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Cardiomyopathy

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https://www.readbyqxmd.com/read/28102864/transthyretin-v122i-pv142i-cardiac-amyloidosis-an-age-dependent-autosomal-dominant-cardiomyopathy-too-common-to-be-overlooked-as-a-cause-of-significant-heart-disease-in-elderly-african-americans
#1
REVIEW
Joel N Buxbaum, Frederick L Ruberg
Since the identification of a valine-to-isoleucine substitution at position 122 (TTR V122I; pV142I) in the transthyretin (TTR)-derived fibrils extracted from the heart of a patient with late-onset cardiac amyloidosis, it has become clear that the amyloidogenic mutation and the disease occur almost exclusively in individuals of identifiable African descent. In the United States, the amyloidogenic allele frequency is 0.0173 and is carried by 3.5% of community-dwelling African Americans. Genotyping across Africa indicates that the origin of the allele is in the West African countries that were the major source of the slave trade to North America...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28102630/enzyme-therapy-for-hypertrophic-cardiomyopathy-in-non-classical-pompe-disease-effectiveness-of-treatment
#2
Jiyoung Kim, Hyemin Kim, Lucy Youngmin Eun
No abstract text is available yet for this article.
January 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28102598/novel-findings-of-left-ventricular-non-compaction-cardiomyopathy-microform-cleft-lip-and-poor-vision-in-patient-with-smc1a-associated-cornelia-de-lange-syndrome
#3
Tara L Wenger, Penny Chow, Stephanie C Randle, Anna Rosen, Craig Birgfeld, Joanna Wrede, Patrick Javid, Darcy King, Vivian Manh, Anne V Hing, Erin Albers
Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with SMC1A-associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102477/potential-new-mechanisms-of-pro-arrhythmia-in-arrhythmogenic-cardiomyopathy-focus-on-calcium-sensitive-pathways
#4
REVIEW
C J M van Opbergen, M Delmar, T A B van Veen
Arrhythmogenic cardiomyopathy, or its most well-known subform arrhythmogenic right ventricular cardiomyopathy (ARVC), is a cardiac disease mainly characterised by a gradual replacement of the myocardial mass by fibrous and fatty tissue, leading to dilatation of the ventricular wall, arrhythmias and progression towards heart failure. ARVC is commonly regarded as a disease of the intercalated disk in which mutations in desmosomal proteins are an important causative factor. Interestingly, the Dutch founder mutation PLN R14Del has been identified to play an additional, and major, role in ARVC patients within the Netherlands...
January 19, 2017: Netherlands Heart Journal
https://www.readbyqxmd.com/read/28101919/lost-in-markers-time-for-phenomics-and-phenomapping-in-dilated-cardiomyopathy
#5
EDITORIAL
Sophie Van Linthout, Carsten Tschöpe
No abstract text is available yet for this article.
January 19, 2017: European Journal of Heart Failure
https://www.readbyqxmd.com/read/28101623/-102-patients-with-suspected-myocarditis-clinical-presentation-diagnostics-therapy-and-prognosis
#6
S Streuber, F Noack, D Stoevesandt, A Schlitt
INTRODUCTION: Myocarditis is a disease which is difficult to diagnose and which includes a risk of the development of dilated cardiomyopathy and sudden cardiac death. METHODS AND PATIENTS: In this study 102 patients were included from the time period 2003-2013 after diagnosis or suspected diagnosis of myocarditis in the department of internal medicine at the University Hospital Halle (Saale). RESULTS: Of the study participants 77.5% were male and the average age was 35...
January 18, 2017: Herz
https://www.readbyqxmd.com/read/28101152/the-association-between-herg-gene-expression-and-cardiac-arrhythmia-disease-in-children
#7
Mingyu Fu, Chunli Li, Qingwen Wang, Yan Wang, Xinjiang An
We explored the possible link between the expression of HERG gene and cardiomyopathy in children. From April 2013 to April 2015, 73 children with cardiac arrhythmia who were treated were enrolled in the present study to serve as the observation group. At the same time, 76 normal individuals were also enrolled as the control group. HERG expression level in the observation group was compared with the control group. To determine the level of HERG gene expression we used fluorescent directional PCR, enzyme immunoassay and western blot analysis...
December 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28100964/comparative-efficacy-of-nebivolol-and-metoprolol-to-prevent-tachycardia-induced-cardiomyopathy-in-a-porcine-model
#8
Alireza Nazeri, MacArthur A Elayda, Ana Maria Segura, Raymond F Stainback, Joanna Nathan, Vei-Vei Lee, Christina Bove, Luiz Sampaio, Brian Grace, Ali Massumi, Mehdi Razavi
Chronic tachycardia is a well-known cause of nonischemic cardiomyopathy. We hypothesized that nebivolol, a β-blocker with nitric oxide activity, would be superior to a pure β-blocker in preventing tachycardia-induced cardiomyopathy in a porcine model. Fifteen healthy Yucatan pigs were randomly assigned to receive nebivolol, metoprolol, or placebo once a day. All pigs underwent dual-chamber pacemaker implantation. The medication was started the day after the pacemaker implantation. On day 7 after implantation, each pacemaker was set at atrioventricular pace (rate, 170 beats/min), and the pigs were observed for another 7 weeks...
December 2016: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28100362/-severe-obstructive-sleep-apnea-hypopnea-syndrome-with-dilated-cardiomyopathy-leading-to-pulmonary-hypertension-case-report-and-literature-review
#9
R K Chen, C Hong, Y M Zhou, A L Kuang, Y T Zhang, S M Qing, C L Liu, N F Zhang
Objective: To study the relationship between dilated cardiomyopathy and obstructive sleep apnea-hypopnea syndrome (OSAHS) and to evaluate the curative effects of continuous positive airway pressure (CPAP) in OSAHS complicated with dilated cardiomyopathy. Methods: We reported one case with the symptom of exertional dyspnea for 1 year and aggravating for 1 month. The patient finally was diagnosed with severe OSAHS complicated with dilated cardiomyopathy leading to pulmonary hypertension. A systematic literature review was performed for similar published cases in Pubmed, Wanfang and CNKI database, using the keywords (obstructive sleep apnea) OR(OSA) OR(OSAHS) AND(dilated cardiomyopathy OR DCM)from January 1990 to May 2016...
January 12, 2017: Chinese Journal of Tuberculosis and Respiratory Diseases
https://www.readbyqxmd.com/read/28100349/-a-case-of-apical-hypertrophic-cardiomyopathy-complicated-with-apical-aneurysm
#10
L Li, S H Zhao
No abstract text is available yet for this article.
January 25, 2017: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/28100277/stress-echo-2020-the-international-stress-echo-study-in-ischemic-and-non-ischemic-heart-disease
#11
Eugenio Picano, Quirino Ciampi, Rodolfo Citro, Antonello D'Andrea, Maria Chiara Scali, Lauro Cortigiani, Iacopo Olivotto, Fabio Mori, Maurizio Galderisi, Marco Fabio Costantino, Lorenza Pratali, Giovanni Di Salvo, Eduardo Bossone, Francesco Ferrara, Luna Gargani, Fausto Rigo, Nicola Gaibazzi, Giuseppe Limongelli, Giuseppe Pacileo, Maria Grazia Andreassi, Bruno Pinamonti, Laura Massa, Marco A R Torres, Marcelo H Miglioranza, Clarissa Borguezan Daros, José Luis de Castro E Silva Pretto, Branko Beleslin, Ana Djordjevic-Dikic, Albert Varga, Attila Palinkas, Gergely Agoston, Dario Gregori, Paolo Trambaiolo, Sergio Severino, Ayana Arystan, Marco Paterni, Clara Carpeggiani, Paolo Colonna
BACKGROUND: Stress echocardiography (SE) has an established role in evidence-based guidelines, but recently its breadth and variety of applications have extended well beyond coronary artery disease (CAD). We lack a prospective research study of SE applications, in and beyond CAD, also considering a variety of signs in addition to regional wall motion abnormalities. METHODS: In a prospective, multicenter, international, observational study design, > 100 certified high-volume SE labs (initially from Italy, Brazil, Hungary, and Serbia) will be networked with an organized system of clinical, laboratory and imaging data collection at the time of physical or pharmacological SE, with structured follow-up information...
January 18, 2017: Cardiovascular Ultrasound
https://www.readbyqxmd.com/read/28099954/an-evolution-of-management-in-hypertrophic-cardiomyopathy-myectomy-alcohol-septal-ablation-mitral-valve-replacement-mitraclip
#12
Konstantinos Dean Boudoulas, Harisios Boudoulas
No abstract text is available yet for this article.
January 19, 2017: Cardiology
https://www.readbyqxmd.com/read/28099279/new-survival-target-for-duchenne-muscular-dystrophy
#13
Marcello Villanova, Sifa Kazibwe
We report a patient with a typical phenotype and clinical history of Duchenne muscular dystrophy who is currently 53 years old. Because of improvements in cardiopulmonary care, there has been a great improvement in survival and preservation of quality of life for many of these patients. Whereas it is no longer rare to find patients with Duchenne muscular dystrophy living into their fifth decade, this is the first report of a patient in his sixth decade of life. We believe that besides use of continuous noninvasive respiratory support, the fortuitous absence of dilated cardiomyopathy associated with the particular point mutation of his dystrophin gene has permitted prolonged survival...
February 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28099117/casz1-loss-of-function-mutation-contributes-to-familial-dilated-cardiomyopathy
#14
Xing-Biao Qiu, Xin-Kai Qu, Ruo-Gu Li, Hua Liu, Ying-Jia Xu, Min Zhang, Hong-Yu Shi, Xu-Min Hou, Xu Liu, Fang Yuan, Yu-Min Sun, Jun Wang, Ri-Tai Huang, Song Xue, Yi-Qing Yang
BACKGROUND: The zinc finger transcription factor CASZ1 plays a key role in cardiac development and postnatal adaptation, and in mice, deletion of the CASZ1 gene leads to dilated cardiomyopathy (DCM). However, in humans whether genetically defective CASZ1 contributes to DCM remains unclear. METHODS: The coding exons and splicing junction sites of the CASZ1 gene were sequenced in 138 unrelated patients with idiopathic DCM. The available family members of the index patient harboring an identified CASZ1 mutation and 200 unrelated, ethnically matched healthy individuals used as controls were genotyped for CASZ1...
January 18, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28098235/molecular-characterization-of-pediatric-restrictive-cardiomyopathy-from-integrative-genomics
#15
Tara N Rindler, Robert B Hinton, Nathan Salomonis, Stephanie M Ware
Pediatric restrictive cardiomyopathy (RCM) is a genetically heterogeneous heart disease with limited therapeutic options. RCM cases are largely idiopathic; however, even within families with a known genetic cause for cardiomyopathy, there is striking variability in disease severity. Although accumulating evidence implicates both gene expression and alternative splicing in development of dilated cardiomyopathy (DCM), there have been no detailed molecular characterizations of underlying pathways dysregulated in RCM...
January 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28097728/dabigatran-etexilate-in-a-vitamin-k-antagonist-non-responder-patient-during-heartware-hvad-support
#16
Andrea Baronetto, Paolo Centofanti, Matteo Attisani, Massimo Boffini, Davide Ricci, Erika Simonato, Mauro Rinaldi
We report a case of a patient supported with a HeartWare left ventricular assist device for idiopathic cardiomyopathy who was resistance to vitamin-K antagonists three months after implantation. The patient initially started low-molecular-weight heparin therapy and then, after the onset of an ischemic stroke, switched to dabigatran etexilate (DE). The patient had progressive recovery of cardiac function for which the device was explanted. No thrombotic or bleeding events occurred during DE therapy.
January 17, 2017: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/28097671/junctional-ectopic-tachycardia-localization-and-procedural-approach-using-cryoablation
#17
Alyson R Pierick, Ian H Law, Jennifer R Muldonado, Nicholas H VON Bergen
BACKGROUND: Idiopathic junctional ectopic tachycardia (JET) may still be difficult to control with antiarrhythmic therapy. Transcatheter ablation can be challenging and may be associated with a high risk of unintended AV block. The objective of this manuscript is to report the procedural technique, the location of the successful ablation and the procedural characteristics while utilizing 3D mapping for cryoablation of JET. METHODS: A retrospective analysis was performed on all patients who had undergone cryothermal ablation for the treatment of JET at a single center...
January 18, 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/28097477/spect-perfusion-abnormality-associated-with-arrhythmogenic-right-ventricular-cardiomyopathy
#18
Charles Hardebeck, Akira Wada, Gbemiga Sofowora
No abstract text is available yet for this article.
January 17, 2017: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/28097329/quantifying-disease-progression-in-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy-key-to-advancing-therapy
#19
Wojciech Zareba
No abstract text is available yet for this article.
January 11, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28097316/evaluation-of-structural-progression-in-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy
#20
Thomas P Mast, Cynthia A James, Hugh Calkins, Arco J Teske, Crystal Tichnell, Brittney Murray, Peter Loh, Stuart D Russell, Birgitta K Velthuis, Daniel P Judge, Dennis Dooijes, Ryan J Tedford, Jeroen F van der Heijden, Harikrishna Tandri, Richard N Hauer, Theodore P Abraham, Pieter A Doevendans, Anneline S J M Te Riele, Maarten J Cramer
Importance: Considerable research has described the arrhythmic course of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). However, objective data characterizing structural progression, such as ventricular enlargement and cardiac dysfunction, in ARVD/C are relatively scarce. Objectives: To define the extent of structural progression, identify determinants of structural progression, and determine the association between structural progression and electrocardiographic (ECG) changes in patients with ARVD/C...
January 11, 2017: JAMA Cardiology
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