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https://www.readbyqxmd.com/read/28815877/new-intragenic-rearrangements-in-non-finnish-mulibrey-nanism
#1
Florence Jobic, Gilles Morin, Catherine Vincent-Delorme, Estelle Cadet, Rosalie Cabry, Michèle Mathieu-Dramard, Henri Copin, Jacques Rochette, Guillaume Jedraszak
Prenatal growth is a complex dynamic process controlled by various genetic and environmental factors. Among genetic syndromes characterized by growth restriction, MULIBREY nanism represents a rare autosomal recessive condition presenting with severe pre- and post-natal growth failure, characteristic dysmorphic features but normal neurological development. The phenotype of MULIBREY nanism is variable and overlaps with others such as the Silver-Russell syndrome. We report here three patients in two distinct non-Finnish families from North France who were first suspected to have Silver-Russell syndrome which failed to be confirmed on molecular analyses...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28808507/cyp2c19-genetic-variation-and-individualized-clopidogrel-prescription-in-a-cardiology-clinic
#2
Seyed Abbas Mirabbasi, Koroush Khalighi, Yin Wu, Stanley Walker, Bahar Khalighi, Wuqiang Fan, Archana Kodali, Gang Cheng
Background: Clopidogrel (Plavix) is an antiplatelet medication that is routinely used in patients with cardiovascular disease. Cytochrome P2C19 enzymes play a major role in its metabolism, which determines its varied therapeutic level and its effectiveness. Objectives: To customize clopidogrel therapy and evaluate its efficacy by using CYP2C19 genotypic and phenotypic information to improve clinical outcomes in patients. Methods: A total of 465 patients with underlying cardiovascular disease were selected from our out-patient cardiology clinic...
July 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28759457/genetic-causes-of-sudden-cardiac-death-in-children-inherited-arrhythmogenic-diseases
#3
Gaetano Vacanti, Riccardo Maragna, Andrea Mazzanti, Silvia G Priori
PURPOSE OF REVIEW: In this chapter we will discuss the most recent and relevant evidences published in the field of inherited arrhythmogenic disorders, focusing on the so called 'channelopathies' that are associated with sudden cardiac death (SCD) in children: long QT syndrome (LQTS), short QT syndrome (SQTS), Brugada syndrome (BrS), and catecholaminergic polymorphic ventricular tachycardia (CPVT). RECENT FINDINGS: We will discuss the latest diagnostic criteria for channelopathies released by the European Society of Cardiology, the new data on BrS in children and the recent evidence supporting a genotype-specific therapy for LQTS type 3...
July 28, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28742517/type-1-rhizomelic-chondrodysplasia-punctata-with-a-homozygous-pex7-mutation
#4
Nursel Muratoğlu Şahin, Meliha Esra Bilici, Erdal Kurnaz, Melek Pala Akdoğan, Serdar Ceylaner, Zehra Aycan
BACKGROUND: Rhizomelic chondrodysplasia punctata (RCDP) is a rare peroxisomal disease characterised by punctate calcifications of non-ossified cartilage epiphyseal centres. The main biochemical marker of all RCDP types is a decrease in the levels of plasmalogens. Additionally, the accumulation of phytanic acid can be used as a differential marker between types of RDCP. Due to the biochemical overlap between types 1 and 5 RCDP, a genetic analysis of these genes should be performed in patients to identify the type...
August 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28705803/clinical-practice-guidelines-for-the-care-of-girls-and-women-with-turner-syndrome-proceedings-from-the-2016-cincinnati-international-turner-syndrome-meeting
#5
Claus H Gravholt, Niels H Andersen, Gerard S Conway, Olaf M Dekkers, Mitchell E Geffner, Karen O Klein, Angela E Lin, Nelly Mauras, Charmian A Quigley, Karen Rubin, David E Sandberg, Theo C J Sas, Michael Silberbach, Viveca Söderström-Anttila, Kirstine Stochholm, Janielle A van Alfen-van derVelden, Joachim Woelfle, Philippe F Backeljauw
Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016...
September 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28705229/brugada-syndrome-in-a-patient-with-amyotrophic-lateral-sclerosis-a-case-report
#6
Anusha Battineni, Rohit Gummi, Naresh Mullaguri, Raghav Govindarajan
BACKGROUND: Amyotrophic lateral sclerosis is a fatal neuromuscular disorder characterized by progressive death of the upper and lower motor neurons in the central nervous system. Patients with this disease die mostly as a result of respiratory failure; however, owing to prolonged survival through assisted ventilation, cardiovascular causes are increasingly responsible for mortality. We report what is to the best of our knowledge the first case of type 2 Brugada syndrome causing ventricular tachyarrhythmia and cardiac arrest in a patient with upper limb onset amyotrophic lateral sclerosis...
July 14, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28700418/advances-in-paediatric-cardiology-2017-the-genetics-of-paediatric-cardiovascular-disease
#7
Daniel Bernstein
No abstract text is available yet for this article.
July 11, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28699125/uptake-of-predictive-genetic-testing-and-cardiac-evaluation-for-children-at-risk-for-an-inherited-arrhythmia-or-cardiomyopathy
#8
Susan Christian, Joseph Atallah, Robin Clegg, Michael Giuffre, Cathleen Huculak, Tara Dzwiniel, Jillian Parboosingh, Sherryl Taylor, Martin Somerville
Predictive genetic testing in minors should be considered when clinical intervention is available. Children who carry a pathogenic variant for an inherited arrhythmia or cardiomyopathy require regular cardiac screening and may be prescribed medication and/or be told to modify their physical activity. Medical genetics and pediatric cardiology charts were reviewed to identify factors associated with uptake of genetic testing and cardiac evaluation for children at risk for long QT syndrome, hypertrophic cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy...
July 11, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28661905/genetics-of-pulmonary-hypertension-in-the-clinic
#9
Barbara Girerd, Edmund Lau, David Montani, Marc Humbert
PURPOSE OF REVIEW: Heritable pulmonary arterial hypertension (PAH) is an autosomal dominant disease with incomplete penetrance because of mutations in bone morphogenetic protein receptor-II (BMPR2), activin A receptor type II-like kinase 1, endoglin, caveolin-1, potassium channel subfamily K, member 3, and T-box gene 4 genes. Heritable pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD/PCH) is an autosomal recessive disease because of biallelic mutations in the eukaryotic translation initiation factor 2 alpha kinase 4 gene...
September 2017: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/28629661/cornelia-de-lange-syndrome-congenital-heart-disease-in-149-patients
#10
Ariadna Ayerza Casas, Beatriz Puisac Uriol, María Esperanza Teresa Rodrigo, María Hernández Marcos, Feliciano J Ramos Fuentes, Juan Pie Juste
INTRODUCTION: Cornelia de Lange syndrome (CdLS) is produced by mutations in genes that encode regulatory or structural proteins of the cohesin complex. Congenital heart disease (CHD) is not a major criterion of the disease, but it affects many individuals. The objective of this study was to study the incidence and type of CHD in patients with CdLS. MATERIAL AND METHOD: Cardiological findings were evaluated in 149 patients with CdLS and their possible relationship with clinical and genetic variables...
June 16, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28614229/familial-clustering-of-congenital-deafness-patent-ductus-arteriosus-eisenmenger-complex-and-differential-cyanosis-a-case-report
#11
Ting-Wei Lin, Chih-Wei Tseng, Chi-Yao Huang, Kuo-Yang Wang, Kae-Woei Liang
RATIONALE: Few studies had reported syndromes that include patent ductus arteriosus (PDA) with Eisenmenger syndrome and congenital deafness clustered in male siblings without facial, skeletal, or mental abnormalities. PATIENT CONCERNS: Two brothers, who were deaf and had PDA with Eisenmenger complex, were first seen at our Cardiology clinic at the ages of 25 and 41, respectively. They presented with progressive dyspnea on exertion. Upon physical examination, both brothers had clubbing and/or cyanotic toes, normal fingers, and without facial, skeletal, ophthalmological, or mental abnormalities...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28607545/the-genetics-of-aortopathies-in-clinical-cardiology
#12
REVIEW
Amit Goyal, Ali R Keramati, Matthew J Czarny, Jon R Resar, Arya Mani
Aortopathies pose a significant healthcare burden due to excess early mortality, increasing incidence, and underdiagnosis. Understanding the underlying genetic causes, early diagnosis, timely surveillance, prophylactic repair, and family screening are keys to addressing these diseases. Next-generation sequencing continues to expand our understanding of the genetic causes of heritable aortopathies, rapidly clarifying their underlying molecular pathophysiology and suggesting new potential therapeutic targets...
2017: Clinical Medicine Insights. Cardiology
https://www.readbyqxmd.com/read/28606654/management-of-marfan-syndrome-during-pregnancy-a-real-world-experience-from-a-joint-cardiac-obstetric-service
#13
Joanna C E-S Lim, Matthew Cauldwell, Roshni R Patel, Anselm Uebing, Ruth A Curry, Mark R Johnson, Michael A Gatzoulis, Lorna Swan
BACKGROUND: Pregnancy in Marfan Syndrome (MFS) is associated with increased maternal risk of cardiovascular events. Given the maternal and genetic risks, pre-conception counselling is essential to facilitate informed choices. Multidisciplinary antenatal care with regular imaging is mandatory and best delivered through a Joint Cardiac Obstetric Service (JCOS). The aim of this study was to compare the care delivered in a JCOS against recognised international standards (European Society of Cardiology (ESC))...
September 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28589536/distinguishing-pathogenic-mutations-from-background-genetic-noise-in-cardiology-the-use-of-large-genome-databases-for-genetic-interpretation
#14
REVIEW
Jonas Ghouse, Morten W Skov, Robert S Bigseth, Gustav Ahlberg, Jørgen K Kanters, Morten S Olesen
Advances in clinical genetic testing has led to increased insight into the human genome, including how challenging it is to interpret rare genetic variation. In some cases, the ability to detect genetic mutations exceeds the ability to understand their clinical impact, limiting the advantage of these technologies. Obstacles in genomic medicine are many and include: understanding the level of certainty/uncertainty behind pathogenicity determination, the numerous different variant interpretation-guidelines used by clinical laboratories, delivering the certain or uncertain result to the patient, helping patients evaluate medical decisions in light of uncertainty regarding the consequence of the findings...
June 6, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28586605/burden-of-atherosclerosis-risk-among-different-ethinicity-a-hidden-health-challenge
#15
Tariq Ashraf, Kanwal Fatima Aamir, Abdul Samad Achakzai, Naeem Mengal, Muhammad Tariq Karim
BACKGROUND: Atherosclerosis risk and incidence of developing chronic cardiovascular conditions vary greatly between ethnic groups in South Asian population. To evaluate different ethnic groups in Pakistan, population based study was conducted at Karachi, the largest metropolitan city of Pakistan; to assess ten years and lifetime estimated cardiovascular disease risks without preexisting cardiovascular disease in Pakistani subjects by using Pooled Cohort Risk equation (calculator) as per American College of Cardiology (ACC) and the American Heart Association (AHA) 2013 guidelines...
October 2016: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28579060/human-dihydrolipoamide-dehydrogenase-e3-deficiency-novel-insights-into-the-structural-basis-and-molecular-pathomechanism
#16
REVIEW
Attila Ambrus, Vera Adam-Vizi
This review summarizes our present view on the molecular pathogenesis of human (h) E3-deficiency caused by a variety of genetic alterations with a special emphasis on the moonlighting biochemical phenomena related to the affected (dihydro)lipoamide dehydrogenase (LADH, E3, gene: dld), in particular the generation of reactive oxygen species (ROS). E3-deficiency is a rare autosomal recessive genetic disorder frequently presenting with a neonatal onset and premature death; the highest carrier rate of a single pathogenic dld mutation (1:94-1:110) was found among Ashkenazi Jews...
June 2, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28533687/pulmonary-hypertension-and-vasculopathy-in-incontinentia-pigmenti-a-case-report
#17
Abduljabbar Alshenqiti, Marwan Nashabat, Hissah AlGhoraibi, Omar Tamimi, Majid Alfadhel
Incontinentia pigmenti (IP; Bloch-Sulzberger syndrome) is a rare, genetic syndrome inherited as an X-linked dominant trait. It primarily affects female infants and is lethal in the majority of males during fetal life. The clinical findings include skin lesions, developmental defects, and defects of the eyes, teeth, skeletal system, and central nervous system. Cardiovascular complications of this disease in general, and pulmonary hypertension in particular, are extremely rare. This report describes the case of a 3-year-old girl with IP complicated by pulmonary arterial hypertension...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28510718/multimodality-imaging-in-restrictive-cardiomyopathies-an-eacvi-expert-consensus-document-in-collaboration-with-the-working-group-on-myocardial-and-pericardial-diseases-of-the-european-society-of-cardiology-endorsed-by-the-indian-academy-of-echocardiography
#18
Gilbert Habib, Chiara Bucciarelli-Ducci, Alida L P Caforio, Nuno Cardim, Philippe Charron, Bernard Cosyns, Aurélie Dehaene, Genevieve Derumeaux, Erwan Donal, Marc R Dweck, Thor Edvardsen, Paola Anna Erba, Laura Ernande, Oliver Gaemperli, Maurizio Galderisi, Julia Grapsa, Alexis Jacquier, Karin Klingel, Patrizio Lancellotti, Danilo Neglia, Alessia Pepe, Pasquale Perrone-Filardi, Steffen E Petersen, Sven Plein, Bogdan A Popescu, Patricia Reant, L Elif Sade, Erwan Salaun, Riemer H J A Slart, Christophe Tribouilloy, Jose Zamorano
Restrictive cardiomyopathies (RCMs) are a diverse group of myocardial diseases with a wide range of aetiologies, including familial, genetic and acquired diseases and ranging from very rare to relatively frequent cardiac disorders. In all these diseases, imaging techniques play a central role. Advanced imaging techniques provide important novel data on the diagnostic and prognostic assessment of RCMs. This EACVI consensus document provides comprehensive information for the appropriateness of all non-invasive imaging techniques for the diagnosis, prognostic evaluation, and management of patients with RCM...
May 16, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28484805/-practical-guidelines-for-genetic-testing-in-cardiovascular-diseases
#19
W Reinhard, T Trenkwalder, H Schunkert
In the last decade, genetic testing for cardiovascular disorders has become more and more relevant. Progress in molecular genetics has led to new opportunities for diagnostics, improved risk prediction and could lead to novel therapeutic approaches. Genetic diagnostic testing is relevant for both confirming a diagnosis as well as deciding on therapeutic consequences, if applicable. Furthermore, predictive testing in family members for specific cardiovascular diseases is now a standard procedure in holistic patient management...
August 2017: Herz
https://www.readbyqxmd.com/read/28464769/adult-stem-cell-therapy-for-cardiac-repair-in-patients-after-acute-myocardial-infarction-leading-to-ischemic-heart-failure-an-overview-of-evidence-from-the-recent-clinical-trials
#20
Katarzyna Rygiel
Cardiovascular diseases (CVD) still represent the leading cause of mortality worldwide, despite the remarkable advances in interventional cardiology, cardiac surgery, and modern pharmacotherapy, particularly in the setting of acute myocardial infarction (AMI), chronic ischemic heart failure (HF), cardiomyopathy (CM), and the associated left ventricular (LV) dysfunction. A significant loss of cardiomyocytes that underlies all of these conditions was previously considered irreversible. However, current evidence indicates that the human heart has some potential for repair, and over the past decade, many research studies have been exploring the use of stem cells (SCs) to facilitate restoration of myocardium...
May 1, 2017: Current Cardiology Reviews
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