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Structural heart disease

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https://www.readbyqxmd.com/read/28822614/heterogeneity-in-a-large-pedigree-with-danon-disease-implications-for-pathogenesis-and-management
#1
Jonathan C P Roos, Matthew J Daniels, Elizabeth Morris, Hanna I Hyry, Timothy M Cox
BACKGROUND: Danon disease is an X-linked disturbance of autophagy manifesting with cognitive impairment and disordered heart and skeletal muscle. After a period of relative stability, patients deteriorate rapidly and may quickly become ineligible for elective heart transplantation - the only life-saving therapy. METHODS: We report a large pedigree with diverse manifestations of Danon disease in hemizygotes and female heterozygotes. RESULTS: Malignant cardiac arrhythmias requiring amiodarone treatment induced thyroid disease in two patients; intractable thyrotoxicosis, which enhances autophagy, caused the death of a 21year-old man...
June 21, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28821499/primary-ventricular-tachycardia-in-paediatric-population-in-a-tertiary-centre
#2
Shuenn-Nan Chiu, Wei-Lun Wu, Chun-Wei Lu, Wei-Chieh Tseng, Kun-Lang Wu, Jou-Kou Wang, Mei-Hwan Wu
OBJECTIVE: To delineate the outcome of ventricular tachycardia (VT) in the paediatric population. METHODS: Patients who developed sustained VT between the ages of 0 and 18 years in a referral centre from 1991 to 2015 were enrolled. RESULTS: A total of 116 patients (67 male/49 female) had documented VT, and 53 (46%) had associated heart disease, namely cardiomyopathy in 20 (17%), structural heart disease in 19 (16%) and channelopathy in 14 (12%), and some of them presented with two types of associated heart disease...
August 18, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28818533/the-association-between-bouted-and-non-bouted-physical-activity-on-retinopathy-prevalence
#3
Emily Frith, Paul D Loprinzi
OBJECTIVE: We evaluated the specific differential association between non-bouted, lifestyle physical activities (vs. structured exercise; i.e., bouted physical activity) on retinopathy prevalence among a national sample of the broader U.S. adult population. METHODS: Data from the 2005-2006 National Health and Nutrition Examination Survey (NHANES) was used to identify 1501 adults, between 40 and 85years. Bouted and non-bouted physical activities were assessed using objective accelerometer monitoring...
August 14, 2017: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/28818088/assessment-of-the-effect-of-left-atrial-cryoablation-enhanced-by-ganglionated-plexi-ablation-in-the-treatment-of-atrial-fibrillation-in-patients-undergoing-open-heart-surgery
#4
Jiří Bárta, Radim Brát
BACKGROUND: The aim of our study was to investigate, whether enhancement of left atrial cryoablation by ablation of the autonomic nervous system of left atrium leads to influencing the outcomes of surgical treatment of atrial fibrillation in patients with structural heart disease undergoing open-heart surgery. METHODS: The observed patient file consisted of 100 patients, who have undergone a combined open-heart surgery at our department between July 2012 and December 2014...
August 17, 2017: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/28808939/comparison-of-left-ventricular-shape-by-gated-spect-imaging-in-diabetic-and-nondiabetic-patients-with-normal-myocardial-perfusion-a-propensity-score-analysis
#5
Carmela Nappi, Valeria Gaudieri, Wanda Acampa, Roberta Assante, Emilia Zampella, Ciro Gabriele Mainolfi, Mario Petretta, Guido Germano, Alberto Cuocolo
BACKGROUND: Diabetes mellitus induces structural and functional cardiac alterations that can result in heart failure. Left ventricular (LV) shape is a dynamic component of cardiac geometry influencing its contractile function. However, few data are available comparing LV shape index in diabetic and nondiabetic patients without overt coronary artery disease after balancing for coronary risk factors. METHODS: We studied 1168 patients with normal myocardial perfusion and normal LV ejection fraction on stress gated single-photon emission computed tomography (SPECT) imaging...
August 14, 2017: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/28808498/functional-cellular-and-molecular-remodeling-of-the-heart-under-influence-of-oxidative-cigarette-tobacco-smoke
#6
REVIEW
Abdullah Kaplan, Emna Abidi, Rana Ghali, George W Booz, Firas Kobeissy, Fouad A Zouein
Passive and active chronic cigarette smoking (CS) remains an international epidemic and a key risk factor for cardiovascular disease (CVD) development. CS-induced cardiac damage is divided into two major and interchangeable mechanisms: (1) direct adverse effects on the myocardium causing smoking cardiomyopathy and (2) indirect effects on the myocardium by fueling comorbidities such as atherosclerotic syndromes and hypertension that eventually damage and remodel the heart. To date, our understanding of cardiac remodeling following acute and chronic smoking exposure is not well elucidated...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28807706/the-relationship-between-psychological-symptoms-and-ventricular-assist-device-implantation
#7
Himali Weerahandi, Nathan Goldstein, Laura P Gelfman, Ulrich Jorde, James N Kirkpatrick, Edith Meyerson, Judith Marble, Yoshifumi Naka, Sean Pinney, Mark S Slaughter, Emilia Bagiella, Deborah D Ascheim
CONTEXT: Ventricular assist devices (VADs) improve quality of life in advanced heart failure (HF) patients, but there are little data exploring psychological symptoms in this population. OBJECTIVE: This study examined the prevalence of psychiatric symptoms and disease over time in VAD patients. METHODS: This prospective multicenter cohort study enrolled patients immediately before or after VAD implant and followed them up to forty-eight weeks...
August 11, 2017: Journal of Pain and Symptom Management
https://www.readbyqxmd.com/read/28807008/phenotypic-and-molecular-characterisation-of-cdk13-related-congenital-heart-defects-dysmorphic-facial-features-and-intellectual-developmental-disorders
#8
Bret L Bostwick, Scott McLean, Jennifer E Posey, Haley E Streff, Karen W Gripp, Alyssa Blesson, Nina Powell-Hamilton, Jessica Tusi, David A Stevenson, Ellyn Farrelly, Louanne Hudgins, Yaping Yang, Fan Xia, Xia Wang, Pengfei Liu, Magdalena Walkiewicz, Marianne McGuire, Dorothy K Grange, Marisa V Andrews, Marybeth Hummel, Suneeta Madan-Khetarpal, Elena Infante, Zeynep Coban-Akdemir, Karol Miszalski-Jamka, John L Jefferies, Jill A Rosenfeld, Lisa Emrick, Kimberly M Nugent, James R Lupski, John W Belmont, Brendan Lee, Seema R Lalani
BACKGROUND: De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. We aimed to further define the phenotypic and molecular spectrum of this newly described disorder. METHODS: To minimise ascertainment bias, we recruited nine additional individuals with CDK13 pathogenic variants from clinical and research exome laboratory sequencing cohorts...
August 14, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28806738/partial-igf-1-deficiency-is-sufficient-to-reduce-heart-contractibility-angiotensin-ii-sensibility-and-alter-gene-expression-of-structural-and-functional-cardiac-proteins
#9
José Luis González-Guerra, Inma Castilla-Cortazar, Gabriel A Aguirre, Úrsula Muñoz, Irene Martín-Estal, Elena Ávila-Gallego, Miriam Granado, Juan E Puche, Ángel Luis García-Villalón
Circulating levels of IGF-1 may decrease under several circumstances like ageing, metabolic syndrome, and advanced cirrhosis. This reduction is associated with insulin resistance, dyslipidemia, progression to type 2 diabetes, and increased risk for cardiovascular diseases. However, underlying mechanisms between IGF-1 deficiency and cardiovascular disease remain elusive. The specific aim of the present work was to study whether the partial IGF-1 deficiency influences heart and/or coronary circulation, comparing vasoactive factors before and after of ischemia-reperfusion (I/R)...
2017: PloS One
https://www.readbyqxmd.com/read/28805065/neurohormonal-modulation-for-treatment-of-cardiac-involvement-in-dystrophinopathies-and-mitochondrial-disease
#10
Alberto Aimo, Alberto Giannoni, Vincenzo Castiglione, Michelangelo Mancuso, Gabriele Siciliano, Massimo F Piepoli, Claudio Passino, Michele Emdin
Mutations in either the nuclear or the mitochondrial genome can lead to structural and functional changes within the skeletal muscles. These genetic skeletal myopathies are rare, although not infrequent when their cumulative incidence is considered. Dystrophinopathies (Duchenne and Becker muscular dystrophies) and mitochondrial disease are some of the most frequent clinical entities, and those developing heart failure more frequently. Neurohormonal antagonism represents the cornerstone of heart failure management, even though its role in the prevention and treatment of heart failure in patients with dystrophinopathies or mitochondrial disorders remains undefined...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28803675/the-yale-fitness-intervention-trial-in-female-cancer-survivors-cardiovascular-and-physiological-outcomes
#11
M Tish Knobf, Sangchoon Jeon, Barbara Smith, Lyndsay Harris, Siobhan Thompson, Mitchel R Stacy, Karl Insogna, Albert J Sinusas
BACKGROUND: Induced premature menopause and cardio-toxic therapy increase cardiovascular disease risk in female cancer survivors. OBJECTIVE: To compare the effects of a 12 month aerobic-resistance fitness center intervention to home based physical activity on cardiovascular function and metabolic risk factors. METHODS: Subjects (N = 154) who had completed primary and/or adjuvant chemotherapy (past 3 years) were randomized to a fitness center intervention or a home based group...
August 10, 2017: Heart & Lung: the Journal of Critical Care
https://www.readbyqxmd.com/read/28802249/high-resolution-mapping-of-chromatin-conformation-in-cardiac-myocytes-reveals-structural-remodeling-of-the-epigenome-in-heart-failure
#12
Manuel Rosa-Garrido, Douglas J Chapski, Anthony D Schmitt, Todd H Kimball, Elaheh Karbassi, Emma Monte, Enrique Balderas, Matteo Pellegrini, Tsai-Ting Shih, Elizabeth Soehalim, David A Liem, Peipei Ping, Niels J Galjart, Shuxun Ren, Yibin Wang, Bing Ren, Thomas M Vondriska
Background -Cardiovascular disease is associated with epigenomic changes in the heart, however the endogenous structure of cardiac myocyte chromatin has never been determined. Methods -To investigate the mechanisms of epigenomic function in the heart, genome-wide chromatin conformation capture (Hi-C) and DNA sequencing were performed in adult cardiac myocytes following development of pressure overload-induced hypertrophy. Mice with cardiac-specific deletion of CTCF (a ubiquitous chromatin structural protein) were generated to explore the role of this protein in chromatin structure and cardiac phenotype...
August 11, 2017: Circulation
https://www.readbyqxmd.com/read/28801791/effectiveness-of-healthcare-coordination-in-patients-with-chronic-respiratory-diseases
#13
Donata Kurpas, Katarzyna Szwamel, Dorota Lenarcik, Marika Guzek, Artur Prusaczyk, Paweł Żuk, Jolanta Michalowska, Agnieszka Grzeda, Bożena Mroczek
Coordination of healthcare effectively prevents exacerbations and reduces the number of hospitalizations, emergency visits, and the mortality rate in patients with chronic respiratory diseases. The purpose of this study was to determine clinical effectiveness of ambulatory healthcare coordination in chronic respiratory patients and its effect on the level of healthcare services as an indicator of direct medical costs. We conducted a retrospective health record survey, using an online database of 550 patients with chronic respiratory diseases...
August 12, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28801407/the-boundaries-of-mild-chronic-obstructive-pulmonary-disease-copd-design-of-the-searching-clinical-copd-onset-soon-study
#14
Gonzalo Labarca, Andrea Bustamante, Gonzalo Valdivia, Rodrigo Díaz, Álvaro Huete, Paul Mac Nab, Laura Mendoza, Jaime Leppe, Carmen Lisboa, Fernando Saldías, Orlando Díaz
INTRODUCTION: Clinical onset of chronic obstructive pulmonary disease (COPD) is the point at which the disease is first identifiable by physicians. It is a poorly defined stage which seems to include both mild spirometric and non-spirometric disease, and could be described as early grade COPD, for practical purposes. While dyspnoea; chronic bronchitis and CT imaging evidence of emphysema and airway disease may be present very early, the lone significance of dyspnoea, the most relevant symptom in COPD in identifying these individuals, has been scarcely assessed...
August 11, 2017: BMJ Open
https://www.readbyqxmd.com/read/28798384/dynamics-of-spatiotemporal-line-defects-and-chaos-control-in-complex-excitable-systems
#15
Marcel Hörning, François Blanchard, Akihiro Isomura, Kenichi Yoshikawa
Spatiotemporal pattern formation governs dynamics and functions in various biological systems. In the heart, excitable waves can form complex oscillatory and chaotic patterns even at an abnormally higher frequency than normal heart beats, which increase the risk of fatal heart conditions by inhibiting normal blood circulation. Previous studies suggested that line defects (nodal lines) play a critical role in stabilizing those undesirable patterns. However, it remains unknown if the line defects are static or dynamically changing structures in heart tissue...
August 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28797760/effect-of-left-ventricular-dysfunction-on-utilization-of-donor-hearts
#16
David Tryon, Nahidh W Hasaniya, Brice Jabo, Anees J Razzouk, Leonard L Bailey, David G Rabkin
BACKGROUND: In this study we investigated modern, non-utilization rates of potential cardiac donors with left ventricular dysfunction (LVD) to clarify this phenomenon's magnitude and the impact of recent studies suggesting these organs can be safely transplanted. METHODS: Using the United Network for Organ Sharing transplant database, we reviewed all donors evaluated between January 1, 2007 and June 30, 2014. Exclusion criteria included lack of consent and age <13 or >59 years...
July 19, 2017: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/28794054/cardiovascular-event-prediction-by-machine-learning-the-multi-ethnic-study-of-atherosclerosis
#17
Bharath Ambale-Venkatesh, Xiaoying Yang, Colin O Wu, Kiang Liu, W G Hundley, Robyn L McClelland, Antoinette S Gomes, Aaron R Folsom, Steven Shea, Eliseo Guallar, David A Bluemke, João A Lima
Rationale: Machine learning may be useful to characterize cardiovascular risk, predict outcomes and identify biomarkers in population studies. Objective: To test the ability of random survival forests (RF), a machine learning technique, to predict six cardiovascular outcomes in comparison to standard cardiovascular risk scores. Methods and Results: We included participants from the Multi-Ethnic Study of Atherosclerosis (MESA). Baseline measurements were used to predict cardiovascular outcomes over 12 years of follow-up...
August 9, 2017: Circulation Research
https://www.readbyqxmd.com/read/28791714/cardiac-progenitor-cells-old-is-not-always-gold
#18
Venkata Naga Srikanth Garikipati, Raj Kishore
Aging causes progressive structural and functional deteriorations of the heart and is a predisposing risk factor for cardiovascular disease (CVD) the major cause of morbidity and mortality in Western countries. This article is protected by copyright. All rights reserved.
August 9, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28790229/autoimmune-disease-with-cardiac-valves-involvement-libman-sacks-endocarditis
#19
Eka Ginanjar, Yulianto Yulianto
This case study aim to evaluate the response of steroid treatment for autoimmune endocarditis. Valvular heart disease is relatively rising in both congenital and acquired cases, but the autoimmune endocarditis remains rare. In this case, a 34 year old woman with clinical manifestation resembling systemic lupus erythematosus (SLE) is diagnosed with Libman-sacks Endocarditis. After six months of steroid treatment, her clinical manifestations and heart structure improved.
April 2017: Acta Medica Indonesiana
https://www.readbyqxmd.com/read/28790152/lamin-a-c-related-cardiac-disease-late-onset-with-a-variable-and-mild-phenotype-in-a-large-cohort-of-patients-with-the-lamin-a-c-p-arg331gln-founder-mutation
#20
Edgar T Hoorntje, Ilse A Bollen, Daniela Q Barge-Schaapveld, Florence H van Tienen, Gerard J Te Meerman, Joeri A Jansweijer, Anthonie J van Essen, Paul G Volders, Alina A Constantinescu, Peter C van den Akker, Karin Y van Spaendonck-Zwarts, Rogier A Oldenburg, Carlo L Marcelis, Jasper J van der Smagt, Eric A Hennekam, Aryan Vink, Marianne Bootsma, Emmelien Aten, Arthur A Wilde, Arthur van den Wijngaard, Jos L Broers, Jan D Jongbloed, Jolanda van der Velden, Maarten P van den Berg, J Peter van Tintelen
BACKGROUND: Interpretation of missense variants can be especially difficult when the variant is also found in control populations. This is what we encountered for the LMNA c.992G>A (p.(Arg331Gln)) variant. Therefore, to evaluate the effect of this variant, we combined an evaluation of clinical data with functional experiments and morphological studies. METHODS AND RESULTS: Clinical data of 23 probands and 35 family members carrying this variant were retrospectively collected...
August 2017: Circulation. Cardiovascular Genetics
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