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https://www.readbyqxmd.com/read/29791652/inflammatory-myopathy-in-the-context-of-an-unusual-overlapping-laminopathy
#1
Cristina Guillín-Amarelle, Sofía Sánchez-Iglesias, Antonio Mera, Elena Pintos, Ana Castro-Pais, Leticia Rodríguez-Cañete, Julio Pardo, Felipe F Casanueva, David Araújo-Vilar
Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial lipodystrophy [FPLD2]), muscle (type 2 Emery-Dreifuss muscular dystrophy [EDMD2], type 1B limb-girdle muscular dystrophy [LGMD1B], and dilated cardiomyopathy), nerves (type 2B1 Charcot-Marie-Tooth disease), and premature aging syndromes. Moreover, overlapping syndromes have been reported...
May 17, 2018: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29791317/romanian-registry-of-hypertrophic-cardiomyopathy-overview-of-general-characteristics-and-therapeutic-choices-at-a-national-level
#2
Paula Ionilă, Ruxandra Jurcuţ, Nicoleta Ferariu, Monica Roşca, Monica Chivulescu, Adriana Mursă, Sebastian Militaru, Alin A Ionescu, Cristina Căldăraru, Ana G Fruntelată, Silvia F Goanţă, Simina Crișan, Adina Ionac, Ana-Maria Avram, Attila Frigy, Radu Sascãu, Cãtãlina Arsenescu-Georgescu, Ioan M Coman, Bogdan A Popescu, Carmen Ginghină, Eduard Apetrei
Hypertrophic cardiomyopathy (HCM) is a disease with increased LV wall thickness not solely explained by abnormal loading conditions, with great heterogeneity regarding clinical expression and prognosis. The aim of the present study was to collect data on HCM patients from different centres across the country, in order to assess the general characteristics and therapeutic choices in this population.
May 1, 2018: Romanian Journal of Internal Medicine, Revue Roumaine de Médecine Interne
https://www.readbyqxmd.com/read/29786883/left-ventricular-aneurysms-in-hypertrophic-cardiomyopathy-with-midventricular-obstruction-a-systematic-review-of-literature
#3
Moustafa O Elsheshtawy, Ahmed N Mahmoud, Mahmoud Abdelghany, Ida H Suen, Adnan Sadiq, Jacob Shani
BACKGROUND: Hypertrophic cardiomyopathy (HCM) with or without left ventricular apical aneurysm (LVA) had been studied in the past. Midventricular obstruction associated with HCM and LVA is a unique entity that has not been distinguished previously as a separate phenotypic disease in HCM patients. METHODS: A systematic review of Pubmed and Google Scholar was conducted from inception until September 2017 for all observational studies conducted on HCM with midventricular obstruction and LVA...
May 22, 2018: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/29786598/-hypertrophic-cardiomyopathy-an-intraoperative-death-case-analysis-and-substantiation-of-the-standards-of-perioperative-anesthetic-management-in-a-non-cardiosurgery-clinic
#4
Roman N Fedosiuk, Liliia O Shchupachynska
The article is based on the case analysis of a sudden and unexpected intraoperative death of a 51-year-old female patient with hypertrophic cardiomyopathy, who was undergoing a non-cardiac operation in a non-cardiosurgery clinic, from acute precipitation of left ventricular outflow tract obstruction provoked by surgery and anesthesia. It emphasizes the importance of raising non-cardiac anesthesiologists' awareness of the issue and having clear standards of pre-operative evaluation and perioperative management of patients with hypertrophic cardiomyopathy in order to avoid fatal medical errors...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29784492/electrocardiogram-and-imaging-an-integrated-approach-to-arrhythmogenic-cardiomyopathies
#5
REVIEW
Ketty Savino, Giuseppe Bagliani, Federico Crusco, Margherita Padeletti, Massimo Lombardi
Cardiovascular imaging has radically changed the management of patients with arrhythmogenic cardiomyopathies. This article focuses on the role of echocardiography and MRI in the diagnosis of these structural diseases. Cardiomyopathies with hypertrophic pattern (hypertrophic cardiomyopathy, restrictive cardiomyopathies, amyloidosis, Anderson-Fabry disease, and sarcoidosis), cardiomyopathies with dilated pattern, inflammatory cardiac diseases, and right ventricular arrhythmogenic cardiomyopathy are analyzed. Finally, anatomic predictors of arrhythmias and sudden cardiac death are discussed...
June 2018: Cardiac Electrophysiology Clinics
https://www.readbyqxmd.com/read/29782639/sudden-cardiac-death-in-athletes-and-the-value-of-cardiovascular-magnetic-resonance
#6
REVIEW
Sophie I Mavrogeni, Flora Bacopoulou, Despoina Apostolaki, George P Chrousos
Sudden cardiac death (SCD) is the non-traumatic death, due to loss of heart function that occurs suddenly and unexpectedly within 6 hours of a previously normal state of health. It is related to intense competitive sports promoting ventricular tachycardia (VT)/ventricular fibrillation (VF) in the presence of underlying abnormal substrate. A serial evaluation of cardiac physiologic changes taking place during training will allow the better understanding of athlete's heart and will facilitate its discrimination from other gray-zone cardiomyopathies...
May 21, 2018: European Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29776992/cardiomyopathy-mutation-f88l-in-troponin-t-abolishes-length-dependency-of-myofilament-ca-2-sensitivity
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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/29764897/diagnostic-yield-of-genetic-testing-in-young-athletes-with-t-wave-inversion
#13
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
#14
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/29761339/-syncope-in-hypertrophic-obstructive-cardiomyopathy
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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