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https://www.readbyqxmd.com/read/27901040/follow-up-care-by-a-genetic-counsellor-for-relatives-at-risk-for-cardiomyopathies-is-cost-saving-and-well-appreciated-a-randomised-comparison
#1
Karin Nieuwhof, Erwin Birnie, Maarten P van den Berg, Rudolf A de Boer, Paul L van Haelst, J Peter van Tintelen, Irene M van Langen
Increasing numbers of patient relatives at risk of developing dilated or hypertrophic cardiomyopathy (DCM/HCM) are being identified and followed up by cardiologists according to the ACC/ESC guidelines. However, given limited healthcare resources, good-quality low-cost alternative approaches are needed. Therefore, we have compared conventional follow-up by a cardiologist with that provided at a cardiogenetic clinic (CGC) led by a genetic counsellor. Phenotype-negative first-degree relatives at risk for DCM/HCM were randomly assigned to see either a cardiologist or to attend a CGC...
November 30, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27790050/arrhythmogenic-right-ventricular-dysplasia-in-neuromuscular-disorders
#2
REVIEW
Josef Finsterer, Claudia Stöllberger
OBJECTIVES: Arrhythmogenic right ventricular dysplasia (ARVD) is a rare, genetic disorder predominantly affecting the right ventricle. There is increasing evidence that in some cases, ARVD is due to mutations in genes, which have also been implicated in primary myopathies. This review gives an overview about myopathy-associated ARVD and how these patients can be managed. METHODS: A literature review was done using appropriate search terms. RESULTS: The myopathy, which is most frequently associated with ARVD, is the myofibrillar myopathy due to desmin mutations...
2016: Clinical Medicine Insights. Cardiology
https://www.readbyqxmd.com/read/27785341/sex-and-gender-medicine-in-physician-clinical-training-results-of-a-large-single-center-survey
#3
Shivani Dhawan, May Bakir, Erika Jones, Sarah Kilpatrick, C Noel Bairey Merz
BACKGROUND: "Sex and Gender Medicine" is a novel medical discipline that takes into account the effects of sex and gender on the health of women and men. The Institute of Medicine in the USA declared in its 2001 and 2010 statements that being a woman or a man significantly impacts the course of diseases, and therefore, this fact must be considered in diagnosis and therapy. We evaluated the representation of Sex and Gender Medicine in clinical training at Cedars-Sinai Medical Center, a large, tertiary, non-profit, academic medical training center in the Western United States...
2016: Biology of Sex Differences
https://www.readbyqxmd.com/read/27760444/-pathobiology-pathology-and-genetics-of-pulmonary-hypertension-recommendations-of-the-cologne-consensus-conference-2016
#4
A Olschewski, E M Berghausen, C A Eichstaedt, B K Fleischmann, E Grünig, G Grünig, G Hansmann, L Harbaum, J K Hennigs, D Jonigk, W M Kübler, G Kwapiszewska, S S Pullamsetti, E Stacher, N Weissmann, D Wenzel, R T Schermuly
The 2015 European Guidelines on Diagnosis and Treatment of Pulmonary Hypertension (PH) are also valid for Germany. While the guidelines contain detailed recommendations regarding clinical aspects of pulmonary arterial hypertension (PAH) and other forms of PH, they contain only a relatively short paragraph on novel findings on the pathobiology, pathology, and genetics. However, these are of great importance for our understanding of this complex disease both from a clinical and scientific point of view, and they are essential for the development of novel treatment strategies...
October 2016: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/27668809/kawasaki-disease-at-50-years
#5
Ezra Cohen, Robert Sundel
Importance: Kawasaki disease (KD) is the most recognized vasculitis of childhood. The condition's characteristic high fever, rash, mucositis, conjunctivitis, lymphadenopathy, and extremity changes are superficially unexceptional, and resolve spontaneously within a mean of 12 days. It is the acuity and the potential for life-changing damage to the coronary arteries that distinguish KD from conditions that mimic it and exemplify the unique aspects and challenges of vascular inflammation in children...
September 26, 2016: JAMA Pediatrics
https://www.readbyqxmd.com/read/27617263/the-role-of-genetic-testing-in-the-identification-of-young-athletes-with-inherited-primitive-cardiac-disorders-at-risk-of-exercise-sudden-death
#6
REVIEW
Francesco Danilo Tiziano, Vincenzo Palmieri, Maurizio Genuardi, Paolo Zeppilli
Although relatively rare, inherited primitive cardiac disorders (IPCDs) in athletes have a deep social impact since they often present as sudden cardiac death (SCD) of young and otherwise healthy persons. The diagnosis of these conditions is likely underestimated due to the lack of shared clinical criteria and to the existence of several borderline clinical pictures. We will focus on the clinical and molecular diagnosis of the most common IPCDs, namely hypertrophic cardiomyopathies, long QT syndrome, arrhythmogenic right ventricular cardiomyopathy, and left ventricular non-compaction...
2016: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/27585509/genetic-screening-of-anderson-fabry-disease-in-probands-referred-from-multispecialty-clinics
#7
Valentina Favalli, Eliana Disabella, Mariadelfina Molinaro, Marilena Tagliani, Anna Scarabotto, Alessandra Serio, Maurizia Grasso, Nupoor Narula, Carmela Giorgianni, Clelia Caspani, Monica Concardi, Manuela Agozzino, Calogero Giordano, Alexandra Smirnova, Takahide Kodama, Lorenzo Giuliani, Elena Antoniazzi, Riccardo G Borroni, Camilla Vassallo, Filippo Mangione, Laura Scelsi, Stefano Ghio, Carlo Pellegrini, Marialuisa Zedde, Laura Fancellu, GianPietro Sechi, Antonello Ganau, Stefania Piga, Annarita Colucci, Daniela Concolino, Maria Teresa Di Mascio, Danilo Toni, Marina Diomedi, Claudio Rapezzi, Elena Biagini, Massimiliano Marini, Maurizia Rasura, Maurizio Melis, Antonia Nucera, Donata Guidetti, Michelangelo Mancuso, Umberto Scoditti, Pamela Cassini, Jagat Narula, Luigi Tavazzi, Eloisa Arbustini
BACKGROUND: Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disease, caused by defects of the alpha-galactosidase A (GLA) gene. AFD can affect the heart, brain, kidney, eye, skin, peripheral nerves, and gastrointestinal tract. Cardiology (hypertrophic cardiomyopathy), neurology (cryptogenic stroke), and nephrology (end-stage renal failure) screening studies suggest the prevalence of GLA variants is 0.62%, with diagnosis confirmation in 0.12%. OBJECTIVES: This study sought to expand screening from these settings to include ophthalmology, dermatology, gastroenterology, internal medicine, pediatrics, and medical genetics to increase diagnostic yield and comprehensively evaluate organ involvement in AFD patients...
September 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27572719/pharmacological-treatments-for-friedreich-ataxia
#8
REVIEW
Mary Kearney, Richard W Orrell, Michael Fahey, Ruth Brassington, Massimo Pandolfo
BACKGROUND: Friedreich ataxia is a rare inherited autosomal recessive neurological disorder, characterised initially by unsteadiness in standing and walking, slowly progressing to wheelchair dependency usually in the late teens or early twenties. It is associated with slurred speech, scoliosis, and pes cavus. Heart abnormalities cause premature death in 60% of people with the disorder. There is no easily defined clinical or biochemical marker and no known treatment. This is the second update of a review first published in 2009 and previously updated in 2012...
August 30, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27572422/genetics-of-cardiovascular-diseases-lessons-learned-from-a-decade-of-genomics-research-in-iceland
#9
David O Arnar, Karl Andersen, Gudmundur Thorgeirsson
In the past 10 years, large-scale genotyping has led to discoveries of sequence variants that confer the risk of many common and complex diseases. Due to pioneering work done, in large part, at deCODE genetics in Reykjavik, discoveries from Iceland have contributed substantially to key advances in population genetics. In cardiovascular medicine, a number of discoveries have been made, uncovering sequence variants that are associated with disorders such as coronary artery disease, atrial fibrillation, sick sinus syndrome, peripheral vascular disease, aortic aneurysm, and ischemic stroke...
September 15, 2016: Scandinavian Cardiovascular Journal: SCJ
https://www.readbyqxmd.com/read/27555292/transgenerational-cardiology-one-way-to-a-baby-s-heart-is-through-the-mother
#10
Patrick Y Jay, Ehiole Akhirome, Rachel A Magnan, M Rebecca Zhang, Lillian Kang, Yidan Qin, Nelson Ugwu, Suk Dev Regmi, Julie M Nogee, James M Cheverud
Despite decades of progress, congenital heart disease remains a major cause of mortality and suffering in children and young adults. Prevention would be ideal, but formidable biological and technical hurdles face any intervention that seeks to target the main causes, genetic mutations in the embryo. Other factors, however, significantly modify the total risk in individuals who carry mutations. Investigation of these factors could lead to an alternative approach to prevention. To define the risk modifiers, our group has taken an "experimental epidemiologic" approach via inbred mouse strain crosses...
November 5, 2016: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/27541948/oncocardiology-past-present-and-future-a-review
#11
Edward T H Yeh, Hui-Ming Chang
Importance: Oncocardiology is a medical discipline that focuses on the identification, prevention, and treatment of cardiovascular complications related to cancer therapy. This discipline has gained interest from the cardiology community in recent years because of a remarkable increase in the number of cancer survivors and the proliferation of new cancer therapies causing cardiovascular complications, such as hypertension, heart failure, vascular complications, and cardiac arrhythmia...
August 17, 2016: JAMA Cardiology
https://www.readbyqxmd.com/read/27536078/factors-affecting-the-development-of-adverse-drug-reactions-to-%C3%AE-blockers-in-hospitalized-cardiac-patient-population
#12
Snežana Mugoša, Nataša Djordjević, Nina Djukanović, Dragana Protić, Zoran Bukumirić, Ivan Radosavljević, Aneta Bošković, Zoran Todorović
The aim of the present study was to undertake a study on the prevalence of cytochrome P450 2D6 (CYP2D6) poor metabolizer alleles (*3, *4, *5, and *6) on a Montenegrin population and its impact on developing adverse drug reactions (ADRs) of β-blockers in a hospitalized cardiac patient population. A prospective study was conducted in the Cardiology Center of the Clinical Center of Montenegro and included 138 patients who had received any β-blocker in their therapy. ADRs were collected using a specially designed questionnaire, based on the symptom list and any signs that could point to eventual ADRs...
2016: Patient Preference and Adherence
https://www.readbyqxmd.com/read/27521086/role-of-genetic-testing-in-patients-with-ventricular-arrhythmias-in-apparently-normal-hearts
#13
REVIEW
Nynke Hofman, Arthur A M Wilde
Ventricular arrhythmias without structural heart disease are responsible for ∼35% of patients who have sudden cardiac death before the age of 40 years. Molecular autopsy and/or cardiological investigation of nearby family members often reveals the diagnosis and genetic testing can be helpful in family screening and risk stratification in disease carriers. Extended gene panels can be screened in a short period of time at low cost. A multidisciplinary team of (genetically) specialized clinicians is necessary to judge all the available details and to decide on the significance of the variant and further strategies...
September 2016: Cardiac Electrophysiology Clinics
https://www.readbyqxmd.com/read/27519172/echocardiographic-diagnosis-of-the-different-phenotypes-of-hypertrophic-cardiomyopathy
#14
REVIEW
Vito Maurizio Parato, Valeria Antoncecchi, Fabiola Sozzi, Stefania Marazia, Annapaola Zito, Maria Maiello, Pasquale Palmiero
Hypertrophic Cardiomyopathy (HCM) is an inherited cardiovascular disorder of great genetic heterogeneity and has a prevalence of 0.1 - 0.2 % in the general population. Several hundred mutations in more than 27 genes, most of which encode sarcomeric structures, are associated with the HCM phenotype. Then, HCM is an extremely heterogeneous disease and several phenotypes have been described over the years. Originally only two phenotypes were considered, a more common, obstructive type (HOCM, 70 %) and a less common, non-obstructive type (HNCM, 30 %) (Maron BJ, et al...
2016: Cardiovascular Ultrasound
https://www.readbyqxmd.com/read/27504943/correlation-between-factor-vii-and-pai-1-genetic-variants-and-recurrent-miscarriage
#15
Magdalena Barlik, Agnieszka Seremak-Mrozikiewicz, Krzysztof Drews, Andrzej Klejewski, Grażyna Kurzawińska, Zdzisław Łowicki, Hubert Wolski
BACKGROUND: Polymorphisms which are presented below may be the cause of inherited thrombophilia and may result in pregnancy loss. The hypothesis is based on a number of cardiology studies which have confirmed the involvement of these polymorphisms in thrombotic incidents. OBJECTIVES: To evaluate the role of polymorphisms of factor VII gene (Arg353Gln, -122T > C) and PAI-1 gene (-675 4G/5G) in the etiology of recurrent miscarriage. MATERIAL AND METHODS: The study group included 152 women with a positive history of ≥ 2 consecutive pregnancy losses (114 and 38 women with 2 and ≥ 3 miscarriages, respectively), while 180 healthy women were recruited as controls...
2016: Ginekologia Polska
https://www.readbyqxmd.com/read/27503844/the-risk-of-hepatotoxicity-new-onset-diabetes-and-rhabdomyolysis-in-the-era-of-high-intensity-statin-therapy-does-statin-type-matter
#16
Lane B Benes, Nikhil S Bassi, Michael H Davidson
The 2013 American College of Cardiology/American Heart Association guidelines on cholesterol management have placed greater emphasis on high-intensity statin dosing for those with known cardiovascular disease or diabetes mellitus. Differences in risk of hepatotoxicity, new onset diabetes and rhabdomyolysis specifically between the high-intensity statins and the most common moderate-intensity statin, simvastatin, were not found to a significant degree in this review. Rather, baseline characteristics and drug-drug interactions (DDIs) appear to be more important regarding the risk of these adverse effects...
September 2016: Progress in Cardiovascular Diseases
https://www.readbyqxmd.com/read/27503591/alcohol-septal-ablation-in-obstructive-acromegalic-hypertrophic-cardiomyopathy-a-first-case-report
#17
André Viveiros Monteiro, António Fiarresga, Duarte Cacela, Lídia de Sousa, Ruben Ramos, Ana Galrinho, Luísa Branco, Rui Cruz Ferreira
Acromegaly is a rare disease, mostly caused by a growth hormone (GH)-secreting benign pituitary tumor, with an increased production of GH and insulin-like growth factor 1 (IGF-1). Cardiovascular complications are common and are associated with cardiomyocyte apoptosis and concentric cardiac hypertrophy. Suppression of GH and IGF-1 appears to improve cardiac function only in the short term, with little or no decrease in left ventricular mass or improvement in cardiac function after prolonged treatment. Alcohol septal ablation (ASA) has emerged as a minimally invasive alternative to septal myectomy, with significant improvement in symptoms, gradients and left ventricular remodeling...
September 2016: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/27459651/antihyperlipidemic-medication-treatment-patterns-and-statin-adherence-among-patients-with-ascvd-in-a-managed-care-plan-after-release-of-the-2013-acc-aha-guideline-on-the-treatment-of-blood-cholesterol
#18
Brandon K Bellows, Cody J Olsen, Jennifer Voelker, Curtis Wander
BACKGROUND: The American College of Cardiology (ACC) and American Heart Association (AHA) released a new blood cholesterol treatment guideline in November 2013. It is unknown how the new recommendations have affected cholesterol medication use and adherence in a commercial health plan. OBJECTIVE: To evaluate the effect of the 2013 guideline release on antihyperlipidemic treatment patterns and statin adherence in patients with atherosclerotic cardiovascular disease (ASCVD) compared with a historical control group...
August 2016: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/27437663/how-hypertrophic-cardiomyopathy-became-a-contemporary-treatable-genetic-disease-with-low-mortality-shaped-by-50-years-of-clinical-research-and-practice
#19
Barry J Maron, Ethan J Rowin, Susan A Casey, Martin S Maron
Hypertrophic cardiomyopathy (HCM) is a relatively common genetic heart disease encumbered throughout much of its almost 60-year history by a large measure of misunderstanding and the perception of a grim outcome without effective treatment options. However, it is now apparent that the majority of patients affected with HCM can achieve normal or near-normal life expectancy without disability, and usually do not require major treatment interventions. Nevertheless, for those patients with HCM who are at risk for (or experience) disease-related complications, a constellation of comprehensive nonpharmacologic management strategies have evolved over the last 15 years, altering the natural history and disease course for many, including implantable defibrillators, heart transplant, external defibrillation/therapeutic hypothermia, advances in surgical myectomy, and alcohol ablation...
April 1, 2016: JAMA Cardiology
https://www.readbyqxmd.com/read/27386769/genotype-and-phenotype-of-transthyretin-cardiac-amyloidosis-thaos-transthyretin-amyloid-outcome-survey
#20
Mathew S Maurer, Mazen Hanna, Martha Grogan, Angela Dispenzieri, Ronald Witteles, Brian Drachman, Daniel P Judge, Daniel J Lenihan, Stephen S Gottlieb, Sanjiv J Shah, D Eric Steidley, Hector Ventura, Srinivas Murali, Marc A Silver, Daniel Jacoby, Savitri Fedson, Scott L Hummel, Arnt V Kristen, Thibaud Damy, Violaine Planté-Bordeneuve, Teresa Coelho, Rajiv Mundayat, Ole B Suhr, Márcia Waddington Cruz, Claudio Rapezzi
BACKGROUND: Transthyretin amyloidosis (ATTR) is a heterogeneous disorder with multiorgan involvement and a genetic or nongenetic basis. OBJECTIVES: The goal of this study was to describe ATTR in the United States by using data from the THAOS (Transthyretin Amyloidosis Outcomes Survey) registry. METHODS: Demographic, clinical, and genetic features of patients enrolled in the THAOS registry in the United States (n = 390) were compared with data from patients from other regions of the world (ROW) (n = 2,140)...
July 12, 2016: Journal of the American College of Cardiology
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