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https://www.readbyqxmd.com/read/28822653/titin-truncating-variants-increase-the-risk-of-cardiovascular-death-in-patients-with-hypertrophic-cardiomyopathy
#1
Ce Zhang, Hongju Zhang, Guixin Wu, Xiaoliang Luo, Channa Zhang, Yubao Zou, Hu Wang, Rutai Hui, Jizheng Wang, Lei Song
BACKGROUND: Titin-truncating variants (TTNtv) have been detected in a variety of cardiomyopathies and represent the most common cause of dilated cardiomyopathy. However, their significance in hypertrophic cardiomyopathy (HCM) is still unclear. METHODS: The titin gene (TTN) was sequenced for truncating variants in a cohort of 529 Chinese patients with HCM and 307 healthy controls. Baseline and follow-up clinical data (for 4.7 ± 3.2 years) from these patients were obtained...
June 8, 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28822614/heterogeneity-in-a-large-pedigree-with-danon-disease-implications-for-pathogenesis-and-management
#2
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/28818204/geometry-as-a-confounder-when-assessing-ventricular-systolic-function-comparison-between-ejection-fraction-and-strain
#3
Thomas M Stokke, Nina E Hasselberg, Marit K Smedsrud, Sebastian I Sarvari, Kristina H Haugaa, Otto A Smiseth, Thor Edvardsen, Espen W Remme
BACKGROUND: Preserved left ventricular (LV) ejection fraction (EF) and reduced myocardial strain are reported in patients with hypertrophic cardiomyopathy, ischemic heart disease, diabetes mellitus, and more. OBJECTIVES: The authors performed a combined mathematical and echocardiographic study to understand the inconsistencies between EF and strains. METHODS: An analytical equation showing the relationship between EF and the 4 parameters, global longitudinal strain (GLS), global circumferential strain (GCS), wall thickness, and short-axis diameter, was derived from an elliptical LV model...
August 22, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28815794/finding-the-candidate-sequence-variants-for-diagnosis-of-hypertrophic-cardiomyopathy-in-east-slovak-patients
#4
Michaela Zigova, Jarmila Bernasovska, Iveta Boronova, Marta Mydlarova Blascakova, Jan Kmec
BACKGROUND: Hypertrophic cardiomyopathy is a heterogeneous myocardial disease. Mutations appearing in several genes might be a potential cause of the disease. The aim of the study was to analyze selected exons of the sarcomeric and non-sarcomeric genes, with the purpose to identify potential candidate genetic variants and to understand etiopathogenetic mechanisms of hypertrophic cardiomyopathy in East Slovak patients. METHODS: This study recruited 23 unrelated patients with hypertrophic cardiomyopathy, namely, 13 men and 10 women (mean age of 58...
August 16, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28812126/myocardial-iodine-concentration-measurement-using-dual-energy-computed-tomography-for-the-diagnosis-of-cardiac-amyloidosis-a-pilot-study
#5
Virgile Chevance, Thibaud Damy, Vania Tacher, François Legou, Fourat Ridouani, Alain Luciani, Hicham Kobeiter, Alain Rahmouni, Jean-François Deux
OBJECTIVE: To measure myocardium iodine concentration (MIC) in patients with cardiac amyloidosis (CA) using dual-energy computed tomography (DECT). METHODS: Twenty-two patients with CA, 13 with non-amyloid hypertrophic cardiomyopathies (CH) and 10 control patients were explored with pre-contrast, arterial and 5-minute DECT acquisition (Iomeprol; 1.5 mL/kg). Inter-ventricular septum (IVS) thickness, blood pool iodine concentration (BPIC), MIC (mg/mL), iodine ratio and extra-cellular volume (ECV) were calculated...
August 10, 2017: European Radiology
https://www.readbyqxmd.com/read/28811092/direct-oral-anticoagulants-in-patients-with-hypertrophic-cardiomyopathy-and-atrial-fibrillation
#6
Fernando Dominguez, Vicente Climent, Esther Zorio, Tomás Ripoll-Vera, Joel Salazar-Mendiguchía, Jose Manuel García-Pinilla, Jose Angel Urbano-Moral, Xusto Fernández-Fernández, David Lopez-Cuenca, Raquel Ajo-Ferrer, Jorge Sanz-Sanchez, Yolanda Gomez-Perez, Miguel A López-Garrido, Roberto Barriales-Villa, Juan Ramón Gimeno, Pablo Garcia-Pavia
BACKGROUND: Chronic anticoagulation with vitamin K antagonists (VKAs) is recommended in patients with hypertrophic cardiomyopathy (HCM) and atrial fibrillation (AF). Direct oral anticoagulants (NOACs) are an alternative to VKAs but there are limited data to support their use in HCM. We sought to describe the pattern of use, thromboembolic events, bleeding and quality of life in patients with HCM and AF treated with NOACs. METHODS: Data from patients treated with NOACs (n=99) and VKA (n=433) at 9 inherited cardiac diseases units were retrospectively collected...
August 7, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28808947/the-sydney-heart-bank-improving-translational-research-while-eliminating-or-reducing-the-use-of-animal-models-of-human-heart-disease
#7
REVIEW
C G Dos Remedios, S P Lal, A Li, J McNamara, A Keogh, P S Macdonald, R Cooke, E Ehler, R Knöll, S B Marston, J Stelzer, H Granzier, C Bezzina, S van Dijk, F De Man, G J M Stienen, J Odeberg, F Pontén, W Linke, J van der Velden
The Sydney Heart Bank (SHB) is one of the largest human heart tissue banks in existence. Its mission is to provide high-quality human heart tissue for research into the molecular basis of human heart failure by working collaboratively with experts in this field. We argue that, by comparing tissues from failing human hearts with age-matched non-failing healthy donor hearts, the results will be more relevant than research using animal models, particularly if their physiology is very different from humans. Tissue from heart surgery must generally be used soon after collection or it significantly deteriorates...
August 14, 2017: Biophysical Reviews
https://www.readbyqxmd.com/read/28808052/a-small-molecule-modulator-of-cardiac-myosin-acts-on-multiple-stages-of-the-myosin-chemomechanical-cycle
#8
Raja F Kawas, Robert L Anderson, Sadie R Bartholomew Ingle, Yonghong Song, Arvinder S Sran, Hector M Rodriguez
MYK-461 is a recently discovered novel small-molecule modulator of cardiac myosin that targets the underlying sarcomere hypercontractility of hypertrophic cardiomyopathy (HCM), one of the most prevalent heritable cardiovascular disorders. Studies on isolated cells and muscle fibers, as well as intact animals, have shown that MYK-461 inhibits sarcomere force production, thereby reducing cardiac function. Initial mechanistic studies have suggested that MYK-461 primarily reduces the steady-state ATPase activity by inhibiting the rate of phosphate release of β-cardiac myosin-S1, but the molecular mechanism of action of MYK-461 has not been described...
August 14, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28803523/left-ventricular-noncompaction-or-hypertrophic-cardiomyopathy-both
#9
Bruno Brochado, Sofia Cabral, António Pinheiro-Vieira, Henrique Carvalho, Severo Torres
No abstract text is available yet for this article.
August 14, 2017: Acta Cardiologica
https://www.readbyqxmd.com/read/28803513/mechanisms-of-unexpected-death-and-autopsy-findings-in-friedreich-ataxia
#10
Roger W Byard, John D Gilbert
A 36-year-old woman with a clinical history of Friedreich ataxia and hypertrophic cardiomyopathy was found unexpectedly dead at her home. The heart showed asymmetric left ventricular hypertrophy, with an interventricular septal thickness of 20-25 mm (the remainder of the left ventricular wall measured 15 mm). Histologically, both ventricles had irregular areas of marked myocyte hypertrophy with associated interstitial fibrosis and focal myofibre disarray. There was neuronal loss within the dentate nucleus of the cerebellum, with vacuolation and axonal loss in the dorsal columns and spinocerebellar tracts of the upper cervical spinal cord...
January 1, 2017: Medicine, Science, and the Law
https://www.readbyqxmd.com/read/28802532/challenges-and-controversies-in-hypertrophic-cardiomyopathy-clinical-genomic-and-basic-science-perspectives
#11
Ares Pasipoularides
No abstract text is available yet for this article.
August 9, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28802509/value-of-strain-imaging-and-maximal-oxygen-consumption-in-patients-with-hypertrophic-cardiomyopathy
#12
Kegan J Moneghetti, Davide Stolfo, Jeffrey W Christle, Yukari Kobayashi, Gherardo Finocchiaro, Gianfranco Sinagra, Jonathan Myers, Euan A Ashley, Francois Haddad, Matthew T Wheeler
Longitudinal strain (LS) has been shown to be predictive of outcome in hypertrophic cardiomyopathy (HC). Percent predicted peak oxygen uptake (ppVO2), among other cardiopulmonary exercise testing (CPX) metrics, is a strong predictor of prognosis in HC. However, there has been limited investigation into the combination of LS and CPX metrics. This study sought to determine how LS and parameters of exercise performance contribute to prognosis in HC. One hundred and thirty-one consecutive patients with HC who underwent CPX and stress echocardiography were included...
July 17, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28798793/the-diagnostic-role-of-cardiac-magnetic-resonance-used-first-and-last-time-in-life-in-a-patient-with-a-suspected-dilated-phase-of-hypertrophic-cardiomyopathy
#13
Rafał Hładij, Renata Rajtar-Salwa, Artur Dziewierz, Paweł Petkow-Dimitrow
No abstract text is available yet for this article.
2017: Postępy W Kardiologii Interwencyjnej, Advances in Interventional Cardiology
https://www.readbyqxmd.com/read/28798024/fabry-disease-in-families-with-hypertrophic-cardiomyopathy-clinical-manifestations-in-the-classic-and-later-onset-phenotypes
#14
Berglind Adalsteinsdottir, Runolfur Palsson, Robert J Desnick, Marianna Gardarsdottir, Polakit Teekakirikul, Martin Maron, Evan Appelbaum, Ulf Neisius, Barry J Maron, Michael A Burke, Brenden Chen, Silvere Pagant, Christoffer V Madsen, Ragnar Danielsen, Reynir Arngrimsson, Ulla Feldt-Rasmussen, Jonathan G Seidman, Christine E Seidman, Gunnar Th Gunnarsson
BACKGROUND: The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA(α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B). METHODS AND RESULTS: Familial screening of at-risk relatives identified mutations in 16 family A members (8 men and 8 heterozygotes) and 25 family B members (10 men and 15 heterozygotes)...
August 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28797094/whole-gene-sequencing-identifies-deep-intronic-variants-with-potential-functional-impact-in-patients-with-hypertrophic-cardiomyopathy
#15
Rita Mendes de Almeida, Joana Tavares, Sandra Martins, Teresa Carvalho, Francisco J Enguita, Dulce Brito, Maria Carmo-Fonseca, Luís Rocha Lopes
BACKGROUND: High throughput sequencing technologies have revolutionized the identification of mutations responsible for genetic diseases such as hypertrophic cardiomyopathy (HCM). However, approximately 50% of individuals with a clinical diagnosis of HCM have no causal mutation identified. This may be due to the presence of pathogenic mutations located deep within the introns, which are not detected by conventional sequencing analysis restricted to exons and exon-intron boundaries. OBJECTIVE: The aim of this study was to develop a whole-gene sequencing strategy to prioritize deep intronic variants that may play a role in HCM pathogenesis...
2017: PloS One
https://www.readbyqxmd.com/read/28794137/discrepant-measurements-of-maximal-left-ventricular-wall-thickness-between-cardiac-magnetic-resonance-imaging-and-echocardiography-in-patients-with-hypertrophic-cardiomyopathy
#16
Waseem Hindieh, Adaya Weissler-Snir, Helene Hammer, Arnon Adler, Harry Rakowski, Raymond H Chan
BACKGROUND: We sought to compare maximal left ventricular (LV) wall thickness (WT) measurements as obtained by routine clinical practice between echocardiography and cardiac magnetic resonance (CMR) and document causes of discrepancy. METHODS AND RESULTS: One-hundred and ninety-five patients with hypertrophic cardiomyopathy (median age, 52.8±15.1 years) who underwent echocardiography and CMR imaging within 6 months (median, 41 days; interquartile range, 16-97 days) were included...
August 2017: Circulation. Cardiovascular Imaging
https://www.readbyqxmd.com/read/28794111/clinical-characteristics-and-long-term-outcome-of-hypertrophic-cardiomyopathy-in-individuals-with-a-mybpc3-myosin-binding-protein-c-founder-mutation
#17
Hannah G van Velzen, Arend F L Schinkel, Rogier A Oldenburg, Marjon A van Slegtenhorst, Ingrid M E Frohn-Mulder, Jolanda van der Velden, Michelle Michels
BACKGROUND: MYBPC3 (Myosin-binding protein C) founder mutations account for 35% of hypertrophic cardiomyopathy (HCM) cases in the Netherlands. We compared clinical characteristics and outcome of MYBPC3 founder mutation (FG+) HCM with nonfounder genotype-positive (G+) and genotype-negative (G-) HCM. METHODS AND RESULTS: The study included 680 subjects: 271 FG+ carriers, 132 G+ probands with HCM, and 277 G- probands with HCM. FG+ carriers included 134 FG+ probands with HCM, 54 FG+ relatives diagnosed with HCM after family screening, 74 FG+/phenotype-negative relatives, and 9 with noncompaction or dilated cardiomyopathy...
August 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28793143/intraoperative-diagnosis-of-anderson-fabry-disease-in-patients-with-obstructive-hypertrophic-cardiomyopathy-undergoing-surgical-myectomy
#18
Franco Cecchi, Maria Iascone, Niccolò Maurizi, Laura Pezzoli, Irene Binaco, Elena Biagini, Maria Laura Fibbi, Iacopo Olivotto, Federico Pieruzzi, Ana Fruntelata, Lucian Dorobantu, Claudio Rapezzi, Paolo Ferrazzi
Importance: Diagnostic screening for Anderson-Fabry cardiomyopathy (AFC) is performed in the presence of specific clinical red flags in patients with hypertrophic cardiomyopathy (HCM) older than 25 years. However, left ventricular outflow tract obstruction (LVOTO) has been traditionally considered an exclusion criteria for AFC. Objective: To examine a series of patients diagnosed with HCM and severe basal LVOTO undergoing myectomy in whom the diagnosis of AFC was suspected by the cardiac surgeon intraoperatively and confirmed by histological and genetic examinations...
August 9, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28790153/multiple-gene-variants-in-hypertrophic-cardiomyopathy-in-the-era-of-next-generation-sequencing
#19
Charlotte Burns, Richard D Bagnall, Lien Lam, Christopher Semsarian, Jodie Ingles
BACKGROUND: Multiple likely pathogenic/pathogenic (LP/P; ≥2) variants in patients with hypertrophic cardiomyopathy were described 10 years ago with a prevalence of 5%. We sought to re-examine the significance of multiple rare variants in patients with hypertrophic cardiomyopathy in the setting of comprehensive and targeted panels. METHODS AND RESULTS: Of 758 hypertrophic cardiomyopathy probands, we included 382 with ≥45 cardiomyopathy genes screened. There were 224 (59%) with ≥1 rare variant (allele frequency ≤0...
August 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28783133/effects-of-co-culture-media-on-hepatic-differentiation-of-hipsc-with-or-without-huvec-co-culture
#20
Nora Freyer, Selina Greuel, Fanny Knöspel, Nadja Strahl, Leila Amini, Frank Jacobs, Mario Monshouwer, Katrin Zeilinger
The derivation of hepatocytes from human induced pluripotent stem cells (hiPSC) is of great interest for applications in pharmacological research. However, full maturation of hiPSC-derived hepatocytes has not yet been achieved in vitro. To improve hepatic differentiation, co-cultivation of hiPSC with human umbilical vein endothelial cells (HUVEC) during hepatic differentiation was investigated in this study. In the first step, different culture media variations based on hepatocyte culture medium (HCM) were tested in HUVEC mono-cultures to establish a suitable culture medium for co-culture experiments...
August 7, 2017: International Journal of Molecular Sciences
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