055 participants...
January 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28095410/cardiomyocyte-regulation-of-systemic-lipid-metabolism-by-the-apolipoprotein-b-containing-lipoproteins-in-drosophila
#13
Sunji Lee, Hong Bao, Zachary Ishikawa, Weidong Wang, Hui-Ying Lim
The heart has emerged as an important organ in the regulation of systemic lipid homeostasis; however, the underlying mechanism remains poorly understood. Here, we show that Drosophila cardiomyocytes regulate systemic lipid metabolism by producing apolipoprotein B-containing lipoproteins (apoB-lipoproteins), essential lipid carriers that are so far known to be generated only in the fat body. In a Drosophila genetic screen, we discovered that when haplo-insufficient, microsomal triglyceride transfer protein (mtp), required for the biosynthesis of apoB-lipoproteins, suppressed the development of diet-induced obesity...
January 17, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28092973/elevated-ambulatory-systolic-diastolic-pressure-regression-index-is-genetically-determined-in-hypertensive-patients-with-coronary-heart-disease
#14
Marcin Wirtwein, Olle Melander, Marketa Sjőgren, Michal Hoffmann, Krzysztof Narkiewicz, Marcin Gruchala, Wojciech Sobiczewski
OBJECTIVES: Ambulatory systolic-diastolic pressure regression index (ASDPRI) as a composite marker of cardiovascular (CV) properties is related to CV complications. However, genetic determinants of ASDPRI are not known. The aim of this study is to report the relationship between certain single nucleotide polymorphisms (SNP) and ASDPRI in hypertensive patients with CAD confirmed by coronary angiography. METHODS: A total of 1345 hypertensive subjects with CAD were included...
January 16, 2017: Blood Pressure
https://www.readbyqxmd.com/read/28090761/modest-overexpression-of-foxo-maintains-cardiac-proteostasis-and-ameliorates-age-associated-functional-decline
#15
Anna C Blice-Baum, Alexander C Zambon, Gaurav Kaushik, Meera C Viswanathan, Adam J Engler, Rolf Bodmer, Anthony Cammarato
Heart performance declines with age. Impaired protein quality control (PQC), due to reduced ubiquitin-proteasome system (UPS) activity, autophagic function, and/or chaperone-mediated protein refolding, contributes to cardiac deterioration. The transcription factor FOXO participates in regulating genes involved in PQC, senescence, and numerous other processes. Here, a comprehensive approach, involving molecular genetics, novel assays to probe insect cardiac physiology, and bioinformatics, was utilized to investigate the influence of heart-restricted manipulation of dFOXO expression in the rapidly aging Drosophila melanogaster model...
February 2017: Aging Cell
https://www.readbyqxmd.com/read/28090760/expression-patterns-of-cardiac-aging-in-drosophila
#16
Leah Cannon, Alexander C Zambon, Anthony Cammarato, Zhi Zhang, Georg Vogler, Matthew Munoz, Erika Taylor, Jérôme Cartry, Sanford I Bernstein, Simon Melov, Rolf Bodmer
Aging causes cardiac dysfunction, often leading to heart failure and death. The molecular basis of age-associated changes in cardiac structure and function is largely unknown. The fruit fly, Drosophila melanogaster, is well-suited to investigate the genetics of cardiac aging. Flies age rapidly over the course of weeks, benefit from many tools to easily manipulate their genome, and their heart has significant genetic and phenotypic similarities to the human heart. Here, we performed a cardiac-specific gene expression study on aging Drosophila and carried out a comparative meta-analysis with published rodent data...
February 2017: Aging Cell
https://www.readbyqxmd.com/read/28090516/the-interplay-between-genetics-epigenetics-and-environment-in-modulating-the-risk-of-coronary-heart-disease
#17
EDITORIAL
Giuseppe Lippi, Gianfranco Cervellin
No abstract text is available yet for this article.
December 2016: Annals of Translational Medicine
https://www.readbyqxmd.com/read/28089339/discovery-of-a-murine-model-of-clinical-pah-mission-impossible
#18
REVIEW
Zhiyu Dai, You-Yang Zhao
Pulmonary arterial hypertension (PAH) is a lung vascular disease characterized with a progressive increase of pulmonary vascular resistance and obliterative pulmonary vascular remodeling resulting in right heart failure and premature death. In this brief review, we document the recent advances in identifying genetically modified murine models of PH, with a focus on the recent discovery of the mouse model of Tie2 Cre-mediated deletion of prolyl hydroxylase 2, which exhibits progressive obliterative vascular remodeling, severe PAH, and right heart failure, thus recapitulating many of the features of clinical PAH...
December 15, 2016: Trends in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28089252/practical-approaches-for-whole-genome-sequence-analysis-of-heart-and-blood-related-traits
#19
Alanna C Morrison, Zhuoyi Huang, Bing Yu, Ginger Metcalf, Xiaoming Liu, Christie Ballantyne, Josef Coresh, Fuli Yu, Donna Muzny, Elena Feofanova, Navin Rustagi, Richard Gibbs, Eric Boerwinkle
Whole-genome sequencing (WGS) allows for a comprehensive view of the sequence of the human genome. We present and apply integrated methodologic steps for interrogating WGS data to characterize the genetic architecture of 10 heart- and blood-related traits in a sample of 1,860 African Americans. In order to evaluate the contribution of regulatory and non-protein coding regions of the genome, we conducted aggregate tests of rare variation across the entire genomic landscape using a sliding window, complemented by an annotation-based assessment of the genome using predefined regulatory elements and within the first intron of all genes...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28088893/intervention-for-cardiac-repair-a-clinical-perspective
#20
Hui Na Tan, Zhe Yuan Tay, Boon Seng Soh
Cardiovascular disease remains the leading cause of death worldwide. Damage to the heart resulting from cardiovascular disease leads to gradual loss of function and reduced quality of life. Cardiac injury is particularly debilitating, more so than injury to any other organ given our current inability to either generate new and functional cardiac tissue or to mimic the actions of the heart using external devices. Advances in the field of stem cells and genetics have paved the way for the development of a variety of novel therapies...
January 12, 2017: Current Stem Cell Research & Therapy
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