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Hypertrophic cardiomyopathies

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https://www.readbyqxmd.com/read/28723664/detecting-the-genetic-link-between-alzheimer-s-disease-and-obesity-using-bioinformatics-analysis-of-gwas-data
#1
Qi-Shuai Zhuang, Hao Zheng, Xiao-Dan Gu, Liang Shen, Hong-Fang Ji
Alzheimer's disease (AD) represents the major form of dementia in the elderly. In recent years, accumulating evidence indicate that obesity may act as a risk factor for AD, while the genetic link between the two conditions remains unclear. This bioinformatics analysis aimed to detect the genetic link between AD and obesity on single nucleotide polymorphisms (SNPs), gene, and pathway levels based on genome-wide association studies data. A total of 31 SNPs were found to be shared by AD and obesity, which were linked to 7 genes...
July 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28718693/effects-of-sedation-with-dexmedetomidine-and-buprenorphine-on-echocardiographic-variables-blood-pressure-and-heart-rate-in-healthy-cats
#2
Einar Johard, Anna Tidholm, Ingrid Ljungvall, Jens Häggström, Katja Höglund
Objectives Sedative agents are occasionally used to enable echocardiographic examination when screening cats for heart disease, such as hypertrophic cardiomyopathy (HCM). Owing to their haemodynamic effects, sedative agents may alter echocardiographic measurements. The aim of the study was to evaluate the effects of the sedative combination dexmedetomidine and buprenorphine on echocardiographic variables, blood pressure (BP) and heart rate (HR) in healthy cats. Methods Fifty healthy, client-owned cats were prospectively recruited and included after physical examination...
July 1, 2017: Journal of Feline Medicine and Surgery
https://www.readbyqxmd.com/read/28717924/hypertrophic-cardiomyopathy-and-the-myosin-mesa-viewing-an-old-disease-in-a-new-light
#3
REVIEW
Darshan V Trivedi, Arjun S Adhikari, Saswata S Sarkar, Kathleen M Ruppel, James A Spudich
The sarcomere is an exquisitely designed apparatus that is capable of generating force, which in the case of the heart results in the pumping of blood throughout the body. At the molecular level, an ATP-dependent interaction of myosin with actin drives the contraction and force generation of the sarcomere. Over the past six decades, work on muscle has yielded tremendous insights into the workings of the sarcomeric system. We now stand on the cusp where the acquired knowledge of how the sarcomere contracts and how that contraction is regulated can be extended to an understanding of the molecular mechanisms of sarcomeric diseases, such as hypertrophic cardiomyopathy (HCM)...
July 17, 2017: Biophysical Reviews
https://www.readbyqxmd.com/read/28717008/the-cardiac-z-disc-protein-cefip-regulates-cardiomyocyte-hypertrophy-by-modulating-calcineurin-signaling
#4
Franziska Dierck, Christian Kuhn, Claudia Rohr, Susanne Hille, Julia Braune, Samuel Sossalla, Sibylle Molt, Peter F M van der Ven, Dieter O Fürst, Norbert Frey
The z-disc is a structural component at the lateral borders of the sarcomere and is important for mechanical stability and contractility of both cardiac and skeletal muscles. Of note, the sarcomeric z-disc also represents a nodal point in cardiomyocyte function and signaling. Mutations of numerous z-disc proteins are associated with cardiomyopathies and muscle diseases. To identify additional z-disc proteins that might contribute to cardiac disease, we employed an in silico screen for cardiac-enriched cDNAs...
July 17, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28712726/sengers-syndrome-associated-mitochondrial-acylglycerol-kinase-is-a-subunit-of-the-human-tim22-protein-import-complex
#5
Yilin Kang, David A Stroud, Michael J Baker, David P De Souza, Ann E Frazier, Michael Liem, Dedreia Tull, Suresh Mathivanan, Malcolm J McConville, David R Thorburn, Michael T Ryan, Diana Stojanovski
Acylglycerol kinase (AGK) is a mitochondrial lipid kinase that catalyzes the phosphorylation of monoacylglycerol and diacylglycerol to lysophosphatidic acid and phosphatidic acid, respectively. Mutations in AGK cause Sengers syndrome, which is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Here we identified AGK as a subunit of the mitochondrial TIM22 protein import complex. We show that AGK functions in a kinase-independent manner to maintain the integrity of the TIM22 complex, where it facilitates the import and assembly of mitochondrial carrier proteins...
July 11, 2017: Molecular Cell
https://www.readbyqxmd.com/read/28712724/acylglycerol-kinase-mutated-in-sengers-syndrome-is-a-subunit-of-the-tim22-protein-translocase-in-mitochondria
#6
Milena Vukotic, Hendrik Nolte, Tim König, Shotaro Saita, Maria Ananjew, Marcus Krüger, Takashi Tatsuta, Thomas Langer
Mutations in mitochondrial acylglycerol kinase (AGK) cause Sengers syndrome, which is characterized by cataracts, hypertrophic cardiomyopathy, and skeletal myopathy. AGK generates phosphatidic acid and lysophosphatidic acid, bioactive phospholipids involved in lipid signaling and the regulation of tumor progression. However, the molecular mechanisms of the mitochondrial pathology remain enigmatic. Determining its mitochondrial interactome, we have identified AGK as a constituent of the TIM22 complex in the mitochondrial inner membrane...
July 8, 2017: Molecular Cell
https://www.readbyqxmd.com/read/28708715/relationship-of-nonseptal-late-gadolinium-enhancement-to-ventricular-tachyarrhythmia-in-hypertrophic-cardiomyopathy
#7
Yasuo Amano, Fumi Yanagisawa, Mitsunobu Kitamura, Masaki Tachi, Shinichiro Kumita
OBJECTIVE: This study aimed to determine the relationship between the extent and the location of late gadolinium enhancement (LGE) and ventricular tachyarrhythmia or implantable cardioverter defibrillator (ICD) in hypertrophic cardiomyopathy (HCM). METHODS: We enrolled 115 patients with HCM and LGE. The location of LGE was divided into septal and nonseptal segments. Clinical backgrounds and LGE were compared in patients between with and without the arrhythmia or consequent ICD installation...
July 13, 2017: Journal of Computer Assisted Tomography
https://www.readbyqxmd.com/read/28706583/cardiac-damage-in-athlete-s-heart-when-the-supernormal-heart-fails
#8
REVIEW
Andreina Carbone, Antonello D'Andrea, Lucia Riegler, Raffaella Scarafile, Enrica Pezzullo, Francesca Martone, Raffaella America, Biagio Liccardo, Maurizio Galderisi, Eduardo Bossone, Raffaele Calabrò
Intense exercise may cause heart remodeling to compensate increases in blood pressure or volume by increasing muscle mass. Cardiac changes do not involve only the left ventricle, but all heart chambers. Physiological cardiac modeling in athletes is associated with normal or enhanced cardiac function, but recent studies have documented decrements in left ventricular function during intense exercise and the release of cardiac markers of necrosis in athlete's blood of uncertain significance. Furthermore, cardiac remodeling may predispose athletes to heart disease and result in electrical remodeling, responsible for arrhythmias...
June 26, 2017: World Journal of Cardiology
https://www.readbyqxmd.com/read/28705070/comparison-of-two-european-models-estimating-risk-of-sudden-cardiac-death-in-hypertrophic-cardiomyopathy
#9
Pawel Rubis, Barbara Biernacka-Fijalkowska, Lusine Khachatryan, Aleksandra Karabinowska, Patrycja Faltyn, Ewa Dzwiecka, Sylwia Wisniowska-Smialek, Lidia Tomkiewcz-Pająk, Piotr Podolec
Objective Hypertrophic cardiomyopathy (HCM) is associated with a risk of sudden cardiac death (SCD). Several models have been developed to estimate SCD risk and guide preventive therapy. The comparison of the previous 2003 with novel 2014 SCD risk models have never been studied. Methods Over a year we included 103 consecutive HCM patients without previous cardiac arrest and/or ICD implanted (65% males; aged 53.3 ± 13.9 years; mean EF 62.3 ± 18%). The SCD risk was calculated for each patient. Results Based on the 2003 model, patients had following scores: 0 points -15 (15%) patients, 1-28 (27%), 2-34 (33%), 3-18 (17%), ≥ 4-8 (8%)...
July 14, 2017: Acta Cardiologica
https://www.readbyqxmd.com/read/28704447/sexual-dimorphisms-of-mrna-and-mirna-in-human-murine-heart-disease
#10
Masato Tsuji, Takanori Kawasaki, Takeru Matsuda, Tomio Arai, Satoshi Gojo, Jun K Takeuchi
BACKGROUND: Sexual dimorphisms are well recognized in various cardiac diseases such as ischemic cardiomyopathy (ICM), hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). Thorough understanding of the underlying genetic programs is crucial to optimize treatment strategies specified for each gender. By performing meta-analysis and microarray analysis, we sought to comprehensively characterize the sexual dimorphisms in the healthy and diseased heart at the level of both mRNA and miRNA transcriptome...
2017: PloS One
https://www.readbyqxmd.com/read/28703272/left-ventricular-non-compaction-and-hypertrophic-cardiomyopathy-two-overlapping-diseases-or-two-manifestations-of-the-same-cardiomyopathy-response-to-the-letter-concerning-the-article-left-ventricular-non-compaction-associated-with-hypertrophic%C3%A2
#11
https://www.readbyqxmd.com/read/28703265/noncompaction-may-not-only-be-non-isolated-but-also-myopathic-commentary-to-the-article-left-ventricular-non-compaction-associated-with-hypertrophic-cardiomyopathy-in-the-same-patient
#12
https://www.readbyqxmd.com/read/28701526/how-to-image-hypertrophic-cardiomyopathy
#13
REVIEW
Martin S Maron, Ethan J Rowin, Barry J Maron
No abstract text is available yet for this article.
July 2017: Circulation. Cardiovascular Imaging
https://www.readbyqxmd.com/read/28701362/accuracy-of-the-ecg-for-differential-diagnosis-between-hypertrophic-cardiomyopathy-and-athlete-s-heart-comparison-between-the-european-society-of-cardiology-2010-and-international-2017-criteria
#14
Alessandro Zorzi, Chiara Calore, Riccardo Vio, Antonio Pelliccia, Domenico Corrado
BACKGROUND: Interpretation of the athlete's ECG is based on differentiation between benign ECG changes and potentially pathological abnormalities. The aim of the study was to compare the 2010 European Society of Cardiology (ESC) and the 2017 International criteria for differential diagnosis between hypertrophic cardiomyopathy (HCM) and athlete's heart. METHODS: The study populations included 200 patients with HCM and 563 athletes grouped as follows: 'group 1', including normal ECG and isolated increase of QRS voltages, which are considered non-pathologic according to ESC and International criteria; 'group 2', including left atrial enlargement or left axis deviation in isolation and Q-waves with an amplitude ≥4 mm but <25% of the ensuing R-wave and a duration <0...
July 12, 2017: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/28700929/a-cardiomyopathy-mutation-in-the-myosin-essential-light-chain-alters-actomyosin-structure
#15
Piyali Guhathakurta, Ewa Prochniewicz, Osha Roopnarine, John A Rohde, David D Thomas
We have used site-directed time-resolved fluorescence resonance energy transfer to determine the effect of a pathological mutation in the human ventricular essential light chain (hVELC) of myosin, on the structural dynamics of the actin-myosin complex. The hVELC modulates the function of actomyosin, through the interaction of its N-terminal extension with actin and its C-terminal lobe with the myosin heavy chain. Several mutations in hVELC are associated with hypertrophic cardiomyopathy (HCM). Some biochemical effects of these mutations are known, but further insight is needed about their effects on the structural dynamics of functioning actomyosin...
July 11, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28699631/co-inheritance-of-mutations-associated-with-arrhythmogenic-cardiomyopathy-and-hypertrophic-cardiomyopathy
#16
Marzia De Bortoli, Chiara Calore, Alessandra Lorenzon, Martina Calore, Giulia Poloni, Elisa Mazzotti, Ilaria Rigato, Martina Perazzolo Marra, Paola Melacini, Sabino Iliceto, Gaetano Thiene, Cristina Basso, Luciano Daliento, Domenico Corrado, Alessandra Rampazzo, Barbara Bauce
Arrhythmogenic cardiomyopathy (ACM) and hypertrophic cardiomyopathy (HCM) are genetically and phenotypically distinct disorders of the myocardium. Here we describe for the first time co-inheritance of mutations in genes associated with ACM or HCM in two families with recurrence of both cardiomyopathies. Among the double heterozygotes for mutations in desmoplakin (DSP) and myosin binding protein C (MYBPC3) genes identified in Family A, two were diagnosed with ACM and two with HCM. In Family B, one patient was identified to carry mutations in α-T-catenin (CTTNA3) and β-myosin (MYH7) genes, but he does not fulfill the current diagnostic criteria neither for ACM nor for HCM...
July 12, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28699125/uptake-of-predictive-genetic-testing-and-cardiac-evaluation-for-children-at-risk-for-an-inherited-arrhythmia-or-cardiomyopathy
#17
Susan Christian, Joseph Atallah, Robin Clegg, Michael Giuffre, Cathleen Huculak, Tara Dzwiniel, Jillian Parboosingh, Sherryl Taylor, Martin Somerville
Predictive genetic testing in minors should be considered when clinical intervention is available. Children who carry a pathogenic variant for an inherited arrhythmia or cardiomyopathy require regular cardiac screening and may be prescribed medication and/or be told to modify their physical activity. Medical genetics and pediatric cardiology charts were reviewed to identify factors associated with uptake of genetic testing and cardiac evaluation for children at risk for long QT syndrome, hypertrophic cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy...
July 11, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28697927/a-unique-case-of-type-1-facioscapulohumeral-muscular-dystrophy-and-sarcomeric-hypertrophic-cardiomyopathy
#18
Gustavo Lima da Silva, Tatiana Guimarães, Fausto J Pinto, Dulce Brito
No abstract text is available yet for this article.
July 8, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28695818/progress-in-molecular-genetic-study-of-mitochondrial-cardiomyopathy
#19
Ruiqi Zhuge, Rong Zhou, Xinhai Ni
Mitochondria plays a key role in providing ATP for the energy-consuming cardiac tissues. Mitochondrial cardiomyopathy is a myocardial condition characterized by abnormal heart structure and/or function secondary to genetic defects involving the mitochondrial respiratory chain. The typical cardiac manifestations of mitochondrial cardiomyopathy include hypertrophic and dilated cardiomyopathy,while left ventricular myocardial noncompaction is less common. Recent research has suggested that most mitochondrial diseases result from mitochondrial DNA mutation,which can be found in genes that encode ancillary proteins needed for genetic transcription (tRNA),in genes that encode subunits of the electron transport chain complexes,or in genes that control the activities of the mitochondria called D-loop zone...
June 20, 2017: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
https://www.readbyqxmd.com/read/28694399/familial-hypertrophic-cardiomyopathy-a-case-with-a-new-mutation-in-the-mybpc3-gene
#20
Olgu Hallıoğlu Kılınç, Dilek Giray, Atıl Bişgin, Sevcan Tuğ Bozdoğan, Derya Karpuz
Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease with variable clinical features that is inherited as autosomal dominant with variable penetrance. Recent developments in genetics of hereditary cardiomyopathy have not only enlightened many points about pathogenesis, but have also provided great benefit to diagnostic approaches of clinicians. Heterozygous mutation of c3691-3692insTTCA in MYBPC3 gene was identified in a pediatric patient with diagnosis of hypertrophic cardiomyopathy at clinic...
July 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
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