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Hypertrophic cardiomyopathies

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https://www.readbyqxmd.com/read/29777670/the-impact-of-mitral-disease-etiology-on-operative-mortality-following-mitral-valve-operations
#1
J Scott Rankin, Maria Grau-Sepulveda, David M Shahian, A Marc Gillinov, Rakesh Suri, James S Gammie, Steven F Bolling, Patrick M McCarthy, Vinod H Thourani, Niv Ad, Sean M O'Brien, Jeffrey P Jacobs, Vinay Badhwar
BACKGROUND: The patho-etiology of mitral regurgitation (MR) has been suggested as a mediator of outcomes following mitral valve (MV) operations, particularly in ischemic functional mitral regurgitation (IMR). This study examined the independent association of MV etiology with mortality. METHODS: Using the Society of Thoracic Surgeons Database, all patients undergoing mitral valve replacement or repair from 2011-2014 were assessed. Patients who underwent concomitant surgical ablation, septal defect closure, tricuspid valve repair, or coronary artery bypass grafting were included...
May 16, 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29776992/cardiomyopathy-mutation-f88l-in-troponin-t-abolishes-length-dependency-of-myofilament-ca-2-sensitivity
#2
Sherif M Reda, Murali Chandra
Recent clinical studies have revealed a new hypertrophic cardiomyopathy-associated mutation (F87L) in the central region of human cardiac troponin T (TnT). However, despite its implication in several incidences of sudden cardiac death in young and old adults, whether F87L is associated with cardiac contractile dysfunction is unknown. Because the central region of TnT is important for modulating the muscle length-mediated recruitment of new force-bearing cross-bridges (XBs), we hypothesize that the F87L mutation causes molecular changes that are linked to the length-dependent activation of cardiac myofilaments...
May 18, 2018: Journal of General Physiology
https://www.readbyqxmd.com/read/29776856/mitral-repair-as-a-treatment-of-outflow-tract-obstruction-in-hypertrophic-cardiomyopathy-myectomy-without-myectomy
#3
Nicolás M Maneiro-Melón, Miguel González-Barbeito, Francisco Estévez-Cid, Jesús Peteiro-Vázquez, José J Cuenca-Castillo, Roberto Barriales-Villa
No abstract text is available yet for this article.
May 15, 2018: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29775428/the-involvement-of-human-monogenic-cardiomyopathy-genes-in-experimental-polygenic-cardiac-hypertrophy
#4
Priscilla R Prestes, Francine Z Marques, Guillermo Lopez-Campos, Paul Lewandowski, Lea M D Delbridge, Fadi J Charchar, Stephen B Harrap
Hypertrophic cardiomyopathy thickens heart muscles reducing functionality and increasing risk of cardiac disease and morbidity. Genetic factors are involved, but their contribution is poorly understood. We used the hypertrophic heart rat (HHR), a unique normotensive polygenic model of cardiac hypertrophy and heart failure to investigate the role of genes associated with monogenic human cardiomyopathy. We selected 42 genes involved in monogenic human cardiomyopathies to study: 1) DNA variants, by sequencing the whole-genome of 13-week old HHR and age-matched normal heart rat (NHR), its genetic control strain; 2) mRNA expression, by targeted RNA-sequencing in left ventricles of HHR and NHR at five ages (2-days old, 4-, 13-, 33- and 50-weeks old) compared to human idiopathic dilated data; and 3) microRNA expression, with rat microRNA microarrays in left ventricles of 2-days old HHR and age-matched NHR...
May 18, 2018: Physiological Genomics
https://www.readbyqxmd.com/read/29774406/reduced-global-myocardial-perfusion-reserve-in-dcm-and-hcm-patients-assessed-by-cmr-based-velocity-encoded-coronary-sinus-flow-measurements-and-first-pass-perfusion-imaging
#5
Michael Bietenbeck, Anca Florian, Zornitsa Shomanova, Claudia Meier, Ali Yilmaz
BACKGROUND: Coronary microvascular dysfunction (CMD) is an independent predictor of poor prognosis in patients suffering from dilative or hypertrophic cardiomyopathy (DCM/HCM). To assess CMD, quantitative myocardial first-pass perfusion (1P) cardiovascular magnetic resonance (CMR) can be performed. Coronary sinus flow (CSF) measurements at rest and during maximal vasodilatation are an alternative and well-validated approach for the quantification of global myocardial blood flow (MBF) in CMR...
May 17, 2018: Clinical Research in Cardiology: Official Journal of the German Cardiac Society
https://www.readbyqxmd.com/read/29768383/treatable-massive-pericardial-effusion-and-hypertrophic-cardiomyopathy-in-an-infant-with-a-novel-homozygous-acadvl-mutation-a-case-report
#6
Yoo-Mi Kim, Geena Kim, Hoon Ko, Han-Wook Yoo, Hyoung Doo Lee
RATIONALE: Infantile-onset hypertrophic cardiomyopathy (HCMP) should be considered a largely genetic condition, although its onset is most often triggered by infection. Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare autosomal recessive inborn error of mitochondrial fatty acid β-oxidation that often causes severe cardiomyopathy and/or sudden death during the neonatal period. PATIENT CONCERNS: Herein, we report an infant with VLCAD deficiency who presented with severe cardiac manifestations, including massive pericardial effusion and HCMP...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29768159/-hypertrophic-cardiomyopathy-and-ischemic-heart-disease-the-problem-of-pathology-combination
#7
E A Kovalevskaya, N S Krylova, N G Poteshkina
Hypertrophic cardiomyopathy (HCM) is a disease with left ventricular hypertrophy caused by mutations in the genes of myocardial contractile proteins, whose frequency is about 0.5 %. Due to the high incidence of anginal pain and marked changes in ECG with HCM, the problem of diagnosing the combination of HCM and coronary artery disease (CAD) presents a rather difficult task for the clinician. The complexity of this diagnosis is due to the ability of standard methods of instrumental examination (ECG, a test with physical activity, stress tests in conjunction with visualization of the myocardium) to detect myocardial ischemia in both СAD and HCM...
2018: Kardiologiia
https://www.readbyqxmd.com/read/29765615/prognostic-significance-of-repeated-brain-natriuretic-peptide-measurements-after-percutaneous-transluminal-septal-myocardial-ablation-in-patients-with-drug-refractory-hypertrophic-obstructive-cardiomyopathy
#8
Keitaro Akita, Hikaru Tsuruta, Shinsuke Yuasa, Mitsushige Murata, Keiichi Fukuda, Yuichiro Maekawa
Objectives: To evaluate whether repeated brain natriuretic peptide (BNP) measurements after percutaneous transluminal septal myocardial ablation (PTSMA) provide prognostic information regarding the response to PTSMA in patients with drug-refractory hypertrophic obstructive cardiomyopathy (HOCM). Background: Plasma BNP levels are associated with clinical outcomes in patients with HOCM. However, the prognostic value of plasma BNP level changes before and after PTSMA remains unclear...
2018: Open Heart
https://www.readbyqxmd.com/read/29764897/diagnostic-yield-of-genetic-testing-in-young-athletes-with-t-wave-inversion
#9
Nabeel Sheikh, Michael Papadakis, Mathew Wilson, Aneil Malhotra, Carmen Adamuz, Tessa Homfray, Lorenzo Monserrat, Elijah R Behr, Sanjay Sharma
Background -T-wave inversion (TWI) is common in patients with cardiomyopathy. However, up to 25% of athletes of African/Afro-Caribbean descent (black athletes) and 5% of white athletes also have TWI of unclear clinical significance despite comprehensive clinical evaluation and long-term follow-up. The aim of this study was to determine the diagnostic yield from genetic testing, beyond clinical evaluation, when investigating athletes with TWI. Methods -We investigated 50 consecutive asymptomatic black and 50 white athletes aged 14-35-years-old with TWI and a normal echocardiogram who were referred to a UK tertiary center for cardiomyopathy and sports cardiology...
May 15, 2018: Circulation
https://www.readbyqxmd.com/read/29764684/does-septal-myectomy-reduce-risk-of-sudden-cardiac-death-in-patients-with-hypertrophic-cardiomyopathy
#10
EDITORIAL
Hartzell V Schaff, Anita Nguyen
No abstract text is available yet for this article.
April 25, 2018: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29761889/a-novel-human-s10f-hsp20-mutation-induces-lethal-peripartum-cardiomyopathy
#11
Guan-Sheng Liu, George Gardner, George Adly, Min Jiang, Wen-Feng Cai, Chi Keung Lam, Fawzi Alogaili, Nathan Robbins, Jack Rubinstein, Evangelia G Kranias
Heat shock protein 20 (Hsp20) has been shown to be a critical regulator of cardiomyocyte survival upon cardiac stress. In this study, we investigated the functional significance of a novel human Hsp20 mutation (S10F) in peripartum cardiomyopathy. Previous findings showed that cardiac-specific overexpression of this mutant were associated with reduced autophagy, left ventricular dysfunction and early death in male mice. However, this study indicates that females have normal function with no alterations in autophagy but died within a week after 1-4 pregnancies...
May 15, 2018: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29761339/-syncope-in-hypertrophic-obstructive-cardiomyopathy
#12
REVIEW
Hubert Seggewiß, Angelika Koljaja-Batzner, Kornelia Seggewiß, Malte Meesmann
Hypertrophic cardiomyopathy is the most common genetic cardiac disease. The most important pathophysiological finding is dynamic (outflow tract) obstruction of the left ventricle in about 70% of affected patients. Especially in younger patients, an increased risk of sudden cardiac death has been observed. Syncope and presyncope-in addition to extremely variable cardiac symptoms (dyspnea and angina)-are common. The etiology of syncope is complex. The most important aspect for diagnosis is a detailed history regarding the accompanying circumstances of the syncope...
May 14, 2018: Herzschrittmachertherapie & Elektrophysiologie
https://www.readbyqxmd.com/read/29761309/is-there-a-role-for-cardiac-positron-emission-tomography-in-hypertrophic-cardiomyopathy
#13
Paco E Bravo
Coronary microvascular dysfunction and, its functional consequence, myocardial ischemia are common pathologic features in patients with hypertrophic cardiomyopathy (HCM). Both have been commonly invoked as potential triggers of and/or contributors to the underlying pathophysiological processes leading to heart failure, and malignant ventricular arrhythmias. Positron emission tomography (PET) with myocardial blood flow quantification provides a unique opportunity to evaluate the integrity and function of the coronary microcirculation in HCM...
May 14, 2018: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/29761308/can-positron-emission-tomography-help-stratify-the-risk-of-sudden-cardiac-death-in-patients-with-hypertrophic-cardiomyopathy
#14
EDITORIAL
G Neal Kay
No abstract text is available yet for this article.
May 14, 2018: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/29760186/hypertrophic-cardiomyopathy-mutations-increase-myofilament-ca-2-buffering-alter-intracellular-ca-2-handling-and-stimulate-ca-2-dependent-signalling
#15
Paul Robinson, Xing Liu, Alexander Sparrow, Suketu Patel, Yin Hua Zhang, Barbara Casadei, Hugh Watkins, Charles S Redwood
Mutations in thin filament regulatory proteins that cause hypertrophic cardiomyopathy (HCM) increase myofilament Ca2+ -sensitivity. Mouse models exhibit increased Ca2+ buffering and arrhythmias, and we hypothesized that these changes are primary effects of the mutations (independent of compensatory changes) and that increased Ca2+ - buffering and altered Ca2+ -handling contribute to HCM pathogenesis via activation of Ca2+ -dependent signalling. Here, we determined the primary effects of HCM mutations on intracellular Ca2+ -handling and Ca2+ -dependent signalling in a model system possessing Ca2+ -handling mechanisms and contractile protein isoforms close to human in the absence of potentially confounding remodeling...
May 14, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29759497/j-point-elevation-in-hypertrophic-cardiomyopathy-riding-a-new-wave-in-risk-stratification
#16
EDITORIAL
Martin S Maron
No abstract text is available yet for this article.
October 2017: JACC. Clinical Electrophysiology
https://www.readbyqxmd.com/read/29759496/j-waves-for-predicting-cardiac-events-in-hypertrophic-cardiomyopathy
#17
Toyonobu Tsuda, Kenshi Hayashi, Tetsuo Konno, Kenji Sakata, Takashi Fujita, Akihiko Hodatsu, Yoji Nagata, Ryota Teramoto, Akihiro Nomura, Yoshihiro Tanaka, Hiroshi Furusho, Masayuki Takamura, Masa-Aki Kawashiri, Noboru Fujino, Masakazu Yamagishi
OBJECTIVES: This study sought to investigate whether the presence of J waves was associated with cardiac events in patients with hypertrophic cardiomyopathy (HCM). BACKGROUND: It has been uncertain whether the presence of J waves predicts life-threatening cardiac events in patients with HCM. METHODS: This study evaluated consecutive 338 patients with HCM (207 men; age 61 ± 17 years of age). A J-wave was defined as J-point elevation >0...
October 2017: JACC. Clinical Electrophysiology
https://www.readbyqxmd.com/read/29754880/prognostic-value-of-mitral-annular-systolic-plane-excursion-and-tricuspid-annular-plane-systolic-excursion-in-cats-with-hypertrophic-cardiomyopathy
#18
Ilaria Spalla, Jessie Rosie Payne, Kieran Borgeat, Virginia Luis Fuentes, David John Connolly
INTRODUCTION: Hypertrophic cardiomyopathy (HCM) has a variable prognosis; left atrial size, presence of clinical signs and left ventricular systolic function have been shown to predict outcomes. Mitral annular plane systolic excursion (MAPSE) and tricuspid annular plane systolic excursion (TAPSE) assess longitudinal ventricular systolic function and are decreased in cats with HCM. The aim of the study was to ascertain whether MAPSE and TAPSE have prognostic value in HCM and if cats with pleural effusion have lower MAPSE and TAPSE than cats with pulmonary oedema...
May 10, 2018: Journal of Veterinary Cardiology: the Official Journal of the European Society of Veterinary Cardiology
https://www.readbyqxmd.com/read/29753999/vortical-features-for-myocardial-rotation-assessment-in-hypertrophic-cardiomyopathy-using-cardiac-tagged-magnetic-resonance
#19
Santiago Sanz-Estébanez, Lucilio Cordero-Grande, Teresa Sevilla, Ana Revilla-Orodea, Rodrigo de Luis-García, Marcos Martín-Fernández, Carlos Alberola-López
Left ventricular rotational motion is a feature of normal and diseased cardiac function. However, classical torsion and twist measures rely on the definition of a rotational axis which may not exist. This paper reviews global and local rotation descriptors of myocardial motion and introduces new curl-based (vortical) features built from tensorial magnitudes, intended to provide better comprehension about fibrotic tissue characteristics mechanical properties. Fifty-six cardiomyopathy patients and twenty-two healthy volunteers have been studied using tagged magnetic resonance by means of harmonic phase analysis...
March 15, 2018: Medical Image Analysis
https://www.readbyqxmd.com/read/29753818/routine-papillary-muscle-realignment-and-septal-myectomy-for-obstructive-hypertrophic-cardiomyopathy
#20
Howard K Song, Jason Turner, Rebekah Macfie, Suwen Kumar, Meghan J Mannello, Danielle Smith, Castigliano Bhamidipati, Jaishankar Raman, Frederick Tibayan, Stephen B Heitner
BACKGROUND: Septal myectomy has been the mainstay of the surgical treatment of obstructive hypertrophic cardiomyopathy (HCM), however recently there is growing appreciation for associated mitral valve abnormalities that contribute to left ventricular outflow tract (LVOT) obstruction. In this study, we describe our experience with combined papillary muscle realignment (PMR) and septal myectomy for the treatment of obstructive HCM. METHODS: We identified 44 patients undergoing surgery for obstructive HCM whose anatomy was amenable to combined PMR and septal myectomy at our institution over a 20-month period...
May 10, 2018: Annals of Thoracic Surgery
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