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https://www.readbyqxmd.com/read/29173988/non-compaction-cardiomyopathy-a-short-review-of-a-controversial-entity
#1
REVIEW
Rebeca Lorca, José Rozado, María Martín
Non-compaction cardiomyopathy is a heterogeneous and complex entity concerning which there are still many doubts to be resolved. While the American Heart Association includes it among genetic cardiomyopathies, the European Society of Cardiology treats it as an unclassified cardiomyopathy. It may present in a sporadic or familial form, isolated or associated with other heart diseases, affecting only the left ventricle or both and can sometimes appear as a mixed phenotype in patients with other cardiomyopathies...
November 22, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/29146485/in-frame-variants-in-flna-proximal-rod-1-domain-associate-with-a-predominant-cardiac-valvular-phenotype
#2
Luis Fernández, Jair Tenorio, Coral Polo-Vaquero, Elena Vallespín, María Palomares-Bralo, Sixto García-Miñaúr, Fernando Santos-Simarro, Pedro Arias, Hernán Carnicer, Silvina Giannivelli, Juan Medina, Rosa Pérez-Piaya, Jorge Solís, Mónica Rodríguez, Alexandra Villagrá, Laura Rodríguez, Julián Nevado, Víctor Martínez-Glez, Karen E Heath, Pablo Lapunzina
INTRODUCTION AND OBJECTIVES: X-linked cardiac valvular dysplasia is a rare form of male-specific congenital heart defect mainly characterized by myxomatous degeneration of the atrioventricular valves with variable hemodynamic consequences. It is caused by genetic defects in FLNA-encoded filamin A, a widely expressed actin-binding protein that regulates cytoskeleton organization. Filamin A loss of function has also been associated with often concurring neurologic and connective tissue manifestations, with mutations in the first half of the Rod 1 domain apparently expressing the full cardiac phenotype...
November 13, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29133215/myocardial-infarction-and-gut-microbiota-an-incidental-connection
#3
REVIEW
Sepideh Zununi Vahed, Abolfazl Barzegari, Marisol Zuluaga, Didier Letourneur, Graciela Pavon-Djavid
Myocardial infarction (MI) is the main cause of cardiovascular crises that entails serious concerns in mortality, morbidity, and cost to the society. The main therapeutic goal of modern cardiology is to develop novel approaches to minimize inflammation, myocardial necrosis/apoptosis, and enhance cardiac repair after MI. Though MI can be affected by genetic and environmental factors, the search for targeting lifestyle factors has been of greater interest. One such potential factor is the microbiota, the human intestinal microbial community...
November 10, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/29095976/lamin-a-c-cardiomyopathy-young-onset-high-penetrance-and-frequent-need-for-heart-transplantation
#4
Nina Eide Hasselberg, Trine Fink Haland, Jørg Saberniak, Pål Haugar Brekke, Knut Erik Berge, Trond Paul Leren, Thor Edvardsen, Kristina Hermann Haugaa
Aims: Lamin A/C (LMNA) mutations cause familial dilated cardiomyopathy (DCM) with frequent conduction blocks and arrhythmias. We explored the prevalence, cardiac penetrance, and expressivity of LMNA mutations among familial DCM in Norway. Furthermore, we explored the risk factors and the outcomes in LMNA patients. Methods and results: During 2003-15, genetic testing was performed in patients referred for familial DCM. LMNA genotype-positive subjects were examined by electrocardiography, Holter monitoring, cardiac magnetic resonance imaging, and echocardiography...
October 31, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29079493/is-adenosine-associated-with-sudden-death-in-schizophrenia-a-new-framework-linking-the-adenosine-pathway-to-risk-of-sudden-death
#5
REVIEW
Ary Gadelha, André Zugman, Mariana Bendlin Calzavara, Remo Holanda de Mendonça Furtado, Fulvio Alexandre Scorza, Rodrigo Afonsecca Bressan
Schizophrenia is associated with an increased mortality from cardiovascular disease. Relatively few studies have assessed the putative association of schizophrenia pathophysiology with sudden death. Low adenosine levels have been associated with schizophrenia. In cardiology, increased mortality among patients with congestive heart failure has been associated with genetic polymorphisms that potentially lead to lower adenosine levels. Thus, we hypothesize that adenosine could link schizophrenia and cardiovascular mortality, with decreased adenosine levels leading to increased vulnerability to hyperexcitability following hypoxic insults, increasing the odds of fatal arrhythmias...
October 24, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/29067974/telomere-length-as-a-potential-biomarker-of-coronary-artery-disease
#6
REVIEW
Joyeeta Bhattacharyya, Keichiro Mihara, Deborshi Bhattacharjee, Manjarí Mukherjee
Coronary artery disease (CAD) is a multifactorial disease whose prevalence remains unabated especially in developing countries. Both lifestyle factors and genetic predisposition contribute to this disorder. Though notable achievements have been made in the medical, interventional and surgical management of CAD, the need for its prevention is more important. Among other modalities, this calls for defining evidence-based new biomarkers, which on their own or in combination with other known biomarkers may predict the risk of CAD to enable institution of appropriate preventive strategies...
June 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/29064067/stem-cells-in-regenerative-cardiology
#7
Semih Arbatlı, Galip Servet Aslan, Fatih Kocabaş
The common prevalence of heart failure and limitations in its treatment are leading cause of attention and interest towards the induction of cardiac regeneration with novel approaches. Recent studies provide growing evidence regarding bona fide cardiac regeneration post genetic manipulations, administration of stimulatory factors and myocardial injuries in animal models and human studies. To this end, stem cells of different sources have been tested to treat heart failure for the development of cellular therapies...
October 25, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29033513/the-endothelial-nitric-oxide-synthase-nos3-786t-c-genetic-polymorphism-in-chronic-heart-failure-effects-of-mutant-786c-allele-on-long-term-mortality
#8
Sait Terzi, Ayşe Emre, Kemal Yesilcimen, Selçuk Yazıcı, Aysun Erdem, Ufuk Sadik Ceylan, Figen Ciloglu
BACKGROUND: Nitric oxide plays an important role in the regulation of basal vascular tone and cardiac myocyte function. We investigated the NOS3-786T>C polymorphism in chronic heart failure (CHF) and its effects on long-term mortality. METHODS: Ninety-one patients with CHF who were referred to the Department of Cardiology of Siyami Ersek Cardiovascular and Thoracic Surgery Center for cardiopulmonary exercise testing between April 2001 and January 2004 and 30 controls were enrolled in this study...
July 2017: Acta Cardiologica Sinica
https://www.readbyqxmd.com/read/29016939/molecular-autopsy-of-sudden-unexplained-deaths-reveals-genetic-predispositions-for-cardiac-diseases-among-young-forensic-cases
#9
Nicole Hellenthal, Anna Gaertner-Rommel, Bärbel Klauke, Lech Paluszkiewicz, Markus Stuhr, Thoralf Kerner, Martin Farr, Klaus Püschel, Hendrik Milting
Aims: Coronary artery disease accounts for the majority of sudden cardiac deaths (SCD) in the older population whereas cardiomyopathies and arrhythmogenic abnormalities predominate in younger SCD victims (<35 years) with a significant genetic component. The elucidation of the pathogenetic cause of death might be relevant for the prevention of further deaths within affected families. Aim of this study was to determine the portion of underlying genetic heart diseases among unexplained putative SCD cases from a large German forensic department...
November 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28986455/genomic-triangulation-and-coverage-analysis-in-whole-exome-sequencing-based-molecular-autopsies
#10
Garrett W Shanks, David J Tester, Sneha Nishtala, Jared M Evans, Michael J Ackerman
BACKGROUND: WEMA (Whole-Exome Molecular Autopsy) and surveillance of cardiac channelopathy and cardiomyopathy genes represents the latest molecular autopsy for sudden death in the young (SDY). To date, the majority of WEMA has been performed on the SDY case only. METHODS AND RESULTS: We performed whole-exome sequencing and nucleotide-level coverage analysis on 28 SDY cases (18.4±7.8 years) and their parents to determine the inheritance patterns of ultrarare, nonsynonymous variants in 99 sudden death-susceptibility genes...
October 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28984111/dysfunctional-lamins-as-mediators-of-oxidative-stress-in-emery-dreifuss-muscular-dystrophy
#11
Irena Niebroj-Dobosz, Beata Sokołowska, Agnieszka Madej-Pilarczyk, Michał Marchel, Irena Hausmanowa-Petrusewicz
Deficit of lamin A/C or emerin causes genetically transmitted Emery-Dreifuss muscular dystrophy (EDMD). As lamins are considered to be mediators of oxidative stress, the antioxidant/oxidant status was examined. The total oxidant/antioxidant status in serum was examined in 29 cases of Emery-Dreifuss muscular dystrophy. The study included 12 autosomal-dominant laminopathies (AD-EDMD), 17 X-linked emerinopathies (X-EDMD) and 20 age-matched normal subjects. Total oxidant status (TOS) was reduced in all cases, and the total antioxidant capacity (TAC) was found to be decreased in the majority of the patients (in 82...
2017: Folia Neuropathologica
https://www.readbyqxmd.com/read/28984030/epigenetics-for-the-pediatric-cardiologist
#12
Andrew D Spearman
A genetic basis of congenital heart disease (CHD) has been known for decades. In addition to the sequence of the genome, the contribution of epigenetics to pediatric cardiology is increasingly recognized. Multiple epigenetic mechanisms, including DNA methylation, histone modification, and RNA-based regulation, are known mediators of cardiovascular disease, including both development and progression of CHD and its sequelae. Basic understanding of the concepts of epigenetics will be essential to all pediatric cardiologists in order to understand mechanisms of pathophysiology, pharmacotherapeutic concepts, and to understand the role of epigenetics in precision medicine...
October 5, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28971649/-rambam-where-medicine-technology-and-humanity-intertwine
#13
Rafael Beyar
In this issue, we present a series of articles written by Rambam's physicians, which reflect the scope of research that takes place in the hospital. This incorporates physicians, nurses and related professions, and progress in health care attained through research and technology-based medicine. A central part of our values is a combination of medicine, technology and humanity. Thanks to our unique location in close proximity to the Technion's Baruch and Ruth Rappaport Faculty of Medicine, our commitment to the combination of research and medicine has a unique impact...
September 2017: Harefuah
https://www.readbyqxmd.com/read/28949844/when-bins-blur-patient-perspectives-on-categories-of-results-from-clinical-whole-genome-sequencing
#14
Leila Jamal, Jill O Robinson, Kurt D Christensen, Jennifer Blumenthal-Barby, Melody J Slashinski, Denise Lautenbach Perry, Jason L Vassy, Julia Wycliff, Robert C Green, Amy L McGuire
BACKGROUND: Clinical genome and exome sequencing (CGES) is being used in an expanding range of clinical settings. Most approaches to offering patients choices about learning CGES results classify results according to expert definitions of clinical actionability. Little is known about how patients conceptualize different categories of CGES results. METHODS: The MedSeq Project is a randomized controlled trial studying the use of whole-genome sequencing (WGS) in primary care and cardiology...
April 2017: AJOB Empirical Bioethics
https://www.readbyqxmd.com/read/28948327/abnormal-longitudinal-growth-of-the-aorta-in-children-with-familial-bicuspid-aortic-valve
#15
Holly Nadorlik, Jessica L Bowman, Sara Fitzgerald-Butt, May Ling Mah, Kim L McBride, John P Kovalchin, Vidu Garg
Bicuspid aortic valve (BAV) is the most common type of congenital heart defect (CHD) and is associated with clinically significant cardiovascular complications including valve calcification and ascending aortopathy (AscAo), predominantly occurring in adulthood. While a limited number of genetic etiologies for BAV have been defined, family members of affected individuals display BAV along with other left-sided CHD. This has led to guidelines from the American Heart Association and American College of Cardiology that recommend echocardiographic screening of first-degree relatives of affected adults...
December 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28933368/biomarkers-and-imaging-findings-of-anderson-fabry-disease-what-we-know-now
#16
REVIEW
Idalina Beirão, Ana Cabrita, Márcia Torres, Fernando Silva, Patrício Aguiar, Francisco Laranjeira, Ana Marta Gomes
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature on biomarkers and imaging findings of AFD patients. An extensive bibliographic review from PubMed, Medline and Clinical Key databases was performed by a group of experts from nephrology, neurology, genetics, cardiology and internal medicine, aiming for consensus...
June 11, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28898880/personalized-management-of-cardiovascular-disorders
#17
Kewal K Jain
Personalized management of cardiovascular disorders (CVDs), also referred to as personalized or precision cardiology in accordance with general principles of personalized medicine, is the selection of best treatment for an individual patient. It involves the integration of various 'omics' technologies such as genomics and proteomics as well as other new technologies such as nanobiotechnology. Molecular diagnostics and biomarkers are important for linking diagnosis with therapy and monitoring of therapy. Because CVDs involve perturbations of large complex biological networks, a systems biology approach to CVD risk stratification may be used for improving risk-estimating algorithms and modeling of personalized benefit-of-treatment may be helpful for guiding choice of intervention...
September 11, 2017: Medical Principles and Practice: International Journal of the Kuwait University, Health Science Centre
https://www.readbyqxmd.com/read/28888913/the-renaissance-of-lipoprotein-a-brave-new-world-for-preventive-cardiology
#18
REVIEW
Katrina L Ellis, Michael B Boffa, Amirhossein Sahebkar, Marlys L Koschinsky, Gerald F Watts
Lipoprotein(a) [Lp(a)] is a highly heritable cardiovascular risk factor. Although discovered more than 50 years ago, Lp(a) has recently re-emerged as a major focus in the fields of lipidology and preventive cardiology owing to findings from genetic studies and the possibility of lowering elevated plasma concentrations with new antisense therapy. Data from genetic, epidemiological and clinical studies have provided compelling evidence establishing Lp(a) as a causal risk factor for atherosclerotic cardiovascular disease...
October 2017: Progress in Lipid Research
https://www.readbyqxmd.com/read/28886926/2017-focused-update-of-the-2016%C3%A2-acc%C3%A2-expert-consensus-decision-pathway-on-the-role-of-non-statin-therapies-for-ldl-cholesterol-lowering-in%C3%A2-the-management-of-atherosclerotic-cardiovascular-disease-risk-a-report-of-the-american-college-of-cardiology-task-force
#19
Donald M Lloyd-Jones, Pamela B Morris, Christie M Ballantyne, Kim K Birtcher, David D Daly, Sondra M DePalma, Margo B Minissian, Carl E Orringer, Sidney C Smith
In 2016, the American College of Cardiology published the first expert consensus decision pathway (ECDP) on the role of non-statin therapies for low-density lipoprotein (LDL)-cholesterol lowering in the management of atherosclerotic cardiovascular disease (ASCVD) risk. Since the publication of that document, additional evidence and perspectives have emerged from randomized clinical trials and other sources, particularly considering the longer-term efficacy and safety of proprotein convertase subtilisin/kexin 9 (PCSK9) inhibitors in secondary prevention of ASCVD...
October 3, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28883714/vascular-aging-and-subclinical-atherosclerosis-why-such-a-never-ending-and-challenging-story-in-cardiology
#20
EDITORIAL
Stela Iurciuc, Anca Maria Cimpean, Florin Mitu, Rodica Heredea, Mircea Iurciuc
The true onset of atherosclerosis remains one of the biggest challenges for cardiologists. Is atheroma plaque development considered the earliest step of vascular aging? If so, when it starts? Before or after birth? If it starts before birth or early during childhood, it seems that Thomas Sydenham was right: "A man is as old as his arteries." Except disorganization of elastic fibers, less is known about the morphology of vascular aging and also about the molecular events influencing the age of arteries, arterial stiffness, and their role in the appearance of future complications...
2017: Clinical Interventions in Aging
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