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https://www.readbyqxmd.com/read/29050118/-gene-mutation-and-clinical-phenotype-analysis-of-patients-with-noonan-syndrome-and-hypertrophic-cardiomyopathy
#1
X H Liu, W W Ding, L Han, X R Liu, Y Y Xiao, J Yang, Y Mo
Objective: To analyze the gene mutations and clinical features of patients with Noonan syndrome and hypertrophic cardiomyopathy. Method: Determined the mutation domain in five cases diagnosed with Noonan syndrome and hypertrophic cardiomyopathy and identified the relationship between the mutant domain and hypertrophic cardiomyopathy by searching relevant articles in pubmed database. Result: Three mutant genes (PTPN11 gene in chromosome 12, RIT1 gene in chromosome 1 and RAF1 gene in chromosome 3) in five cases all had been reported to be related to hypertrophic cardiomyopathy...
October 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29049825/comparison-of-clinical-characteristics-and-outcomes-of-peripartum-cardiomyopathy-between-african-american-and-non-african-american-women
#2
Olga Corazón Irizarry, Lisa D Levine, Jennifer Lewey, Theresa Boyer, Valerie Riis, Michal A Elovitz, Zolt Arany
Importance: Peripartum cardiomyopathy (PPCM) disproportionately affects women of African ancestry, but well-powered studies to explore differences in severity of disease and clinical outcomes are lacking. Objective: To compare the clinical characteristics, presentation, and outcomes of PPCM between African American and non-African American women. Design, Setting, and Participants: This retrospective cohort study using data from January 1, 1986, through December 31, 2016, performed at the University of Pennsylvania Health System, a tertiary referral center serving a population with a high proportion of African American individuals, included 220 women with PPCM...
October 11, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/29049487/poor-outcomes-in-poor-patients-peripartum-cardiomyopathy-not-just-black-and-white
#3
Johann Bauersachs
No abstract text is available yet for this article.
October 11, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/29048471/a-new-staging-system-for-cardiac-transthyretin-amyloidosis
#4
Julian D Gillmore, Thibaud Damy, Marianna Fontana, Matthew Hutchinson, Helen J Lachmann, Ana Martinez-Naharro, Candida C Quarta, Tamer Rezk, Carol J Whelan, Esther Gonzalez-Lopez, Thirusha Lane, Janet A Gilbertson, Dorota Rowczenio, Aviva Petrie, Philip N Hawkins
Aims: Cardiac transthyretin (ATTR) amyloidosis is an increasingly recognized, progressive, and fatal cardiomyopathy, the natural history of which remains unclear. We sought to establish and validate a new prognostic staging system applicable to patients with both wild-type ATTR (ATTRwt) and hereditary variant ATTR (ATTRv) amyloid cardiomyopathy. Methods and results: Eight hundred and sixty-nine patients with cardiac ATTR amyloidosis (553 with ATTRwt and 316 with ATTRv) attending the UK National Amyloidosis Centre were stratified into three disease stages at baseline on the basis of cut points in two universally measured biomarkers, N-terminal pro-B-type natriuretic peptide (NT-proBNP) and estimated glomerular filtration rate (eGFR)...
October 18, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29047356/non-syndromic-cardiac-progeria-in-a-patient-with-the-rare-pathogenic-p-asp300asn-variant-in-the-lmna-gene
#5
Ali J Marian
BACKGROUND: Mutations in LMNA gene, encoding Lamin A/C, cause a diverse array of phenotypes, collectively referred to as laminopathies. The most common manifestation is dilated cardiomyopathy (DCM), occurring in conjunction with variable skeletal muscle involvement but without involvement of the coronary arteries. Much less commonly, LMNA mutations cause progeroid syndromes, whereby an early-onset coronary artery disease (CAD) is the hallmark of the disease. We report a hitherto unreported compound cardiac phenotype, dubbed as "non-syndromic cardiac progeria", in a young patient who carried a rare pathogenic variant in the LMNA gene and developed progressive degeneration of various cardiac structures, as seen in the elderly...
October 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29046207/-clinical-characteristics-and-gaa-gene-mutation-in-children-with-glycogen-storage-disease-type-ii-an-analysis-of-3-cases
#6
Shan Yuan, Jie Jiang, Lu-Ting Zha, Zuo-Cheng Yang
Glycogen storage disease type II (GSD II) is an autosomal recessive disorder caused by a deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA) and can affect multiple systems including the heart and skeletal muscle. The aim of this study was to investigate three children with GSD II confirmed by GAA gene analysis and to report their clinical characteristics and gene mutations. One case was classified as infantile-onset GSD II, and two cases as late-onset GSD II. The infantile-onset patient (aged 4 months) showed no weight increase and had dyspnea, muscle hypotonia, and increased alanine aminotransferase and creatine kinase; echocardiography showed hypertrophic cardiomyopathy...
October 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29045747/extracorporeal-membrane-oxygenation-support-for-right-ventricular-failure-after-left-ventricular-assist-device-implantation
#7
Julia Riebandt, Thomas Haberl, Dominik Wiedemann, R Moayedifar, Thomas Schloeglhofer, Stéphane Mahr, Kamen Dimitrov, Philipp Angleitner, Guenther Laufer, Daniel Zimpfer
OBJECTIVES: Right ventricular (RV) failure complicating left ventricular assist device implantation is associated with increased mortality. Despite a lack of supporting evidence, venoarterial extracorporeal membrane oxygenation (ECMO) support is increasingly being used as an alternative to traditional temporary RV support. We report our institutional experience with ECMO-facilitated RV support after left ventricular assist device implantation. METHODS: We retrospectively reviewed the concept of temporary ECMO support for perioperative RV failure in 32 consecutive left ventricular assist device (mean age 52 ± 14 years; male 84...
October 16, 2017: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/29045589/standardization-of-adult-transthoracic-echocardiography-reporting-in-agreement-with-recent-chamber-quantification-diastolic-function-and-heart-valve-disease-recommendations-an-expert-consensus-document-of-the-european-association-of-cardiovascular-imaging
#8
Maurizio Galderisi, Bernard Cosyns, Thor Edvardsen, Nuno Cardim, Victoria Delgado, Giovanni Di Salvo, Erwan Donal, Leyla Elif Sade, Laura Ernande, Madalina Garbi, Julia Grapsa, Andreas Hagendorff, Otto Kamp, Julien Magne, Ciro Santoro, Alexandros Stefanidis, Patrizio Lancellotti, Bogdan Popescu, Gilbert Habib
Aims: This European Association Cardiovascular Imaging (EACVI) Expert Consensus document aims at defining the main quantitative information on cardiac structure and function that needs to be included in standard echocardiographic report following recent ASE/EACVI chamber quantification, diastolic function, and heart valve disease recommendations. The document focuses on general reporting and specific pathological conditions such as heart failure, coronary artery and valvular heart disease, cardiomyopathies, and systemic diseases...
October 17, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/29045311/cardiac-resynchronization-therapy-outcomes-in-patients-with-chronic-heart-failure-cardiac-resynchronization-therapy-with-pacemaker-versus-cardiac-resynchronization-therapy-with-defibrillator
#9
Michael Drozd, John Gierula, Judith E Lowry, Maria F Paton, Eleanor Joy, Haqeel A Jamil, Richard M Cubbon, Mark T Kearney, David A Cairns, Klaus K Witte
AIMS: Cardiac resynchronization therapy (CRT) for chronic heart failure with left ventricular systolic dysfunction (LVSD) consistently improves survival against optimal medical therapy alone. Limited data exist comparing the outcomes between CRT with pacemaker (CRT-P) and with defibrillator (CRT-D). We aimed to investigate the long-term prognosis of patients who received CRT-P or CRT-D. METHODS AND RESULTS: Data were prospectively collected from consecutive patients with standard indications for CRT, who were implanted at a single large tertiary centre between 2008 and 2012...
October 16, 2017: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/29045290/the-prognostic-implications-of-two-dimensional-speckle-tracking-echocardiography-in-hypertrophic-cardiomyopathy-current-and-future-perspectives
#10
Thomas Zegkos, Despoina Parcharidou, Dimitrios Ntelios, Georgios Efthimiadis, Haralambos Karvounis
Two-dimensional (2D) speckle tracking echocardiography represents a novel, simple and reproducible technique for the estimation of left ventricular myocardial deformation (strain) and the evaluation of left ventricular twist mechanics. During the last few years, its clinical and prognostic implications in cardiomyopathies and hypertrophic cardiomyopathy (HCM) in particular have been rapidly increasing. Reduced global longitudinal strain is associated with more severe disease and confers an increased risk for major cardiac events, independently of other clinical and echocardiographic risk factors...
October 17, 2017: Cardiology in Review
https://www.readbyqxmd.com/read/29045286/ability-of-non-strain-diastolic-parameters-to-predict-doxorubicin-induced-cardiomyopathy-a-systematic-review-with-meta-analysis
#11
Mohamed Nagiub, J V Ian Nixon, Michael C Kontos
Doxorubicin is an important cause of chemotherapy-induced cardiomyopathy. Prior studies have found conflicting results of whether non-strain diastolic parameters can predict doxorubicin- induced cardiotoxicity. We performed a systematic review of English written publications using preferred reporting items for systematic reviews and meta-analysis guidelines (PRISMA). The following inclusion criteria were applied: cancer subjects, echo-derived non-strain diastolic profile, patients compared before and after treatment to predict systolic dysfunction...
October 17, 2017: Cardiology in Review
https://www.readbyqxmd.com/read/29045209/takotsubo-cardiomyopathy
#12
Abhishek Maiti, Abhijeet Dhoble
A 61-year-old woman with hypertension and hypothyroidism presented to the emergency department with acute onset of severe chest pain. She reported multiple recent stressors, including the death of her dog. An electrocardiogram showed ST-segment elevation in the anterolateral leads. Emergency..
October 19, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/29044172/circulating-mir-19b-and-mir-181b-are-potential-biomarkers-for-diabetic-cardiomyopathy
#13
Camila Uribe Copier, Luis León, Mauricio Fernández, David Contador, Sebastián D Calligaris
Diabetic cardiomyopathy is characterized by metabolic changes in the myocardium that promote a slow and silent dysfunction of muscle fibers, leading to myocardium remodelling and heart failure, independently of the presence of coronary artery diseases or hypertension. At present, no imaging methods allow an early diagnosis of this disease. Circulating miRNAs in plasma have been proposed as biomarkers in the prognosis of several cardiac diseases. This study aimed to determine whether circulating miRNAs could be potential biomarkers of diabetic cardiomyopathy...
October 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29042427/predictors-of-death-in-adults-with-duchenne-muscular-dystrophy-associated-cardiomyopathy
#14
Daniel Cheeran, Shaida Khan, Rohan Khera, Anish Bhatt, Sonia Garg, Justin L Grodin, Robert Morlend, Faris G Araj, Alpesh A Amin, Jennifer T Thibodeau, Sandeep Das, Mark H Drazner, Pradeep P A Mammen
BACKGROUND: Duchenne muscular dystrophy (DMD) is frequently complicated by development of a cardiomyopathy. Despite significant medical advances provided to DMD patients over the past 2 decades, there remains a group of DMD patients who die prematurely. The current study sought to identify a set of prognostic factors that portend a worse outcome among adult DMD patients. METHODS AND RESULTS: A retrospective cohort of 43 consecutive patients was followed in the adult UT Southwestern Neuromuscular Cardiomyopathy Clinic...
October 17, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29042423/low-prevalence-of-inappropriate-shocks-in-patients-with-inherited-arrhythmia-syndromes-with-the-subcutaneous-implantable-defibrillator-single-center-experience-and-long-term-follow-up
#15
Boris Rudic, Erol Tülümen, Veronika Berlin, Susanne Röger, Ksenija Stach, Volker Liebe, Ibrahim El-Battrawy, Christina Dösch, Theano Papavassiliu, Ibrahim Akin, Martin Borggrefe, Jürgen Kuschyk
BACKGROUND: Up to 40% of patients with transvenous implantable cardioverter-defibrillator (ICD) experience lead-associated complications and may suffer from high complication rates when lead extraction is indicated. Subcutaneous ICD may represent a feasible alternative; however, the efficacy of the subcutaneous ICD in the detection and treatment of ventricular arrhythmias in patients with hereditary arrhythmia syndromes has not been fully evaluated. METHODS AND RESULTS: Patients with primary hereditary arrhythmia syndromes who fulfilled indication for defibrillator placement were eligible for enrollment...
October 17, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29041921/perioperative-management-of-paraganglioma-and-catecholamine-induced-cardiomyopathy-in-child-a-case-report-and-review-of-the-literature
#16
Xixi Jia, Xiangyang Guo, Qing Zheng
BACKGROUND: Paragangliomas are catecholamine-secreting tumors of the paraganglia. Perioperative mortality of children with paraganglioma is high, but preoperative therapy and anesthetic management of paraganglioma resection are controversial in children. The literatures on catecholamine-induced cardiomyopathy are limited to several case reports,with few reports of studies on children. CASE PRESENTATION: Here we report the anesthetic management of a child with paraganglioma and catecholamine-induced cardiomyopathy, and the possible perioperative anesthesia problems of the paraganglioma resection are discussed...
October 17, 2017: BMC Anesthesiology
https://www.readbyqxmd.com/read/29041910/takotsubo-cardiomyopathy-in-a-patient-with-ileus-a-case-report
#17
Chen-Yu C Guo, Nan-Sung Chou
BACKGROUND: Takotsubo cardiomyopathy (TCM) is a form of stress-induced cardiomyopathy featured by the dilatation of the apex of the left ventricle during systole. Whereas the pathogenesis of this disorder is not well understood, it usually occurs after an emotional or physical stress such as acute asthma, surgery, chemotherapy, and stroke. However, its occurrence in ileus patients is rarely reported. We hereby report probably the first case of TCM after ileus in the literature and discuss its implications...
October 17, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/29040909/treatment-with-fenofibrate-plus-a-low-dose-of-benznidazole-attenuates-cardiac-dysfunction-in-experimental-chagas-disease
#18
Ágata C Cevey, Gerardo A Mirkin, Martín Donato, María J Rada, Federico N Penas, Ricardo J Gelpi, Nora B Goren
Trypanosoma cruzi induces serious cardiac alterations during the chronic infection. Intense inflammatory response observed from the beginning of infection, is critical for the control of parasite proliferation and evolution of Chagas disease. Peroxisome proliferator-activated receptors (PPAR)-α, are known to modulate inflammation. In this study we investigated whether a PPAR-α agonist, Fenofibrate, improves cardiac function and inflammatory parameters in a murine model of T. cruzi infection. BALB/c mice were sequentially infected with two T...
October 7, 2017: International Journal for Parasitology, Drugs and Drug Resistance
https://www.readbyqxmd.com/read/29040463/total-pericardium-agenesis-mistaken-for-arrhythmogenic-right-ventricular-cardiomyopathy
#19
Mikael Laredo, Guillaume Duthoit, Estelle Gandjbakhch, Alban Redheuil, Jean-Louis Hébert
No abstract text is available yet for this article.
October 13, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/29040450/dilated-cardiomyopathy-complicated-with-visceral-heterotaxy
#20
Masaki Tsuji, Eisuke Amiya, Masaru Hatano, Issei Komuro
No abstract text is available yet for this article.
October 13, 2017: European Heart Journal
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