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Genetic cardiomyopathy

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https://www.readbyqxmd.com/read/29675777/inhibition-of-p16-ink4a-to-rejuvenate-aging-human-cardiac-progenitor-cells-via-the-upregulation-of-anti-oxidant-and-nf%C3%AE%C2%BAb-signal-pathways
#1
Roshni V Khatiwala, Shuning Zhang, Xiuchun Li, Neil Devejian, Edward Bennett, Chuanxi Cai
Autologous human cardiac stem/progenitor cell (hCPC) therapy is a promising treatment that has come into use in recent years for patients with cardiomyopathy. Though innovative in theory, a major hindrance to the practical application of this treatment is that the hCPCs of elderly patients, who are most susceptible to myocardial disease, are senescent and prone to cell death. Rejuvenating hCPCs from elderly patients may help overcome this obstacle, and can be accomplished by reversing entry into the cellular stage of senescence...
April 19, 2018: Stem Cell Reviews
https://www.readbyqxmd.com/read/29671882/electrocardiography-scar-quantification-correlates-with-scar-size-of-hypertrophic-cardiomyopathy-seen-by-multidetector-computed-tomography
#2
Tiago Costa Bignoto, Dalmo Antônio Ribeiro Moreira, Ricardo Garbe Habib, Edileide de Barros Correia, Ricardo Carneiro Amarante, Tannas Jatene, Mario Barbosa Guedes Nunes, Tiago Senra, Luiz Eduardo Mastrocolla
BACKGROUND: Hypertrophic cardiomyopathy (HCM), a genetically transmitted disease, is the most common genetic cardiovascular disease. Current strategies to stratify risk are expensive and concentrated in wealthy centers. Twelve-lead electrocardiography (ECG) is inexpensive and universally available and can be readily used for Selvester QRS scoring, which estimates scar size. This study aimed to establish the relation between ECG scar quantification and myocardial fibrosis (extent of myocardial delayed enhancement) in multidetector computed tomography (MDCT)...
April 19, 2018: Clinical Cardiology
https://www.readbyqxmd.com/read/29668927/elevated-dual-specificity-protein-phosphatase-4-in-cardiomyopathy-caused-by-lamin-a-c-gene-mutation-is-primarily-erk1-2-dependent-and-its-depletion-improves-cardiac-function-and-survival
#3
Jason C Choi, Wei Wu, Elizabeth Phillips, Robin Plevin, Fusako Sera, Shunichi Homma, Howard J Worman
Mutations in the lamin A/C gene (LMNA) encoding the nuclear intermediate filament proteins lamins A and C cause a group of tissue-selective diseases, the most common of which is dilated cardiomyopathy (herein referred to as LMNA cardiomyopathy) with variable skeletal muscle involvement. We previously showed that cardiomyocyte-specific overexpression of dual specificity protein phosphatase 4 (DUSP4) is involved in the pathogenesis of LMNA cardiomyopathy. However, how mutations in LMNA activate Dusp4 expression and whether it is necessary for the development of LMNA cardiomyopathy are currently unknown...
April 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29666464/an-adolescence-onset-male-leukoencephalopathy-with-remarkable-cerebellar-atrophy-and-novel-compound-heterozygous-aars2-gene-mutations-a-case-report
#4
Qing Dong, Ling Long, Yan-Yu Chang, Yan-Jun Lin, Mei Liu, Zheng-Qi Lu
Mutations in the mitochondrial alanyl-transfer (t)RNA synthetase 2 (AARS2; OMIM 612035) have been linked to leukoencephalopathy recently. Until now, there have been only 13 cases reported in the literature. Hence, the clinical and genetic characteristics of this disease are not fully understood. Here, we reported an adolescence-onset male leukoencephalopathy patient characterized by progressive limb tremor at the age of 17 years. He had no signs of a cardiomyopathy. Magnetic resonance imaging scanning demonstrated severe cerebellar atrophy and white matter abnormalities involving descending tracts...
April 17, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29665072/an-update-on-canine-cardiomyopathies-is-it-all-in-the-genes
#5
REVIEW
E Dutton, J López-Alvarez
Dilated cardiomyopathy is the second most common cardiac disease in dogs and causes considerable morbidity and mortality. Primary dilated cardiomyopathy is suspected to be familial, and genetic loci have been associated with the disease in a number of breeds. Because it is an adult-onset disease, usually with late onset, testing breeding dogs and bitches before breeding for a genetic mutation that could lead to dilated cardiomyopathy would be helpful to prevent disease. There is growing evidence that the genetic basis may be multigenic rather than monogenic in the majority of studied breeds...
April 17, 2018: Journal of Small Animal Practice
https://www.readbyqxmd.com/read/29663861/amyloid-cardiomyopathy-a-hidden-heart-failure-cause-that-is-often-misdiagnosed
#6
Yale Tung-Chen, Miguel-Ángel Arnau
BACKGROUND: Congestive heart failure (CHF) is a very common condition, especially in the elderly, characterized by dyspnea, orthopnea, nocturnal paroxysmal dyspnea, and peripheral edema. CLINICAL PRESENTATION AND INTERVENTION: We report the case of a 76-year-old with CHF symptoms for the last 3 months. The ECG and transthoracic echocardiogram were suggestive of CHF due to amyloid cardiomyopathy. After cardiac MRI, a positive Congo red staining of subcutaneous fat aspiration and a negative genetic testing for mutant transthyretin, senile amyloid cardiomyopathy (ATTRw) was expected...
April 17, 2018: Acta Clinica Belgica
https://www.readbyqxmd.com/read/29663722/homozygous-missense-mybpc3-pro873his-mutation-associated-with-increased-risk-for-heart-failure-development-in-hypertrophic-cardiomyopathy
#7
Antheia Kissopoulou, Cecilia Trinks, Anna Green, Jan-Erik Karlsson, Jon Jonasson, Cecilia Gunnarsson
Hypertrophic cardiomyopathy (HCM) is a primary autosomal-dominant disorder of the myocardium with variable expressivity and penetrance. Occasionally, homozygous sarcomere genetic variants emerge while genotyping HCM patients. In these cases, a more severe HCM phenotype is generally seen. Here, we report a case of HCM that was diagnosed clinically at 39 years of age. Initial symptoms were shortness of breath during exertion. Successively, he developed a wide array of severe clinical manifestations, which progressed to an ominous end-stage heart failure that resulted in heart transplantation...
April 16, 2018: ESC Heart Failure
https://www.readbyqxmd.com/read/29661763/outcomes-of-contemporary-family-screening-in-hypertrophic-cardiomyopathy
#8
Hannah G van Velzen, Arend F L Schinkel, Sara J Baart, Rogier A Oldenburg, Ingrid M E Frohn-Mulder, Marjon A van Slegtenhorst, Michelle Michels
BACKGROUND: Contemporary hypertrophic cardiomyopathy (HCM) family screening includes clinical evaluation and genetic testing (GT). This screening strategy requires the identification of a pathogenic mutation in the proband. Our aim was to examine the results of this HCM screening strategy. METHODS: Between 1985 and 2016, 777 relatives of 209 probands were assessed in the context of HCM screening. Genotype-positive (G+) relatives and relatives without genetic testing (GT) underwent repeated clinical evaluations...
April 2018: Circulation. Genomic and precision medicine
https://www.readbyqxmd.com/read/29660923/haemochromatosis-pathophysiology-and-the-red-blood-cell1
#9
Kieran J Richardson, Antony P McNamee, Michael J Simmonds
Haemochromatosis remains the most prevalent genetic disorder of Caucasian populations in Australia and the United States, occurring in ∼1 of 200 individuals and having a carrier frequency of 10-14%. Hereditary haemochromatosis is an autosomal recessive condition, that is phenotypically characterised by a gradual accumulation of iron, above and beyond that required for biological function. Once the binding capacity of iron carriers reaches saturation, the highly reactive free iron generates radicals that may lead to widespread cellular dysfunction...
April 7, 2018: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/29655825/hypertrophic-cardiomyopathy-clinical-update
#10
REVIEW
Jeffrey B Geske, Steve R Ommen, Bernard J Gersh
Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy, manifesting as left ventricular hypertrophy in the absence of a secondary cause. The genetic underpinnings of HCM arise largely from mutations of sarcomeric proteins; however, the specific underlying mutation often remains undetermined. Patient presentation is phenotypically diverse, ranging from asymptomatic to heart failure or sudden cardiac death. Left ventricular hypertrophy and abnormal ventricular configuration result in dynamic left ventricular outflow obstruction in most patients...
April 5, 2018: JACC. Heart Failure
https://www.readbyqxmd.com/read/29652902/relations-between-right-ventricular-morphology-and-clinical-electrical-and-genetic-parameters-in-brugada-syndrome
#11
Belinda Gray, Ganesh Kumar Gnanappa, Richard D Bagnall, Giuseppe Femia, Laura Yeates, Jodie Ingles, Charlotte Burns, Rajesh Puranik, Stuart M Grieve, Christopher Semsarian, Raymond W Sy
BACKGROUND: Increasing evidence suggests the presence of structural changes affecting the right ventricular outflow tract (RVOT) in patients with Brugada Syndrome (BrS). The aim of this study was to characterise the RV morphology in BrS and explore associations between morphologic, clinical, electrical, and genetic parameters using non-invasive multimodality testing. METHODS: Consecutive BrS patients (recruited 2013-2015) underwent clinical assessment, dedicated RV imaging using cardiac magnetic resonance (CMR) imaging (unless contra-indicated), electrical assessment (electrocardiogram, Holter monitoring, signal-averaged ECG[SAECG]) and genotyping...
2018: PloS One
https://www.readbyqxmd.com/read/29651156/efficient-differentiation-of-cardiomyocytes-and-generation-of-calcium-sensor-reporter-lines-from-nonhuman-primate-ipscs
#12
Yongshun Lin, Huimin Liu, Michael Klein, John Ostrominski, So Gun Hong, Ravi Chandra Yada, Guibin Chen, Keron Navarengom, Robin Schwartzbeck, Hong San, Zu-Xi Yu, Chengyu Liu, Kaari Linask, Jeanette Beers, Lugui Qiu, Cynthia E Dunbar, Manfred Boehm, Jizhong Zou
Nonhuman primate (NHP) models are more predictive than rodent models for developing induced pluripotent stem cell (iPSC)-based cell therapy, but robust and reproducible NHP iPSC-cardiomyocyte differentiation protocols are lacking for cardiomyopathies research. We developed a method to differentiate integration-free rhesus macaque iPSCs (RhiPSCs) into cardiomyocytes with >85% purity in 10 days, using fully chemically defined conditions. To enable visualization of intracellular calcium flux in beating cardiomyocytes, we used CRISPR/Cas9 to stably knock-in genetically encoded calcium indicators at the rhesus AAVS1 safe harbor locus...
April 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29628595/anesthesia-in-a-child-with-newly-diagnosed-hypertrophic-cardiomyopathy-for-placement-of-implantable-cardioverter-defibrillator
#13
Rajnish Kumar, Bibha Kumari
Hypertrophic cardiomyopathy (HCM) is a genetic myocardial disease usually characterized by asymmetric ventricular septal hypertrophy. HCM is an important cause of sudden cardiac death in adolescents and young adults. We are presenting a case report, ten years boy came in emergency with sudden loss of consciousness (witness cardiac arrest). Child was revived after cardiopulmonary resuscitation and send to coronary care unit. Echocardiography findings were suggestive of HCM. There was history of sudden death of her mother and maternal uncle...
January 2018: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/29627768/mitochondrial-ca-2-influx-contributes-to-arrhythmic-risk-in-nonischemic-cardiomyopathy
#14
An Xie, Zhen Song, Hong Liu, Anyu Zhou, Guangbin Shi, Qiongying Wang, Lianzhi Gu, Man Liu, Lai-Hua Xie, Zhilin Qu, Samuel C Dudley
BACKGROUND: Heart failure (HF) is associated with increased arrhythmia risk and triggered activity. Abnormal Ca2+ handling is thought to underlie triggered activity, and mitochondria participate in Ca2+ homeostasis. METHODS AND RESULTS: A model of nonischemic HF was induced in C57BL/6 mice by hypertension. Computer simulations were performed using a mouse ventricular myocyte model of HF. Isoproterenol-induced premature ventricular contractions and ventricular fibrillation were more prevalent in nonischemic HF mice than sham controls...
April 7, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29622585/prevalence-and-progression-of-late-gadolinium-enhancement-in-children-and-adolescents-with-hypertrophic-cardiomyopathy
#15
Anna Axelsson Raja, Hoshang Farhad, Anne Marie Valente, John-Paul Couce, John Lynn Jefferies, Henning Bundgaard, Kenneth Zahka, Harry Lever, Anne M Murphy, Euan Ashley, Sharlene M Day, Mark V Sherrid, Ling Shi, David A Bluemke, Charles E Canter, Steven D Colan, Carolyn Y Ho
Background -Late gadolinium enhancement (LGE) on cardiac magnetic resonance imaging (CMR) is believed to represent dense replacement fibrosis. It is seen in ~60% of adult patients with hypertrophic cardiomyopathy (HCM). However, the prevalence of LGE in children and adolescents with HCM is not well established. Additionally, longitudinal studies describing the development and evolution of LGE in pediatric HCM are lacking. This study assesses the prevalence, progression, and clinical correlations of LGE in children and adolescents with, or genetically predisposed to, HCM...
April 5, 2018: Circulation
https://www.readbyqxmd.com/read/29615637/%C3%AE-2a-adrenergic-blockade-attenuates-septic-cardiomyopathy-by-increasing-cardiac-norepinephrine-concentration-and-inhibiting-cardiac-endothelial-activation
#16
Xiaohui Yu, Yuan Wang, Duomeng Yang, Xiangxu Tang, Hongmei Li, Xiuxiu Lv, Renbin Qi, Chaofeng Hu, Daxiang Lu, Ben Lv, Huadong Wang
Cardiomyopathy is a common complication associated with increased mortality in sepsis, but lacks specific therapy. Here, using genetic and pharmacological approaches, we explored the therapeutic effect of α2A -adrenergic receptor (AR) blockade on septic cardiomyopathy. CLP-induced septic rats were treated with BRL44408 (α2A -AR antagonist), prazosin (α1 -AR antagonist) and/or reserpine. CLP-induced cardiomyopathy, indicated by reduced dP/dt and increased cardiac troponin I phosphorylation, was attenuated by BRL44408, this was associated with reduced cardiac TNF-α and endothelial VCAM-1 expression, cardiomyocyte apoptosis and related signal molecule phosphorylation...
April 3, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29615062/kars-related-diseases-progressive-leukoencephalopathy-with-brainstem-and-spinal-cord-calcifications-as-new-phenotype-and-a-review-of-literature
#17
Anna Ardissone, Davide Tonduti, Andrea Legati, Eleonora Lamantea, Rita Barone, Imen Dorboz, Odile Boespflug-Tanguy, Gabriella Nebbia, Marco Maggioni, Barbara Garavaglia, Isabella Moroni, Laura Farina, Anna Pichiecchio, Simona Orcesi, Luisa Chiapparini, Daniele Ghezzi
BACKGROUND: KARS encodes lysyl- transfer ribonucleic acid (tRNA) synthetase, which catalyzes the aminoacylation of tRNA-Lys in the cytoplasm and mitochondria. Eleven families/sporadic patients and 16 different mutations in KARS have been reported to date. The associated clinical phenotype is heterogeneous ranging from early onset encephalopathy to isolated peripheral neuropathy or nonsyndromic hearing impairment. Recently additional presentations including leukoencephalopathy as predominant cerebral involvement or cardiomyopathy, isolated or associated with muscular and cerebral involvement, have been reported...
April 4, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29614691/novel-speg-mutations-in-congenital-myopathy-without-centralized-nuclei
#18
Xavière Lornage, Pascal Sabouraud, Béatrice Lannes, Dominique Gaillard, Raphaël Schneider, Jean-François Deleuze, Anne Boland, Julie Thompson, Johann Böhm, Valérie Biancalana, Jocelyn Laporte
Congenital myopathies are clinically and genetically heterogeneous, and are classified based on typical structural abnormalities on muscle sections. Recessive mutations in the striated muscle preferentially expressed protein kinase (SPEG) were recently reported in patients with centronuclear myopathy (CNM) associated in most cases with dilated cardiomyopathy. Here we report the identification of novel biallelic truncating SPEG mutations in a patient with moderate congenital myopathy without clinical and histological hallmarks of CNM and without cardiomyopathy...
March 26, 2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29606362/usefulness-of-genetic-study-by-next-generation-sequencing-in-high-risk-arrhythmogenic-cardiomyopathy
#19
Amalio Ruiz Salas, José Peña Hernández, Carmen Medina Palomo, Alberto Barrera Cordero, Fernando Cabrera Bueno, José Manuel García Pinilla, Ana Guijarro, Luis Morcillo-Hidalgo, Manuel Jiménez Navarro, Juan José Gómez Doblas, Eduardo de Teresa, Javier Alzueta
INTRODUCTION AND OBJECTIVES: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by progressive fibrofatty replacement of predominantly right ventricular myocardium. This cardiomyopathy is a frequent cause of sudden cardiac death in young people and athletes. The aim of our study was to determine the incidence of pathological or likely pathological desmosomal mutations in patients with high-risk definite ARVC. METHODS: This was an observational, retrospective cohort study, which included 36 patients diagnosed with high-risk ARVC in our hospital between January 1998 and January 2015...
March 29, 2018: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29601906/melatonin-therapy-for-diabetic-cardiomyopathy-a-mechanism-involving-syk-mitochondrial-complex-i-serca-pathway
#20
Hao Zhou, Yan Yue, Jin Wang, Qiang Ma, Yundai Chen
Melatonin and its metabolites have been demonstrated to modulate the glucose, dyslipidemia and other metabolic disorders. This study aimed to explore a novel mechanism responsible for diabetic cardiomyopathy development, and also validated whether melatonin played a protective role in repairing damaged heart in the diabetes setting. Our data demonstrated that spleen tyrosine kinase (Syk) was activated by chronic high-glucose stimulus and contributed to the development of diabetic cardiomyopathy. However, genetic ablation of Syk or supplementation of melatonin to inhibit Syk activation improved diabetic myocardial function, reduced cardiac fibrosis and preserved cardiomyocytes viability...
March 28, 2018: Cellular Signalling
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