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https://www.readbyqxmd.com/read/29029707/epidemiology-pathophysiology-stratification-and-natural-history-of-pulmonary-embolism
#1
Nicholas J Giordano, Paul S Jansson, Michael N Young, Kaitlin A Hagan, Christopher Kabrhel
Pulmonary embolism (PE) is a common and potentially fatal form of venous thromboembolism that can be challenging to diagnose and manage. PE occurs when there is obstruction of the pulmonary vasculature and is a common cause of morbidity and mortality in the United States. A combination of acquired and inherited factors may contribute to the development of this disease and should be considered, since they have implications for both susceptibility to PE and treatment. Patients with suspected PE should be evaluated efficiently to diagnose and administer therapy as soon as possible, but the presentation of PE is variable and nonspecific so diagnosis is challenging...
September 2017: Techniques in Vascular and Interventional Radiology
https://www.readbyqxmd.com/read/29029165/depicting-new-pharmacological-strategies-for-familial-hypercholesterolaemia-involving-lipoprotein-a
#2
Alpo Vuorio, Gerald F Watts, Petri T Kovanen
Approximately 35 million people worldwide suffer from heterozygous familial hypercholesterolaemia (HeFH), a condition characterized by genetically determined life-long elevation of plasma low-density lipoprotein cholesterol (LDL-C). One in three of these patients also inherit an elevated plasma concentration of lipoprotein (a) [Lp(a)], a lipoprotein particle with atherogenic, inflammatory and prothrombotic properties. Accordingly, the combination of high plasma LDL-C and Lp(a) can markedly accelerate premature atherosclerotic cardiovascular disease (ASCVD)...
October 3, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29027470/next-generation-sequencing-applications-for-cardiovascular-disease
#3
Samira Kalayinia, Hamidreza Goodarzynejad, Majid Maleki, Nejat Mahdieh
The Human Genome Project (HGP), as the primary sequencing of the human genome, lasted more than one decade to be completed using the traditional Sanger's method. At present, next-generation sequencing (NGS) technology could provide the genome sequence data in hours. NGS has also decreased the expense of sequencing; therefore, nowadays it is possible to carry out both whole-genome (WGS) and whole-exome sequencing (WES) for the variations detection in patients with rare genetic diseases as well as complex disorders such as common cardiovascular diseases (CVDs)...
October 13, 2017: Annals of Medicine
https://www.readbyqxmd.com/read/28982505/sports-cardiology-core-curriculum-for-providing-cardiovascular-care-to-competitive-athletes-and-highly-active-people
#4
REVIEW
Aaron L Baggish, Robert W Battle, James G Beckerman, Alfred A Bove, Rachel J Lampert, Benjamin D Levine, Mark S Link, Matthew W Martinez, Silvana M Molossi, Jack Salerno, Meagan M Wasfy, Rory B Weiner, Michael S Emery
The last few decades have seen substantial growth in the populations of competitive athletes and highly active people (CAHAP). Although vigorous physical exercise is an effective way to reduce the risk of cardiovascular (CV) disease, CAHAP remain susceptible to inherited and acquired CV disease, and may be most at risk for adverse CV outcomes during intense physical activity. Traditionally, multidisciplinary teams comprising athletic trainers, physical therapists, primary care sports medicine physicians, and orthopedic surgeons have provided clinical care for CAHAP...
October 10, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28972856/cardiac-actin-changes-in-the-actomyosin-interface-have-different-effects-on-myosin-duty-ratio
#5
Haidun Liu, Mary Evelyn Henein, Maria Anillo, John F Dawson
Hypertrophic cardiomyopathy (HCM) is an inherited cardiovascular disease (CD) that commonly causes an increased size of cardiomyocytes in the left ventricle. The proteins myosin and actin interact in the myocardium to produce contraction through the actomyosin ATPase cycle. The duty ratio (<i>r</i>) of myosin is the proportion of the actomyosin ATPase cycle that myosin is bound to actin and does work. A common hypothesis is that HCM mutations increase contraction in cardiac sarcomeres; however, the available data is not clear on this connection...
October 3, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/28969085/interleukin-27-polymorphisms-are-associated-with-premature-coronary-artery-disease-and-metabolic-parameters-in-the-mexican-population-the-genetics-of-atherosclerotic-disease-gea-mexican-study
#6
Rosalinda Posadas-Sánchez, Nonanzit Pérez-Hernández, José Manuel Rodríguez-Pérez, Ramón M Coral-Vázquez, Bladimir Roque-Ramírez, Luis Llorente, Guadalupe Lima, Carmina Flores-Dominguez, Teresa Villarreal-Molina, Carlos Posadas-Romero, Gilberto Vargas-Alarcón
Several studies suggest an important role of Interleukin-27 in the development of atherosclerosis. The aim of this study was to establish whether the IL-27p28 gene polymorphisms are associated with premature coronary artery disease and/or other cardiovascular risk factors. Four IL-27p28 gene polymorphisms were selected and genotyped in 1162 premature coronary artery disease cases and 1107 controls. rs26528 T and rs40837 A alleles were significantly associated with a lower risk of premature coronary artery disease under different inheritance models (Pdominant = 0...
September 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28957862/triglyceride-lowering-trials
#7
Anthony C Keech, Alicia J Jenkins
PURPOSE OF REVIEW: We provide an overview of current evidence about the independent role of high triglyceride levels for cardiovascular risk and for acute pancreatitis. RECENT FINDINGS: Natural experiments of Mendelian randomization have given us a deeper understanding about the molecular pathways involved in triglyceride metabolism. Individuals with low-triglyceride levels generally have lower rates of cardiovascular disease (CVD). There has been a significant growth in the development of new agents that modulate enzymes involved in a variety of aspects of triglyceride packaging into VLDL or chylomicron particles, and triglyceride catabolism...
September 27, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28957414/red-blood-cell-distribution-width-genetic-evidence-for-aging-pathways-in-116-666-volunteers
#8
Luke C Pilling, Janice L Atkins, Michael O Duff, Robin N Beaumont, Samuel E Jones, Jessica Tyrrell, Chia-Ling Kuo, Katherine S Ruth, Marcus A Tuke, Hanieh Yaghootkar, Andrew R Wood, Anna Murray, Michael N Weedon, Lorna W Harries, George A Kuchel, Luigi Ferrucci, Timothy M Frayling, David Melzer
INTRODUCTION: Variability in red blood cell volumes (distribution width, RDW) increases with age and is strongly predictive of mortality, incident coronary heart disease and cancer. We investigated inherited genetic variation associated with RDW in 116,666 UK Biobank human volunteers. RESULTS: A large proportion RDW is explained by genetic variants (29%), especially in the older group (60+ year olds, 33.8%, <50 year olds, 28.4%). RDW was associated with 194 independent genetic signals; 71 are known for conditions including autoimmune disease, certain cancers, BMI, Alzheimer's disease, longevity, age at menopause, bone density, myositis, Parkinson's disease, and age-related macular degeneration...
2017: PloS One
https://www.readbyqxmd.com/read/28946037/familial-hypercholesterolemia-in-primary-care-in-germany-diabetes-and-cardiovascular-risk-evaluation-targets-and-essential-data-for-commitment-of-treatment-detect-study
#9
Nina Schmidt, Burkhard Schmidt, Alexander Dressel, Ingrid Gergei, Jens Klotsche, Lars Pieper, Hubert Scharnagl, Marcus E Kleber, Winfried März, Hendrik Lehnert, David Pittrow, Günter Stalla, Hans-Ulrich Wittchen, Tanja B Grammer
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is an inherited disorder of lipoprotein metabolism characterised by impaired removal of low-density lipoproteins (LDL) from the circulation, which leads to an increased risk of cardiovascular disease (CVD). This risk can be significantly lowered by early diagnosis and treatment. In Germany, reliable estimates of the prevalence of FH are lacking. We therefore examined the prevalence rate of FH in Germany in a primary care based cohort...
August 19, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28945738/formation-of-a-tbx20-casz1-protein-complex-is-protective-against-dilated-cardiomyopathy-and-critical-for-cardiac-homeostasis
#10
Leslie Kennedy, Erin Kaltenbrun, Todd M Greco, Brenda Temple, Laura E Herring, Ileana M Cristea, Frank L Conlon
By the age of 40, one in five adults without symptoms of cardiovascular disease are at risk for developing congestive heart failure. Within this population, dilated cardiomyopathy (DCM) remains one of the leading causes of disease and death, with nearly half of cases genetically determined. Though genetic and high throughput sequencing-based approaches have identified sporadic and inherited mutations in a multitude of genes implicated in cardiomyopathy, how combinations of asymptomatic mutations lead to cardiac failure remains a mystery...
September 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28944857/a-novel-fbn1-mutation-causes-autosomal-dominant-marfan-syndrome
#11
Ying Xiao, Xiaoqi Liu, Xiaoxin Guo, Liping Liu, Linxin Jiang, Qi Wang, Bo Gong
Marfan syndrome (MFS) is an inherited and systemic disorder. It has been reported that mutations in the fibrillin‑1 gene (FBN1) account for ~90% of autosomal dominant cases of MFS. This study was conducted to screen mutations of FBN1 in a Chinese family with autosomal dominant MFS; four individuals including two patients with MFS were recruited. The family members underwent complete physical, cardiovascular and ophthalmologic examinations. Genomic DNA samples were collected from the family along with 383 unrelated healthy subjects...
November 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28923712/il-15-polymorphisms-are-associated-with-subclinical-atherosclerosis-and-cardiovascular-risk-factors-the-genetics-of-atherosclerosis-disease-gea-mexican-study
#12
Javier Angeles-Martínez, Rosalinda Posadas-Sánchez, Nonanzit Pérez-Hernández, José Manuel Rodríguez-Pérez, José Manuel Fragoso, Eyerahi Bravo-Flores, Carlos Posadas-Romero, Gilberto Vargas-Alarcón
Interleukin IL-15 (IL-15) has been implicated in the development of coronary artery disease (CAD). The aim of the present study was to evaluate the role of IL-15 gene polymorphisms as susceptibility markers for development of subclinical atherosclerosis (SA) and cardiovascular risk factors in Mexican population. Four IL-15 gene polymorphisms (rs4956403, rs3806798, rs1057972 and rs10833) were analyzed in a group of 397 individuals with SA and 1120 controls. Under different inheritance models adjusted by traditional risk factors, the rs10833T allele was associated with increased risk of developing SA [OR=1...
September 15, 2017: Cytokine
https://www.readbyqxmd.com/read/28915894/cardiovascular-risk-in-patients-with-alpha-1-antitrypsin-deficiency
#13
Sebastian Fähndrich, Frank Biertz, Annika Karch, Björn Kleibrink, Armin Koch, Helmut Teschler, Tobias Welte, Hans-Ulrich Kauczor, Sabina Janciauskiene, Rudolf A Jörres, Timm Greulich, Claus F Vogelmeier, Robert Bals
BACKGROUND: Alpha-1-antitrypsin deficiency (AATD) is a rare inherited condition caused by mutations of the SERPINA1 gene that is associated with the development of a COPD like lung disease. The comorbidities in patients with AATD-related lung diseases are not well defined. The aim of this study was to analyze the clinical phenotype of AATD patients within the German COPD cohort study COSYCONET ("COPD and SYstemic consequences-COmorbidities NETwork") cohort focusing on the distribution of comorbidities...
September 15, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28914857/-characteristics-of-lipid-metabolism-and-the-cardiovascular-system-in-glycogenosis-types-i-and-iii
#14
N V Polenova, T V Strokova, A V Starodubova
Glycogen storage disease (GSD) is an inherited metabolic disorder characterized by early childhood lipid metabolic disturbances with potentially proatherogenic effects. The review outlines the characteristics of impaired lipid composition and other changes in the cardiovascular system in GSD types I and III. It analyzes the factors enabling and inhibiting the development of atherosclerosis in patients with GSD. The review describes the paradox of vascular resistance to the development of early atherosclerosis despite the proatherogenic composition of lipids in the patients of this group...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28913817/return-to-play-in-2017-and-the-role-of-shared-decision-making-in-patients-with-inherited-and-acquired-channelopathies-and-cardiomyopathies
#15
REVIEW
Kia Afshar, T Jared Bunch
Shared decision-making is based upon a physician-patient encounter in which there is adequate education using aids if needed, a mutual discussion of how to assist the patient in weighing risks and benefits, and a supportive environment that allows the patient to deliberate on the clinical decision and make their own choice. This decision-making paradigm centers on the principles of autonomy and self-determination. Physical activity is a critical part of healthy lifestyle choices that helps lower risk of cardiovascular disease or the progression of it...
September 14, 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28912339/reproductive-and-metabolic-features-during-puberty-in-sons-of-women-with-polycystic-ovary-syndrome
#16
Nicolás Crisosto, Bárbara Echiburú, Manuel Maliqueo, Marta Luchsinger, Pedro Rojas, Sergio Recabarren, Teresa Sir-Petermann
CONTEXT: Intrauterine life may be implicated in the origin of polycystic ovary syndrome (PCOS) modifying the endocrine and metabolic functions of children born to PCOS mothers independently of the genetic inheritance and gender. The aim of the present study was to evaluate the reproductive and metabolic functions in sons of women with PCOS during puberty. METHODS: Sixty-nine PCOS sons (PCOSs) and 84 control sons of 7-18 years old matched by the Tanner stage score were studied...
November 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28912179/classification-epidemiology-and-global-burden-of-cardiomyopathies
#17
REVIEW
William J McKenna, Barry J Maron, Gaetano Thiene
In the past 25 years, major advances were achieved in the nosography of cardiomyopathies, influencing the definition and taxonomy of this important chapter of cardiovascular disease. Nearly, 50% of patients dying suddenly in childhood or adolescence or undergoing cardiac transplantation are affected by cardiomyopathies. Novel cardiomyopathies have been discovered (arrhythmogenic, restrictive, and noncompacted) and added to update the World Health Organization classification. Myocarditis has also been named inflammatory cardiomyopathy...
September 15, 2017: Circulation Research
https://www.readbyqxmd.com/read/28868092/the-spectrum-of-familial-hypercholesterolemia-fh-in-saudi-arabia-prime-time-for-patient-fh-registry
#18
REVIEW
Faisal Alallaf, Fatima Amanullah H Nazar, Majed Alnefaie, Adel Almaymuni, Omran Mohammed Rashidi, Khalid Alhabib, Fahad Alnouri, Mohamed-Nabil Alama, Mohammad Athar, Zuhier Awan
BACKGROUND: Familial hypercholesterolemia (FH) is a life-threatening inherited condition. Untreated patients have the risk to develop raised plasma levels of cholesterol, atherosclerosis and cardiovascular disease (CVD). If diagnosed and treated early in life, the pathological consequences due to atherosclerosis could be avoided and patients with FH can have an anticipated normal life. Mounting evidence suggests that FH is underdiagnosed and undertreated in all populations. The underlying molecular basis of FH is the presence of mutations in one or more genes in the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB) or proprotein convertase subtilisin/kexin 9 (PCSK9)...
2017: Open Cardiovascular Medicine Journal
https://www.readbyqxmd.com/read/28845875/-cardiologists-and-mucopolysaccharidoses-recommendations-of-gicem-cardiology-experts-on-metabolic-disease-italian-group-for-diagnosis-follow-up-and-cardiological-management
#19
Pierluigi Russo, Generoso Andria, Alessandra Baldinelli, Maria Lucia Boffi, Emma Cerini, Roberto Della Casa, Andrea Imperatori, Giovanni Battista Luciani, Elisa Morra, Rossella Parini, Maurizio Pieroni, Maria Antonia Prioli, Luca Ragni, Claudio Rapezzi, Gabriele Rinelli, Marta Rubino, Cristiano Sarais, Pietro Sciacca, Francesco Seddio, Giuseppe Limongelli
Mucopolysaccharidoses (MPS) represent a group of rare lysosomal storage disorders, with a heterogeneous clinical presentation in terms of inheritance (autosomal and X-linked recessive), age of onset (infants, children, and adults), systemic and cardiac manifestations (mild to severe disease forms). Evidence-based recommendations on the diagnosis and management of cardiovascular disease in MPS are scarce. GICEM (Gruppo Italiano Cardiologi Esperti Malattie Metaboliche) is a group of cardiologists, cardiac surgeons and pediatricians with a specific expertise in metabolic diseases including MPS...
September 2017: Giornale Italiano di Cardiologia
https://www.readbyqxmd.com/read/28829203/gender-related-issues-in-thrombosis-and-hemostasis
#20
Anne-Mette Hvas, Emmanuel J Favaloro
Many aspects of hemostasis, both primary and secondary, as well as fibrinolysis display sex differences. From a clinical viewpoint, certain differential phenotypic presentations clearly arise within various disorders of thrombosis and hemostasis. Areas covered: The present mini-review summarizes selected clinical entities where sex differences are reflected in both frequency and clinical presentation of hemostasis disorders. Sex differences are discussed within the settings of cardiovascular disease, including coronary artery disease and ischemic stroke, venous thromboembolism and inherited bleeding disorders...
August 30, 2017: Expert Review of Hematology
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