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Hypertrophy cardiomyopathy

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https://www.readbyqxmd.com/read/28921420/causes-of-an-increased-pressure-gradient-through-the-left-ventricular-outflow-tract-a-west-coast-experience
#1
Sayuki Kobayashi, Yoshihiko Sakai, Isao Taguchi, Hiroto Utsunomiya, Takahiro Shiota
BACKGROUND: Left ventricular outflow tract obstruction (LVOTO) occurs from not only obstructive hypertrophic cardiomyopathy but also other conditions such as sigmoid septum or post mitral valve repair. However, the changes of the LVOT pressure gradient (LVOT PG) in LVOTO with various conditions remain unclear. METHODS: The clinical characteristics and echocardiographic parameters of 73 patients with LVOT PG ≥50 mmHg at rest on Doppler ultrasound were retrospectively investigated...
September 18, 2017: Journal of Echocardiography
https://www.readbyqxmd.com/read/28917552/crispr-correction-of-the-prkag2-gene-mutation-in-the-patient-s-ipsc-derived-cardiomyocytes-eliminates-the-electrophysiological-and-structural-abnormalities
#2
Ronen Ben Jehuda, Binyamin Eisen, Yuval Shemer, Lucy N Mekies, Agnes Szantai, Irina Reiter, Huanhuan Cui, Kaomei Guan, Shiraz Haron-Khun, Dov Freimark, Silke R Sperling, Mihaela Gherghiceanu, Michael Arad, Ofer Binah
BACKGROUND: Mutations in the PRKAG2 gene encoding the γ-subunit of adenosine monophosphate-kinase (AMPK) cause hypertrophic cardiomyopathy (HCM) and familial-Wolff-Parkinson-White syndrome (WPW). Patients carrying the R302Q mutation in PRKAG2 present sinus bradycardia, escape rhythms, ventricular pre-excitation, supraventricular tachycardia and atrioventricular block. This mutation affects AMPK activity and increases glycogen storage in cardiomyocytes. The link between glycogen storage, WPW, HCM and arrhythmias remains unknown...
September 13, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28915329/mitophagy-as-a-protective-mechanism-against-myocardial-stress
#3
Jihoon Nah, Shigeki Miyamoto, Junichi Sadoshima
Mitochondria are dynamic organelles that can undergo fusion, fission, biogenesis, and autophagic elimination to maintain mitochondrial quality control. Since the heart is in constant need of high amounts of energy, mitochondria, as a central energy supply source, play a crucial role in maintaining optimal cardiac performance. Therefore, it is reasonable to assume that mitochondrial dysfunction is associated with the pathophysiology of heart diseases. In non-dividing, post-mitotic cells such as cardiomyocytes, elimination of dysfunctional organelles is essential to maintaining cellular function because non-dividing cells cannot dilute dysfunctional organelles through cell division...
September 12, 2017: Comprehensive Physiology
https://www.readbyqxmd.com/read/28914755/thioredoxin-2-offers-protection-against-mitochondrial-oxidative-stress-in-h9c2-cells-and-against-myocardial-hypertrophy-induced-by-hyperglycemia
#4
Hong Li, Changqing Xu, Quanfeng Li, Xiuxiang Gao, Erkio Sugano, Hiroshi Tomita, Liming Yang, Sa Shi
Mitochondrial oxidative stress is thought to be a key contributor towards the development of diabetic cardiomyopathy. Thioredoxin 2 (Trx2) is a mitochondrial antioxidant that, along with Trx reductase 2 (TrxR2) and peroxiredoxin 3 (Prx3), scavenges H₂O₂ and offers protection against oxidative stress. Our previous study showed that TrxR inhibitors resulted in Trx2 oxidation and increased ROS emission from mitochondria. In the present study, we observed that TrxR inhibition also impaired the contractile function of isolated heart...
September 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28912182/hypertrophic-obstructive-cardiomyopathy-surgical-myectomy-and-septal-ablation
#5
REVIEW
Rick A Nishimura, Hubert Seggewiss, Hartzell V Schaff
Hypertrophic cardiomyopathy is a genetic disorder characterized by marked hypertrophy of the myocardium. It is frequently accompanied by dynamic left ventricular outflow tract obstruction and symptoms of dyspnea, angina, and syncope. The initial therapy for symptomatic patients with obstruction is medical therapy with β-blockers and calcium antagonists. However, there remain a subset of patients who have continued severe symptoms, which are unresponsive to medical therapy. These patients can be treated with septal reduction therapy, either surgical septal myectomy or alcohol septal ablation...
September 15, 2017: Circulation Research
https://www.readbyqxmd.com/read/28912181/hypertrophic-cardiomyopathy-genetics-pathogenesis-clinical-manifestations-diagnosis-and-therapy
#6
REVIEW
Ali J Marian, Eugene Braunwald
Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is characterized by left ventricular hypertrophy unexplained by secondary causes and a nondilated left ventricle with preserved or increased ejection fraction. It is commonly asymmetrical with the most severe hypertrophy involving the basal interventricular septum. Left ventricular outflow tract obstruction is present at rest in about one third of the patients and can be provoked in another third. The histological features of HCM include myocyte hypertrophy and disarray, as well as interstitial fibrosis...
September 15, 2017: Circulation Research
https://www.readbyqxmd.com/read/28911943/heterozygous-deletion-of-akt1-rescues-cardiac-contractility-but-not-hypertrophy-in-a-mouse-model-of-noonan-syndrome-with-multiple-lentigines
#7
Rajika Roy, Maike Krenz
Noonan Syndrome with Multiple Lentigines (NSML) is associated with congenital heart disease in form of pulmonary valve stenosis and hypertrophic cardiomyopathy (HCM). Genetically, NSML is primarily caused by mutations in the non-receptor protein tyrosine phosphatase SHP2. Importantly, certain SHP2 mutations such as Q510E can cause a particularly severe form of HCM with heart failure in infancy. Due to lack of insight into the underlying pathomechanisms, an effective custom-tailored therapy to prevent heart failure in these patients has not yet been found...
September 11, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28911515/chronic-chagas-heart-disease%C3%A2-management-from-etiology-to-cardiomyopathy-treatment
#8
REVIEW
Edimar Alcides Bocchi, Reinaldo Bulgarelli Bestetti, Mauricio Ibrahim Scanavacca, Edecio Cunha Neto, Victor Sarli Issa
Trypanosoma cruzi (T. cruzi) infection is endemic in Latin America and is becoming a worldwide health burden. It may lead to heterogeneous phenotypes. Early diagnosis of T. cruzi infection is crucial. Several biomarkers have been reported in Chagas heart disease (ChHD), but most are nonspecific for T. cruzi infection. Prognosis of ChHD patients is worse compared with other etiologies, with sudden cardiac death as an important mode of death. Most ChHD patients display diffuse myocarditis with fibrosis and hypertrophy...
September 19, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28904721/septal-alcoholization-in-hypertrophic-cardiomyopathy-about-11-cases
#9
Yibar Kambiré, Georges Rosario Christian Millogo, Claire Dauphin, Jean-René Lusson
Outcomes of septal alcoholization in hypertrophic obstructive cardiomyopathy are not enough studied in all centers. The purpose of this study was to determine the outcomes of septal alcoholization in hypertrophic obstructive cardiomyopathy in our hospital. A retrospective and prospective descriptive study focused on all patients aged at least 18 years treated by alcohol septal ablation between July 2005 and June 2010 in the cardiology unit of Clermont-Ferrand teaching Hospital. The inclusion criteria were, hypertrophic obstructive cardiomyopathy with left ventricular outflow tract obstruction ≥ 50 mmHg, symptomatic despite optimal medical therapy...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28901418/profilin%C3%A2-1-contributes-to-cardiac-injury-induced-by-advanced-glycation-end%C3%A2-products-in-rats
#10
Dafeng Yang, Weiwei Liu, Liping Ma, Ya Wang, Jing Ma, Minna Jiang, Xu Deng, Fang Huang, Tianlun Yang, Meifang Chen
Cardiac injury, including hypertrophy and fibrosis, induced by advanced glycation end products (AGEs) has an important function in the onset and development of diabetic cardiomyopathy. Profilin‑1, a ubiquitously expressed and multifunctional actin‑binding protein, has been reported to be an important mediator in cardiac hypertrophy and fibrosis. However, whether profilin‑1 is involved in AGE‑induced cardiac hypertrophy and fibrosis remains to be determined. Therefore, the present study aimed to investigate the function of profilin‑1 in cardiac injury induced by AGEs...
September 8, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28883902/sirt1-activation-by-resveratrol-alleviates-cardiac-dysfunction-via-mitochondrial-regulation-in-diabetic-cardiomyopathy-mice
#11
Sai Ma, Jing Feng, Ran Zhang, Jiangwei Chen, Dong Han, Xiang Li, Bo Yang, Xiujuan Li, Miaomiao Fan, Congye Li, Zuhong Tian, Yabin Wang, Feng Cao
BACKGROUND: Diabetic cardiomyopathy (DCM) is a major threat for diabetic patients. Silent information regulator 1 (SIRT1) has a regulatory effect on mitochondrial dynamics, which is associated with DCM pathological changes. Our study aims to investigate whether resveratrol, a SRIT1 activator, could exert a protective effect against DCM. METHODS AND RESULTS: Cardiac-specific SIRT1 knockout (SIRT1(KO)) mice were generated using Cre-loxP system. SIRT1(KO) mice displayed symptoms of DCM, including cardiac hypertrophy and dysfunction, insulin resistance, and abnormal glucose metabolism...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28882819/cardiomyocyte-specific-telomere-shortening-is-a-distinct-signature-of-heart-failure-in-humans
#12
Maryam Sharifi-Sanjani, Nicholas M Oyster, Elisia D Tichy, Kenneth C Bedi, Ofer Harel, Kenneth B Margulies, Foteini Mourkioti
BACKGROUND: Telomere defects are thought to play a role in cardiomyopathies, but the specific cell type affected by the disease in human hearts is not yet identified. The aim of this study was to systematically evaluate the cell type specificity of telomere shortening in patients with heart failure in relation to their cardiac disease, age, and sex. METHODS AND RESULTS: We studied cardiac tissues from patients with heart failure by utilizing telomere quantitative fluorescence in situ hybridization, a highly sensitive method with single-cell resolution...
September 7, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28879059/pulmonary-hypertension-and-cardiac-hypertrophy-in-children-recipients-of-orthotopic-living-related-liver-transplantation
#13
Magd A Kotb, Inas Abd El Satar, Ahmed M Badr, Nancy H Anis, Hoda Abd El Rahman Ismail, Alaa F Hamza, Hesham M Abdelkader
Surgical stress, liberation of cytokines associated with re-perfusion injury, and long standing use of immune suppressive medications in children recipients of orthotopic living related liver transplantation (OLRLT) pose cardiovascular risk. Reported cardiovascular adverse effects vary from left ventricular wall thickening, hypertrophic cardiomyopathy to resting ECG abnormalities, asymptomatic ST depression following increased heart rate and ventricular arrhythmias. Twenty-five consecutive children recipients of OLRLT were assessed by conventional 2-D, M-mode echocardiography and Doppler...
November 2017: Journal of Advanced Research
https://www.readbyqxmd.com/read/28874825/knockout-of-the-atpase-inhibitory-factor-1-protects-the-heart-from-pressure-overload-induced-cardiac-hypertrophy
#14
Kevin Yang, Qinqiang Long, Kamalamma Saja, Fengyuan Huang, Steven M Pogwizd, Lufang Zhou, Masasuke Yoshida, Qinglin Yang
Mitochondrial ATP synthase catalyzes the coupling of oxidative phosphorylation. Under pathological conditions, ATP synthase hydrolyzes ATP to replenish protons from the matrix into the intermembrane space, sustaining mitochondrial membrane potential. ATPase inhibitory factor 1 (IF1) is a nuclear-encoded, ATP synthase-interacting protein that selectively inhibits the hydrolysis activity of ATP synthase, which may render the protective role of IF1 in ischemic hearts. However, the in vivo cardiac function of IF1 and the potential therapeutic application targeting IF1 remain obscure...
September 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28874324/complex-phenotype-linked-to-a-mutation-in-exon-11-of-the-lamin-a-c-gene-hypertrophic-cardiomyopathy-atrioventricular-block-severe-dyslipidemia-and-diabetes
#15
Ana Rita G Francisco, Inês Santos Gonçalves, Fátima Veiga, Mónica Mendes Pedro, Fausto J Pinto, Dulce Brito
The lamin A/C (LMNA) gene encodes lamins A and C, which have an important role in nuclear cohesion and chromatin organization. Mutations in this gene usually lead to the so-called laminopathies, the primary cardiac manifestations of which are dilated cardiomyopathy and intracardiac conduction defects. Some mutations, associated with lipodystrophy but not cardiomyopathy, have been linked to metabolic abnormalities such as diabetes and severe dyslipidemia. Herein we describe a new phenotype associated with a mutation in exon 11 of the LMNA gene: hypertrophic cardiomyopathy, atrioventricular block, severe dyslipidemia and diabetes...
September 2, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/28870983/ischaemia-as-a-cause-of-lvot-gradient-reversal-in-hocm
#16
Camelia Demetrescu, Shelley Rahman Haley, Aigul Baltabaeva
We present the case of a sprightly 84 year old female with hypertrophic obstructive cardiomyopathy (HOCM) echo phenotype with asymmetrical septal hypertrophy, significant left ventricular (LV) outflow obstruction (LVOT) and mitral regurgitation (MR) at rest. Valsalva provocation caused an increase in LVOT dynamic gradient and MR severity. The patient presented with progressive decrease in exercise capacity and chest pain relieved by rest or sublingual GTN spray. Exercise stress echo demonstrated a paradoxical response with reduction of both LVOT gradient and severity of MR...
September 4, 2017: Echo Research and Practice
https://www.readbyqxmd.com/read/28866666/the-cumulative-effects-of-the-myh7-v878a-and-cacna1c-a1594v-mutations-in-a-chinese-family-with-hypertrophic-cardiomyopathy
#17
Bo Wang, Rui-Qi Guo, Jing Wang, Fan Yang, Lei Zuo, Ying Liu, Hong Shao, Yan Ju, Chao Sun, Lei Xu, Yan-Min Zhang, Li-Feng Wang, Li-Wen Liu
AIMS: We investigated the pathogenesis of MYH7-V878A and CACNA1C-A1594V mutations in a Chinese family with hypertrophic cardiomyopathy. METHODS: Clinical, electrocardiographic (ECG), echocardiographic, and cardiac magnetic resonance (CMR) examinations of members of a Chinese family were followed by exon and boarding intron analyses of 96 genes in the proband using second-generation sequencing. We confirmed the mutations by bidirectional Sanger sequencing in the members and in 300 healthy controls...
September 2, 2017: Cardiology
https://www.readbyqxmd.com/read/28866639/over-expression-of-mirna-9-generates-muscle-hypercontraction-through-translational-repression-of-the-troponin-t-in-drosophila%C3%A2-indirect-flight-muscles
#18
Prasanna Katti, Divesh Thimmaya, Aditi Madan, Upendra Nongthomba
miRNAs are small non-coding endogenous RNAs, typically 21-23 nucleotides long, that regulate gene expression, usually post-transcriptionally by binding to the 3'-UTR of target mRNA, thus blocking translation. The expression of several miRNAs is significantly altered during cardiac hypertrophy, myocardial ischemia, fibrosis, heart failure and other cardiac myopathies. Recent studies have implicated miR-9 in myocardial hypertrophy. However a detailed mechanism remains obscure. In this study, we have addressed the roles of miR-9 in muscle development and function using the genetically tractable model system, the indirect flight muscles (IFMs) of Drosophila melanogaster Bioinformatics analysis identified 135 potential miR-9a targets, of which 27 genes were associated with Drosophila muscle development...
September 2, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28863015/heart-failure-in-persons-living-with-hiv-infection
#19
Priscilla Y Hsue, David D Waters
PURPOSE OF REVIEW: To discuss presentation, pathophysiology, complications, and treatment of heart failure in persons living with HIV (PLWHIV) in the antiretroviral therapy (ART) era. RECENT FINDINGS: Since the advent of effective ART and improved longevity, heart failure has become more chronic and insidious and is often characterized by preserved ejection fraction, diastolic dysfunction, and left ventricular (LV) hypertrophy. The mechanism underlying heart failure in the setting of HIV infection remains unknown...
August 31, 2017: Current Opinion in HIV and AIDS
https://www.readbyqxmd.com/read/28856513/emerging-pharmacologic-and-structural-therapies-for-hypertrophic-cardiomyopathy
#20
REVIEW
Daniel J Philipson, Eugene C DePasquale, Eric H Yang, Arnold S Baas
Hypertrophic cardiomyopathy is the most common inherited heart disease. Although it was first described over 50 years ago, there has been little in the way of novel disease-specific therapeutic development for these patients. Current treatment practice largely aims at symptomatic control using old drugs made for other diseases and does little to modify the disease course. Septal reduction by surgical myectomy or percutaneous alcohol septal ablation are well-established treatments for pharmacologic-refractory left ventricular outflow tract obstruction in hypertrophic cardiomyopathy patients...
August 31, 2017: Heart Failure Reviews
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