keyword
MENU ▼
Read by QxMD icon Read
search

Sarcomeric cardiomyopathy

keyword
https://www.readbyqxmd.com/read/28323875/the-clinical-features-outcomes-and-genetic-characteristics-of-hypertrophic-cardiomyopathy-patients-with-severe-right-ventricular-hypertrophy
#1
Xiying Guo, Chaomei Fan, Lei Tian, Yanling Liu, Hongyue Wang, Shihua Zhao, Fujian Duan, Xiuling Zhang, Xing Zhao, Fengqi Wang, Hongguang Zhu, Aiqing Lin, Xia Wu, Yishi Li
INTRODUCTION: Severe right ventricular hypertrophy (SRVH) is a rare phenotype in hypertrophic cardiomyopathy (HCM) for which limited information is available. This study was undertaken to investigate the clinical, prognostic and genetic characteristics of HCM patients with SRVH. METHODS: HCM with SRVH was defined as HCM with a maximum right ventricular wall thickness ≥10 mm. Whole-genome sequencing (WGS) was performed in HCM patients with SRVH. Multivariate Cox proportional hazards regression models were used to identify risk factors for cardiac death and events in HCM with SRVH...
2017: PloS One
https://www.readbyqxmd.com/read/28322254/stk38-modulates-rbm24-protein-stability-to-regulate-sarcomere-assembly-in-cardiomyocytes
#2
Jing Liu, Xu Kong, Lee Yew Mun, Zhang Meng Kai, Guo Li Yan, Yu Lin, Teck Kwang Lim, Qingsong Lin, Xiu Qin Xu
RNA-binding protein Rbm24 is a key regulator of heart development and required for sarcomere assembly and heart contractility. Yet, its underlying mechanism remains unclear. Here, we link serine/threonine kinase 38 (Stk38) signaling to the regulation of Rbm24 by showing that Rbm24 phosphorylation and its function could be modulated by Stk38. Using co-immunoprecipitation coupled with mass spectrometry technique, we identified Stk38 as an endogenous binding partner of Rbm24. Stk38 knockdown resulted in decreased Rbm24 protein level in cardiomyocytes...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28296734/genetic-anticipation-in-a-special-form-of-hypertrophic-cardiomyopathy-with-sudden-cardiac-death-in-a-family-with-74-members-across-5-generations
#3
Xiying Guo, Chaomei Fan, Yanping Wang, Miao Wang, Chi Cai, Yinjian Yang, Shihua Zhao, Fujian Duan, Yishi Li
Hypertrophic cardiomyopathy (HCM) is the most common heritable heart disease. The genetic anticipation of HCM and its associated etiology, sudden cardiac death (SCD), remains unclear. The aim of this study was to investigate the mechanism underlying the genetic anticipation of HCM and associated SCD.An HCM family including 5 generations and 74 members was studied. Two-dimensional echocardiography was performed to diagnose HCM. The age of onset of HCM was defined as the age at first diagnosis according to hospital records...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28265217/titanium-plug-closure-after-heartware-ventricular-assist-device-explantation-in-a-15-year-old-girl-first-u-s-experience
#4
Diego A Lara, Aamir Jeewa, Barbara A Elias, Elizabeth O McCullum, Susan W Denfield, William J Dreyer, Iki Adachi
We describe the case of a teenage girl with anthracycline-induced cardiomyopathy who received a HeartWare ventricular assist device and underwent successful device explantation after cardiac recovery. During device support, the patient's cardiac function returned to normal. Twelve months after implantation, we explanted the device via repeat median sternotomy. To close the hole in the left ventricular apex and preserve the sewing ring in case future device support is needed, we used a German-manufactured titanium plug, developed specifically for this purpose...
February 2017: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28265101/myosin-filament-activation-in-the-heart-is-tuned-to-the-mechanical-task
#5
Massimo Reconditi, Marco Caremani, Francesca Pinzauti, Joseph D Powers, Theyencheri Narayanan, Ger J M Stienen, Marco Linari, Vincenzo Lombardi, Gabriella Piazzesi
The mammalian heart pumps blood through the vessels, maintaining the dynamic equilibrium in a circulatory system driven by two pumps in series. This vital function is based on the fine-tuning of cardiac performance by the Frank-Starling mechanism that relates the pressure exerted by the contracting ventricle (end systolic pressure) to its volume (end systolic volume). At the level of the sarcomere, the structural unit of the cardiac myocytes, the Frank-Starling mechanism consists of the increase in active force with the increase of sarcomere length (length-dependent activation)...
March 6, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28256008/loss-of-base-to-apex-circumferential-strain-gradient-a-specific-pattern-of-fabry-cardiomyopathy
#6
Fabien Labombarda, Eric Saloux, Guillaume Milesi, Boris Bienvenu
INTRODUCTION AND OBJECTIVES: Cardiac manifestations in Fabry disease are mainly characterized by left ventricular hypertrophy (LVH). The aims of this study were (1) to describe the pattern of regional strain in patients with Fabry disease and (2) to assess whether this pattern may help differentiate patients with Fabry disease from patients with sarcomeric hypertrophic cardiomyopathy (HCM). METHODS: Seventy-seven subjects were investigated: patients with Fabry disease (n=37; 57% with LVH), patients with HCM (n=21), and healthy controls (n=19)...
March 2, 2017: Echocardiography
https://www.readbyqxmd.com/read/28246639/biophysical-properties-of-human-%C3%AE-cardiac-myosin-with-converter-mutations-that-cause-hypertrophic-cardiomyopathy
#7
Masataka Kawana, Saswata S Sarkar, Shirley Sutton, Kathleen M Ruppel, James A Spudich
Hypertrophic cardiomyopathy (HCM) affects 1 in 500 individuals and is an important cause of arrhythmias and heart failure. Clinically, HCM is characterized as causing hypercontractility, and therapies are aimed toward controlling the hyperactive physiology. Mutations in the β-cardiac myosin comprise ~40% of genetic mutations associated with HCM, and the converter domain of myosin is a hotspot for HCM-causing mutations; however, the underlying primary effects of these mutations on myosin's biomechanical function remain elusive...
February 2017: Science Advances
https://www.readbyqxmd.com/read/28242778/%C3%AE-b-crystallin-reverses-high-diastolic-stiffness-of-failing-human-cardiomyocytes
#8
Constantijn Franssen, Jeroen Kole, René Musters, Nazha Hamdani, Walter J Paulus
BACKGROUND: Cardiomyocytes with a less distensible titin and interstitial collagen contribute to the high diastolic stiffness of failing myocardium. Their relative contributions and mechanisms underlying loss of titin distensibility were assessed in failing human hearts. METHODS AND RESULTS: Left ventricular tissue was procured in patients with aortic stenosis (AS, n=9) and dilated cardiomyopathy (DCM, n=6). Explanted donor hearts (n=8) served as controls. Stretches were performed in myocardial strips, and an extraction protocol differentiated between passive tension (Fpassive) attributable to cardiomyocytes or to collagen...
March 2017: Circulation. Heart Failure
https://www.readbyqxmd.com/read/28241245/the-burden-of-early-phenotypes-and-the-influence-of-wall-thickness-in-hypertrophic-cardiomyopathy-mutation-carriers-findings-from-the-hcmnet-study
#9
Carolyn Y Ho, Sharlene M Day, Steven D Colan, Mark W Russell, Jeffrey A Towbin, Mark V Sherrid, Charles E Canter, John L Jefferies, Anne M Murphy, Allison L Cirino, Theodore P Abraham, Matthew Taylor, Luisa Mestroni, David A Bluemke, Petr Jarolim, Ling Shi, Lynn A Sleeper, Christine E Seidman, E John Orav
Importance: Sarcomere mutations and left ventricular (LV) hypertrophy (LVH) are cardinal features of hypertrophic cardiomyopathy (HCM). However, little is known about the full spectrum of phenotypic manifestations or how LVH influences disease expression. Objectives: (1) To characterize and assess phenotypic burden in sarcomere mutation carriers (genotype positive [G+]) and (2) to investigate the correlation between LV wall thickness (LVWT) and other disease features in mutation carriers...
February 22, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28241236/assessing-the-phenotypic-burden-of-preclinical-sarcomeric-hypertrophic-cardiomyopathy-new-assessments-to-guide-diagnosis-and-management
#10
Jil C Tardiff
No abstract text is available yet for this article.
February 22, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28239655/alterations-in-sarcomere-function-modify-the-hyperplastic-to-hypertrophic-transition-phase-of-mammalian-cardiomyocyte-development
#11
Benjamin R Nixon, Alexandra F Williams, Michael S Glennon, Alejandro E de Feria, Sara C Sebag, H Scott Baldwin, Jason R Becker
It remains unclear how perturbations in cardiomyocyte sarcomere function alter postnatal heart development. We utilized murine models that allowed manipulation of cardiac myosin-binding protein C (MYBPC3) expression at critical stages of cardiac ontogeny to study the response of the postnatal heart to disrupted sarcomere function. We discovered that the hyperplastic to hypertrophic transition phase of mammalian heart development was altered in mice lacking MYBPC3 and this was the critical period for subsequent development of cardiomyopathy...
February 23, 2017: JCI Insight
https://www.readbyqxmd.com/read/28235781/pathogenesis-of-depression-and-anxiety-like-behavior-in-an-animal-model-of-hypertrophic-cardiomyopathy
#12
Amanda M Dossat, Marcos A Sanchez-Gonzalez, Andrew P Koutnik, Stefano Leitner, Edda L Ruiz, Brittany Griffin, Jens T Rosenberg, Samuel C Grant, Francis D Fincham, Jose R Pinto, Mohamed Kabbaj
Cardiovascular dysfunction is highly comorbid with mood disorders, such as anxiety and depression. However, the mechanisms linking cardiovascular dysfunction with the core behavioral features of mood disorder remain poorly understood. In this study, we used mice bearing a knock-in sarcomeric mutation, which is exhibited in human hypertrophic cardiomyopathy (HCM), to investigate the influence of HCM over the development of anxiety and depression. We employed behavioral, MRI, and biochemical techniques in young (3-4 mo) and aged adult (7-8 mo) female mice to examine the effects of HCM on the development of anxiety- and depression-like behaviors...
February 24, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28223422/a-potential-oligogenic-etiology-of-hypertrophic-cardiomyopathy-a-classic-single-gene-disorder
#13
Lili Li, Matthew N Bainbridge, Yanli Tan, James T Willerson, Ali J Marian
Rationale: Hypertrophic cardiomyopathy (HCM) is a prototypic single gene disease caused mainly by mutations in genes encoding sarcomere proteins. Despite the remarkable advances, the causal genes in about 40% of the HCM cases remain unknown, typically in small families and sporadic cases, wherein co-segregation could not be established. Objective: To test the hypothesis that the "missing causal genes" in HCM is, in part, because of an oligogenic etiology, wherein the pathogenic variants do not co-segregate with the phenotype...
February 21, 2017: Circulation Research
https://www.readbyqxmd.com/read/28220527/recessive-mypn-mutations-cause-cap-myopathy-with-occasional-nemaline-rods
#14
Xavière Lornage, Edoardo Malfatti, Chrystel Chéraud, Raphaël Schneider, Valérie Biancalana, Jean-Marie Cuisset, Matteo Garibaldi, Bruno Eymard, Michel Fardeau, Anne Boland, Jean-François Deleuze, Julie Thompson, Robert-Yves Carlier, Johann Böhm, Norma B Romero, Jocelyn Laporte
Congenital myopathies are phenotypically and genetically heterogeneous. We describe homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy. MYPN encodes the Z-line protein myopalladin implicated in sarcomere integrity. Functional experiments demonstrate that the mutations lead to mRNA defects and to a strong reduction in full-length protein expression. Myopalladin signals accumulate in the caps together with alpha-actinin. Dominant MYPN mutations were previously reported in cardiomyopathies...
February 21, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28194437/mitochondrial-quality-control-dysregulation-in-conditional-ho-1-mice
#15
Hagir B Suliman, Jeffrey E Keenan, Claude A Piantadosi
The heme oxygenase-1 (Hmox1; HO-1) pathway was tested for defense of mitochondrial quality control in cardiomyocyte-specific Hmox1 KO mice (HO-1[CM](-/-)) exposed to oxidative stress (100% O2). After 48 hours of exposure, these mice showed persistent cardiac inflammation and oxidative tissue damage that caused sarcomeric disruption, cardiomyocyte death, left ventricular dysfunction, and cardiomyopathy, while control hearts showed minimal damage. After hyperoxia, HO-1(CM)(-/-) hearts showed suppression of the Pgc-1α/nuclear respiratory factor-1 (NRF-1) axis, swelling, low electron density mitochondria by electron microscopy (EM), increased cell death, and extensive collagen deposition...
February 9, 2017: JCI Insight
https://www.readbyqxmd.com/read/28190577/dilated-cardiomyopathy
#16
REVIEW
Robert G Weintraub, Christopher Semsarian, Peter Macdonald
Dilated cardiomyopathy is defined by the presence of left ventricular dilatation and contractile dysfunction. Genetic mutations involving genes that encode cytoskeletal, sarcomere, and nuclear envelope proteins, among others, account for up to 35% of cases. Acquired causes include myocarditis and exposure to alcohol, drugs and toxins, and metabolic and endocrine disturbances. The most common presenting symptoms relate to congestive heart failure, but can also include circulatory collapse, arrhythmias, and thromboembolic events...
February 9, 2017: Lancet
https://www.readbyqxmd.com/read/28181243/proteasome-dysfunction-in-cardiomyopathies
#17
Jennifer E Gilda, Aldrin V Gomes
The ubiquitin-proteasome system (UPS) plays a critical role in removing unwanted intracellular proteins and is involved in protein quality control, signalling, and cell death. Because the heart is subject to continuous metabolic and mechanical stress, the proteasome plays a particularly important role in the heart, and proteasome dysfunction has been suggested as a causative factor in cardiac dysfunction. Proteasome impairment has been detected in cardiomyopathies, heart failure, myocardial ischemia, and hypertrophy...
February 8, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28151760/titin-truncating-mutations-in-dilated-cardiomyopathy-the-long-and-short-of-it
#18
Diane Fatkin, Inken G Huttner
PURPOSE OF REVIEW: Truncating variants in the TTN gene (TTNtv) are frequently identified in patients with dilated cardiomyopathy (DCM) but are also present in apparently healthy people in the general population. Consequently, there is considerable uncertainty about what it means for any single individual if a TTNtv is found. The aim of this review is to summarize current evidence implicating TTNtv in DCM pathogenesis and to provide some interpretative guidelines for clinical management...
February 1, 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28151473/knockout-of-eva1a-leads-to-rapid-development-of-heart-failure-by-impairing-autophagy
#19
Shu Zhang, Xin Lin, Ge Li, Xue Shen, Di Niu, Guang Lu, Xin Fu, Yingyu Chen, Ming Cui, Yun Bai
EVA1A (Eva-1 homologue A) is a novel lysosome and endoplasmic reticulum-associated protein that can regulate cell autophagy and apoptosis. Eva1a is expressed in the myocardium, but its function in myocytes has not yet been investigated. Therefore, we generated inducible, cardiomyocyte-specific Eva1a knockout mice with an aim to determine the role of Eva1a in cardiac remodelling in the adult heart. Data from experiments showed that loss of Eva1a in the adult heart increased cardiac fibrosis, promoted cardiac hypertrophy, and led to cardiomyopathy and death...
February 2, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28104714/long-term-biased-%C3%AE-arrestin-signaling-improves-cardiac-structure-and-function-in-dilated-cardiomyopathy
#20
David M Ryba, Jieli Li, Conrad L Cowan, Brenda Russell, Beata M Wolska, R John Solaro
BACKGROUND: Biased agonism of the angiotensin II receptor is known to promote cardiac contractility. Our laboratory indicated that these effects may be attributable to changes at the level of the myofilaments. However, these signaling mechanisms remain unknown. Because a common finding in dilated cardiomyopathy is a reduction in the myofilament-Ca(2)(+) response, we hypothesized that β-arrestin signaling would increase myofilament-Ca(2)(+) responsiveness in a model of familial dilated cardiomyopathy and improve cardiac function and morphology...
March 14, 2017: Circulation
keyword
keyword
76643
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"