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Dilated cardiomyopathy

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https://www.readbyqxmd.com/read/29474540/speg-deficient-skeletal-muscles-exhibit-abnormal-triad-and-defective-calcium-handling
#1
Virginia Huntoon, Jeffrey J Widrick, Colline Sanchez, Samantha M Rosen, Candice Kutchukian, Siqi Cao, Christopher R Pierson, Xiaoli Liu, Mark A Perrella, Alan H Beggs, Vincent Jacquemond, Pankaj B Agrawal
Centronuclear myopathies (CNM) are a subtype of congenital myopathies (CM) characterized by skeletal muscle weakness and an increase in the number of central myonuclei. We have previously identified three CNM probands, two with associated dilated cardiomyopathy, carrying striated preferentially expressed gene (SPEG) mutations. Currently, the role of SPEG in skeletal muscle function is unclear as constitutive SPEG-deficient mice developed severe dilated cardiomyopathy and died in-utero. We have generated a conditional Speg-KO mouse model and excised Speg by crosses with striated muscle-specific cre-expressing mice (MCK-Cre)...
February 20, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29473817/na-h-exchanger-isoform-1-induced-osteopontin-expression-facilitates-cardiac-hypertrophy-through-p90-ribosomal-s6-kinase
#2
Nabeel Abdulrahman, Béatrice Jaspard Vinassa, Larry Fliegel, Ayesha Jabeen, Sadaf Riaz, Alain-Pierre Gadeau, Fatima Mraiche
Cardiovascular diseases are the leading cause of death worldwide. One in three cases of heart failure is due to dilated cardiomyopathy. The Na+ /H+ exchanger isoform 1 (NHE1), a multifunctional protein and the key pH regulator in the heart, has been demonstrated to be increased in this condition. We have previously demonstrated that elevated NHE1 activity induced cardiac hypertrophy in vivo. Furthermore, the overexpression of active NHE1 elicited modulation of gene expression in cardiomyocytes including an upregulation of myocardial osteopontin (OPN) expression...
February 23, 2018: Physiological Genomics
https://www.readbyqxmd.com/read/29473159/developmental-and-degenerative-cardiac-defects-in-the-taiwanese-mouse-model-of-severe-spinal-muscular-atrophy
#3
Gillian K Maxwell, Eva Szunyogova, Hannah K Shorrock, Thomas H Gillingwater, Simon H Parson
Spinal muscular atrophy (SMA), an autosomal recessive disease caused by a decrease in levels of the survival motor neuron (SMN) protein, is the most common genetic cause of infant mortality. Although neuromuscular pathology is the most severe feature of SMA, other organs and tissues, including the heart, are also known to be affected in both patients and animal models. Here, we provide new insights into changes occurring in the heart, predominantly at pre- and early symptomatic ages, in the Taiwanese mouse model of severe SMA...
February 22, 2018: Journal of Anatomy
https://www.readbyqxmd.com/read/29471264/collective-transcriptomic-deregulation-of-hypertrophic-and-dilated-cardiomyopathy-importance-of-fibrotic-mechanism-in-heart-failure
#4
Beutline Malgija, Nachimuthu Senthil Kumar, Shanmughavel Piramanayagam
Myocardial fibrosis reside a common pathological feature in hypertrophic and dilated cardiomyopathy that results in ventricular dysfunction leading to heart failure. Though several studies reported the role of fibrosis in cardiac diseases, their pathologic mechanisms leading to heart failure remains unclear. A few studies have proposed integrated analysis of microarray information and protein-protein interaction (PPI) systems to discover subnetwork markers related to diagnosis and prognosis of the disease. In addition to PPI networks, we incorporated miRNAs and transcription factors to find the putative miRNAs and transcription factors that might regulate the pathological process and progression of cardiomyopathy and their further progression to heart failure...
February 10, 2018: Computational Biology and Chemistry
https://www.readbyqxmd.com/read/29468383/effect-of-levocarnitine-on-the-therapeutic-efficacy-of-conventional-therapy-in-children-with-dilated-cardiomyopathy-results-of-a-randomized-trial-in-29-children
#5
Yuwen Wang, Yi Xu, Runmei Zou, Lijia Wu, Ping Liu, Hong Yang, Zhenwu Xie, Cheng Wang
BACKGROUND: The effect of levocarnitine supplementation has not been evaluated in children with dilated cardiomyopathy (DCM). OBJECTIVE: The aim of this study was to explore the effect of oral levocarnitine supplementation in pediatric patients with DCM. METHODS: Twenty-nine children with DCM (17 male, 12 female, aged 1 month to 13 years) were divided into two groups according to a simple randomization: control group (n = 10) and experimental group (n = 19)...
February 21, 2018: Paediatric Drugs
https://www.readbyqxmd.com/read/29465824/left-ventricular-chamber-geometry-in-cardiomyopathies-insights-from-a-computerized-anatomical-study
#6
Paulo Sérgio Juliani, João-Carlos Das-Neves-Pereira, Rosangela Monteiro, Aristides Tadeu Correia, Luiz Felipe Pinho Moreira, Fabio Biscegli Jatene
AIMS: Some authors have hypothesized that left ventricular chamber dilatation in ischaemic and idiopathic cardiomyopathies results in spherical transformation. Aiming to characterize how this transformation occurs, a study was performed by comparing normal and dilated specimens regarding sphericity and proportionality in left heart chambers. It is important to provide data for the development of therapeutic strategies in these diseases. METHODS AND RESULTS: An anatomical study was performed by comparing normal (n = 10), ischaemic (n = 15), and idiopathic (n = 18) dilated human cardiomyopathic specimens regarding left ventricular chambers and their segmental proportionality to normal hearts...
February 21, 2018: ESC Heart Failure
https://www.readbyqxmd.com/read/29463717/sarcomeric-perturbations-of-myosin-motors-lead-to-dilated-cardiomyopathy-in-genetically-modified-myl2-mice
#7
Chen-Ching Yuan, Katarzyna Kazmierczak, Jingsheng Liang, Zhiqun Zhou, Sunil Yadav, Aldrin V Gomes, Thomas C Irving, Danuta Szczesna-Cordary
Dilated cardiomyopathy (DCM) is a devastating heart disease that affects about 1 million people in the United States, but the underlying mechanisms remain poorly understood. In this study, we aimed to determine the biomechanical and structural causes of DCM in transgenic mice carrying a novel mutation in the MYL2 gene, encoding the cardiac myosin regulatory light chain. Transgenic D94A (aspartic acid-to-alanine) mice were created and investigated by echocardiography and invasive hemodynamic and molecular structural and functional assessments...
February 20, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29460890/-increased-myocardial-expression-of-toll-like-receptors-2-and-9-as-a-marker-of-active-myocarditis-and-a-possible-predictor-of-therapeutic-effectiveness
#8
E A Kogan, O V Blagova, N M Faizullina, A V Nedostup, V A Sulimov
AIM: to investigate the myocardial expression of some structural proteins and markers of cellular proliferation and innate immunity for assessing their possible diagnostic and prognostic role in patients with chronic myocarditis. SUBJECTS AND METHODS: The investigation enrolled 23 patients (16 men; mean age, 52.0±12.4 years (range, 27 to 73) with various forms of noncoronarogenic myocardial injury who underwent right ventricular endomyocardial biopsy (n=4), intraoperative left ventricular biopsy (n=17) or autopsy (n=2)...
2018: Arkhiv Patologii
https://www.readbyqxmd.com/read/29460722/cutaneous-toxicity-in-a-laboratory-beagle-canis-lupus-familiaris-after-chronic-administration-of-doxorubicin-hydrochloride
#9
Kathryn A Guerriero, Steven R Wilson, Nabil E Boutagy, Chi Liu, Albert J Sinusas, Caroline J Zeiss
An adult female beagle (Canis lupus familiaris) used in a model of doxorubicin-induced cardiomyopathy presented with epithelial desquamation on the shoulders and ventrum after receiving the 8th weekly intravenous dose of the free form of doxorubicin (20 mg/m2; total accumulation, 160 mg/m2). The lesions were empirically treated with topical disinfectants and topical and systemic antibiotics. Despite treatment, the lesions progressed and ulcerated. Bacterial culture revealed Staphylococcus aureus, but trichogram, skin scraping, and fungal culture were negative for microorganisms...
February 1, 2018: Comparative Medicine
https://www.readbyqxmd.com/read/29458056/alcohol-and-cv-health-jekyll-and-hyde-j-curves
#10
REVIEW
Evan L O'Keefe, James J Di Nicolantonio, James H O'Keefe, Carl J Lavie
A routine of light or moderate alcohol consumption (≤1 drink/day for women and 1 to 2 drinks/day for men) were associated with a lower risk for all-cause mortality, coronary artery disease (CAD), type 2 diabetes mellitus (T2D), heart failure (HF), and stroke. Conversely, heavy drinking, (>4 drinks/day) is associated with an increased risk for death and cardiovascular (CV) disease (CVD). Excessive alcohol intake trails behind only smoking and obesity among the 3 leading causes of premature deaths in the United States (US)...
February 16, 2018: Progress in Cardiovascular Diseases
https://www.readbyqxmd.com/read/29457878/genetic-determinants-of-heart-failure-facts-and-numbers
#11
EDITORIAL
Frauke S Czepluch, Bernd Wollnik, Gerd Hasenfuß
The relevance of gene mutations leading to heart diseases and hence heart failure has become evident. The risk for and the course of heart failure depends on genomic variants and mutations underlying the so-called genetic predisposition. Genetic contribution to heart failure is highly heterogenous and complex. For any patient with a likely inherited heart failure syndrome, genetic counselling is recommended and important. In the last few years, novel sequencing technologies (named next-generation sequencing - NGS) have dramatically improved the availability of molecular testing, the efficiency of genetic analyses, and moreover reduced the cost for genetic testing...
February 19, 2018: ESC Heart Failure
https://www.readbyqxmd.com/read/29452709/late-restored-cardiac-function-after-successful-resynchronization-by-right-posterior-accessory-pathway-ablation-in-wolff-parkinson-white-syndrome-associated-dilated-cardiomyopathy
#12
Kun-Lang Wu, Shuenn-Nan Chiu, Chun-An Chen, Chun-Wei Lu, Wei-Chieh Tseng, Jou-Kou Wang, Mei-Hwan Wu
No abstract text is available yet for this article.
February 8, 2018: Journal of Electrocardiology
https://www.readbyqxmd.com/read/29445930/zbtb17-loss-of-function-mutation-contributes-to-familial-dilated-cardiomyopathy
#13
Yu-Min Sun, Jun Wang, Ying-Jia Xu, Xin-Hua Wang, Fang Yuan, Hua Liu, Ruo-Gu Li, Min Zhang, Yan-Jie Li, Hong-Yu Shi, Liang Zhao, Xing-Biao Qiu, Xin-Kai Qu, Yi-Qing Yang
Dilated cardiomyopathy (DCM) is a common primary myocardial disease leading to congestive heart failure, arrhythmia and sudden cardiac death. Increasing studies demonstrate substantial genetic determinants for DCM. Nevertheless, DCM is of substantial genetic heterogeneity, and the genetic basis for DCM in most patients remains unclear. The present study was sought to investigate the association of a genetic variant in the ZBTB17 gene with DCM. A cohort of 158 unrelated patients with idiopathic DCM and a total of 230 unrelated, ethnically matched healthy individuals used as controls were recruited...
February 14, 2018: Heart and Vessels
https://www.readbyqxmd.com/read/29440008/novel-%C3%AE-actin-gene-mutation-p-ala21val-causing-familial-hypertrophic-cardiomyopathy-myocardial-noncompaction-and-transmural-crypts-clinical-pathologic-correlation
#14
Andrea Frustaci, Alessandro De Luca, Valentina Guida, Tommaso Biagini, Tommaso Mazza, Carlo Gaudio, Claudio Letizia, Matteo Antonio Russo, Nicola Galea, Cristina Chimenti
BACKGROUND: Mutations of α-actin gene (ACTC1) have been phenotypically related to various cardiac anomalies, including hypertrophic cardiomyopathy and dilated cardiomyopathy and left ventricular (LV) myocardial noncompaction. A novel ACTC mutation is reported as cosegregating for familial hypertrophic cardiomyopathy and LV myocardial noncompaction with transmural crypts. METHODS AND RESULTS: In an Italian family of 7 subjects, 4 aged 10 (II-1), 14 (II-2), 43 (I-4) and 46 years (I-5), presenting abnormal ECG changes, dyspnea and palpitation (II-2, I-4, and I-5), and recurrent cerebral ischemic attack (I-5), underwent 2-dimensional echo, cardiac magnetic resonance, Holter monitoring, and next-generation sequencing gene analysis...
February 10, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29438398/proteomics-analysis-identified-peroxiredoxin-2-involved-in-early-phase-left-ventricular-impairment-in-hamsters-with-cardiomyopathy
#15
Kentaro Kuzuya, Sahoko Ichihara, Yuka Suzuki, Chisa Inoue, Gaku Ichihara, Syota Kurimoto, Shinji Oikawa
Given the hypothesis that inflammation plays a critical role in the progression of cardiovascular diseases, the aim of the present study was to identify new diagnostic and prognostic biomarkers of myocardial proteins involved in early-phase cardiac impairment, using proteomics analysis. Using the two-dimensional fluorescence difference gel electrophoresis (2D-DIGE) combined with MALDI-TOF/TOF tandem mass spectrometry, we compared differences in the expression of proteins in the whole left ventricles between control hamsters, dilated cardiomyopathic hamsters (TO-2), and hypertrophy cardiomyopathic hamsters (Bio14...
2018: PloS One
https://www.readbyqxmd.com/read/29434624/improvement-of-increased-cqtd-is-associated-with-heart-function-in-patients-with-ischemic-heart-failure
#16
Hui Guo, Miao Wang, Juan Zhao, Jing Liu, Jie-Mei Yang
Background: Chronic heart failure (CHF) is life-threatening without timely or effective intervention. In this study, we investigated the association between QT dispersion corrected for heart rate (cQTd) and heart function in patients with CHF. Methods: From January 2013 to December 2015, we continuously enrolled 240 patients categorized as New York Heart Association functional class (NYHA) III-IV with a left ventricular ejection fraction (LVEF) < 40%. Based on the etiology, the patients were divided into a dilated cardiomyopathy (DCM) group ( n = 120) and an ischemic cardiomyopathy (ICM) group ( n = 120)...
January 2018: Journal of Geriatric Cardiology: JGC
https://www.readbyqxmd.com/read/29433343/cardiac-specific-expression-of-%C3%A2-h2-r15-mini-dystrophin-normalized-all-ecg-abnormalities-and-the-end-diastolic-volume-in-a-23-m-old-mouse-model-of-duchenne-dilated-cardiomyopathy
#17
Nalinda B Wasala, Jin-Hong Shin, Yi Lai, Yongping Yue, Federica Montanaro, Dongsheng Duan
Heart disease is a major health threat for Duchenne/Becker muscular dystrophy patients and carriers. Expression of a 6 to 8-kb mini-dystrophin gene in the heart holds promise to dramatically change the disease course. However the mini-dystrophin gene cannot be easily studied with adeno-associated virus (AAV) gene delivery because the size of the minigene exceeds AAV packaging capacity. We previously studied cardiac protection of the ∆H2-R19 minigene using the cardiac specific transgenic approach. Although this minigene fully normalized skeletal muscle force, it only partially corrected ECG and heart hemodynamics in dystrophin-null mdx mice that had moderate cardiomyopathy...
February 13, 2018: Human Gene Therapy
https://www.readbyqxmd.com/read/29432453/clinical-findings-and-prognosis-of-patients-hospitalized-for-acute-decompensated-heart-failure-analysis-of-the-influence-of-chagas-etiology-and-ventricular-function
#18
Caíque Bueno Terhoch, Henry Fukuda Moreira, Silvia Moreira Ayub-Ferreira, Germano Emilio Conceição-Souza, Vera Maria Cury Salemi, Paulo Roberto Chizzola, Mucio Tavares Oliveira, Silvia Helena Gelas Lage, Edimar Alcides Bocchi, Victor Sarli Issa
AIMS: Explore the association between clinical findings and prognosis in patients with acute decompensated heart failure (ADHF) and analyze the influence of etiology on clinical presentation and prognosis. METHODS AND RESULTS: Prospective cohort of 500 patients admitted with ADHF from Aug/2013-Feb/2016; patients were predominantly male (61.8%), median age was 58 (IQ25-75% 47-66 years); etiology was dilated cardiomyopathy in 141 (28.2%), ischemic heart disease in 137 (27...
February 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29431384/cardiomyopathy-an-overview
#19
Jay Brieler, Matthew A Breeden, Jane Tucker
The definition and classification of cardiomyopathy have evolved considerably in recent years. Cardiomyopathy can be separated into primary (genetic, mixed, or acquired) and secondary categories, which result in varied phenotypes including dilated, hypertrophic, and restrictive patterns. Hypertrophic cardiomyopathy is the most common primary cardiomyopathy and can cause exertional dyspnea, presyncope, atypical chest pain, heart failure, and sudden cardiac death. Dilated cardiomyopathy can be genetic or acquired and typically presents with classic symptoms of heart failure with reduced ejection fraction...
November 15, 2017: American Family Physician
https://www.readbyqxmd.com/read/29431102/pediatric-dilated-cardiomyopathy-associated-lrrc10-leucine-rich-repeat-containing-10-variant-reveals-lrrc10-as-an-auxiliary-subunit-of-cardiac-l-type-ca2-channels
#20
Marites T Woon, Pamela A Long, Louise Reilly, Jared M Evans, Alexis M Keefe, Martin R Lea, Carl J Beglinger, Ravi C Balijepalli, Youngsook Lee, Timothy M Olson, Timothy J Kamp
BACKGROUND: Genetic causes of dilated cardiomyopathy (DCM) are incompletely understood. LRRC10 (leucine-rich repeat-containing 10) is a cardiac-specific protein of unknown function. Heterozygous mutations in LRRC10 have been suggested to cause DCM, and deletion of Lrrc10 in mice results in DCM. METHODS AND RESULTS: Whole-exome sequencing was carried out on a patient who presented at 6 weeks of age with DCM and her unaffected parents, filtering for rare, deleterious, recessive, and de novo variants...
February 3, 2018: Journal of the American Heart Association
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