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https://www.readbyqxmd.com/read/27918120/focal-ventricular-tachycardia-associated-with-an-apical-aneurysm-in-a-patient-with-hypertrophic-cardiomyopathy
#1
Taihei Itoh, Vineet Kumar, Takumi Yamada
No abstract text is available yet for this article.
December 5, 2016: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/27916321/exercise-induced-quantitative-microvolt-t-wave-alternans-in-hypertrophic-cardiomyopathy
#2
Murillo de Oliveira Antunes, Nelson Samesima, Horacio Gomes Pereira Filho, Afonso Yoshikiro Matsumoto, Richard L Verrier, Carlos Alberto Pastore, Edmundo Arteaga-Fernández, Charles Mady
BACKGROUND/PURPOSE: Patients with hypertrophic cardiomyopathy (HCM) have elevated risk for sudden cardiac death (SCD). Our study aimed to quantitatively characterize microvolt T-wave alternans (TWA), a potential arrhythmia risk stratification tool, in this HCM patient population. METHODS: TWA was analyzed with the quantitative modified moving average (MMA) in 132 HCM patients undergoing treadmill exercise testing, grouped according to Maron score risk factors as high-risk (H-Risk, n=67,), or low-risk (L-Risk, n=65, without these risk factors)...
October 28, 2016: Journal of Electrocardiology
https://www.readbyqxmd.com/read/27910300/a-new-missense-mutation-p-arg719leu-of-the-beta-myosin-heavy-chain-gene-in-a-patient-with-familial-hypertrophic-cardiomyopathy
#3
Monika Gawor, Zofia T Bilińska, Maria Franaszczyk, Ewa Michalak, Płoski Rafał, Jacek Grzybowski
No abstract text is available yet for this article.
February 2017: Minerva Cardioangiologica
https://www.readbyqxmd.com/read/27910298/challenges-in-the-hemodynamic-management-of-a-patient-with-occult-left-ventricular-hypertrophic-cardiomyopathy
#4
Alexandre Bedet, Keyvan Razazi, Armand Mekontso Dessap
No abstract text is available yet for this article.
February 2017: Minerva Cardioangiologica
https://www.readbyqxmd.com/read/27908349/truncating-flnc-mutations-are-associated-with-high-risk-dilated-and-arrhythmogenic-cardiomyopathies
#5
Martín F Ortiz-Genga, Sofía Cuenca, Matteo Dal Ferro, Esther Zorio, Ricardo Salgado-Aranda, Vicente Climent, Laura Padrón-Barthe, Iria Duro-Aguado, Juan Jiménez-Jáimez, Víctor M Hidalgo-Olivares, Enrique García-Campo, Chiara Lanzillo, M Paz Suárez-Mier, Hagith Yonath, Sonia Marcos-Alonso, Juan P Ochoa, José L Santomé, Diego García-Giustiniani, Jorge L Rodríguez-Garrido, Fernando Domínguez, Marco Merlo, Julián Palomino, María L Peña, Juan P Trujillo, Alicia Martín-Vila, Davide Stolfo, Pilar Molina, Enrique Lara-Pezzi, Francisco E Calvo-Iglesias, Eyal Nof, Leonardo Calò, Roberto Barriales-Villa, Juan R Gimeno-Blanes, Michael Arad, Pablo García-Pavía, Lorenzo Monserrat
BACKGROUND: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death. OBJECTIVES: The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies...
December 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27904993/molecular-mechanisms-of-heart-failure-insights-from-drosophila
#6
Shasha Zhu, Zhe Han, Yan Luo, Yulin Chen, Qun Zeng, Xiushan Wu, Wuzhou Yuan
Heart failure places an enormous burden on health and economic systems worldwide. It is a complex disease that is profoundly influenced by both genetic and environmental factors. Neither the molecular mechanisms underlying heart failure nor effective prevention strategies are fully understood. Fortunately, relevant aspects of human heart failure can be experimentally studied in tractable model animals, including the fruit fly, Drosophila, allowing the in vivo application of powerful and sophisticated molecular genetic and physiological approaches...
December 1, 2016: Heart Failure Reviews
https://www.readbyqxmd.com/read/27903380/-a-case-report-of-mid-ventricular-obstructive-hypertrophic-cardiomyopathy-with-apical-aneurysm
#7
C Gou, P R Li, J Q Liu
No abstract text is available yet for this article.
October 24, 2016: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/27901040/follow-up-care-by-a-genetic-counsellor-for-relatives-at-risk-for-cardiomyopathies-is-cost-saving-and-well-appreciated-a-randomised-comparison
#8
Karin Nieuwhof, Erwin Birnie, Maarten P van den Berg, Rudolf A de Boer, Paul L van Haelst, J Peter van Tintelen, Irene M van Langen
Increasing numbers of patient relatives at risk of developing dilated or hypertrophic cardiomyopathy (DCM/HCM) are being identified and followed up by cardiologists according to the ACC/ESC guidelines. However, given limited healthcare resources, good-quality low-cost alternative approaches are needed. Therefore, we have compared conventional follow-up by a cardiologist with that provided at a cardiogenetic clinic (CGC) led by a genetic counsellor. Phenotype-negative first-degree relatives at risk for DCM/HCM were randomly assigned to see either a cardiologist or to attend a CGC...
November 30, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27899143/presymptomatic-diagnosis-of-fabry-s-disease-a-case-report
#9
Rasmus Bo Hasselbalch, Per Lav Madsen, Henning Bundgaard, Juliane Theilade
BACKGROUND: Fabry's disease is a rare X-linked genetic disorder characterized by reduced levels of the α-galactosidase A enzyme. It may present with a cardiac phenotype resembling hypertrophic cardiomyopathy. However, as a specific enzyme replacement therapy is available, it remains an important differential diagnoses in patients presenting with cardiac hypertrophy. In boys, onset has been reported in early childhood with complaints initially comprising neuropathic pain, reduced sweat production, and gastrointestinal symptoms...
November 29, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27895589/amino-acid-changes-at-arginine-204-of-troponin-i-result-in-increased-calcium-sensitivity-of-force-development
#10
Susan Nguyen, Rylie Siu, Shannamar Dewey, Ziyou Cui, Aldrin V Gomes
Mutations in human cardiac troponin I (cTnI) have been associated with restrictive, dilated, and hypertrophic cardiomyopathies. The most commonly occurring residue on cTnI associated with familial hypertrophic cardiomyopathy (FHC) is arginine (R), which is also the most common residue at which multiple mutations occur. Two FHC mutations are known to occur at cTnI arginine 204, R204C and R204H, and both are associated with poor clinical prognosis. The R204H mutation has also been associated with restrictive cardiomyopathy (RCM)...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27895024/the-role-of-calcium-calmodulin-dependent-protein-kinase-ii-activation-in-hypertrophic-cardiomyopathy
#11
EDITORIAL
Jil C Tardiff
No abstract text is available yet for this article.
November 29, 2016: Circulation
https://www.readbyqxmd.com/read/27894062/echocardiographic-comparison-between-left-ventricular-non-compaction-and-hypertrophic-cardiomyopathy
#12
Trine F Haland, Jørg Saberniak, Ida S Leren, Thor Edvardsen, Kristina H Haugaa
BACKGROUND: Modern imaging technology has improved detection of left ventricular non-compaction cardiomyopathy (LVNC). Hypertrophic cardiomyopathy (HCM) shares morphological features with LVNC, but prognosis and treatment strategies differ between LVNC and HCM. METHODS AND RESULTS: We aimed to compare global and regional LV myocardial function in LVNC and HCM. We hypothesized that apical function is reduced in LVNC due to the embryonic reduced compaction of the apex...
November 9, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27892886/safety-profile-and-utility-of-treadmill-exercise-in-patients-with-high-gradient-hypertrophic-cardiomyopathy
#13
Lars Lindholm Sorensen, Hsin-Yueh Liang, Aurelio Pinheiro, Alex Hilser, Veronica Dimaano, Niels Thue Olsen, Thomas Fritz Hansen, Peter Sogaard, Alexandra Nowbar, Chiara Pisanello, Iraklis Pozios, Susan Phillip, Xun Zhou, Roselle Abraham, Theodore P Abraham
: Exercise echocardiography in the evaluation of hypertrophic cardiomyopathy (HCM) provides valuable information for risk stratification, selection of optimal treatment, and prognostication. However, HCM patients with left ventricular outflow tract gradients ≥30mm Hg are often excluded from exercise testing because of safety considerations. We examined the safety and utility of exercise testing in patients with high-gradient HCM. METHODS: We evaluated clinical characteristics, hemodynamics, and imaging variables in 499 consecutive patients with HCM who performed 959 exercise tests...
October 20, 2016: American Heart Journal
https://www.readbyqxmd.com/read/27891585/novel-mutations-in-kars-cause-hypertrophic-cardiomyopathy-and-combined-mitochondrial-respiratory-chain-defect
#14
Daniela Verrigni, Daria Diodato, Michela Di Nottia, Alessandra Torraco, Emanuele Bellacchio, Teresa Rizza, Giulia Tozzi, Margherita Verardo, Fiorella Piemonte, Giorgio Tasca, Adele D'Amico, Enrico Bertini, Rosalba Carrozzo
Mutations in KARS, which encodes for both mitochondrial and cytoplasmic lysyl-tRNA synthethase, have been so far associated with three different phenotypes: the recessive form of Charcot Mary-Tooth polyneuropathy, the autosomal recessive non-syndromic hearing loss and the last recently described condition related to congenital visual impairment and progressive microcephaly. Here we report the case of a 14-years-old-girl with severe cardiomyopathy associated to mild psychomotor delay and mild myopathy; moreover, a diffuse reduction of cytochrome C oxidase (COX, complex IV) and a combined enzymatic defect of complex I (CI) and IV (CIV) was evident in muscle biopsy...
November 28, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27887686/erratum-for-utility-of-isoproterenol-to-provoke-outflow-tract-gradients-in-patients-with-hypertrophic-cardiomyopathy-am-j-cardiol-2008-101-516-520
#15
(no author information available yet)
No abstract text is available yet for this article.
November 22, 2016: American Journal of Cardiology
https://www.readbyqxmd.com/read/27885498/prognostic-predictive-value-of-gene-mutations-in-japanese-patients-with-hypertrophic-cardiomyopathy
#16
Ayako Chida, Kei Inai, Hiroki Sato, Eriko Shimada, Tsutomu Nishizawa, Mitsuyo Shimada, Michiko Furutani, Yoshiyuki Furutani, Yoichi Kawamura, Masaya Sugimoto, Jun Ishihara, Masako Fujiwara, Takashi Soga, Masatoshi Kawana, Shinya Fuji, Shigeru Tateno, Kenji Kuraishi, Shigetoyo Kogaki, Mitsuhiro Nishimura, Mamoru Ayusawa, Fukiko Ichida, Hirokuni Yamazawa, Rumiko Matsuoka, Shigeaki Nonoyama, Toshio Nakanishi
Although some studies have attempted to find useful prognostic factors in hypertrophic cardiomyopathy (HCM), those results are not fully helpful for use in actual clinical practice. Furthermore, several genetic abnormalities associated with HCM have been identified. However, the genotype-phenotype correlation in HCM remains to be elucidated. Here, we attempted to assess patients with different types of gene mutations causing HCM and investigate the prognosis. A total of 140 patients with HCM underwent a screening test for myofilament gene mutations by direct sequencing of eight sarcomeric genes...
November 24, 2016: Heart and Vessels
https://www.readbyqxmd.com/read/27884629/urgent-listing-exceptions-and-outcomes-in-pediatric-heart-transplantation-comparison-to-standard-criteria-patients
#17
Ryan R Davies, Michael A McCulloch, Shylah Haldeman, Samuel S Gidding, Christian Pizarro
BACKGROUND: United Network for Organ Sharing (UNOS) policy enables listing exceptions to avoid penalizing patients with waitlist mortality not captured by standard criteria. Outcomes among patients listed by exception have not been analyzed. METHODS: We performed a retrospective analysis of pediatric (≤17 years of age, n = 4,706) listings (2006 to 2015) for primary, isolated heart transplantation within the UNOS data set, assessing Status 1A exception (n = 211, 4...
October 1, 2016: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/27884247/machine-learning-algorithms-to-automate-morphological-and-functional-assessments-in-2d-echocardiography
#18
Sukrit Narula, Khader Shameer, Alaa Mabrouk Salem Omar, Joel T Dudley, Partho P Sengupta
BACKGROUND: Machine-learning models may aid cardiac phenotypic recognition by using features of cardiac tissue deformation. OBJECTIVES: This study investigated the diagnostic value of a machine-learning framework that incorporates speckle-tracking echocardiographic data for automated discrimination of hypertrophic cardiomyopathy (HCM) from physiological hypertrophy seen in athletes (ATH). METHODS: Expert-annotated speckle-tracking echocardiographic datasets obtained from 77 ATH and 62 HCM patients were used for developing an automated system...
November 29, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27882462/proliferative-potential-of-cardiomyocytes-in-hypertrophic-cardiomyopathy-correlation-with-myocardial-remodeling
#19
T V Sukhacheva, Yu A Chudinovskikh, M V Eremeeva, R A Serov, L A Bockeria
Proliferating Ki-67(+) cardiomyocytes were detected in the interventricular septum myocardium of adult patients with hypertrophic cardiomyopathy. In the same patients, the severity of hypertrophy and the degree of cardiomyocyte differentiation were assessed by the content of myofibrils, ultrastructural morphology, and the pattern of connexin 43-containing gap junction distribution. Adult Ki-67(+) cardiomyocytes containing sarcomeric α-actin (sarc α-act(+)) in the sarcoplasm (diameter 23.9±6.9 μ) were detected in the myocardium of patients with hypertrophic cardiomyopathy; their relative content varied from 2 to 3084 cells per 1 million cardiomyocytes...
November 23, 2016: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/27882103/identification-of-proteins-suppressing-the-functions-of-oncogenic-phosphatase-of-regenerating-liver-1-and-3
#20
Ju-Dong Lee, Haiyoung Jung, Sang-Hyun Min
The phosphatase of regenerating liver (PRL) family, including PRL-1, PRL-2, and PRL-3, comprises protein tyrosine phosphatases whose deregulation is associated with the tumorigenesis and metastasis of many types of cancer. However, the underlying mechanism is poorly understood. In this study, aiming to increase understanding of the molecular mechanisms underlying the functions of PRL-1 and PRL-3, a yeast two-hybrid system was employed to screen for their interacting proteins. Alignment with the NCBI BLAST database revealed 12 interactive proteins: Synaptic nuclear envelope protein 2, emerin, mannose 6-phosphate receptor-binding protein 1, low-density lipoprotein receptor-related protein 10, Rab acceptor 1, tumor protein D52-like 2, selectin P ligand (SELPLG), guanylate binding protein 1, transmembrane and ubiquitin-like domain-containing 2, NADH:ubiquinone oxidoreductase subunit B8, syndecan 4 and FK506-binding protein 8 (FKBP8)...
November 2016: Experimental and Therapeutic Medicine
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