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"Cardiovascular genetic"

Sara B Seidelmann, Emily Smith, Lakshman Subrahmanyan, Daniel Dykas, Maen D Abou Ziki, Bani Azari, Fady Hannah-Shmouni, Yuexin Jiang, Joseph G Akar, Mark Marieb, Daniel Jacoby, Allen E Bale, Richard P Lifton, Arya Mani
BACKGROUND: With the advent of high throughput sequencing, the identification of genetic causes of cardiovascular disease (CVD) has become an integral part of medical diagnosis and management and at the forefront of personalized medicine in this field. The use of whole exome sequencing for clinical diagnosis, risk stratification, and management of inherited CVD has not been previously evaluated. METHODS AND RESULTS: We analyzed the results of whole exome sequencing in first 200 adult patients with inherited CVD, who underwent genetic testing at the Yale Program for Cardiovascular Genetics...
February 2017: Circulation. Cardiovascular Genetics
Wafa Omer, Abdul K Naveed, Omer J Khan, Dilshad A Khan
AIMS: Pro- and anti-inflammatory cytokines play a significant role in early atherosclerosis. Linkage disequilibrium patterns differ between ethnic groups pointing toward the need to develop population-specific gene risk scores. Our objective was to investigate the role of a cytokine gene score in the risk prediction of premature coronary artery disease (PCAD). METHODS: A case-control study was performed at the National University of Sciences and Technology (NUST) in collaboration with the Cardiovascular Genetics Institute, University College London, United Kingdom...
November 2016: Genetic Testing and Molecular Biomarkers
Seema Mital, Kiran Musunuru, Vidu Garg, Mark W Russell, David E Lanfear, Rajat M Gupta, Kathleen T Hickey, Michael J Ackerman, Marco V Perez, Dan M Roden, Daniel Woo, Caroline S Fox, Stephanie Ware
Advances in genomics are enhancing our understanding of the genetic basis of cardiovascular diseases, both congenital and acquired, and stroke. These advances include finding genes that cause or increase the risk for childhood and adult-onset diseases, finding genes that influence how patients respond to medications, and the development of genetics-guided therapies for diseases. However, the ability of cardiovascular and stroke clinicians to fully understand and apply this knowledge to the care of their patients has lagged...
October 2016: Circulation. Cardiovascular Genetics
Tina Haase, Daniela Börnigen, Christian Müller, Tanja Zeller
Cardiovascular disease (CVD) is a major contributor to morbidity and mortality worldwide. However, the pathogenesis of CVD is complex and remains elusive. Within the last years, systems medicine has emerged as a novel tool to study the complex genetic, molecular, and physiological interactions leading to diseases. In this review, we provide an overview about the current approaches for systems medicine in CVD. They include bioinformatical and experimental tools such as cell and animal models, omics technologies, network, and pathway analyses...
2016: Frontiers in Cardiovascular Medicine
Wafa Munir Ansari, Steve E Humphries, Abdul Khaliq Naveed, Omer Jamshed Khan, Dilshad Ahmed Khan
BACKGROUND: Genetic information has the potential to create a more personalised, prompt, early and accurate risk evaluation. The effect of these genetic variants on the serum biomarker levels (phenotype) needs to be studied to assess their potential causal role in the pathogenesis of premature coronary artery disease (PCAD). Objectives were to determine the genotypic distribution of interleukin (IL) 18, tumour necrosis factor-α (TNFA), IL6 and IL10 single nucleotide polymorphisms (SNPs) in Pakistani PCAD cases and disease free controls and to study the effect of these gene polymorphisms on the serum cytokine levels (IL18, TNFA, IL6 and IL10) and cytokine imbalance (IL18:IL10 and TNFA:IL10)...
August 24, 2016: Postgraduate Medical Journal
Peter J Schwartz, Federica Dagradi
Management of survivors of cardiac arrest is largely based on a traditional approach. However, during the past decade, arrhythmias of genetic origin have increasingly been recognized as contributing to many more cases than previously appreciated. This realization is forcing physicians managing the survivors of cardiac arrest also to consider family members. In this Perspectives article, we examine the appropriate management approaches for survivors of cardiac arrests related to channelopathies, cardiomyopathies, or ischaemic heart disease, and for their families...
September 2016: Nature Reviews. Cardiology
Benjamin M Helm, Samantha L Freeze
Congenital heart defects (CHDs) are common birth defects and result in significant morbidity and global economic impact. Genetic factors play a role in most CHDs; however, identification of these factors has been historically slow due to technological limitations and incomplete understanding of the impact of human genomic variation on normal and abnormal cardiovascular development. The advent of chromosome microarray (CMA) brought tremendous gains in identifying chromosome abnormalities in a variety of human disorders and is now considered part of a standard evaluation for individuals with multiple congenital anomalies and/or neurodevelopmental disorders...
2016: Frontiers in Cardiovascular Medicine
Katherine G Spoonamore, Nicole M Johnson
Inherited cardiovascular (CV) conditions are common, and comprehensive care of affected families often involves genetic testing. When the clinical presentations of these conditions overlap, genetic testing may clarify diagnoses, etiologies, and treatments in symptomatic individuals and facilitate the identification of asymptomatic, at-risk relatives, allowing for often life-saving preventative care. Although some professional society guidelines on inherited cardiac conditions include genetic testing recommendations, they quickly become outdated owing to the rapid expansion and use of such testing...
2016: Frontiers in Cardiovascular Medicine
Mladen Kolovic, John F Robinson, Robert A Hegele
Cardiovascular researchers and clinicians who analyze next-generation sequencing data often search databases of previously reported mutations to determine if an observed mutation is pathogenic. In 2012 we created a database of all reported mutations causing human dyslipidemia syndromes. In 2015, we were advised that some information in our database was now proprietary, after the acquisition of a human disease genetic database by a private biotechnology company. To make our dyslipidemia database and tables of mutations compliant with this new reality, we wrote custom computer scripts to remove certain data fields from the previously reported tables...
February 12, 2016: Canadian Journal of Cardiology
Toshihiro Tanaka, Akinori Kimura
No abstract text is available yet for this article.
January 2016: Journal of Human Genetics
Ivo Božić, Zrinka Jurišić, Dorotea Božić, Vedran Carević, Tonći Batinić, Damir Fabijanić
Left ventricular non-compaction (LVNC) is a rare cardiomyopathy, which is today, due to modern ultrasound technology more frequently detected in clinical practice. It is caused by the failure of normal embryonic development of the myocardium from loosely arranged muscle fibers to the mature compacted form of myocardium. Morphologic presentation consists of unique two-layered structure, a thick noncompacted endocardial and a thin compact epicardial layer, in infero-lateral and apical segments. The endocardial layer contains loosely arranged muscle fibers, prominent trabeculations and deep perfused intertrabecular recesses...
September 2015: Lijec̆nic̆ki Vjesnik
Rosa M Barsova, Dmitrijs Lvovs, Boris V Titov, Natalia A Matveeva, Roman M Shakhnovich, Tatiana S Sukhinina, Nino G Kukava, Mikhail Ya Ruda, Irina M Karamova, Timur R Nasibullin, Olga E Mustafina, German J Osmak, Ekaterina Yu Tsareva, Olga G Kulakova, Alexander V Favorov, Olga O Favorova
BACKGROUND: In spite of progress in cardiovascular genetics, data on genetic background of myocardial infarction are still limited and contradictory. This applies as well to the genes involved in inflammation and coagulation processes, which play a crucial role in the disease etiopathogenesis. METHODS AND RESULTS: In this study we found genetic variants of TGFB1, FGB and CRP genes associated with myocardial infarction in discovery and replication groups of Russian descent from the Moscow region and the Republic of Bashkortostan (325/185 and 220/197 samples, correspondingly)...
2015: PloS One
Srijita Sen-Chowdhry, William J McKenna
Sudden death and stroke afflicted a family from rural Quebec with such frequency as to be called the Coaticook curse by the local community. In Montreal in the late 1950s, a team of physicians led by J.A.P. Paré investigated this family for inherited cardiovascular disease. Their efforts resulted in an extensive and now classic description of familial hypertrophic cardiomyopathy. A quarter of a century later, the same family was the subject of linkage analysis and direct sequencing, culminating in the isolation of a mutation in the gene encoding the β myosin heavy chain...
November 2015: Canadian Journal of Cardiology
H Yokoyama, S Araki, S Watanabe, J Honjo, S Okizaki, D Yamada, R Shudo, H Shimizu, H Sone, M Haneda
OBJECTIVE: The prevalence of treatment resistant hypertension (RH) depends on methods used for blood pressure (BP) measurements, goals of BP, and therapeutic efforts in terms of medication and adherence. We focused on diabetic subjects and explored the prevalence of RH in primary care practice. METHODS: In 1737 subjects with type 2 diabetes who continued regular visits, office BP was evaluated by multiple measurements over one year. RH was defined as using more than four antihypertensive drugs or failure to achieve the goal with three antihypertensive drugs from different classes...
October 2015: Diabetes Research and Clinical Practice
Lauren E Grote, Elena A Repnikova, Shivarajan M Amudhavalli
Feingold syndrome-2 has been recently shown to be caused by germline heterozygous deletions of MIR17HG with 10 reported patients to date. Manifestations common to both Feingold syndrome-1 and Feingold syndrome-2 include microcephaly, short stature, and brachymesophalangy; but those with Feingold syndrome-2 lack gastrointestinal atresias. Here we describe a 14-year-old male patient who presented to our Cardiovascular Genetics Clinic with a history of a bicuspid aortic valve with aortic stenosis, short stature, hearing loss, and mild learning disabilities...
December 2015: American Journal of Medical Genetics. Part A
G J M Kummeling, A F Baas, M Harakalova, J J van der Smagt, F W Asselbergs
Genetics plays an important role in the pathophysiology of cardiovascular diseases, and is increasingly being integrated into clinical practice. Since 2008, both capacity and cost-efficiency of mutation screening of DNA have been increased magnificently due to the technological advancement obtained by next-generation sequencing. Hence, the discovery rate of genetic defects in cardiovascular genetics has grown rapidly and the financial threshold for gene diagnostics has been lowered, making large-scale DNA sequencing broadly accessible...
July 2015: Netherlands Heart Journal
Benjamin J Landis, Stephanie M Ware, Jeanne James, Amy R Shikany, Lisa J Martin, Robert B Hinton
OBJECTIVES: To describe the global phenotypes of pediatric patients with thoracic aortic aneurysm (TAA) who do not have a clinical diagnosis of Marfan syndrome (MFS) or related connective tissue disorders. We hypothesized that the presence of noncardiovascular abnormalities correlate with TAA severity and that medical therapy reduces TAA progression. STUDY DESIGN: This is a retrospective case series of patients with TAA age ≤ 21 years evaluated in a cardiovascular genetics clinic...
July 2015: Journal of Pediatrics
Virginie Beauséjour Ladouceur
No abstract text is available yet for this article.
March 3, 2015: Journal of the American College of Cardiology
Liv Mundal, Mirza Sarancic, Leiv Ose, Per Ole Iversen, Jens-Kristian Borgan, Marit B Veierød, Trond P Leren, Kjetil Retterstøl
BACKGROUND: Untreated patients with familial hypercholesterolemia are at increased risk of premature cardiovascular death. The primary aim of this study was to investigate whether this is also the case in the statin era. METHODS AND RESULTS: In this registry-based study, 4688 male and female patients from the Unit for Cardiac and Cardiovascular Genetics (UCCG) Registry with verified molecular genetic diagnosis of familial hypercholesterolemia in the period 1992-2010 were linked to the Norwegian Cause of Death Registry...
December 2014: Journal of the American Heart Association
Nathalie Chami, Rafik Tadros, François Lemarbre, Ken Sin Lo, Mélissa Beaudoin, Laura Robb, Damian Labuda, Jean-Claude Tardif, Normand Racine, Mario Talajic, Guillaume Lettre
BACKGROUND: Dilated cardiomyopathy (DCM) is a major cause of heart failure that may require heart transplantation. Approximately one third of DCM cases are familial. Next-generation DNA sequencing of large panels of candidate genes (ie, targeted sequencing) or of the whole exome can rapidly and economically identify pathogenic mutations in familial DCM. METHODS: We recruited 64 individuals from 26 DCM families followed at the Montreal Heart Institute Cardiovascular Genetic Center and sequenced the whole exome of 44 patients and 2 controls...
December 2014: Canadian Journal of Cardiology
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