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https://www.readbyqxmd.com/read/28530119/update-in-sleep-disordered-breathing-2016
#1
Najib T Ayas, Luciano F Drager, Mary J Morrell, Vsevolod Y Polotsky
The field of sleep disordered breathing has continued to evolve with many important articles published in the last year. In this review, we have summarized some of the key articles relevant to sleep disordered breathing that have been published in the Journal and selected articles published elsewhere in the last year; these have included landmark randomized trials concerning sleep apnea treatment in the prevention of adverse cardiac outcomes, basic science and animal studies, genetic studies, and analyses of epidemiologic cohorts...
May 21, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28528724/twelve-lead-ambulatory-electrocardiographic-monitoring-in-brugada-syndrome-potential-diagnostic-and-prognostic-implications
#2
Belinda Gray, Adrienne Kirby, Peter Kabunga, Saul B Freedman, Laura Yeates, Ajita Kanthan, Caroline Medi, Anthony Keech, Christopher Semsarian, Raymond W Sy
BACKGROUND: Patients with Brugada syndrome (BrS) are diagnosed and risk stratified on the basis of a spontaneous or drug-induced type 1 electrocardiographic (ECG) pattern, often at single time points not accounting for variation throughout the day. OBJECTIVES: The purpose of this study was to prospectively assess the overall burden of type 1 Brugada ECG changes using 12-lead 24-hour Holter monitoring and evaluate association with cardiac events. METHODS: From July 1, 2013 to December 31, 2015, patients with BrS were recruited from 3 Australian centers and the Australian Genetic Heart Disease Registry...
June 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28527921/drug-induced-fatal-arrhythmias-acquired-long-qt-and-brugada-syndromes
#3
REVIEW
Isik Turker, Tomohiko Ai, Hideki Itoh, Minoru Horie
Since the early 1990s, the concept of primary "inherited" arrhythmia syndromes or ion channelopathies has evolved rapidly as a result of revolutionary progresses made in molecular genetics. Alterations in genes coding for membrane proteins such as ion channels or their associated proteins responsible for the generation of cardiac action potentials (AP) have been shown to cause specific malfunctions which eventually lead to cardiac arrhythmias. These arrhythmic disorders include congenital long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, short QT syndrome, progressive cardiac conduction disease, etc...
May 17, 2017: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28527814/desmoplakin-missense-and-non-missense-mutations-in-arrhythmogenic-right-ventricular-cardiomyopathy-genotype-phenotype-correlation
#4
Silvia Castelletti, Annina S Vischer, Petros Syrris, Lia Crotti, Carla Spazzolini, Alice Ghidoni, Gianfranco Parati, Sharon Jenkins, Maria-Christina Kotta, William J McKenna, Peter J Schwartz, Antonis Pantazis
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is traditionally considered as primarily affecting the right ventricle. Mutations in genes encoding desmosomal proteins account for 40-60% of cases. Genotype-phenotype correlations are scant and mostly non gene-specific. Accordingly, we assessed the genotype-phenotype correlation for desmoplakin (DSP) missense and non-missense mutations causing ARVC. METHODS AND RESULTS: We analyzed 27 ARVC patients carrying a missense or a non-missense DSP mutation, with complete clinical assessment...
May 10, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28526149/pharmacogenomics-in-anesthesia
#5
REVIEW
Ramsey Saba, Alan D Kaye, Richard D Urman
A significant number of commonly administered medications in anesthesia show wide clinical interpatient variability. Some of these include neuromuscular blockers, opioids, local anesthetics, and inhalation anesthetics. Individual genetic makeup may account for and predict cardiovascular outcomes after cardiac surgery. These interactions can manifest at any point in the perioperative period and may also only affect a specific system. A better understanding of pharmacogenomics will allow for more individually tailored anesthetics and may ultimately lead to better outcomes, decreased hospital stays, and improved patient satisfaction...
June 2017: Anesthesiology Clinics
https://www.readbyqxmd.com/read/28525397/an-unusual-case-of-sudden-death-is-there-a-relationship-between-thyroid-disorders-and-fatal-pulmonary-thromboembolism-a-case-report-and-review-of-literature
#6
Isabella Aquila, Silvia Boca, Fiorella Caputo, Matteo A Sacco, Santo Gratteri, Vittorio Fineschi, Pietrantonio Ricci
In adults, the most common cause of sudden death is coronary heart disease or defects in the cardiac conduction system; however, there are many cases of sudden death occurring from other causes such as fatal pulmonary thromboembolism. Several risk factors are recognized, including hospitalization, surgery, obesity, pregnancy, the use of oral contraceptives, traumatic fractures, and genetic conditions, which cause hypercoagulable states such as factor V Leiden mutations. Although many risk factors have been identified, the mortality rate is still high...
May 19, 2017: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/28522356/association-between-matrix-metaloproteinases-2-1306c-t-polymorphism-and-the-risk-of-coronary-artery-disease-in-iranian-population
#7
Mahshid Sattari, Maryam Hassanzad, Seyed Hamid Jamaldini, Alireza Najafi, Mahdieh Imani, Mohammadreza Mohammadhassani, Mandana Hasanzad
BACKGROUND: Coronary Artery Disease (CAD) represents the most important cause of sudden cardiac death. Interaction between genetic and environmental factors, individual susceptibility of the development of CAD is one of the MMP2 genes. Genetic variants' dysfunction of the MMP2 gene associated with the risk of CAD. The aim of the present study is to assess possible association between risk of Coronary Artery Disease and MMP2-1306C/T polymorphism. METHODS: This case-control study contains a total number of 344 subjects, including 215 patients with CAD and 129 of controls...
May 6, 2017: Pathophysiology: the Official Journal of the International Society for Pathophysiology
https://www.readbyqxmd.com/read/28522145/wnt-signaling-a-novel-pathway-regulating-blood-pressure-state-of-the-art-review
#8
REVIEW
Maen D Abou Ziki, Arya Mani
Recent antihypertensive trials show conflicting results on blood pressure (BP) targets in patient populations with different metabolic profiles, with lowest benefit from tight BP control observed in patients with type 2 diabetes mellitus. This paradox could arise from the heterogeneity of study populations and underscores the importance of precision medicine initiatives towards understanding and treating hypertension. Wnt signaling pathways and genetic variations in its signaling peptides have been recently associated with metabolic syndrome, hypertension and diabetes, generating a breakthrough for advancement of precision medicine in the field of hypertension...
May 4, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28521775/genome-wide-association-study-of-subclinical-interstitial-lung-disease-in-mesa
#9
Ani Manichaikul, Xin-Qun Wang, Li Sun, Josée Dupuis, Alain C Borczuk, Jennifer N Nguyen, Ganesh Raghu, Eric A Hoffman, Suna Onengut-Gumuscu, Emily A Farber, Joel D Kaufman, Dan Rabinowitz, Karen D Hinckley Stukovsky, Steven M Kawut, Gary M Hunninghake, George R Washko, George T O'Connor, Stephen S Rich, R Graham Barr, David J Lederer
BACKGROUND: We conducted a genome-wide association study (GWAS) of subclinical interstitial lung disease (ILD), defined as high attenuation areas (HAA) on CT, in the population-based Multi-Ethnic Study of Atherosclerosis Study. METHODS: We measured the percentage of high attenuation areas (HAA) in the lung fields on cardiac CT scan defined as voxels with CT attenuation values between -600 and -250 HU. Genetic analyses were performed in MESA combined across race/ethnic groups: non-Hispanic White (n = 2,434), African American (n = 2,470), Hispanic (n = 2,065) and Chinese (n = 702), as well as stratified by race/ethnicity...
May 18, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28521630/isolated-ventricular-noncompaction-cardiomyopathy-presenting-as-fetal-hydrops-at-24-weeks-gestation
#10
Jane E Armes, Lisa Squires, Rohan Lourie, Mark Williams, Renee Gallagher, Gareth Price, Andrew Stubbs, Sigrid Ma Swagemakers, Peter J van der Spek, James Harraway, Joseph Thomas, Deon J Venter
Ventricular noncompaction cardiomyopathy is a rare form of congenital cardiomyopathy with increasing evidence of genetic etiology, especially when presenting in childhood. Fetal presentation is rare. We describe a case of fetal hydrops, presenting at 24 weeks gestation and leading to intrapartum death at 26 weeks gestation. Autopsy examination revealed characteristic features of left ventricular noncompaction. A genetic analysis identified a constellation of variants of unknown significance in MYH6, TNNC1, and MYBPC3, genes known to be important in sarcomeric function...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28521548/mitochondrial-dna-heteroplasmy-in-cardiac-tissue-from-individuals-with-and-without-coronary-artery-disease
#11
Erik Hefti, Javier Guillermo Blanco
The cellular environment associated with coronary artery disease (CAD) can lead to mitochondrial DNA (mtDNA) damage. Mitochondrial variants in some copies of mtDNA (heteroplasmy) and mtDNA content are potential genetic biomarkers for CAD-associated disease states. Massively parallel sequencing and qRT-PCR techniques were used to measure heteroplasmic variants and mtDNA content in heart samples from donors with (n = 8) and without (n = 7) documented CAD. Both groups showed increased numbers of heteroplasmic mtDNA variants in the control region (CR) (p < ...
May 19, 2017: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
https://www.readbyqxmd.com/read/28521042/induced-pluripotent-stem-cell-modelling-of-hlhs-underlines-the-contribution-of-dysfunctional-notch-signalling-to-impaired-cardiogenesis
#12
Chunbo Yang, Yaobo Xu, Min Yu, David Lee, Sameer Alharti, Nicola Hellen, Noor Ahmad Shaik, Babajan Banaganapalli, Hussein Ali Mohamoud Sheikh, Elango Ramu, Stefan Przyborski, Gennadiy Tenin, Simon Williams, John O'Sullivan, Osman O Al-Radi, Jameel Atta, Sian E Harding, Bernard Keavney, Majlinda Lako, Lyle Armstrong
Hypoplastic left heart syndrome (HLHS) is among the most severe forms of congenital heart disease. Although the consensus view is that reduced flow through the left heart during development is a key factor in the development of the condition, the molecular mechanisms leading to hypoplasia of left heart structures are unknown. We have generated induced pluripotent stem cells (iPSC) from five HLHS patients and two unaffected controls, differentiated these to cardiomyocytes and identified reproducible in vitro cellular and functional correlates of the HLHS phenotype...
May 17, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28516907/vagal-determinants-of-exercise-capacity
#13
Asif Machhada, Stefan Trapp, Nephtali Marina, Robert C M Stephens, John Whittle, Mark F Lythgoe, Sergey Kasparov, Gareth L Ackland, Alexander V Gourine
Indirect measures of cardiac vagal activity are strongly associated with exercise capacity, yet a causal relationship has not been established. Here we show that in rats, genetic silencing of the largest population of brainstem vagal preganglionic neurons residing in the brainstem's dorsal vagal motor nucleus dramatically impairs exercise capacity, while optogenetic recruitment of the same neuronal population enhances cardiac contractility and prolongs exercise endurance. These data provide direct experimental evidence that parasympathetic vagal drive generated by a defined CNS circuit determines the ability to exercise...
May 18, 2017: Nature Communications
https://www.readbyqxmd.com/read/28512313/a-rapid-capillary-pressure-driven-micro-channel-to-demonstrate-newtonian-fluid-behavior-of-zebrafish-blood-at-high-shear-rates
#14
Juhyun Lee, Tzu-Chieh Chou, Dongyang Kang, Hanul Kang, Junjie Chen, Kyung In Baek, Wei Wang, Yichen Ding, Dino Di Carlo, Yu-Chong Tai, Tzung K Hsiai
Blood viscosity provides the rheological basis to elucidate shear stress underlying developmental cardiac mechanics and physiology. Zebrafish is a high throughput model for developmental biology, forward-genetics, and drug discovery. The micro-scale posed an experimental challenge to measure blood viscosity. To address this challenge, a microfluidic viscometer driven by surface tension was developed to reduce the sample volume required (3μL) for rapid (<2 min) and continuous viscosity measurement. By fitting the power-law fluid model to the travel distance of blood through the micro-channel as a function of time and channel configuration, the experimentally acquired blood viscosity was compared with a vacuum-driven capillary viscometer at high shear rates (>500 s(-1)), at which the power law exponent (n) of zebrafish blood was nearly 1 behaving as a Newtonian fluid...
May 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28512290/evolution-of-drug-resistant-acinetobacter-baumannii-after-dcd-renal-transplantation
#15
Hong Jiang, Luxi Cao, Lihui Qu, Tingting Qu, Guangjun Liu, Rending Wang, Bingjue Li, Yuchen Wang, Chaoqun Ying, Miao Chen, Yingying Lu, Shi Feng, Yonghong Xiao, Junwen Wang, Jianyong Wu, Jianghua Chen
Infection after renal transplantation remains a major cause of morbidity and death, especially infection from the extensively drug-resistant bacteria, A. baumannii. A total of fourteen A. baumannii isolates were isolated from the donors' preserved fluid from DCD (donation after cardiac death) renal transplantation and four isolates in the recipients' draining liquid at the Kidney Disease Center, The First Affiliated Hospital, College of Medicine, Zhejiang University, from March 2013 to November 2014. An outbreak of A...
May 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28511797/deficiency-of-liver-x-receptor-%C3%AE-reduces-glucose-uptake-and-worsens-remodeling-after-myocardial-infarction
#16
Qingqi Ji, Yichao Zhao, Ancai Yuan, Jun Pu, Ben He
Liver X receptor α (LXRα) is an endogenous protective receptor against ischemic heart diseases, and its beneficial effects have been associated with the regulation of lipid metabolism in heart. However, whether LXRα regulated glucose metabolism in ischemic heart diseases has not been investigated. In this study we investigated the involvement of LXRα on glucose metabolism in cardiac remodeling after myocardial infarction (MI). MI was induced in mice by permanent ligation of the left anterior descending coronary artery (LCA)...
May 13, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28511407/gerbode-ventricular-septal-defect-a-rare-cardiac-anomaly-associated-with-genetic-variants-in-indian-population-a-case-series
#17
Yashvanthi Borkar, Krishnananda Nayak, Ranjan K Shetty, Gopalakrishna Bhat, Rajasekhar Moka
Gerbode defects are rare Ventricular Septal Defects (VSD) constituting approximately one percent cases of congenital heart diseases. The genetic predispositions towards the Gerbode Defect (GD) have remained an unexplored area of study till date. We investigated the genotype-phenotype correlation in patients with Gerbode VSD. Molecular genetic study on Sanger sequencing and subsequent data analysis showed that the contributing sequence variations in the NKX2-5, GATA4 and TBX5 gene lies in one of the highly conserved regions and this region is responsible for encoding a functional protein...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28511069/ischaemic-preconditioning-current-knowledge-and-potential-future-applications-after-30-years-of-experience
#18
REVIEW
Karolina Stokfisz, Anna Ledakowicz-Polak, Maciej Zagorski, Marzenna Zielinska
Ischaemic preconditioning (IPC) phenomenon has been known for thirty years. During that time several studies showed that IPC provided by brief ischaemic and reperfusion episodes prior to longer ischaemia can bestow a protective effect to both preconditioned and also remote organs. IPC affecting remote organs is called remote ischaemic preconditioning. Initially, most IPC studies were focused on enhancing myocardial resistance to subsequent ischaemia and reperfusion injury. However, preconditioning was found to be a universal phenomenon and was observed in various organs and tissues including the heart, liver, brain, retina, kidney, skeletal muscles and intestine...
May 13, 2017: Advances in Medical Sciences
https://www.readbyqxmd.com/read/28510718/multimodality-imaging-in-restrictive-cardiomyopathies-an-eacvi-expert-consensus-document-in-collaboration-with-the-working-group-on-myocardial-and-pericardial-diseases-of-the-european-society-of-cardiology-endorsed-by-the-indian-academy-of-echocardiography
#19
Gilbert Habib, Chiara Bucciarelli-Ducci, Alida L P Caforio, Nuno Cardim, Philippe Charron, Bernard Cosyns, Aurélie Dehaene, Genevieve Derumeaux, Erwan Donal, Marc R Dweck, Thor Edvardsen, Paola Anna Erba, Laura Ernande, Oliver Gaemperli, Maurizio Galderisi, Julia Grapsa, Alexis Jacquier, Karin Klingel, Patrizio Lancellotti, Danilo Neglia, Alessia Pepe, Pasquale Perrone-Filardi, Steffen E Petersen, Sven Plein, Bogdan A Popescu, Patricia Reant, L Elif Sade, Erwan Salaun, Riemer H J A Slart, Christophe Tribouilloy, Jose Zamorano
Restrictive cardiomyopathies (RCMs) are a diverse group of myocardial diseases with a wide range of aetiologies, including familial, genetic and acquired diseases and ranging from very rare to relatively frequent cardiac disorders. In all these diseases, imaging techniques play a central role. Advanced imaging techniques provide important novel data on the diagnostic and prognostic assessment of RCMs. This EACVI consensus document provides comprehensive information for the appropriateness of all non-invasive imaging techniques for the diagnosis, prognostic evaluation, and management of patients with RCM...
May 16, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28510119/genetic-epidemiology-of-titin-truncating-variants-in-the-etiology-of-dilated-cardiomyopathy
#20
REVIEW
Ali M Tabish, Valerio Azzimato, Aris Alexiadis, Byambajav Buyandelger, Ralph Knöll
Heart failure (HF) is a complex clinical syndrome defined by the inability of the heart to pump enough blood to meet the body's metabolic demands. Major causes of HF are cardiomyopathies (diseases of the myocardium associated with mechanical and/or electrical dysfunction), among which the most common form is dilated cardiomyopathy (DCM). DCM is defined by ventricular chamber enlargement and systolic dysfunction with normal left ventricular wall thickness, which leads to progressive HF. Over 60 genes are linked to the etiology of DCM...
May 5, 2017: Biophysical Reviews
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