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https://www.readbyqxmd.com/read/28429242/genetics-of-dyslipidemia-and-ischemic-heart-disease
#1
REVIEW
Kavita Sharma, Ragavendra R Baliga
PURPOSE OF REVIEW: Genetic dyslipidemias contribute to the prevalence of ischemic heart disease. The field of genetic dyslipidemias and their influence on atherosclerotic heart disease is rapidly developing and accumulating increasing evidence. The purpose of this review is to describe the current state of knowledge in regard to inherited atherogenic dyslipidemias. The disorders of familial hypercholesterolemia (FH) and elevated lipoprotein(a) will be detailed. Genetic technology has made rapid advancements, leading to new discoveries in inherited atherogenic dyslipidemias, which will be explored in this review, as well as a description of possible future developments...
May 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28415768/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
#2
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...
March 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28405938/genetic-architecture-of-familial-hypercholesterolaemia
#3
REVIEW
Mahtab Sharifi, Marta Futema, Devaki Nair, Steve E Humphries
PURPOSE OF REVIEW: Familial hypercholesterolaemia (FH) is an inherited disorder of low-density lipoprotein cholesterol (LDL-C) which is characterised by a raised cholesterol level from birth and a high risk of premature coronary heart disease. In this paper, we review the genetic basis of FH and its impact on the clinical presentation. RECENT FINDINGS: Mutations in any of three genes (LDLR, APOB and PCSK9) are known to cause autosomal dominant FH, but a mutation can be found in only ∼40% of patients with a clinical diagnosis of FH...
May 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28395882/should-studies-on-glanzmann-thrombasthenia-not-be-telling-us-more-about-cardiovascular-disease-and-other-major-illnesses
#4
REVIEW
Alan T Nurden
Glanzmann thrombasthenia (GT) is a rare inherited bleeding disorder caused by loss of αIIbβ3 integrin function in platelets. Most genetic variants of β3 also affect the widely expressed αvβ3 integrin. With brief mention of mouse models, I now look at the consequences of disease-causing ITGA2B and ITGB3 mutations on the non-hemostatic functions of platelets and other cells. Reports of arterial thrombosis in GT patients are rare, but other aspects of cardiovascular disease do occur including deep vein thrombosis and congenital heart defects...
April 4, 2017: Blood Reviews
https://www.readbyqxmd.com/read/28391878/autosomal-dominant-familial-dysbetalipoproteinemia-a-pathophysiological-framework-and-practical-approach-to-diagnosis-and-therapy
#5
REVIEW
Charlotte Koopal, A David Marais, Jan Westerink, Frank L J Visseren
Familial dysbetalipoproteinemia (FD) is a genetic disorder of lipoprotein metabolism associated with an increased risk for premature cardiovascular disease. In about 10% of the cases, FD is caused by autosomal dominant mutations in the apolipoprotein E gene (APOE). This review article provides a pathophysiological framework for autosomal dominant FD (ADFD) and discusses diagnostic challenges and therapeutic options. The clinical presentation and diagnostic work-up of ADFD are illustrated by two cases: a male with premature coronary artery disease and a p...
January 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28389321/cardiovascular-gene-therapy-past-present-and-future
#6
REVIEW
Seppo Ylä-Herttuala, Andrew H Baker
Cardiovascular diseases remain a large global health problem. Although several conventional small-molecule treatments are available for common cardiovascular problems, gene therapy is a potential treatment option for acquired and inherited cardiovascular diseases that remain with unmet clinical needs. Among potential targets for gene therapy are severe cardiac and peripheral ischemia, heart failure, vein graft failure, and some forms of dyslipidemias. The first approved gene therapy in the Western world was indicated for lipoprotein lipase deficiency, which causes high plasma triglyceride levels...
April 4, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28385783/bleeding-risk-of-surgery-and-its-prevention-in-patients-with-inherited-platelet-disorders-the-surgery-in-platelet-disorders-and-therapeutic-approach-spata-study
#7
Sara Orsini, Patrizia Noris, Loredana Bury, Paula G Heller, Cristina Santoro, Rezan A Kadir, Nora C Butta, Emanuela Falcinelli, Ana Rosa Cid, Fabrizio Fabris, Marc Fouassier, Koji Miyazaki, Maria Luisa Lozano, Pamela Zuñiga, Claire Flaujac, Gian Marco Podda, Nuria Bermejo, Remi Favier, Yvonne Henskens, Emmanuel De Maistre, Erica De Candia, Andrew D Mumford, Nihal G Ozdemir, Ibrahim Eker, Paquita Nurden, Sophie Bayart, Michele P Lambert, James Bussel, Barbara Zieger, Alberto Tosetto, Federica Melazzini, Ana C Glembotsky, Alessandro Pecci, Marco Cattaneo, Nicole Schlegel, Paolo Gresele
Excessive bleeding at surgery is a feared complication in patients with inherited platelet disorders (IPD), however very few studies have evaluated the frequency of surgical bleeding in these hemorrhagic disorders. We performed a multicentric, retrospective worldwide study to assess the bleeding complications of surgery, the preventive and therapeutic approaches adopted and their efficacy in patients with IPDs by rating the outcome of 829 surgical procedures carried out in 423 patients with well defined forms of IPD (238 inherited platelet function disorders -IPFD- and 185 inherited platelet number disorders-IPND-)...
April 6, 2017: Haematologica
https://www.readbyqxmd.com/read/28383843/-marfan-syndrome-in-childhood-and-adolescence
#8
S Magotteaux, S Bulk, N Farhat, N Sakalihasan, J-O Defraigne, M-Ch Seghaye
The Marfan syndrome is a systemic connective tissue disorder with autosomal dominant inheritance. A mutation of the fibrillin-1 gene, a glycoprotein which is the main constituent of the extracellular matrix, is the cause of the disease. The cardinal features involve the skeletal, ocular and cardiovascular systems. The expression of the Marfan syndrome varies from the severe neonatal presentation to the classical manifestations of the child and young adult, but also comprises isolated features. In children, phenotypical manifestations are age dependent...
July 2016: Revue Médicale de Liège
https://www.readbyqxmd.com/read/28383515/abc-transport-proteins-in-cardiovascular-disease-a-brief-summary
#9
REVIEW
Toni Schumacher, Ralf A Benndorf
Adenosine triphosphate (ATP)-binding cassette (ABC) transporters may play an important role in the pathogenesis of atherosclerotic vascular diseases due to their involvement in cholesterol homeostasis, blood pressure regulation, endothelial function, vascular inflammation, as well as platelet production and aggregation. In this regard, ABC transporters, such as ABCA1, ABCG5 and ABCG8, were initially found to be responsible for genetically-inherited syndromes like Tangier diseases and sitosterolemia. These findings led to the understanding of those transporter's function in cellular cholesterol efflux and thereby also linked them to atherosclerosis and cardiovascular diseases (CVD)...
April 6, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28373160/genetic-analysis-of-venous-thromboembolism-in-uk-biobank-identifies-the-zfpm2-locus-and-implicates-obesity-as-a-causal-risk-factor
#10
Derek Klarin, Connor A Emdin, Pradeep Natarajan, Mark F Conrad, Sekar Kathiresan
BACKGROUND: UK Biobank is the world's largest repository for phenotypic and genotypic information for individuals of European ancestry. Here, we leverage UK Biobank to understand the inherited basis for venous thromboembolism (VTE), a leading cause of cardiovascular mortality. METHODS AND RESULTS: We identified 3290 VTE cases and 116 868 controls through billing code-based phenotyping. We performed a genome-wide association study for VTE with ≈9 000 000 imputed single-nucleotide polymorphisms...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28372944/histone-demethylases-kdm6ba-and-kdm6bb-redundantly-promote-cardiomyocyte-proliferation-during-zebrafish-heart-ventricle-maturation
#11
Alexander A Akerberg, Astra Henner, Scott Stewart, Kryn Stankunas
Trimethylation of lysine 27 on histone 3 (H3K27me3) by the Polycomb repressive complex 2 (PRC2) contributes to localized and inherited transcriptional repression. Kdm6b (Jmjd3) is a H3K27me3 demethylase that can relieve repression-associated H3K27me3 marks, thereby supporting activation of previously silenced genes. Kdm6b is proposed to contribute to early developmental cell fate specification, cardiovascular differentiation, and/or later steps of organogenesis, including endochondral bone formation and lung development...
March 31, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28369730/genetics-of-hypertrophic-cardiomyopathy-a-review-of-current-state
#12
REVIEW
María Sabater-Molina, Inmaculada Pérez-Sánchez, Juan Pedro Hernández Del Rincón, Juan R Gimeno
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease. HCM is a highly complex and heterogeneous disease regarding not only the number of associated mutations, but also the severity of phenotype, symptom burden, and the risk of complications, like heart failure and sudden death. The penetrance is incomplete and it is age and gender dependent. It is accepted as a disease of the sarcomere. Sixty percent of HCM cases carry mutations in one of eight sarcomere protein genes, mainly non-sense MYBPC3 and missense MYH7 variants...
April 3, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28332701/the-epigenetic-landscape-related-to-reactive-oxygen-species-formation-in-the-cardiovascular-system
#13
REVIEW
Thomas Kietzmann, Andreas Petry, Antonina Shvetsova, Joachim M Gerhold, Agnes Görlach
Cardiovascular diseases are the leading cause of death worldwide. Reactive oxygen species (ROS) can act as damaging molecules but also represent central hubs in cellular signalling networks. Increasing evidence indicates that ROS play an important role in the pathogenesis of cardiovascular diseases, although the underlying mechanisms and consequences of pathophysiological elevated ROS in the cardiovascular system are still not completely resolved. More recently, alterations of the epigenetic landscape which can affect DNA methylation, post-translational histone modifications, ATP-dependent alterations to chromatin and non-coding RNA transcripts, have been considered to be of increasing importance in the pathogenesis of cardiovascular diseases...
March 23, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28329355/international-recommendations-for-electrocardiographic-interpretation-in-athletes
#14
Sanjay Sharma, Jonathan A Drezner, Aaron Baggish, Michael Papadakis, Mathew G Wilson, Jordan M Prutkin, Andre La Gerche, Michael J Ackerman, Mats Borjesson, Jack C Salerno, Irfan M Asif, David S Owens, Eugene H Chung, Michael S Emery, Victor F Froelicher, Hein Heidbuchel, Carmen Adamuz, Chad A Asplund, Gordon Cohen, Kimberly G Harmon, Joseph C Marek, Silvana Molossi, Josef Niebauer, Hank F Pelto, Marco V Perez, Nathan R Riding, Tess Saarel, Christian M Schmied, David M Shipon, Ricardo Stein, Victoria L Vetter, Antonio Pelliccia, Domenico Corrado
Sudden cardiac death (SCD) is the leading cause of mortality in athletes during sport. A variety of mostly hereditary, structural, or electrical cardiac disorders are associated with SCD in young athletes, the majority of which can be identified or suggested by abnormalities on a resting 12-lead electrocardiogram (ECG). Whether used for diagnostic or screening purposes, physicians responsible for the cardiovascular care of athletes should be knowledgeable and competent in ECG interpretation in athletes. However, in most countries a shortage of physician expertise limits wider application of the ECG in the care of the athlete...
February 20, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28318658/sudden-death-in-athletes
#15
Domenico Corrado, Alessandro Zorzi
Competitive sports activity is associated with an increased risk of sudden cardiovascular death (SCD) in adolescents and young adults with clinically silent cardiovascular disorders. While in middle-aged/senior athletes atherosclerotic coronary artery disease accounts for the vast majority of SCDs, in young athletes the spectrum of substrates is wider and includes inherited (cardiomyopathies) and congenital (anomalous origin of coronary arteries) structural heart diseases. Inherited ion channel diseases have been implicated in SCDs occurring with an apparently normal heart at autopsy...
March 10, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28283360/phenotypic-expression-of-arvc-how-12-lead-ecg-can-predict-left-or-right-ventricle-involvement-a-familiar-case-series-and-a-review-of-literature
#16
Luca Gaido, Alberto Battaglia, Mario Matta, Carla Giustetto, Simone Frea, Massimo Imazio, Elena Richiardi, Lucia Garberoglio, Fiorenzo Gaita
AIMS: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart-muscle disease primarily affecting the right ventricle (RV) and potentially causing sudden death in young people. The natural history of the disease is firstly characterized by a concealed form progressing over a biventricular involvement. Three different cases coming from the same family are presented together with a review of the literature. METHODS AND RESULTS: Multi-parameter analysis including imaging and electrocardiographic analysis is presented since the first medical referral with follow-up ranging from 11 to 38years...
June 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28258178/international-criteria-for-electrocardiographic-interpretation-in-athletes
#17
Jonathan A Drezner, Sanjay Sharma, Aaron Baggish, Michael Papadakis, Mathew G Wilson, Jordan M Prutkin, Andre La Gerche, Michael J Ackerman, Mats Borjesson, Jack C Salerno, Irfan M Asif, David S Owens, Eugene H Chung, Michael S Emery, Victor F Froelicher, Hein Heidbuchel, Carmen Adamuz, Chad A Asplund, Gordon Cohen, Kimberly G Harmon, Joseph C Marek, Silvana Molossi, Josef Niebauer, Hank F Pelto, Marco V Perez, Nathan R Riding, Tess Saarel, Christian M Schmied, David M Shipon, Ricardo Stein, Victoria L Vetter, Antonio Pelliccia, Domenico Corrado
Sudden cardiac death (SCD) is the leading cause of mortality in athletes during sport. A variety of mostly hereditary, structural or electrical cardiac disorders are associated with SCD in young athletes, the majority of which can be identified or suggested by abnormalities on a resting 12-lead electrocardiogram (ECG). Whether used for diagnostic or screening purposes, physicians responsible for the cardiovascular care of athletes should be knowledgeable and competent in ECG interpretation in athletes. However, in most countries a shortage of physician expertise limits wider application of the ECG in the care of the athlete...
March 3, 2017: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/28229250/role-of-mirnas-in-human-disease-and-inborn-errors-of-metabolism
#18
Ana Rivera-Barahona, Belén Pérez, Eva Richard, Lourdes R Desviat
MicroRNAs (miRNAs) are short, noncoding RNAs that regulate gene expression posttranscriptionally by base pairing with target messenger RNAs (mRNAs). They are estimated to target ∼60% of all human protein-coding genes and are involved in regulating key physiological processes and intracellular signaling pathways. They also exhibit tissue specificity, and their dysregulation is linked to the progression of pathology. Identifying disease associated miRNAs and their respective targets provides novel molecular insight into disease, enabling the design of new therapeutic strategies...
February 22, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28186938/an-online-questionnaire-survey-of-uk-general-practitioners-knowledge-and-management-of-familial-hypercholesterolaemia
#19
See Kwok, Jing Pang, Safwaan Adam, Gerald F Watts, Handrean Soran
OBJECTIVE: Early diagnosis and treatment of heterozygous familial hypercholesterolaemia (HeFH) is known to be associated with reduced mortality from premature coronary artery disease, but HeFH remains underdiagnosed. This survey aims to determine knowledge and current management of HeFH in general practice. SETTING: An online questionnaire was administered to general practitioners' (GPs') in the North West of England to assess their knowledge and management of HeFH...
November 9, 2016: BMJ Open
https://www.readbyqxmd.com/read/28173653/-coenzyme-q-10-treatment-for-one-child-with-coq6-gene-mutation-induced-nephrotic-syndrome-and-literature-review
#20
Q Cao, G M Li, H Xu, Q Shen, L Sun, X Y Fang, H M Liu, W Guo, Y H Zhai, B B Wu
Objective: To summarize the clinical manifestation and molecular characteristics of COQ6 mutation induced nephrotic syndrome, and to evaluate efficacy of CoQ(10) therapy. Method: Clinical data of the case with infantile nephrotic syndrome was summarized, including clinical manifestations, laboratory findings and family investigation. The patient received CoQ(10) 30 mg/(kg·d) therapy. Urine protein/creatinine ratio, serum albumin and creatinine were detected to assess the efficacy of the therapy. Result: (1) The 10 months old boy was presented with nephrotic level proteinuria and hypoalbuminemia...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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