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dilated cardiomyopathy,cardiomyopathy

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https://www.readbyqxmd.com/read/29235529/identification-of-mylk3-mutations-in-familial-dilated-cardiomyopathy
#1
Takashige Tobita, Seitaro Nomura, Hiroyuki Morita, Toshiyuki Ko, Takanori Fujita, Haruhiro Toko, Kenta Uto, Nobuhisa Hagiwara, Hiroyuki Aburatani, Issei Komuro
Dilated cardiomyopathy (DCM) is a primary cause of heart failure, life-threatening arrhythmias, and cardiac death. Pathogenic mutations have been identified at the loci of more than 50 genes in approximately 50% of DCM cases, while the etiologies of the remainder have yet to be determined. In this study, we applied whole exome sequencing in combination with segregation analysis to one pedigree with familial DCM, and identified a read-through mutation (c.2459 A > C; p.*820Sext*19) in the myosin light chain kinase 3 gene (MYLK3)...
December 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29234842/-patients-with-a-wearable-cardioverter-defibrillator-wcd-prescription-function-and-rehabilitation-support
#2
REVIEW
A Schlitt, M Guha, M Noutsias, H H Klein, H U Klein
Assessment of a permanent risk of life-threatening ventricular arrhythmia in patients with severely reduced left ventricular ejection fraction (LVEF <35%), e. g. after myocarditis, dilated cardiomyopathy, acute myocardial infarction, in patients with postpartum cardiomyopathy or implantable cardioverter-defibrillator (ICD) and cardiac resynchronization treatment plus defibrillator (CRT-D) infection with temporary explantation of the system is a medical challenge. This is time-consuming and unsafe because life-threatening ventricular arrhythmias may occur during the time of risk assessment...
December 12, 2017: Herz
https://www.readbyqxmd.com/read/29234032/heat-failure-phenotypes-induced-by-knockdown-of-dapit-in-zebrafish-a-new-insight-into-mechanism-of-dilated-cardiomyopathy
#3
Yoji Nagata, Masakazu Yamagishi, Tetsuo Konno, Chiaki Nakanishi, Yoshihiro Asano, Shin Ito, Yuri Nakajima, Osamu Seguchi, Noboru Fujino, Masa-Aki Kawashiri, Seiji Takashima, Masafumi Kitakaze, Kenshi Hayashi
The pathogenesis of heart failure associated with dilated cardiomyopathy (DCM) may result in part from adenosine triphosphate (ATP) dysregulation in the myocardium. Under these conditions, diabetes-associated protein in insulin-sensitive tissue (DAPIT), which is encoded by the upregulated during skeletal muscle growth 5 (USMG5) gene, plays a crucial role in energy production by mitochondrial ATP synthase. To determine whether USMG5 is related to the development of heart failure, we performed clinical and experimental studies...
December 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29233129/basal-wall-hypercontraction-of-takotsubo-cardiomyopathy-in-a-patient-who-had-been-diagnosed-with-dilated-cardiomyopathy-a-case-report
#4
Noboru Ichihara, Shuichi Fujita, Yumiko Kanzaki, Tomohiro Fujisaka, Michishige Ozeki, Nobukazu Ishizaka
BACKGROUND: Takotsubo cardiomyopathy is characterized by the basal hypercontractility and apical ballooning of the left ventriculum and T-wave inversion in the electrocardiogram. It has been suggested that Takotsubo cardiomyopathy might underlie the pathogenesis of persistent cardiac dysfunction; however, few reports are present demonstrating the advent of Takotsubo cardiomyopathy in patients with idiopathic cardiomyopathy. CASE PRESENTATION: A 64-year-old women was admitted due to dyspnea on effort and lower extremity edema...
December 12, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/29230826/evolution-of-biventricular-loading-condition-in-pediatric-lvad-patient-a-prospective-and-observational-study
#5
Arianna Di Molfetta, Roberta Iacobelli, Sergio Filippelli, Giorgia Grutter, Gianluigi Perri, Francesca Iodice, Luciano Pasquini, Paolo Guccione, Antonio Amodeo
The aim of this study was to describe the echocardiographic trend of left ventricular (LV) and right ventricular (RV) function after implantation of a pulsatile flow left ventricular assist device (LVAD) in children. From 2013 to 2016, we prospectively evaluated 13 consecutive pediatric Berlin Heart EXCOR LVAD patients. Clinical and echocardiographic data were collected at baseline, within 24 h after implantation and monthly until LVAD explant. Median age and weight at the implantation was 8 (4-23) months and 5 (4...
December 12, 2017: Artificial Organs
https://www.readbyqxmd.com/read/29229678/epitope-mapping-of-serca2a-identifies-an-antigenic-determinant-that-induces-mainly-atrial-myocarditis-in-a-j-mice
#6
Bharathi Krishnan, Chandirasegaran Massilamany, Rakesh H Basavalingappa, Arunakumar Gangaplara, Rajkumar A Rajasekaran, Muhammad Z Afzal, Vahid Khalilzad-Sharghi, You Zhou, Jean-Jack Riethoven, Shyam S Nandi, Paras K Mishra, Raymond A Sobel, Jennifer L Strande, David Steffen, Jay Reddy
Sarcoplasmic/endoplasmic reticulum Ca2+ adenosine triphosphatase (SERCA)2a, a critical regulator of calcium homeostasis, is known to be decreased in heart failure. Patients with myocarditis or dilated cardiomyopathy develop autoantibodies to SERCA2a suggesting that they may have pathogenetic significance. In this report, we describe epitope mapping analysis of SERCA2a in A/J mice that leads us to make five observations: 1) SERCA2a contains multiple T cell epitopes that induce varying degrees of myocarditis...
December 11, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29228435/review-of-recent-advances-in-the-management-of-hypertrophic-cardiomyopathy
#7
Y Cao, P-Y Zhang
Hypertrophic cardiomyopathy (HCM) is a complex but common monogenic cardiovascular disorder characterized by unexplained non dilated left ventricular (LV) thickening in the absence of another cardiac or systemic disease. The condition is associated with sudden and unexpected death in young individuals including trained athletes. HCM represents a genetic disorder caused by mutations in genes encoding sarcomeric proteins of the cardiac myocyte. This review article discusses the genetics behind HCM, its clinical presentation, and diagnosis and the present-day pharmacological management of HCM...
November 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29225850/newly-developed-atrial-fibrillation-progresses-to-a-more-severe-intermacs-score-in-a-patient-with-advanced-heart-failure-due-to-dilated-cardiomyopathy
#8
Akihito Saito, Eisuke Amiya, Masaru Hatano, Yumiko Hosoya, Hisataka Maki, Daisuke Nitta, Shun Minatsuki, Masafumi Watanabe, Issei Komuro
We have presented a case of advanced HF, in which newly developed AF hastened the timing of the implantation of mechanical support. Newly developed AF in advanced HF may be intractable by medical therapies and could be a key event that determines the timing of mechanical support.
December 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29224255/the-highest-mortality-rates-in-childhood-dilated-cardiomyopathy-occur-during-the-first-year-after-diagnosis
#9
Shalan Fadl, Håkan Wåhlander, Katja Fall, Yang Cao, Jan Sunnegårdh
AIM: The aim of the study was to assess the incidence, mortality and morbidity of dilated cardiomyopathy (DCM) and non-compaction of the left ventricle (LVNC) in Swedish children. METHODS: We reviewed hospital records of all children with dilated cardiomyopathy (DCM) or left ventricular non-compaction cardiomyopathy (LVNC) up to the age of 18 in the healthcare region of western Sweden from 1991 to 2015. RESULTS: In total, 69 cases (61% males) were identified...
December 9, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/29223945/-heart-transplantation-in-an-hiv-infected-patient
#10
Pablo Mouras, Laura Barcán, César Belziti, Rodolfo Pizarro, Noelia Mañez, Ricardo Marenchino
Because of its own unfavourable evolution, HIV infection was until recently considered a contraindication for organ transplantation. The introduction of highly active antiretroviral therapy prolonged the life expectancy of these patients and allowed the manifestation of disorders directly or indirectly related to HIV infection, mainly liver, kidney and cardiovascular diseases. We present a case of cardiac transplantation due to dilated cardiomyopathy that was performed in a patient with a recently detected HIV infection...
2017: Medicina
https://www.readbyqxmd.com/read/29221681/hypercalcemic-crisis-and-primary-hyperparathyroidism-cause-of-an-unusual-electrical-storm
#11
Tatiana Guimarães, Miguel Nobre Menezes, Diogo Cruz, Sónia do Vale, Armando Bordalo, Arminda Veiga, Fausto J Pinto, Dulce Brito
Hypercalcemia is a known cause of heart rhythm disorders, however its association with ventricular arrhythmias is rare. The authors present a case of a fifty-three years old male patient with a ischemic and ethanolic dilated cardiomyopathy, and severely reduced ejection fraction, carrier of cardiac resynchronization therapy (CRT) with cardioverter defibrillator (ICD), admitted in the emergency department with an electrical storm, with multiple appropriated ICD shocks, refractory to antiarrhythmic therapy. In the etiological investigation was documented severe hypercalcemia secondary to primary hyperparathyroidism undiagnosed until then...
December 5, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/29221138/gas-signaling-molecule-hydrogen-sulfide-attenuates-doxorubicin-induced-dilated-cardiomyopathy
#12
Zongliang Yu, Wei Zhang, Mengyao Zhang, Mengchao Jin, Weiting Xu, Xiang Zhou
Increasing evidence has revealed that hydrogen sulfide (H2S) has beneficial effects in the treatment of various cardiovascular diseases. However, whether H2S can attenuate the development of dilated cardiomyopathy (DCM) remains unclear. In this study, we generated a rat model of DCM induced by doxorubicin and investigated the protective effects of H2S against DCM. Cardiac structure and function were analyzed by two-dimensional echocardiography. Oxidative stress was evaluated by measuring malondialdehyde, superoxide dismutase, glutathione peroxidase and reactive oxygen species...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29218065/acute-myocardial-injury-in-a-child-with-duchenne-muscular-dystrophy-pulse-steroid-therapy
#13
Eliza Cinteza, Claudiu Stoicescu, Niculina Butoianu, Mihaela Balgradean, Alin Nicolescu, Matthias Angrés
Heart implication in Duchenne muscular dystrophy usually is present in the form of dilated cardiomyopathy, manifested as heart failure and arrhythmias. To delay progression, including heart deterioration, prednisone is recommended as preventive treatment. We report the case of an 11-year-old boy diagnosed with Duchenne muscular dystrophy at the age of seven, who was on preventive treatment with oral prednisone (0.75 mg/kg/day) and beta blocker (metoprolol, 1 mg/kg/day). Suddenly, the patient presented acute chest pain, vomiting and sweating...
September 2017: Mædica
https://www.readbyqxmd.com/read/29217929/maternal-vitamin-d-deficiency-a-culprit-for-hypocalcaemia-induced-myocardial-failure-in-a-four-month-old-infant-a-case-report-from-tikur-anbessa-specialized-hospital-ethiopia
#14
Tamirat Moges, Yemisirach Shiferaw, Tigist Heye
Background: A rare but reversible cause of dilated cardiomyopathy occurs in infants born to vitamin D deficient mothers due to hypocalcaemia. Case Report: We report a case of dilated cardiomyopathy due to hypocalcaemia secondary to maternal vitamin D deficiency in an infant presented with seizure disorder and heart failure. This was a four-month old female infant with respiratory distress and acute heart failure. The cause of her cardiac failure was dilated cardiomyopathy...
May 2017: Ethiopian Journal of Health Sciences
https://www.readbyqxmd.com/read/29217642/nicotinamide-riboside-preserves-cardiac-function-in-a-mouse-model-of-dilated-cardiomyopathy
#15
Nicolas Diguet, Samuel A J Trammell, Cynthia Tannous, Robin Deloux, Jérôme Piquereau, Nathalie Mougenot, Anne Gouge, Mélanie Gressette, Boris Manoury, Jocelyne Blanc, Marie Breton, Jean-François Decaux, Gareth Lavery, István Baczkó, Joffrey Zoll, Anne Garnier, Zhenlin Li, Charles Brenner, Mathias Mericskay
Background -Myocardial metabolic impairment is a major feature in chronic heart failure (HF). As the major coenzyme in fuel oxidation and oxidative phosphorylation and a substrate for enzymes signaling energy stress and oxidative stress response, NAD+ is emerging as a metabolic target in a number of diseases including HF. Little is known on mechanisms regulating homeostasis of NAD+ in the failing heart. Methods -To explore possible alterations of NAD+ homeostasis in the failing heart, we quantified expression of NAD+ biosynthetic enzymes in human failing heart and in the heart of a mouse model of dilated cardiomyopathy (DCM) triggered by SRF transcription factor depletion in the heart (SRFHKO) or of cardiac hypertrophy triggered by transverse aorta constriction (TAC)...
December 7, 2017: Circulation
https://www.readbyqxmd.com/read/29217479/distinct-lipidomic-profiles-in-models-of-physiological-and-pathological-cardiac-remodeling-and-potential-therapeutic-strategies
#16
Yow Keat Tham, Kevin Huynh, Natalie A Mellett, Darren C Henstridge, Helen Kiriazis, Jenny Y Y Ooi, Aya Matsumoto, Natalie L Patterson, Junichi Sadoshima, Peter J Meikle, Julie R McMullen
Cardiac myocyte membranes contain lipids which remodel dramatically in response to heart growth and remodeling. Lipid species have both structural and functional roles. Physiological and pathological cardiac remodeling have very distinct phenotypes, and the identification of molecular differences represent avenues for therapeutic interventions. Whether the abundance of specific lipid classes is different in physiological and pathological models was largely unknown. The aim of this study was to determine whether distinct lipids are regulated in settings of physiological and pathological remodeling, and if so, whether modulation of differentially-regulated lipids could modulate heart size and function...
December 4, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29209317/%C3%AE-1-adrenergic-receptor-contains-multiple-iak-and-iek-binding-epitopes-that-induce-t-cell-responses-with-varying-degrees-of-autoimmune-myocarditis-in-a-j-mice
#17
Rakesh H Basavalingappa, Chandirasegaran Massilamany, Bharathi Krishnan, Arunakumar Gangaplara, Rajkumar A Rajasekaran, Muhammad Z Afzal, Jean-Jack Riethoven, Jennifer L Strande, David Steffen, Jay Reddy
Myocarditis/dilated cardiomyopathy (DCM) patients can develop autoantibodies to various cardiac antigens and one major antigen is β1-adrenergic receptor (β1AR). Previous reports indicate that animals immunized with a β1AR fragment encompassing, 197-222 amino acids for a prolonged period can develop DCM by producing autoantibodies, but existence of T cell epitopes, if any, were unknown. Using A/J mice that are highly susceptible to lymphocytic myocarditis, we have identified β1AR 171-190, β1AR 181-200, and β1AR 211-230 as the major T cell epitopes that bind major histocompatibility complex class II/IAk or IEk alleles, and by creating IAk and IEk dextramers, we demonstrate that the CD4 T cell responses to be antigen-specific...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29208631/the-drosophila-junctophilin-gene-is-functionally-equivalent-to-its-four-mammalian-counterparts-and-is-a-modifier-of-a-huntingtin-poly-q-expansion-and-the-notch-pathway
#18
Eduardo Calpena, Víctor López Del Amo, Mouli Chakraborty, Beatriz Llamusí, Rubén Artero, Carmen Espinós, Máximo I Galindo
Members of the Junctophilin (JPH) protein family have emerged as key actors in all excitable cells with critical implications for human pathophysiology. In mammals this family consists in four members (JPH1-4) that are differentially expressed throughout excitable cells. The analysis of knockout mice lacking JPH subtypes has demonstrated their essential contribution to physiological functions in skeletal and cardiac muscles, and neurons. Moreover, mutations in the human JPH2 gene are associated with hypertrophic and dilated cardiomyopathies; mutations in JPH3 are responsible for the neurodegenerative Huntington's disease-like-2 (HDL2), whereas JPH1 acts as a genetic modifier in CMT2K peripheral neuropathy...
November 20, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29208596/urinary-8-hydroxy-2-deoxyguanosine-as-a-myocardial-oxidative-stress-marker-is-associated-with-ventricular-tachycardia-in-patients-with-active-cardiac-sarcoidosis
#19
Hironori Ishiguchi, Shigeki Kobayashi, Takeki Myoren, Michiaki Kohno, Takuma Nanno, Wakako Murakami, Seiko Oda, Keishi Oishi, Shinichi Okuda, Munemasa Okada, Kazuyoshi Suga, Masafumi Yano
BACKGROUND: Recently, we reported that urinary 8-hydroxy-2'-deoxyguanosine (U-8-OHdG), an oxidative stress marker, reflected inflammatory activity in cardiac sarcoidosis (CS). Here, we investigated whether U-8-OHdG levels were associated with ventricular tachycardia (VT) in patients with CS. METHODS AND RESULTS: This prospective cohort study enrolled 62 consecutive patients with CS, of whom 36 were diagnosed as having active CS based on abnormal 18F-flurodeoxyglucose accumulation in the heart on positron-emission tomography/computed tomography...
December 2017: Circulation. Cardiovascular Imaging
https://www.readbyqxmd.com/read/29207943/auxiliary-diagnostic-potential-of-ventricle-geometry-and-late-gadolinium-enhancement-in-left-ventricular-non-compaction-non-randomized-case-control-study
#20
Marko Boban, Vladimir Pesa, Ivo Darko Gabric, Sime Manola, Viktor Persic, Helena Antic-Kauzlaric, Marinko Zulj, Aleksandar Vcev
BACKGROUND: There are still ambiguities existing in regard to left ventricular non-compaction (LVNC) diagnostic imaging. The aim of our study was to analyze diagnostic potential of late gadolinium enhancement (LGE) and ventricle geometry in patients with LVNC and controls. METHODS: Data on cardiac magnetic resonance imaging (CMR) studies for LVNC were reassessed from the hospital's database (3.75 years; n=1975 exams). Matching sample of controls included cases with no structural heart disease, hypertrophic or dilative cardiomyopathy, arrhythmogenic right ventricular dysplasia or subacute myocarditis...
December 6, 2017: BMC Cardiovascular Disorders
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