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https://www.readbyqxmd.com/read/28636508/how-to-perform-stress-exercise-echocardiography-in-hypertrophic-cardiomyopathy
#1
Patricia Reant, Stephane Lafitte, Amelie Reynaud
No abstract text is available yet for this article.
March 21, 2017: Acta Cardiologica
https://www.readbyqxmd.com/read/28630914/deregulated-ca-2-cycling-underlies-the-development-of-arrhythmia-and-heart-disease-due-to-mutant-obscurin
#2
Li-Yen R Hu, Maegen A Ackermann, Peter A Hecker, Benjamin L Prosser, Brendan King, Kelly A O'Connell, Alyssa Grogan, Logan C Meyer, Christopher E Berndsen, Nathan T Wright, W Jonathan Lederer, Aikaterini Kontrogianni-Konstantopoulos
Obscurins are cytoskeletal proteins with structural and regulatory roles encoded by OBSCN. Mutations in OBSCN are associated with the development of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). Specifically, the R4344Q mutation present in immunoglobulin domain 58 (Ig58) was the first to be linked with the development of HCM. To assess the effects of R4344Q in vivo, we generated the respective knock-in mouse model. Mutant obscurins are expressed and incorporated normally into sarcomeres...
June 2017: Science Advances
https://www.readbyqxmd.com/read/28630369/alpk3-gene-mutation-in-a-patient-with-congenital-cardiomyopathy-and-dysmorphic-features
#3
Ahmet Okay Cağlayan, Rabia Gonul Sezer, Hande Kaymakcalan, Ege Ulgen, Taner Yavuz, Jacob F Baranoski, Abdulkadir Bozaykut, Akdes Serin Harmanci, Yalim Yalcin, Mark W Youngblood, Katsuhito Yasuno, Kaya Bilguvar, Murat Gunel
Primary cardiomyopathy is one of the most common inherited cardiac diseases and harbors significant phenotypic and genetic heterogeneity. Because of this, genetic testing has become standard in treatment of this disease group. Indeed, in recent years, next-generation DNA sequencing has found broad applications in medicine, both as a routine diagnostic tool for genetic disorders and also as a high-throughput discovery tool for identifying novel disease causing genes. We describe a male infant with primary dilated cardiomyopathy that was diagnosed using intrauterine echocardiography, and found to progress to hypertrophic cardiomyopathy after birth...
June 19, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28627787/psychiatric-and-cognitive-characteristics-of-individuals-with-danon-disease-lamp2-gene-mutation
#4
Maya Yardeni, Omri Weisman, Hanna Mandel, Ronnie Weinberger, Giovanni Quarta, Joel Salazar-Mendiguchía, Pablo Garcia-Pavia, Maria José Lobato-Rodríguez, Lourdes Fajardo Simon, Freimark Dov, Michael Arad, Doron Gothelf
Danon disease (DD) is a rare X-linked disorder caused by loss-of-function mutations in the LAMP2 gene, which encodes lysosome-associated membrane protein. It is characterized by the triad of hypertrophic cardiomyopathy, myopathy, and intellectual disability. Whereas the molecular and pathophysiological mechanisms underlying this disorder have been previously reported and continue to be explored, the cognitive deficits and psychiatric comorbidities manifested in DD remain an understudied topic. We systematically assessed cognitive abilities and psychiatric comorbidities in 13 males and females...
June 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28626079/editorial-focus-on-h-00813-2016r1-prkag2-gene-and-hypertrophic-cardiomyopathy-an-energetically-imbalanced-relationship
#5
Martina Calore
No abstract available.
June 16, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28625400/successful-treatment-of-ventricular-fibrillation-storm-triggered-by-short-long-short-sequence-time-to-avoid-managed-ventricular-pacing
#6
Hilmi Alnsasra, Yuval Konstantino, Sergiy Bereza, Moti Haim
Sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM) is caused by ventricular tachyarrhythmia that can be effectively treated by implantable cardioverter defibrillator (ICD) therapy. We report of a 28-year-old man with HCM and a dual chamber ICD, originally implanted for primary prevention of SCD, (programmed to AAI(R)-DDD(R); managed ventricular pacing (MVP) mode, Medtronic Inc. St Paul, MN USA). He presented with recurrent ICD shocks due to ventricular fibrillation (VF) despite antiarrhythmic therapy...
June 8, 2017: Journal of Electrocardiology
https://www.readbyqxmd.com/read/28624223/evaluation-of-mybpc3-trans-splicing-and-gene-replacement-as-therapeutic-options-in-human-ipsc-derived-cardiomyocytes
#7
Maksymilian Prondzynski, Elisabeth Krämer, Sandra D Laufer, Aya Shibamiya, Ole Pless, Frederik Flenner, Oliver J Müller, Julia Münch, Charles Redwood, Arne Hansen, Monica Patten, Thomas Eschenhagen, Giulia Mearini, Lucie Carrier
Gene therapy is a promising option for severe forms of genetic diseases. We previously provided evidence for the feasibility of trans-splicing, exon skipping, and gene replacement in a mouse model of hypertrophic cardiomyopathy (HCM) carrying a mutation in MYBPC3, encoding cardiac myosin-binding protein C (cMyBP-C). Here we used human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) from an HCM patient carrying a heterozygous c.1358-1359insC MYBPC3 mutation and from a healthy donor. HCM hiPSC-CMs exhibited ∼50% lower MYBPC3 mRNA and cMyBP-C protein levels than control, no truncated cMyBP-C, larger cell size, and altered gene expression, thus reproducing human HCM features...
June 16, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28620551/mitochondrial-cardiomyopathy-presenting-as-dilated-phase-of-hypertrophic-cardiomyopathy-diagnosed-with-histological-and-genetic-analyses
#8
Toshiki Kuno, Syohei Imaeda, Yohei Asakawa, Hiroshi Nakamura, Genzou Takemura, Daisuke Asahara, Akira Kanamori, Tomoyuki Kabutoya, Yohei Numasawa
We report a case with 46-year-old man diagnosed with mitochondrial cardiomyopathy in the dilated phase of hypertrophic cardiomyopathy. Since cardiac magnetic resonance imaging, beta-methyl-p-(123)I-iodophenyl-pentadecanoic myocardial scintigraphy, and positron emission tomography/computed tomography revealed no remarkable findings, we performed electron microscopic examination, which aided in diagnosing mitochondrial cardiomyopathy. Muscle biopsy was also compatible with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes and DNA analysis also concluded it...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28618149/sudden-cardiac-death-in-the-young-epidemiology-and-overview
#9
Mark S Link
Sudden cardiac death (SCD), particularly in the young athlete, is a rare though devastating event for families, institutions, and communities at large. It can also affect the nonathlete and occur at rest, although most commonly associated with exercise activities and/or sports participation. Common causes of SCD include cardiomyopathies, particularly hypertrophic cardiomyopathy in the United States, congenital coronary artery anomalies, channelopathies, among others. This report will explore an overview of the prevalence and causes of SCD in the young...
June 15, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28617995/investigation-of-an-n-terminal-prohormone-of-brain-natriuretic-peptide-point-of-care-elisa-in-clinically-normal-cats-and-cats-with-cardiac-disease
#10
A N Harris, S S Beatty, A H Estrada, B Winter, M Bohannon, I Sosa, J Hanscom, C A Mainville, A E Gallagher
BACKGROUND: N-terminal prohormone of brain natriuretic peptide (NT-proBNP) concentrations may be increased in cats with various cardiac disorders. The point-of-care (POC) ELISA assay uses the same biologic reagents as the quantitative NT-proBNP ELISA. Previous studies have evaluated the sensitivity and specificity of the POC ELISA in cats with cardiac disease. OBJECTIVES: To prospectively evaluate the diagnostic utility of the POC ELISA in a select population of cats...
June 15, 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28616729/prediction-of-the-estimated-5-year-risk-of-sudden-cardiac-death-and-syncope-or-non-sustained-ventricular-tachycardia-in-patients-with-hypertrophic-cardiomyopathy-using-late-gadolinium-enhancement-and-extracellular-volume-cmr
#11
Maxim Avanesov, Julia Münch, Julius Weinrich, Lennart Well, Dennis Säring, Christian Stehning, Enver Tahir, Sebastian Bohnen, Ulf K Radunski, Kai Muellerleile, Gerhard Adam, Monica Patten, Gunnar Lund
OBJECTIVES: To evaluate the ability of late gadolinium enhancement (LGE) and mapping cardiac magnetic resonance (CMR) including native T1 and global extracellular volume (ECV) to identify hypertrophic cardiomyopathy (HCM) patients at risk for sudden cardiac death (SCD) and to predict syncope or non-sustained ventricular tachycardia (VT). METHODS: A 1.5-T CMR was performed in 73 HCM patients and 16 controls. LGE size was quantified using the 3SD, 5SD and full width at half maximum (FWHM) method...
June 14, 2017: European Radiology
https://www.readbyqxmd.com/read/28616558/left-ventricular-diastolic-gradient-in-hypertrophic-cardiomyopathy
#12
Filomena Pacelli, Antonio Rapacciuolo, Alessandra Giamundo, Grazia Canciello, Anna Franzone, Massimo Imbriaco, Bruno Trimarco, Maria-Angela Losi
No abstract text is available yet for this article.
March 2017: IJC Heart & Vasculature
https://www.readbyqxmd.com/read/28615295/burden-of-recurrent-and-ancestral-mutations-in-families-with-hypertrophic-cardiomyopathy
#13
Samantha Barratt Ross, Richard D Bagnall, Jodie Ingles, J Peter Van Tintelen, Christopher Semsarian
BACKGROUND: Hypertrophic cardiomyopathy is a genetically heterogeneous myocardial disease with >1000 causal variants identified. Nonunique variants account for disease in many families. We sought to characterize nonunique variants in Australian families and determine whether they arise from common ancestral mutations or recurrent mutation events. METHODS AND RESULTS: Genetic test results of 467 index patients from apparently unrelated families with hypertrophic cardiomyopathy were evaluated...
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28614966/persistently-elevated-nuchal-translucency-and-the-fetal-heart
#14
Trisha V Vigneswaran, Tessa Homfray, Lindsey D Allan, John M Simpson, Vita Zidere
We describe the outcome of fifteen cases with an elevated nuchal translucency (NT) which persisted into the second trimester as nuchal edema (NE) > 6 mm whom underwent fetal echocardiography. Cases were identified following retrospective review of cardiac and genetic findings with NE. Minor congenital heart disease was identified in 3/15 by the second trimester. Agenesis of the ductus venosus was evident in four. Pulmonary valve stenosis was diagnosed in one fetus at the 20-week scan and hypertrophic cardiomyopathy in one...
June 14, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28614597/esc-sudden-death-risk-model-in-hypertrophic-cardiomyopathy-incremental-value-of-quantitative-contrast-enhanced-cmr-in-intermediate-risk-patients
#15
Rocio Hinojar, José Luis Zamorano, Ariana Gonzalez Gómez, Maria Plaza Martin, Amparo Esteban, Luis Miguel Rincón, Juan Carlos Portugal, José Julio Jimenez Nácher, Covadonga Fernández-Golfín
BACKGROUND: Hypertrophic cardiomyopathy (HCM) remains the most common cause of sudden cardiac death (SCD) in the young; however, current strategies do not identify all HCM patients at risk. A novel validated algorithm was proposed by the last European Society of Cardiology guidelines to guide implantable cardioverter-defibrillator (ICD) therapy. Recently, extensive myocardial fibrosis was independently associated with increased risk of SCD events. This study aimed to establish the relation between myocardial fibrosis (late gadolinium enhancement [LGE] extension) and the novel SCD risk-prediction model in a real population of HCM to evaluate its potential additional value in the different risk groups...
June 14, 2017: Clinical Cardiology
https://www.readbyqxmd.com/read/28614222/next-generation-sequencing-identifies-pathogenic-and-modifier-mutations-in-a-consanguineous-chinese-family-with-hypertrophic-cardiomyopathy
#16
Xinlin Zhang, Jun Xie, Suhui Zhu, Yuhan Chen, Lian Wang, Biao Xu
Hypertrophic cardiomyopathy (HCM) is a highly heterogeneous disease displaying considerable interfamilial and intrafamilial phenotypic variation, including disease severity, age of onset, and disease progression. This poorly understood variance raises the possibility of genetic modifier effects, particularly in MYBPC3-associated HCM.In a large consanguineous Chinese HCM family, we identified 8 members harboring the MYBPC3 c.3624delC (p.Lys1209Serfs) disease-causing mutation, but with very disparate phenotypes...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28613082/impact-of-the-implantable-cardioverter-defibrillator-on-confidence-to-undertake-physical-activity-in-inherited-heart-disease-a-cross-sectional-study
#17
Joanna Sweeting, Kylie Ball, Julie McGaughran, John Atherton, Christopher Semsarian, Jodie Ingles
BACKGROUND: Physical activity is associated with improved quality of life. Patients with an implantable cardioverter defibrillator (ICD) face unique clinical and psychological challenges. Factors such as fear of ICD shock may negatively impact on physical activity, while a sense of protection gained from the ICD may instil confidence to be active. AIM: We aimed to examine the impact of an ICD on physical activity levels and factors associated with amount of activity...
June 1, 2017: European Journal of Cardiovascular Nursing
https://www.readbyqxmd.com/read/28612913/the-usefulness-of-soluble-st2-and-galectin-3-as-novel-biomarkers-for-better-risk-stratification-in-hypertrophic-cardiomyopathy
#18
Monika Gawor, Mateusz Śpiewak, Jadwiga Janas, Katarzyna Kożuch, Aleksandra Wróbel, Łukasz Mazurkiewicz, Rafał Baranowski, Magdalena Marczak, Jacek Grzybowski
BACKGROUND: Estimation of sudden cardiac death (SCD) risk is an integral part of clinical management of patients with hypertrophic cardiomyopathy (HCM). Identification of novel biomarkers of this disease can provide additional criteria for SCD risk stratification. Soluble suppression of tumorigenicity (sST2) and galectin-3 (Gal-3) are useful biomarkers for prognosis of heart failure (HF). Both of them appear to mediate cardiac fibrosis - an important pathogenetic process in HCM. Data about sST2 and Gal-3 usefulness in patients with HCM are limited...
June 14, 2017: Kardiologia Polska
https://www.readbyqxmd.com/read/28612277/3-0%C3%A2-t-magnetic-resonance-myocardial-perfusion-imaging-for-semi-quantitative-evaluation-of-coronary-microvascular-dysfunction-in-hypertrophic-cardiomyopathy
#19
Liang Yin, Hai-Yan Xu, Sui-Sheng Zheng, Ying Zhu, Jiang-Xi Xiao, Wei Zhou, Si-Si Yu, Liang-Geng Gong
This study aimed to assess coronary microvascular dysfunction (CMD) differences in hypertrophic cardiomyopathy (HCM) patients using cardiac magnetic resonance (CMR) first-pass perfusion and late gadolinium enhancement imaging. Forty-seven patients with HCM and twenty-one healthy volunteers underwent CMR at rest. Imaging protocols included short axis cine, first-pass myocardial perfusion, and late gadolinium enhancement (LGE). Left ventricular end-diastolic wall thickness (EDTH), LGE, time to peak (Tpeak), maximal up-slope (Slopemax), and peak signal intensity (SIpeak) were assessed for each myocardial segment...
June 13, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/28607615/diffuse-interstitial-fibrosis-assessed-by-cardiac-magnetic-resonance-is-associated-with-dispersion-of-ventricular-repolarization-in-patients-with-hypertrophic-cardiomyopathy
#20
David Hurtado-de-Mendoza, Celia P Corona-Villalobos, Iraklis Pozios, Jorge Gonzales, Yalda Soleimanifard, Sanjay Sivalokanathan, Diego Montoya-Cerrillo, Styliani Vakrou, Ihab Kamel, Wilfredo Mormontoy-Laurel, Ketty Dolores-Cerna, Jacsel Suarez, Sergio Perez-Melo, David A Bluemke, Theodore P Abraham, Stefan L Zimmerman, M Roselle Abraham
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is characterized by myocyte hypertrophy, disarray, fibrosis, and increased risk for ventricular arrhythmias. Increased QT dispersion has been reported in patients with HCM, but the underlying mechanisms have not been completely elucidated. In this study, we examined the relationship between diffuse interstitial fibrosis, replacement fibrosis, QTc dispersion and ventricular arrhythmias in patients with HCM. We hypothesized that fibrosis would slow impulse propagation and increase dispersion of ventricular repolarization, resulting in increased QTc dispersion on surface electrocardiogram (ECG) and ventricular arrhythmias...
June 2017: Journal of Arrhythmia
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