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https://www.readbyqxmd.com/read/28654758/looking-into-a-whale-s-heart-investigating-a-genetic-basis-for-cardiomyopathy-in-a-non-model-species
#1
Amelia Viricel, Patricia E Rosel
Understanding the pathogenesis of complex diseases can benefit from multi-species comparative studies. Yet these studies rarely include natural populations of non-model species. Here, we focused on the cause of a heart muscle disease, cardiomyopathy (CM), affecting multiple mammalian species including humans, cats, dogs, and certain species of whales. Mutations in genes coding for sarcomeric proteins have been identified as a leading cause for CM in humans, and some were also revealed to be responsible for CM in cats...
June 27, 2017: Genome Génome / Conseil National de Recherches Canada
https://www.readbyqxmd.com/read/28654509/pi3ks-in-diabetic-cardiomyopathy
#2
Mingchuan Li, Alessandra Murabito, Alessandra Ghigo, Emilio Hirsch
Diabetic cardiomyopathy is a heart disease in diabetic patients, identified as ventricular dysfunction in the absence of coronary artery disease and hypertension. The molecular mechanisms underlying diabetic cardiomyopathy are still poorly understood. The protein and lipid kinase phosphoinositide 3-kinases (PI3Ks) have been suggested to regulate cardiac injury during diabetes. In this review, we will summarize the role of different PI3K isoforms and of their downstream signaling in the pathogenesis of diabetic cardiomyopathy, including the regulation of cardiac metabolism, contractility, hypertrophy, myocardial cell death and inflammation...
June 22, 2017: Journal of Cardiovascular Pharmacology
https://www.readbyqxmd.com/read/28653469/development-of-quality-metrics-for-ambulatory-pediatric-cardiology-chest-pain
#3
Jimmy C Lu, Manish Bansal, Sarina K Behera, Jeffrey R Boris, Brian Cardis, John S Hokanson, Bahram Kakavand, Roy Jedeikin
OBJECTIVE: As part of the American College of Cardiology Adult Congenital and Pediatric Cardiology Section effort to develop quality metrics (QMs) for ambulatory pediatric practice, the chest pain subcommittee aimed to develop QMs for evaluation of chest pain. DESIGN: A group of 8 pediatric cardiologists formulated candidate QMs in the areas of history, physical examination, and testing. Consensus candidate QMs were submitted to an expert panel for scoring by the RAND-UCLA modified Delphi process...
June 27, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28653365/heart-transplantation-for-anthracycline-cardiomyopathy-pump-up-the-volume
#4
EDITORIAL
Rustin Meister, Howard M Katzenstein
No abstract text is available yet for this article.
June 26, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28653358/peripartum-cardiomyopathy-for-the-clinician-the-known-and-the-unknown
#5
EDITORIAL
Uri Elkayam
No abstract text is available yet for this article.
June 26, 2017: European Journal of Heart Failure
https://www.readbyqxmd.com/read/28653114/precision-medicine-approach-to-genetic-cardiomyopathy
#6
K Filonenko, H A Katus, B Meder
Precision medicine aims to achieve improved survival by strategies that recognize the genetic and phenotypic individuality of patients and stratify treatment accordingly. Genetic cardiomyopathies represent an ideal disease group to fully embark on this concept: they are in total frequent diseases with a marked morbidity and mortality and there is ample knowledge about their predisposing genetic factors and associated functional mechanisms. The current review highlights the genetic etiology and gives examples of the diverse treatment strategies that are envisaged in the future...
June 26, 2017: Herz
https://www.readbyqxmd.com/read/28652030/cardiac-sarcoidosis-left-ventricular-impairment-and-chronic-right-ventricular-pacing-pacing-or-pathology
#7
REVIEW
Homa Forotan, Matthew K Rowe, Dariusz Korczyk, Gerald Kaye
BACKGROUND: Cardiac sarcoidosis (CS) is an uncommon and under-recognized disease which most frequently presents with atrioventricular (AV) block and may also present with ventricular arrhythmias and left ventricular (LV) systolic dysfunction. Because of its protean clinical manifestations, confirming a diagnosis of CS is often challenging. METHODS: We report two cases where patients presented with atrioventricular (AV) block without evidence of underlying myocardial disease, underwent chronic dual-chamber pacing, and presented several years later with severe LV systolic dysfunction...
May 26, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28651946/layered-smooth-muscle-cell-endothelial-progenitor-cell-sheets-derived-from-the-bone-marrow-augment-postinfarction-ventricular-function
#8
Yasuhiro Shudo, Andrew B Goldstone, Jeffrey E Cohen, Jay B Patel, Michael S Hopkins, Amanda N Steele, Bryan B Edwards, Masashi Kawamura, Shigeru Miyagawa, Yoshiki Sawa, Y Joseph Woo
OBJECTIVE: The angiogenic potential of endothelial progenitor cells (EPCs) may be limited by the absence of their natural biologic foundation, namely smooth muscle pericytes. We hypothesized that joint delivery of EPCs and smooth muscle cells (SMCs) in a novel, totally bone marrow-derived cell sheet will mimic the native architecture of a mature blood vessel and act as an angiogenic construct to limit post infarction ventricular remodeling. METHODS: Primary EPCs and mesenchymal stem cells were isolated from bone marrow of Wistar rats...
May 24, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28651660/sudden-improvement-in-ventricular-repolarization-abnormality-after-a-short-detraining-period-in-an-athlete
#9
Noriko Motoki, Yohei Akazawa, Akira Hachiya, Yuji Inaba
We describe the case of a 17-year-old male soccer player with T-wave inversion in precordial leads in resting electrocardiography, which also disclosed sinus bradycardia, early repolarization, and increased QRS voltage. These findings strongly suggested cardiomyopathy. The patient's T-wave inversion disappeared during only 2 weeks of detraining, and it re-appeared 2 weeks after resumption of intensive training. This sudden change in electrocardiographic parameters over a short period helped in identifying the adolescent as having athlete's heart...
June 27, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28650931/hypertrophic-restrictive-cardiomyopathy-with-apical-thinning-a-peculiar-case-of-genotype-phenotype-correlation
#10
Pierluigi Lesizza, Marco Merlo, Giancarlo Vitrella, Gianfranco Sinagra
: Hypertrophic cardiomyopathy (HCM) is the most common cardiomyopathy, mainly caused by mutations in genes encoding for sarcomere proteins. Even though many mutations have been recognized to be causative of HCM, specific HCM phenotypes can be rarely predicted by the genotype, possibly as a consequence of the presence of still unknown disease-modifying genes [Maron et al. (2013). Lancet 381:242-55]. In this very peculiar case of HCM hypertrophy localized to left ventricle, mid-wall segments coexisted with a restrictive filling pattern and an apical wall thinning mimicking hypoplasia of left ventricle apex...
June 24, 2017: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/28649556/successful-pregnancy-and-delivery-in-a-woman-with-propionic-acidemia-from-the-amish-community
#11
Jessica Scott Schwoerer, Sandra van Calcar, Gregory M Rice, James Deline
Propionic acidemia (PA) is an inborn error of protein metabolism with a variable clinical presentation ranging from neonatal encephalopathy to seemingly asymptomatic individuals who present with cardiomyopathy or sudden death. PA is recognized in the Amish population, often with an early asymptomatic course and eventual cardiac complications. Thus, Amish women with PA may reach reproductive age without clinical sequelae, but are at increased risk for metabolic decompensation during pregnancy, delivery and postpartum period...
September 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28649555/autosomal-dominant-carvajal-plus-syndrome-due-to-the-novel-desmoplakin-mutation-c-1678a%C3%A2-%C3%A2-t-p-ile560phe
#12
Josef Finsterer, Claudia Stöllberger, Eva Wollmann, Susanne Dertinger, Franco Laccone
BACKGROUND: Carvajal syndrome is an autosomal dominant or autosomal recessive disorder, manifesting with dilated cardiomyopathy, woolly hair, and palmoplantar keratoma. Additional manifestations can be occasionally found. Carvajal syndrome may be due to mutations in the desmocollin-2, desmoplakin, or plakophilin-2 gene. METHODS AND RESULTS: We report a family with Carvajal syndrome which additionally presented with hypoacusis, noncompaction, recurrent pharyngeal infections, oligodontia, and recurrent diarrhoea...
September 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28648664/high-dose-ivig-successfully-reduces-high-rhgaa-igg-antibody-titers-in-a-crim-negative-infantile-pompe-disease-patient
#13
Mugdha Rairikar, Zoheb B Kazi, Ankit Desai, Crista Walters, Amy Rosenberg, Priya S Kishnani
Alglucosidase alfa (rhGAA) has altered the course of an otherwise fatal outcome in classic infantile Pompe disease (IPD), which presents with cardiomyopathy and severe musculoskeletal involvement. However, the response to therapy is determined by several factors including the development of high and sustained antibody titers (HSAT) to rhGAA. Cross-reactive immunologic material (CRIM) negative patients are at the highest risk for development of HSAT. Immune tolerance induction (ITI) with methotrexate, rituximab, and intravenous immunoglobulin (IVIG) has been largely successful in preventing the immune response and in achieving tolerance when done in conjunction with enzyme replacement therapy (ERT) initiation...
May 18, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28648627/myofilament-protein-dynamics-modulate-ead-formation-in-human-hypertrophic-cardiomyopathy
#14
REVIEW
Melanie A Zile, Natalia A Trayanova
Patients with hypertrophic cardiomyopathy (HCM), a disease associated with sarcomeric protein mutations, often suffer from sudden cardiac death (SCD) resulting from arrhythmia. In order to advance SCD prevention strategies, our understanding of how sarcomeric mutations in HCM patients contribute to enhanced arrhythmogenesis needs to be improved. Early afterdepolarizations (EADs) are an important mechanism underlying arrhythmias associated with HCM-SCD. Although the ionic mechanisms underlying EADs have been studied in general, whether myofilament protein dynamics mechanisms also underlie EADs remains unknown...
June 22, 2017: Progress in Biophysics and Molecular Biology
https://www.readbyqxmd.com/read/28648424/late-onset-dynamic-outflow-tract-gradient-in-the-setting-of-tako-tsubo-cardiomyopathy-an-interesting-phenomenon-with-potential-implications
#15
Kenan Yalta, Ertan Yetkin
In clinical practice, dynamic left ventricular outflow tract obstruction (LVOTO) in the setting of tako-tsubo cardiomyopathy (TTC) has been regarded as an early-onset complication typically emerging in accordance with wall motion abnormalities. However, dynamic LVOTO has, very rarely, been reported as a late-onset phenomenon in the setting of TTC as well (arising in the late stage or after recovery). Accordingly, the present paper aims to highlight clinical relevance and potential implications of late-onset LVOTO in the setting of TTC...
May 2017: Indian Heart Journal
https://www.readbyqxmd.com/read/28647828/3d-printing-of-severe-hypertrophic-cardiomyopathy-in-a-child-with-rasopathy
#16
N F Johnston, T Prendiville, C J McMahon
We describe the use of 3D printing in conjunction with echocardiography in assessing hypertrophic cardiomyopathy in a boy with Rasopathy. 3D printing may supplement conventional imaging including echocardiography and MRI in the evaluation of hypertrophic cardiomyopathy.
June 25, 2017: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/28647415/restrictive-arteriopathy-in-late-onset-pompe-disease-case-report-and-review-of-the-literature
#17
Konark Malhotra, David C Carrington, David S Liebeskind
Late-onset Pompe disease (LOPD) is an adult type of classical Pompe disease and presents without cardiomyopathy. Neuroimaging in LOPD is typically limited to posterior circulation and involves dilative arteriopathy, especially dolichoectasia and intracranial aneurysms. We report an interesting case of an established diagnosis of asymptomatic LOPD in a young man with a restrictive-variant pattern in posterior vasculature. We discuss the clinical presentation, neuroimaging, existing literature, and prognosis in vascular variants of LOPD...
June 21, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28647373/salusin-%C3%AE-mediates-high-glucose-induced-endothelial-injury-via-disruption-of-ampk-signaling-pathway
#18
Xuexue Zhu, Yuetao Zhou, Weiwei Cai, Haijian Sun, Liying Qiu
The dysregulated proliferation, migration, apoptosis and angiogenesis of endothelial cells are involved in diabetic endothelial dysfunction. The circulating salusin-β levels were increased in diabetic patients, and salusin-β contributes to diabetic cardiomyopathy in rats. However, the roles of salusin-β in diabetes mellitus-induced endothelial dysfunction are not fully understood. Herein, we demonstrated the increased expressions of salusin-β in human umbilical vein endothelial cells (HUVECs) cultured in HG medium...
June 21, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28647343/alcoholic-cardiomyopathy-what-is-known-and-what-is-not-known
#19
REVIEW
Antonio Mirijello, Claudia Tarli, Gabriele Angelo Vassallo, Luisa Sestito, Mariangela Antonelli, Cristina d'Angelo, Anna Ferrulli, Salvatore De Cosmo, Antonio Gasbarrini, Giovanni Addolorato
Excessive alcohol consumption represents one of the main causes of non-ischemic dilated cardiomyopathy. Alcoholic cardiomyopathy is characterized by dilation and impaired contraction of one or both myocardial ventricles. It represents the final effect of alcohol-induced toxicity to the heart. Several pathophysiological mechanisms have been proposed at the basis of alcohol-induced damage, most of which are still object of research. Unfortunately, symptoms of alcoholic cardiomyopathy are not specific and common to other forms of heart failure and appear when dilatation and systolic dysfunction are consolidated...
June 21, 2017: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/28647113/feline-congestive-heart-failure-current-diagnosis-and-management
#20
REVIEW
Etienne Côté
Congestive heart failure (CHF) is a well-known disorder in feline practice, having been recognized as the most common clinical syndrome in cats with hypertrophic cardiomyopathy, for example. This article identifies the reasons that an accurate diagnosis of CHF is important and the means by which to obtain one; pharmacologic and nonpharmacologic methods for controlling signs of CHF; and recommendations for follow-up evaluations, monitoring, and troubleshooting.
June 21, 2017: Veterinary Clinics of North America. Small Animal Practice
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