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hypertrophic cardiomyopathy

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https://www.readbyqxmd.com/read/28445763/myosin-rod-hypophosphorylation-and-cb-kinetics-in-papillary-muscles-from-a-tnc-a8v-ki-mouse-model
#1
Masataka Kawai, Jamie R Johnston, Tarek Karam, Li Wang, Rakesh K Singh, Jose R Pinto
The cardiac troponin C (TnC)-A8V mutation is associated with hypertrophic and restrictive cardiomyopathy (HCM and RCM) in human and mice. The residue affected lies in the N-helix, a region known to affect Ca(2+)-binding affinity to the N-terminal domain. Here we report on the functional effects of this mutation in skinned papillary muscle fibers from homozygous knock-in TnC-A8V mice. Muscle fibers from left ventricle were activated at 25°C under the ionic conditions of working cardiomyocytes. The pCa-tension relationship showed a 3× increase in Ca(2+)-sensitivity and a decrease (0...
April 25, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28444773/mechanical-dispersion-and-global-longitudinal-strain-by-speckle-tracking-echocardiography-predictors-of-appropriate-implantable-cardioverter-defibrillator-therapy-in-hypertrophic-cardiomyopathy
#2
Ozkan Candan, Cetin Gecmen, Emrah Bayam, Ahmet Guner, Mehmet Celik, Cem Doğan
PURPOSE: In this study, we investigated whether mechanical dispersion which reflects electrical abnormality and other echocardiographic and clinic parameters predict appropriate ICD shock in patients undergone ICD implantation for hypertrophic cardiomyopathy. METHODS: Sixty-three patients who received ICD implantation for primary or secondary prevention were included in the study. Patients' clinical, electrocardiographic, 2D classic, and speckle tracking echocardiographic data were collected...
April 26, 2017: Echocardiography
https://www.readbyqxmd.com/read/28441660/the-phenotype-and-outcome-of-infantile-cardiomyopathy-caused-by-a-homozygous-elac2-mutation
#3
Zarghuna M A Shinwari, Abdulrahman Almesned, Ali Alakhfash, Ahmad M Al-Rashdan, Eissa Faqeih, Zainab Al-Humaidi, Ahmed Alomrani, Malak Alghamdi, Dilek Colak, Abdullah Alwadai, Monther Rababh, Majid Al-Fayyadh, Zuhair N Al-Hassnan
OBJECTIVE: Cardiomyopathy (CMP) in children is a clinically and genetically heterogeneous group of disorders. Disease-associated mutations have been identified in more than 50 genes. Recently, mutations in the mitochondrial tRNA processing gene, ELAC2, were reported to be associated with the recessively inherited form of hypertrophic CMP (HCM). This study is aimed at describing the cardiac phenotype and outcome of ELAC2 mutation. METHODS: We performed whole exome sequencing followed by targeted mutation screening to identify the genetic etiology of severe infantile-onset CMP in 64 consanguineous Saudi families...
April 26, 2017: Cardiology
https://www.readbyqxmd.com/read/28431779/propranolol
#4
Abdulrahman A Al-Majed, Ahmed H H Bakheit, Hatem A Abdel Aziz, Fahad M Alajmi, Haitham AlRabiah
Propranolol is a noncardioselective β-blocker. It is reported to have membrane-stabilizing properties, but it does not own intrinsic sympathomimetic activity. Propranolol hydrochloride is used to control hypertension, pheochromocytoma, myocardial infarction, cardiac arrhythmias, angina pectoris, and hypertrophic cardiomyopathy. It is also used to control symptoms of sympathetic overactivity in the management of hyperthyroidism, anxiety disorders, and tremor. Other indications cover the prophylaxis of migraine and of upper gastrointestinal bleeding in patients with portal hypertension...
2017: Profiles of Drug Substances, Excipients, and related Methodology
https://www.readbyqxmd.com/read/28431061/high-prevalence-of-arrhythmic-and-myocardial-complications-in-patients-with-cardiac-glycogenosis-due-to-prkag2-mutations
#5
Julien Thevenon, Gabriel Laurent, Flavie Ader, Pascal Laforêt, Didier Klug, Anju Duva Pentiah, Laurent Gouya, Claude Alain Maurage, Salem Kacet, Jean-Christophe Eicher, Juliette Albuisson, Michel Desnos, Eric Bieth, Denis Duboc, Laurent Martin, Patricia Réant, François Picard, Claire Bonithon-Kopp, Elodie Gautier, Christine Binquet, Christel Thauvin-Robinet, Laurence Faivre, Patrice Bouvagnet, Philippe Charron, Pascale Richard
Aims: Mutations in PRKAG2, the gene encoding for the γ2 subunit of 5'-AMP-activated protein kinase (AMPK), are responsible for an autosomal dominant glycogenosis with a cardiac presentation, associating hypertrophic cardiomyopathy (HCM), ventricular pre-excitation (VPE), and progressive heart block. The aim of this study was to perform a retrospective time-to-event study of the clinical manifestations associated with PRKAG2 mutations. Methods and Results: A cohort of 34 patients from 9 families was recruited between 2001 and 2010...
April 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28429690/-our-experience-in-the-diagnosis-and-treatment-of-postural-orthostatic-tachycardia-syndrome-vasovagal-syncope-and-inappropriate-sinus-tachycardia-in-children
#6
Sezen Ugan Atik, Reyhan Dedeoğlu, Aida Koka, Funda Öztunç
OBJECTIVES: The aim of this study was to share our experience in the diagnosis and treatment of patients who presented at our clinic with syncope, pre-syncope, dizziness, and palpitations. STUDY DESIGN: Patients who were treated at pediatric cardiology clinic for complaints of syncope, dizziness, and palpitations between 2014 and 2016 were enrolled in the study. Detailed history of the patients, physical examination findings, laboratory and electrocardiogram results were recorded...
April 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28428444/impact-of-atrial-fibrillation-on-the-clinical-course-of-apical-hypertrophic-cardiomyopathy
#7
Sang-Eun Lee, Jin-Kyu Park, Jae-Sun Uhm, Jong Youn Kim, Hui-Nam Pak, Moon-Hyoung Lee, Boyoung Joung
BACKGROUND: Apical hypertrophic cardiomyopathy (ApHCM) is considered a 'benign' form of hypertrophic cardiomyopathy, with limited data on the long-term outcome. However, the clinical impact of atrial fibrillation (AF) in ApHCM is largely unknown. The hypothesis was that AF is common and has a prognostic implication in ApHCM. METHODS: The occurrence of AF and outcome was assessed in 306 consecutive patients with ApHCM (68% male, 62±11 years). RESULTS: AF occurred in 77 patients with ApHCM (prevalence, 25...
April 20, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28427417/novel-trigenic-cacna1c-des-mypn-mutations-in-a-family-of-hypertrophic-cardiomyopathy-with-early-repolarization-and-short-qt-syndrome
#8
Yanhong Chen, Hector Barajas-Martinez, Dongxiao Zhu, Xihui Wang, Chonghao Chen, Ruijuan Zhuang, Jingjing Shi, Xueming Wu, Yijia Tao, Weidong Jin, Xiaoyan Wang, Dan Hu
BACKGROUND: Hypertrophic cardiomyopathy (HCM) patients with early repolarization (ER) pattern are at higher risk of ventricular arrhythmia, yet the genetic background of this situation has not been well investigated. Here we report novel trigenic mutations detected in a Chinese family of obstructive HCM with ER and short QT syndrome (SQTS). METHODS: Proband and family members underwent detailed medical assessments. DNAs were extracted from peripheral blood leukocytes for genetic screening with next generation method...
April 20, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28424545/efficacy-and-safety-of-alcohol-septal-ablation-in-patients-over-65-years-old-with-obstructive-hypertrophic-cardiomyopathy
#9
Laila Cheddadi, Olivier Lairez, Thibault Lhermusier, Francisco Campelo-Parada, Michel Galinier, Didier Carrié, Nicolas Boudou
BACKGROUND: The performance of alcohol septal ablation (ASA) in elderly symptomatic patients with drug-refractory obstructive hypertrophic cardiomyopathy is still to be confirmed. The objective of this study was to compare the efficacy and safety of ASA in patients under and over 65 years old. METHODS AND RESULTS: Fifty-one consecutive patients with obstructive hypertrophic cardio-myopathy who underwent ASA were retrospectively included and reviewed for in-hospital major acute cardiac events and follow-up...
2017: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/28421585/left-ventricular-non-compaction-associated-with-hypertrophic-cardiomyopathy-in-the-same-patient
#10
Lobna Laaroussi, Afef Ben Halima, Marouane Boukhris, Faouzi Addad, Salem Kachboura
No abstract text is available yet for this article.
2017: Kardiologia Polska
https://www.readbyqxmd.com/read/28421174/utility-of-cardiovascular-magnetic-resonance-derived-wave-intensity-analysis-as-a-marker-of-ventricular-function-in-children-with-heart-failure-and-normal-ejection-fraction
#11
Hopewell N Ntsinjana, Robin Chung, Paolo Ciliberti, Vivek Muthurangu, Silvia Schievano, Jan Marek, Kim H Parker, Andrew M Taylor, Giovanni Biglino
OBJECTIVE: This study sought to explore the diagnostic insight of cardiovascular magnetic resonance (CMR)-derived wave intensity analysis to better study systolic dysfunction in young patients with chronic diastolic dysfunction and preserved ejection fraction (EF), comparing it against other echocardiographic and CMR parameters. BACKGROUND: Evaluating systolic and diastolic dysfunctions in children is challenging, and a gold standard method is currently lacking...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28420666/prevalence-and-clinical-implication-of-double-mutations-in-hypertrophic-cardiomyopathy-revisiting-the-gene-dose-effect
#12
Dana Fourey, Melanie Care, Katherine A Siminovitch, Adaya Weissler-Snir, Waseem Hindieh, Raymond H Chan, Michael H Gollob, Harry Rakowski, Arnon Adler
BACKGROUND: Available data suggests that double mutations in patients with hypertrophic cardiomyopathy are not rare and are associated with a more severe phenotype. Most of this data, however, is based on noncontemporary variant classification. METHODS AND RESULTS: Clinical data of all hypertrophic cardiomyopathy patients with 2 rare genetic variants were retrospectively reviewed and compared with a group of patients with a single disease-causing variant. Furthermore, a literature search was performed for all studies with information on prevalence and outcome of patients with double mutations...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28418355/-morphometric-features-of-cardiomyocytes-in-the-ventricular-septum-of-patients-with-hypertrophic-cardiomyopathy
#13
I F Egorova, R A Serov, L A Bockeria
AIM: to determine the diameter and length of cardiomyocytes (CMC) in the ventricular septum (VS) of patients with hypertrophic cardiomyopathy (HCM) and to analyze correlations of a change in CMC sizes with the anatomical features of the heart in the patients. MATERIAL AND METHODS: Longitudinal sections of intraoperative myocardial biopsy specimens taken from 23 patients aged 15-59 years with HCM were treated using immunohistochemical detection of connexin 43; the sizes of 50 CMCs were measured; a 4-point scale was used to assess the degree of myofibril loss (MFL) in these cells...
2017: Arkhiv Patologii
https://www.readbyqxmd.com/read/28413114/left-atrial-appendage-thrombi-relate-to-easily-accessible-clinical-parameters-in-patients-undergoing-atrial-fibrillation-transcatheter-ablation-a-multicenter-study
#14
Matteo Anselmino, Lucia Garberoglio, Sebastiano Gili, Emanuele Bertaglia, Giuseppe Stabile, Raffaella Marazzi, Sakis Themistoclakis, Franceso Solimene, Simone Frea, Walter Grosso Marra, Mara Morello, Marco Scaglione, Roberto De Ponti, Fiorenzo Gaita
BACKGROUND: Transesophageal echocardiography (TEE) is routinely performed before atrial fibrillation (AF) transcatheter ablation to exclude the presence of left atrial (LA) or LA appendage (LAA) thrombi. The aim of the study is to evaluate if easily accessible clinical parameters may relate to the presence of LA or LAA thrombi to identify patients who could potentially avoid TEE. METHODS AND RESULTS: Between January 2012 and September 2014, data from 1539 consecutive patients undergoing TEE, as a work-up before AF transcatheter ablation, in six large volume centers were collected...
April 8, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28410142/theranostic-biomarkers-in-hypertrophic-cardiomyopathy-insights-in-a-long-road-ahead
#15
Carmem L Sartorio, Davide Lazzeroni, Gloria Bertoli, Paolo G Camici
The study of biomarkers and their related signalling pathways has allowed the development of new therapeutic strategies in a range of disorders. However, in hypertrophic cardiomyopathy (HCM), which is the most common hereditary cardiac disease, there are many potential biomarkers described, but their specificity and applicability for HCM remains an open field. The aim of the present review is to provide an overview of molecules that could give some insight into the pathophysiologic mechanisms underlying HCM, especially to those with "theranostic" - a combination of diagnostics and therapy - potential...
June 1, 2017: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28409012/enhancing-the-diagnosis-of-fabry-disease-in-cardiology-with-a-targeted-information-a-before-after-control-impact-study
#16
Anne-Louise Savary, Remy Morello, Carole Brasse-Lagnel, Paul Milliez, Soumeya Bekri, Fabien Labombarda
BACKGROUND: Cardiac complications in Fabry disease are frequent and dominated by a high frequency of left ventricular hypertrophy; therefore, cardiologists may have an essential role in screening for this disease. Providing cardiologists with targeted information on Fabry disease would be valuable and could reduce both diagnostic and therapeutic delays. The aim of this study was to evaluate the efficiency of such strategy for Fabry screening. METHODS: We conducted a before-after control-impact study by comparing observations made before and after targeted information on Fabry disease among cardiologists...
2017: Open Heart
https://www.readbyqxmd.com/read/28409011/utility-of-t-wave-amplitude-as-a-non-invasive-risk-marker-of-sudden-cardiac-death-in-hypertrophic-cardiomyopathy
#17
Alan Sugrue, Ammar M Killu, Christopher V DeSimone, Anwar A Chahal, Josh C Vogt, Vaclav Kremen, JoJo Hai, David O Hodge, Nancy G Acker, Jeffrey B Geske, Michael J Ackerman, Steve R Ommen, Grace Lin, Peter A Noseworthy, Peter A Brady
OBJECTIVE: Sudden cardiac arrest (SCA) is the most devastating outcome in hypertrophic cardiomyopathy (HCM). We evaluated repolarisation features on the surface electrocardiogram (ECG) to identify the potential risk factors for SCA. METHODS: Data was collected from 52 patients with HCM who underwent implantable cardioverter defibrillator (ICD) implantation. Leads V2 and V5 from the ECG closest to the time of ICD implant were utilised for measuring the Tpeak-Tend interval (Tpe), QTc, Tpe/QTc, T-wave duration and T-wave amplitude...
2017: Open Heart
https://www.readbyqxmd.com/read/28408782/assessment-of-regional-left-ventricular-systolic-function-by-strain-imaging-echocardiography-in-phenotypically-normal-and-abnormal-maine-coon-cats-tested-for-the-a31p-mutation-in-the-mybpc3-gene
#18
Arine Pellegrino, Alexandre G T Daniel, Guilherme G Pereira, Paula H Itikawa, Maria Helena M A Larsson
Myocardial dysfunction occurs in cats with hypertrophic cardiomyopathy (HCM), but little is known about the early stages of the disease. Strain imaging echocardiography is a method that enables the quantitative assessment of myocardial function and deformity, allowing the characterization of systolic dysfunction. The objective of this study was to assess systolic function using strain imaging echocardiography in Maine coon cats genetically tested for the A31P mutation in the MYBPC3 gene, with and without ventricular hypertrophy...
April 2017: Canadian Journal of Veterinary Research, Revue Canadienne de Recherche Vétérinaire
https://www.readbyqxmd.com/read/28408708/nonfamilial-hypertrophic-cardiomyopathy-prevalence-natural-history-and-clinical-implications
#19
Jodie Ingles, Charlotte Burns, Richard D Bagnall, Lien Lam, Laura Yeates, Tanya Sarina, Rajesh Puranik, Tom Briffa, John J Atherton, Tim Driscoll, Christopher Semsarian
BACKGROUND: Yield of causative variants in hypertrophic cardiomyopathy (HCM) is increased in some probands, suggesting different clinical subgroups of disease occur. We hypothesized that a negative family history and no sarcomere mutations represent a nonfamilial subgroup of HCM. We sought to determine the prevalence, natural history, and potential clinical implications of this nonfamilial subgroup of HCM. METHODS AND RESULTS: Four hundred and thirteen unrelated probands with HCM seen in a specialized HCM center between 2002 and 2015 and genetic testing performed were included in this retrospective cohort study...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28408651/disease-severity-and-exercise-testing-reduce-subcutaneous-implantable-cardioverter-defibrillator-left-sternal-ecg-screening-success-in-hypertrophic-cardiomyopathy
#20
Neil T Srinivasan, Kiran H Patel, Kashif Qamar, Amy Taylor, Marco Bacà, Rui Providência, Maria Tome-Esteban, Perry M Elliott, Pier D Lambiase
BACKGROUND: The features of the hypertrophic cardiomyopathy (HCM) ECG make it a challenge for subcutaneous implantable cardioverter-defibrillator (S-ICD) screening. We aimed to investigate the causes of screening failure at rest and on exercise to inform optimal S-ICD ECG vector development. METHODS AND RESULTS: One hundred and thirty-one HCM patients (age, 50±16 years; 92 males and 39 females) with ≥1 HCM risk factor for sudden death underwent S-ICD ECG screening at rest and on exercise...
April 2017: Circulation. Arrhythmia and Electrophysiology
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