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https://www.readbyqxmd.com/read/28548091/cellular-interplay-via-cytokine-hierarchy-causes-pathological-cardiac-hypertrophy-in-raf1-mutant-noonan-syndrome
#1
Jiani C Yin, Mathew J Platt, Xixi Tian, Xue Wu, Peter H Backx, Jeremy A Simpson, Toshiyuki Araki, Benjamin G Neel
Noonan syndrome (NS) is caused by mutations in RAS/ERK pathway genes, and is characterized by craniofacial, growth, cognitive and cardiac defects. NS patients with kinase-activating RAF1 alleles typically develop pathological left ventricular hypertrophy (LVH), which is reproduced in Raf1(L613V/+) knock-in mice. Here, using inducible Raf1(L613V) expression, we show that LVH results from the interplay of cardiac cell types. Cardiomyocyte Raf1(L613V) enhances Ca(2+) sensitivity and cardiac contractility without causing hypertrophy...
May 26, 2017: Nature Communications
https://www.readbyqxmd.com/read/28548023/membranous-ventricular-septal-aneurysm-in-a-black-tailed-prairie-dog-cynomys-ludovicianus
#2
Timothy K Cooper
Ventricular septal defects are one of the most common congenital cardiac malformations in animals, and most often affect the membranous portion of the septum. These defects may rarely close spontaneously. An adult male black-tailed prairie dog ( Cynomys ludovicianus) had a smooth shiny botryoid red mass arising from the area of the septal cusp of the right atrioventricular (tricuspid) valve and membranous interventricular septum, and bulging into the right ventricular lumen. Histology and special staining demonstrated a membranous ventricular septal defect closed by the adherence of the septal cusp of the tricuspid valve to the muscular septum (so-called membranous ventricular septal aneurysm or aneurysm of the [peri]membranous ventricular septum)...
May 1, 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/28546535/a-novel-prkag2-mutation-in-a-chinese-family-with-cardiac-hypertrophy-and-ventricular-pre-excitation
#3
Kun-Qi Yang, Chao-Xia Lu, Ying Zhang, Yan-Kun Yang, Jia-Cheng Li, Tian Lan, Xu Meng, Peng Fan, Tao Tian, Lin-Ping Wang, Ya-Xin Liu, Xue Zhang, Xian-Liang Zhou
PRKAG2 syndrome is a rare autosomal dominant inherited disorder that is characterized by cardiac hypertrophy, ventricular pre-excitation and conduction system abnormalities. There is little knowledge in cardiovascular magnetic resonance (CMR) characteristics of PRKAG2 cardiomyopathy. This study investigated the genetic defect in a three-generation Chinese family with cardiac hypertrophy and ventricular pre-excitation using whole-exome sequencing. A novel missense mutation, c.1006 G > T (p.V336L), was identified in PRKAG2...
May 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28545623/genetic-determinants-of-hereditary-bradyarrhythmias-a-contemporary-review-of-a-diverse-group-of-disorders
#4
REVIEW
Saman Rezazadeh, Henry J Duff
Bradyarrhythmia is a common clinical presentation. Although the majority of cases are acquired, genetic screening of families with bradyarrhythmia has led to the discovery of a growing number of causative hereditary mutations. These mutations can interfere with any of the steps required for the occurrence of each cardiac cycle, including generation of an action potential in the sinoatrial node, successful exit of the action potential from the node, propagation of the action potential throughout the atria until the depolarization waves reach the atrioventricular node, and finally transmission of the action potential to the ventricles through the His-Purkinje system...
June 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28545044/differentiation-of-spontaneously-contracting-cardiomyocytes-from-non-virally-reprogrammed-human-amniotic-fluid-stem-cells
#5
Aaron J Velasquez-Mao, Christopher J M Tsao, Madeline N Monroe, Xavier Legras, Beatrice Bissig-Choisat, Karl-Dimiter Bissig, Rodrigo Ruano, Jeffrey G Jacot
Congenital heart defects are the most common birth defect. The limiting factor in tissue engineering repair strategies is an autologous source of functional cardiomyocytes. Amniotic fluid contains an ideal cell source for prenatal harvest and use in correction of congenital heart defects. This study aims to investigate the potential of amniotic fluid-derived stem cells (AFSC) to undergo non-viral reprogramming into induced pluripotent stem cells (iPSC) followed by growth-factor-free differentiation into functional cardiomyocytes...
2017: PloS One
https://www.readbyqxmd.com/read/28544620/phenotyping-cardiac-and-structural-birth-defects-in-fetal-and-newborn-mice
#6
REVIEW
Xiaoqin Liu, Andrew J Kim, William Reynolds, Yijen Wu, Cecilia W Lo
Mouse models are invaluable for investigating the developmental etiology and molecular pathogenesis of structural birth defects. While this has been deployed for studying a wide spectrum of birth defects, mice are particularly valuable for modeling congenital heart disease, given they have the same four-chamber cardiac anatomy as in humans. We have developed the use of noninvasive fetal ultrasound together with micro-computed tomography (micro-CT) imaging for high throughput phenotyping of mice for congenital heart defects (CHD) and other developmental anomalies...
May 22, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28544057/interventional-closure-of-a-patent-ductus-arteriosus-using-an-amplatz-canine-duct-occluder-in-an-alpaca-cria
#7
E C Chapel, J Lozier, J Lakritz, K E Schober
A 6-month old female alpaca cria presented to The Ohio State University for evaluation of a cardiac murmur. Echocardiography revealed a left-to-right shunting patent ductus arteriosus, a restrictive left-to-right shunting perimembranous ventricular septal defect, and secondary moderate left atrial and ventricular dilation. Aortic root angiography demonstrated a type IIA patent ductus arteriosus (PDA). Interventional closure of the PDA was successfully performed, without complication, using an Amplatz canine duct occluder...
May 24, 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28542428/age-dependent-electrical-and-morphological-remodeling-of-the-drosophila-heart-caused-by-herg-seizure-mutations
#8
Karen Ocorr, Alexander Zambon, Yoav Nudell, Santiago Pineda, Soda Diop, Min Tang, Takeshi Akasaka, Erika Taylor
Understanding the cellular-molecular substrates of heart disease is key to the development of cardiac specific therapies and to the prevention of off-target effects by non-cardiac targeted drugs. One of the primary targets for therapeutic intervention has been the human ether a go-go (hERG) K+ channel that, together with the KCNQ channel, controls the rate and efficiency of repolarization in human myocardial cells. Neither of these channels plays a major role in adult mouse heart function; however, we show here that the hERG homolog seizure (sei), along with KCNQ, both contribute significantly to adult heart function as they do in humans...
May 19, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28542142/deletion-of-pdcd5-in-mice-led-to-the-deficiency-of-placenta-development-and-embryonic-lethality
#9
Ge Li, Chentong Xu, Xin Lin, Liujing Qu, Dan Xia, Beiqi Hongdu, Yan Xia, Xiaokun Wang, Yaxin Lou, Qihua He, Dalong Ma, Yingyu Chen
Programmed cell death 5 (PDCD5) is an apoptosis promoter molecule that displays multiple biological activities. However, the function of PDCD5 in vivo has not yet been investigated. Here, we generated a Pdcd5 knockout mouse model to study the physiological role of PDCD5 in vivo. Knockout of the Pdcd5 gene resulted in embryonic lethality at mid-gestation. Histopathological analysis revealed dysplasia in both the LZs and JZs in Pdcd5(-/-) placentas with defects in spongiotrophoblasts and trophoblast giant cells...
May 25, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28541271/protein-altering-and-regulatory-genetic-variants-near-gata4-implicated-in-bicuspid-aortic-valve
#10
Bo Yang, Wei Zhou, Jiao Jiao, Jonas B Nielsen, Michael R Mathis, Mahyar Heydarpour, Guillaume Lettre, Lasse Folkersen, Siddharth Prakash, Claudia Schurmann, Lars Fritsche, Gregory A Farnum, Maoxuan Lin, Mohammad Othman, Whitney Hornsby, Anisa Driscoll, Alexandra Levasseur, Marc Thomas, Linda Farhat, Marie-Pierre Dubé, Eric M Isselbacher, Anders Franco-Cereceda, Dong-Chuan Guo, Erwin P Bottinger, G Michael Deeb, Anna Booher, Sachin Kheterpal, Y Eugene Chen, Hyun Min Kang, Jacob Kitzman, Heather J Cordell, Bernard D Keavney, Judith A Goodship, Santhi K Ganesh, Gonçalo Abecasis, Kim A Eagle, Alan P Boyle, Ruth J F Loos, Per Eriksson, Jean-Claude Tardif, Chad M Brummett, Dianna M Milewicz, Simon C Body, Cristen J Willer
Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 BAV cases and 4,660 age, sex and ethnicity-matched controls with replication in up to 1,326 cases and 8,103 controls. We identify association with a noncoding variant 151 kb from the gene encoding the cardiac-specific transcription factor, GATA4, and near-significance for p.Ser377Gly in GATA4. GATA4 was interrupted by CRISPR-Cas9 in induced pluripotent stem cells from healthy donors...
May 25, 2017: Nature Communications
https://www.readbyqxmd.com/read/28540212/infarct-characterization-using-ct
#11
REVIEW
Ludovico La Grutta, Patrizia Toia, Erica Maffei, Filippo Cademartiri, Roberto Lagalla, Massimo Midiri
Myocardial infarction (MI) is a major cause of death and disability worldwide. The incidence is not expected to diminish, despite better prevention, diagnosis and treatment, because of the ageing population in industrialized countries and unhealthy lifestyles in developing countries. Nowadays it is highly requested an imaging tool able to evaluate MI and viability. Technology improvements determined an expansion of clinical indications from coronary plaque evaluation to functional applications (perfusion, ischemia and viability after MI) integrating additional phases and information in the mainstream examination...
April 2017: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/28539208/birth-weight-length-and-head-circumference-progression-and-impact-over-the-outcome-of-patients-with-congenital-heart-disease
#12
Daniélle Bernardi Silveira, Ernani Bohrer da Rosa, Jamile Dutra Correia, Patrícia Trevisan, Marilu Fiegenbaum, Ceres Andréia Oliveira, Carolina Geitens Grapiglia, Mauricio Rouvel Nunes, Rosana Cardoso Manique Rosa, Tatiana Diehl Zen, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa
BACKGROUND: There are few studies assessing the birth measures of patients with congenital heart disease (CHD). Our aim to evaluate their progression and impact over the outcome. METHODS: The cases consisted of patients with CHD during their first hospitalization in a reference cardiac and pediatric intensive care unit (ICU) from Southern Brazil. Controls were composed of patients with no clinical evidence of CHD hospitalized soon after cases. The cases underwent high-resolution karyotype and fluorescence in situ hybridization (FISH) for 22q11 microdeletion...
May 18, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28539207/effect-of-maternal-age-and-cardiac-disease-severity-on-outcome-of-pregnancy-in-women-with-congenital-heart-disease
#13
Eva Furenäs, Peter Eriksson, Ulla-Britt Wennerholm, Mikael Dellborg
BACKGROUND: There is an increasing prevalence of women with congenital heart defects reaching childbearing age. In western countries women tend to give birth at a higher age compared to some decades ago. We evaluated the CARdiac disease in PREGnancy (CARPREG) and modified World Health Organization (mWHO) risk classifications for cardiac complications during pregnancies in women with congenital heart defects and analyzed the impact of age on risk of obstetric and fetal outcome. METHODS: A single-center observational study of cardiac, obstetric, and neonatal complications with data from cardiac and obstetric records of pregnancies in women with congenital heart disease...
May 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28539128/impaired-cardiac-output-during-exercise-in-adults-operated-for-ventricular-septal-defect-in-childhood-a-hitherto-unrecognised-pathophysiological-response
#14
Benjamin Asschenfeldt, Johan Heiberg, Steffen Ringgaard, Marie Maagaard, Andrew Redington, Vibeke E Hjortdal
BACKGROUND: Recent studies have demonstrated that surgical ventricular septal defect closure in childhood is associated with reduced functional capacity and disruption of the right ventricular force-frequency relationship during exercise. To further describe long-term cardiac function, we performed a non-invasive assessment of cardiac index during exercise in adults having undergone surgery for ventricular septal defect in early childhood. METHODS: A total of 20 patients (surgical age 2...
May 25, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28538394/123i-ioflupane-brain-spect-and-123i-mibg-cardiac-planar-scintigraphy-combined-use-in-uncertain-parkinsonian-disorders
#15
Susanna Nuvoli, Angela Spanu, Maria Rita Piras, Antonio Nieddu, Aldo Mulas, Gaia Rocchitta, Grazia Galleri, Pier Andrea Serra, Giuseppe Madeddu
We evaluated the clinical usefulness of the combined use of I-ioflupane brain single photon emission computed tomography (SPECT) and I-metaiodobenzylguanidine (MIBG) cardiac scintigraphy in discriminating uncertain parkinsonism with vascular lesions in striatal nuclei at magnetic resonance imaging (MRI). Forty-three consecutive patients with uncertain parkinsonism and vascular lesions at MRI in striatal nuclei were retrospectively evaluated; the uncertain differential diagnosis was between Parkinson's disease and vascular parkinsonism (PD/VP) in 22 patients, between PD and other neurodegenerative parkinsonism (PD/PS) in 11 patients and between Lewy body dementia and Alzheimer disease (LBD/AD) in the remaining 10 cases...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28538105/linezolid-induced-lactic-acidosis-the-thin-line-between-bacterial-and-mitochondrial-ribosomes
#16
Alessandro Santini, Dario Ronchi, Manuela Garbellini, Daniela Piga, Alessandro Protti
Introduction - Linezolid inhibits bacterial growth by targeting bacterial ribosomes and by interfering with bacterial protein synthesis. Lactic acidosis is a rare, but potentially lethal, side effect of linezolid. Areas covered - The pathogenesis of linezolid-induced lactic acidosis is reviewed with special emphasis on aspects relevant to the recognition, prevention and treatment of the syndrome. Expert opinion - Linezolid-induced lactic acidosis reflects the untoward interaction between the drug and mitochondrial ribosomes...
May 24, 2017: Expert Opinion on Drug Safety
https://www.readbyqxmd.com/read/28537039/investigation-of-dose-reduction-in-cardiac-perfusion-spect-via-optimization-and-choice-of-the-image-reconstruction-strategy
#17
Albert Juan Ramon, Yongyi Yang, P Hendrik Pretorius, Piotr J Slomka, Karen L Johnson, Michael A King, Miles N Wernick
BACKGROUND: We investigated the extent to which the administered dose (activity) level can be reduced without sacrificing diagnostic accuracy for three reconstruction strategies for SPECT-myocardial perfusion imaging (MPI). METHODS: We optimized the parameters of the three reconstruction strategies for perfusion-defect detection over a range of simulated administered dose levels using a set of hybrid studies (derived from 190 subjects) consisting of clinical SPECT-MPI data modified to contain realistic simulated lesions...
May 23, 2017: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/28535430/dilated-azygos-arch-mimicking-an-aortic-arch-anomaly-during-thoracic-surgery
#18
Ingrid Anne Mandy Schierz, Ettore Piro, Mario Giuffrè, Giuseppa Pinello, Giovanni Corsello
Cardiovascular malformations are frequently associated in patients with esophageal atresia (EA). We observed azygos continuation mimicking an aortic arch anomaly in four newborns with type III EA. They presented concomitant rib anomalies indicating a common developmental defect. Foreknowledge is important for planning thoracotomy or interventional cardiac catheterization in this population.
May 20, 2017: Early Human Development
https://www.readbyqxmd.com/read/28529009/assembly-defects-of-multiple-respiratory-chain-complexes-in-a-child-with-cardiac-hypertrophy-associated-with-a-novel-acad9-mutation
#19
Konstantina Fragaki, Annabelle Chaussenot, Audrey Boutron, Sylvie Bannwarth, Cecile Rouzier, Brigitte Chabrol, Veronique Paquis-Flucklinger
Patients carrying Acyl-CoA dehydrogenase 9 (ACAD9) mutations reported to date mainly present with severe hypertrophic cardiomyopathy and isolated complex I (CI) dysfunction. Here we report a novel ACAD9 mutation in a young girl presenting with severe hypertrophic cardiomyopathy, isolated CI deficiency and interestingly multiple respiratory chain complexes assembly defects. We show that ACAD9 analysis has to be performed in first intention in patients presenting with cardiac hypertrophy even in the presence of multiple assembly defects...
May 4, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28527961/major-aortopulmonary-collateral-arteries-with-anatomy-other-than-pulmonary-atresia-ventricular-septal-defect
#20
William L Patrick, Richard D Mainwaring, Olaf Reinhartz, Rajesh Punn, Theresa Tacy, Frank L Hanley
BACKGROUND: Major aortopulmonary collateral arteries (MAPCAs) are frequently found in association with pulmonary atresia with ventricular septal defect (PA/VSD). However, some patients with MAPCAs do not have PA/VSD but have a variety of other "atypical" anatomic diagnoses. METHODS: This was a retrospective review of patients with MAPCAs and atypical anatomy. The 50 patients with MAPCAs could be divided into two subgroups: (1) single ventricle anatomy (n = 33) and (2) two ventricle anatomy (n = 17)...
May 17, 2017: Annals of Thoracic Surgery
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