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Alexis V Mickelson, Sampath K Gollapudi, Murali Chandra
The present study investigated the functional consequences of the human hypertrophic cardiomyopathy (HCM) mutation, A28V, in cardiac troponin T (TnT). The A28V mutation is located within the N-terminus of TnT, a region known to be important for full activation of cardiac thin filaments. The functional consequences of the A28V mutation in TnT remain unknown. Given how α- and β-myosin heavy chain (MHC) isoforms differently alter the effect of the N-terminus of TnT, we hypothesized that the A28V-induced effects would be differently modulated by α- and β-MHC isoforms...
October 21, 2016: American Journal of Physiology. Heart and Circulatory Physiology
Nadia A Akawi, Salma Ben-Salem, Jozef Hertecant, Anne John, Thachillath Pramathan, Praseetha Kizhakkedath, Bassam R Ali, Lihadh Al-Gazali
BACKGROUND: The group of ELAC2-related encephalomyopathies is a recent addition to the rapidly growing heterogeneous mitochondrial disorders. RESULTS: We describe a highly inbred consanguineous Pakistani family with multiple affected children in 2 branches exhibiting moderately severe global developmental delay. Using homozygosity mapping, we mapped the phenotype in this family to a single locus on chromosome 17. In addition, whole-exome sequencing identified a homozygous splicing mutation (c...
October 21, 2016: Orphanet Journal of Rare Diseases
Aindrila Chatterjee, Janine Seyfferth, Jacopo Lucci, Ralf Gilsbach, Sebastian Preissl, Lena Böttinger, Christoph U Mårtensson, Amol Panhale, Thomas Stehle, Oliver Kretz, Abdullah H Sahyoun, Sergiy Avilov, Stefan Eimer, Lutz Hein, Nikolaus Pfanner, Thomas Becker, Asifa Akhtar
A functional crosstalk between epigenetic regulators and metabolic control could provide a mechanism to adapt cellular responses to environmental cues. We report that the well-known nuclear MYST family acetyl transferase MOF and a subset of its non-specific lethal complex partners reside in mitochondria. MOF regulates oxidative phosphorylation by controlling expression of respiratory genes from both nuclear and mtDNA in aerobically respiring cells. MOF binds mtDNA, and this binding is dependent on KANSL3. The mitochondrial pool of MOF, but not a catalytically deficient mutant, rescues respiratory and mtDNA transcriptional defects triggered by the absence of MOF...
October 20, 2016: Cell
Irfan Sahin, Baris Gungor, Berk Ozkaynak, Fatih Uzun, Suat Hayri Küçük, Ilhan Iker Avci, Ender Ozal, Burak Ayça, Sukru Cetın, Ertugrul Okuyan, Mustafa Hakan Dinckal
BACKGROUND: Correlation of increased copeptin levels with various cardiovascular diseases has been described. The clinical use of copeptin levels in patients with hypertrophic cardiomyopathy (HCM) has not been investigated before. HYPOTHESIS: In this study, we aimed to investigate the prognostic value of copeptin levels in patients with hypertrophic cardiomyopathy (HCM). METHODS: HCM was defined as presence of left ventricular wall thickness ≥15 mm in a subject without any concomitant disease that may cause left ventricular hypertrophy...
October 21, 2016: Clinical Cardiology
Philipp Leinen, Matthew F B Green, Taner Esat, Christian Wagner, F Stefan Tautz, Ruslan Temirov
Considering organic molecules as the functional building blocks of future nanoscale technology, the question of how to arrange and assemble such building blocks in a bottom-up approach is still open. The scanning probe microscope (SPM) could be a tool of choice; however, SPM-based manipulation was until recently limited to two dimensions (2D). Binding the SPM tip to a molecule at a well-defined position opens an opportunity of controlled manipulation in 3D space. Unfortunately, 3D manipulation is largely incompatible with the typical 2D-paradigm of viewing and generating SPM data on a computer...
October 2, 2016: Journal of Visualized Experiments: JoVE
Yasuo Amano, Fumi Yanagisawa, Masaki Tachi, Hidenobu Hashimoto, Shogo Imai, Shinichiro Kumita
OBJECTIVE: The aim of this study was to evaluate the usefulness of T2 mapping for detecting myocardial injuries in patients with hypertrophic cardiomyopathy (HCM). METHODS: Twenty-one HCM patients and 7 healthy volunteers were examined. The T2 values were measured at hyperintense areas (high-T2 areas) identified with T2 mapping, at late gadolinium enhancement (LGE) areas, and in nullified myocardium of the HCM patients. The associations between T2 values and laboratory data or LGE areas were assessed...
October 19, 2016: Journal of Computer Assisted Tomography
Christopher Semsarian, Jodie Ingles
Sudden cardiac death (SCD) is a rare but devastating complication of a number of underlying cardiovascular diseases. While coronary artery disease and acute myocardial infarction are the most common causes of SCD in older populations, inherited cardiac disorders comprise a substantial proportion of SCD cases aged less than 40 years. Inherited cardiac disorders include primary inherited arrhythmogenic disorders such as familial long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and inherited cardiomyopathies, most commonly hypertrophic cardiomyopathy (HCM)...
October 2016: Journal of Arrhythmia
Thomas A Masters, John Kendrick-Jones, Folma Buss
Myosins are cytoskeletal motor proteins that use energy derived from ATP hydrolysis to generate force and movement along actin filaments. Humans express 38 myosin genes belonging to 12 classes that participate in a diverse range of crucial activities, including muscle contraction, intracellular trafficking, cell division, motility, actin cytoskeletal organisation and cell signalling. Myosin malfunction has been implicated a variety of disorders including deafness, hypertrophic cardiomyopathy, Usher syndrome, Griscelli syndrome and cancer...
October 19, 2016: Handbook of Experimental Pharmacology
Kazunori Okada, Sanae Kaga, Taisei Mikami, Nobuo Masauzi, Ayumu Abe, Masahiro Nakabachi, Shinobu Yokoyama, Hisao Nishino, Ayako Ichikawa, Mutsumi Nishida, Daisuke Murai, Taichi Hayashi, Chikara Shimizu, Hiroyuki Iwano, Satoshi Yamada, Hiroyuki Tsutsui
We analyzed the waveform of systolic strain and strain-rate curves to find a characteristic left ventricular (LV) myocardial contraction pattern in patients with hypertrophic cardiomyopathy (HCM), and evaluated the utility of these parameters for the differentiation of HCM and LV hypertrophy secondary to hypertension (HT). From global strain and strain-rate curves in the longitudinal and circumferential directions, the time from mitral valve closure to the peak strains (T-LS and T-CS, respectively) and the peak systolic strain rates (T-LSSR and T-CSSR, respectively) were measured in 34 patients with HCM, 30 patients with HT, and 25 control subjects...
October 18, 2016: Heart and Vessels
Hemant Chaturvedi, Rudra Dev Pandey, Krishna Kumar Sharma, Jitendra Singh Makkar, Sanjeev K Sharma
We present a patient with asymptomatic apical hypertrophic cardiomyopathy (AHCM) who recently developed cardiac arrhythmias, and shortly discuss the diagnostic modalities, differential diagnosis, and treatment strategy for this condition. AHCM is a rare form of hypertrophic cardiomyopathy, which usually involves the apex of the left ventricle. AHCM can occur with varied presentations such as chest pain, palpitations, dyspnea, syncope, atrial fibrillation, myocardial infarction, embolic events, ventricular fibrillation, and congestive heart failure...
September 2016: Indian Heart Journal
Thomas Sené, Olivier Lidove, Joel Sebbah, Jean-Marc Darondel, Hervé Picard, Laurent Aaron, Olivier Fain, Thierry Zenone, Dominique Joly, Philippe Charron, Jean-Marc Ziza
The incidence and predictive factors of arrhythmias and/or conduction abnormalities (ACAs) requiring cardiac device (CD) implantation are poorly characterized in Fabry disease (FD). The aim of our retrospective study was to determine the prevalence, incidence, and factors associated with ACA requiring CD implantation in a monocentric cohort of patients with confirmed FD who were followed up in a department of internal medicine and reference center for FD.Forty-nine patients (20M, 29F) were included. Nine patients (4M, 5F; 18%) had at least one episode of ACA leading to device therapy...
October 2016: Medicine (Baltimore)
Yin-Jian Yang, Chao-Mei Fan, Jin-Qing Yuan, Hai-Bin Zhang, Fu-Jian Duan, Zhi-Min Wang, Xi-Ying Guo, Shan-Shan Zhai, Shuo-Yan An, Fei Hang, Yi-Shi Li
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is associated with poor prognosis. It has been reported that there is no difference in in-hospital mortality after acute myocardial infarction (AMI) between patients with and without HCM. However, whether there is a difference in long-term survival after AMI between patients with and without HCM remains unclear. HYPOTHESIS: Long-term survival after AMI is worse in patients with vs without HCM. METHODS: The clinical profiles of 91 consecutive patients with HCM and AMI (HCM group) and 91 sex- and age-matched patients with AMI without HCM (non-HCM group) were analyzed...
October 17, 2016: Clinical Cardiology
Dung VAN Nguyen, Junko Suzuki, Shohei Minami, Kenzo Yonemitsu, Nao Nagata, Ryusei Kuwata, Hiroshi Shimoda, Chien Kim Vu, Thuy Quoc Truong, Ken Maeda
Canine distemper virus (CDV) is one of the most serious pathogens found in many species of carnivores, including domestic dogs. In this study, hemagglutinin (H) genes were detected in five domestic Vietnamese dogs with diarrhea, and two CDVs were successfully isolated from dogs positive for H genes. The complete genome of one isolate, CDV/dog/HCM/33/140816, was determined. Phylogenetic analysis showed that all Vietnamese CDVs belonged to the Asia-1 genotype. In addition, the H proteins of Vietnamese CDV strains were the most homologous to those of Chinese CDVs (98...
October 14, 2016: Journal of Veterinary Medical Science
Barry J Maron, Ethan J Rowin, Martin S Maron, Eugene Braunwald
Hypertrophic cardiomyopathy was first recognized as a disease of obstruction to left ventricular outflow, hence its early names and acronyms such as idiopathic hypertrophic subaortic obstruction. The nonobstructive subset of patients, incapable of developing mechanical impedance to left ventricular outflow at rest or with physiologic exercise, was initially recognized by the Braunwald group at the National Institutes of Health >50 years ago in the pre-imaging era and is now recognized as comprising about one-third of hypertrophic cardiomyopathy patients...
October 13, 2016: American Journal of Medicine
Yoshifumi Itoda, Kan Nawata, Haruo Yamauchi, Osamu Kinoshita, Mitsutoshi Kimura, Minoru Ono
Aortic insufficiency (AI) is a significant complication of long-term support of continuous flow left ventricular assist device (CF-LVAD) for patients with end-stage heart failure. A 26-year-old female with osteogenesis imperfecta (OI) was diagnosed with dilated phase hypertrophic cardiomyopathy (d-HCM)) and was implanted with Jarvik 2000, for bridge to transplantation. AI gradually developed and surgical intervention was indicated. We performed central aortic valve closure (CAVC) instead of valve replacement 20 months after CF-LVAD implantation...
October 15, 2016: Journal of Artificial Organs: the Official Journal of the Japanese Society for Artificial Organs
Yasuchika Takeishi, Atsuro Masuda, Hitoshi Kubo, Hideyuki Tominaga, Noboru Oriuchi, Seiichi Takenoshita
No abstract text is available yet for this article.
October 14, 2016: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
Johannes T Kowallick, Miguel Silva Vieira, Shelby Kutty, Joachim Lotz, Gerd Hasenfu, Amedeo Chiribiri, Andreas Schuster
OBJECTIVES: Hypertrophic cardiomyopathy (HCM) is associated with left atrial (LA) functional abnormalities. The determinants and the degree of LA dysfunction in the course of HCM are not fully understood. We aimed to characterize LA mechanics in HCM, according to the extent of left ventricular (LV) hypertrophy and fibrosis. METHODS AND RESULTS: Seventy-three HCM patients and 23 age- and sex-matched controls underwent cardiovascular magnetic resonance imaging including late gadolinium enhancement (LGE)...
October 12, 2016: Investigative Radiology
Santosh Kumar Sinha, Shalini Garg, Ramesh Thakur, Vinay Krishna, Karandeep Singh, Mohit Sachan, Amit Goel, Mahamdula Razi, Umeshwar Pandey, Chandra Mohan Varma
BACKGROUND: The optimal timing of surgery in patients with chronic organic severe mitral regurgitation (MR) continues to be debated, especially for those who are asymptomatic. The aim of the study was to determine independent and additive prognostic value of exercise brain natriuretic peptide (eBNP) in patients with severe asymptomatic MR and normal left ventricular ejection fraction (LVEF). METHODS: Two hundred twenty-three consecutive patients with severe MR defined by effective regurgitant orifice (ERO) area ≥ 40 mm(2) and/or residual volume ≥ 60 mL, LVEF > 60%, and normal LV end-systolic diameter < 40 mm underwent symptom limited exercise treadmill test (TMT)...
November 2016: Journal of Clinical Medicine Research
Theresia Kraft, Judith Montag, Ante Radocaj, Bernhard Brenner
No abstract text is available yet for this article.
October 14, 2016: Circulation Research
Ana Rita Francisco, Inês Gonçalves, Fátima Veiga, Mónica Mendes Pedro, Fausto J Pinto, Dulce Brito
Severe hypertriglyceridemia has been consistently associated with an increased risk of cardiovascular disease and other complications, namely acute pancreatitis. We report a case of a 64 year-old woman with hypertrophic cardiomyopathy and metabolic syndrome with triglyceride level of 3260 mg/dL. Plasma exchange was performed with simultaneous medical treatment to achieve a rapid and effective lowering of triglycerides in order to prevent clinical complications. After three plasmapheresis sessions a marked reduction in triglyceride and total cholesterol levels was observed...
July 2016: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
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