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https://www.readbyqxmd.com/read/28183324/identification-of-taz-mutations-in-pediatric-patients-with-cardiomyopathy-by-targeted-next-generation-sequencing-in-a-chinese-cohort
#1
Jian Wang, Ying Guo, Meirong Huang, Zhen Zhang, Junxue Zhu, Tingliang Liu, Lin Shi, Fen Li, Huimin Huang, Lijun Fu
BACKGROUND: Barth syndrome (BTHS) is a rare X-linked recessive disease characterized by cardiomyopathy, neutropenia, skeletal myopathy and growth delay. Early diagnosis and appropriate treatment may improve the prognosis of this disease. The purpose of this study is to determine the role of targeted next-generation sequencing (NGS) in the early diagnosis of BTHS in children with cardiomyopathy. METHODS: During the period between 2012 and 2015, a gene panel-based NGS approach was used to search for potentially disease-causing genetic variants in all patients referred to our institution with a clinical diagnosis of primary cardiomyopathy...
February 10, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28158907/naturally-occurring-biventricular-noncompaction-in-an-adult-domestic-cat
#2
M D Kittleson, P R Fox, C Basso, G Thiene
A definitively diagnosed case of left ventricular noncompaction (LVNC) has not been previously reported in a non-human species. We describe a Maine Coon cross cat with echocardiographically and pathologically documented LVNC. The cat was from a research colony and was heterozygous for the cardiac myosin binding protein C mutation associated with hypertrophic cardiomyopathy (HCM) in Maine Coon cats (A31P). The cat had had echocardiographic examinations performed every 6 months until 6 years of age at which time the cat died of an unrelated cause...
February 3, 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28154298/long-term-prognosis-of-patients-with-left-ventricular-noncompaction%C3%A3-comparison-between-infantile-and-juvenile-types
#3
Ce Wang, Asami Takasaki, Sayaka Watanabe Ozawa, Hideyuki Nakaoka, Mako Okabe, Nariaki Miyao, Kazuyoshi Saito, Keijiro Ibuki, Keiichi Hirono, Naoki Yoshimura, Xianyi Yu, Fukiko Ichida
BACKGROUND: The natural history of left ventricular noncompaction (LVNC) is largely unsolved, so the aim of the present study was to clarify the clinical features and long-term prognosis of children with LVNC until adulthood.Methods and Results:We conducted a nationwide survey over 20 years and compared the clinical features, anatomical characteristics and long-term prognosis of 205 patients divided into 2 classifications: infantile type (diagnosed at <1 year of age: 108 cases) and juvenile type (diagnosed 1-15 years of age: 97 cases)...
February 2, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28131074/noncompaction-cardiomyopathy-in-hirschsprung-s-disease-a-case-report
#4
Silvia D Visonà, Gaetano Thiene, Savina Mannarino, Giulia Corana, Antonio Osculati, Annalisa Angelini, Stefania Rizzo
Noncompaction cardiomyopathy is a rare disorder, often associated with cardiac and noncardiac malformations. Hirschsprung's disease, a well-known aganglionosis, is associated with congenital heart diseases and has been reported to be due to impairment migration and differentiation of neural crest cells. Here, we present an 8-month-old male infant who died for cardiogenic shock after surgical resection of the involved bowel segment. The child was affected by both noncompaction cardiomyopathy and Hirschsprung's disease, two entities which can share a common neural crest-derived etiology...
January 2, 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/28108756/left-ventricular-noncompaction-cardiomyopathy-in-pediatric-patients-a-case-series-of-a-clinically-heterogeneous-disease
#5
Umang Gupta, Pooja Makhija
Left ventricular noncompaction is a rare form of cardiomyopathy, which results from multiple trabeculations in the left ventricular myocardium. The clinical presentation is highly variable, and spectrum includes asymptomatic patients diagnosed during family screening on one end to patients with depressed systolic function, heart failure, thromboembolic complications, and cardiac arrhythmias on the other (Kim et al in J Am Coll Cardiol 53: 2009, 2009). Further, the progression of the condition is highly variable...
January 21, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28079110/left-ventricular-noncompaction-cardiomyopathy-cardiac-neuromuscular-and-genetic-factors
#6
REVIEW
Josef Finsterer, Claudia Stöllberger, Jeffrey A Towbin
Left ventricular hypertrabeculation (LVHT) or noncompaction is a myocardial abnormality of unknown aetiology, frequently associated with monogenic disorders, particularly neuromuscular disorders, or with chromosomal defects. LVHT is diagnosed usually by echocardiography by the presence of a bilayered myocardium consisting of a thick, spongy, noncompacted endocardial layer and a thin, compacted, epicardial layer. The pathogenesis of LVHT is unsolved, and the diagnostic criteria, prognosis, and optimal treatment of patients with LVHT are under debate...
January 12, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28076895/implantation-of-left-ventricular-assist-device-in-a-patient-with-left-ventricular-non-compaction
#7
Keki R Balsara, Andrew Bierhals, Justin Vader, Michael K Pasque, Aki Itoh
Left ventricular noncompaction (LVNC) may result in systolic left ventricular (LV) failure resulting in the need for heart transplantation. LV assist devices (LVAD) have been used to bridge these patients to transplantation; however, the extensive trabeculations found in these patients predispose them to thromboembolic events and pump thrombosis. We describe a patient with LVNC in whom an aggressive surgical approach was used to debride the LV cavity of trabeculations to successfully implant an LVAD.
January 11, 2017: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/28067668/adaptor-proteins-numb-and-numbl-promote-cell-cycle-withdrawal-by-targeting-erbb2-for-degradation
#8
Maretoshi Hirai, Yoh Arita, C Jane McGlade, Kuo-Fen Lee, Ju Chen, Sylvia M Evans
Failure of trabecular myocytes to undergo appropriate cell cycle withdrawal leads to ventricular noncompaction and heart failure. Signaling of growth factor receptor ERBB2 is critical for myocyte proliferation and trabeculation. However, the mechanisms underlying appropriate downregulation of trabecular ERBB2 signaling are little understood. Here, we have found that the endocytic adaptor proteins NUMB and NUMBL were required for downregulation of ERBB2 signaling in maturing trabeculae. Loss of NUMB and NUMBL resulted in a partial block of late endosome formation, resulting in sustained ERBB2 signaling and STAT5 activation...
February 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28058741/noncompaction-cardiomyopathy-the-role-of-advanced-multimodality-imaging-techniques-in-diagnosis-and-assessment
#9
REVIEW
Lakshmi H Chebrolu, Anjlee M Mehta, Navin C Nanda
Noncompaction cardiomyopathy (NCCM) is a unique cardiomyopathy with a diverse array of genotypic and phenotypic manifestations. Its hallmark morphology consists of a bilayered myocardium with a compact epicardial layer and prominent trabeculations that comprise the noncompacted endocardial layer. The controversial diagnostic criteria for NCCM have been frequently discussed in the literature. This review touches on those diagnostic criteria, delves further into the evolving use of advanced imaging techniques within the major imaging modalities (echocardiography, computed tomography, and cardiac magnetic resonance imaging), and proposes an alternative algorithm incorporating these techniques for aiding with the diagnosis of NCCM...
January 6, 2017: Echocardiography
https://www.readbyqxmd.com/read/28057633/compacting-a-single-flow-diverter-versus-overlapping-flow-diverters-for-intracranial-aneurysms-a-computational-study
#10
R J Damiano, V M Tutino, N Paliwal, D Ma, J M Davies, A H Siddiqui, H Meng
BACKGROUND AND PURPOSE: Locally compacting the mesh of a flow diverter by a dynamic push-pull technique can accelerate intracranial aneurysm healing. We asked how this deployment strategy compares with overlapping 2 flow diverters for aneurysmal flow reduction. MATERIALS AND METHODS: Using a high-fidelity virtual stent placement method, we simulated 3 flow-diverter strategies (single noncompacted, 2 overlapped, and single compacted) in 3 aneurysms (fusiform, large saccular, and medium saccular)...
January 5, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28039183/spongious-ischemic-myocardium-dealing-with-morphological-criteria-of-noncompaction-cardiomyopathy
#11
Gonzalo Navarrete, Eduardo Pozo, Pablo Díez-Villanueva, María José Olivera, Paloma Caballero, Luis Jesús Jiménez-Borreguero, Fernando Alfonso
No abstract text is available yet for this article.
January 2017: Circulation. Heart Failure
https://www.readbyqxmd.com/read/27991950/on-reduced-l2-cohomology-of-hypersurfaces-in-spheres-with-finite-total-curvature
#12
Peng Zhu
In this paper, we prove that the dimension of the second space of reduced L2 cohomology of M is finite if is a complete noncompact hypersurface in a sphere
October 2016: Anais da Academia Brasileira de Ciências
https://www.readbyqxmd.com/read/27989498/recent-advancements-in-the-molecular-genetics-of-left-ventricular-noncompaction-cardiomyopathy
#13
REVIEW
Xueqi Dong, Peng Fan, Tao Tian, Yankun Yang, Yan Xiao, Kunqi Yang, Yaxin Liu, Xianliang Zhou
Left ventricular noncompaction cardiomyopathy (LVNC) is a myocardial disorder characterized by prominent and excessive trabeculations with deep recesses in the ventricular wall. Clinical manifestations of LVNC are highly variable, ranging from no symptoms to arrhythmias, heart failure, thromboembolism, or even sudden cardiac death. It is a heterogenetic disease which can be presented as an autosomal, X-linked or mitochondrial disorder. A series of candidate mutations have been identified in LVNC patients or murine models...
February 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27867465/specification-of-the-myopathy-type-may-influence-the-management-of-noncompaction
#14
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
July 2016: Heart Views: the Official Journal of the Gulf Heart Association
https://www.readbyqxmd.com/read/27855807/left-ventricular-noncompaction-or-is-it
#15
EDITORIAL
Nay Aung, Filip Zemrak, Steffen E Petersen
No abstract text is available yet for this article.
November 15, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27855806/long-term-prognostic-value-of-cardiac%C3%A2-magnetic-resonance-in-left%C3%A2-ventricle-noncompaction-a-prospective-multicenter-study
#16
Daniele Andreini, Gianluca Pontone, Jan Bogaert, Alberto Roghi, Andrea Barison, Juerg Schwitter, Saima Mushtaq, Georgios Vovas, Paola Sormani, Giovanni D Aquaro, Pierre Monney, Chiara Segurini, Marco Guglielmo, Edoardo Conte, Laura Fusini, Antonio Dello Russo, Massimo Lombardi, Paola Gripari, Andrea Baggiano, Cesare Fiorentini, Federico Lombardi, Antonio L Bartorelli, Mauro Pepi, Pier Giorgio Masci
BACKGROUND: Cardiac magnetic resonance (CMR) is useful for the diagnosis of left ventricular noncompaction (LVNC). However, there are limited data regarding its prognostic value. OBJECTIVES: The goal of this study was to evaluate the prognostic relevance of CMR findings in patients with LVNC. METHODS: A total of 113 patients with an echocardiographic diagnosis of LVNC underwent CMR at 5 referral centers. CMR diagnostic criterion of LVNC (noncompacted/compacted ratio >2...
November 15, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27855805/left-ventricular-noncompaction-anatomical-phenotype-or-distinct-cardiomyopathy
#17
Jonathan R Weir-McCall, Phey Ming Yeap, Carla Papagiorcopulo, Kerrie Fitzgerald, Stephen J Gandy, Matthew Lambert, Jill J F Belch, Ian Cavin, Roberta Littleford, Jennifer A Macfarlane, Shona Z Matthew, R Stephen Nicholas, Allan D Struthers, Frank Sullivan, Shelley A Waugh, Richard D White, J Graeme Houston
BACKGROUND: There is considerable overlap between left ventricular noncompaction (LVNC) and other cardiomyopathies. LVNC has been reported in up to 40% of the general population, raising questions about whether it is a distinct pathological entity, a remodeling epiphenomenon, or merely an anatomical phenotype. OBJECTIVES: The authors determined the prevalence and predictors of LVNC in a healthy population using 4 cardiac magnetic resonance imaging diagnostic criteria...
November 15, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27843800/left-ventricular-noncompaction-diagnosed-following-graves-disease
#18
Habib Habib, Amer Hawatmeh, Upamanyu Rampal, Fayez Shamoon
Isolated left ventricular noncompaction (LVNC) is a rare genetic cardiomyopathy. Clinical manifestations are variable; patients may present with heart failure symptoms, arrhythmias, and systemic thromboembolism. However, it can also be asymptomatic. When asymptomatic, LVNC can manifest later in life after the onset of another unrelated condition. We report a case of LVNC which was diagnosed following a hyperthyroid state secondary to Graves' disease. The association of LVNC with other noncardiac abnormalities including neurological, hematological, and endocrine abnormalities including hypothyroidism has been described in isolated case reports before...
October 2016: Avicenna Journal of Medicine
https://www.readbyqxmd.com/read/27842951/suspected-malignant-hyperthermia-during-biventricular-assist-device-implantation-in-a-patient-with-left-ventricular-noncompaction-cardiomyopathy
#19
Karsten Schmidt, Anke Missler, Christoph Lichtenstern, Thorsten Brenner, Bastian Schmack, Arjang Ruhparwar, Markus A Weigand, Stefan Hofer
No abstract text is available yet for this article.
August 21, 2016: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/27830773/grey-zones-in-cardiomyopathies-defining-boundaries-between-genetic-and-iatrogenic-disease
#20
REVIEW
Giovanni Quarta, Michael Papadakis, Paolo Di Donna, Niccolò Maurizi, Attilio Iacovoni, Antonello Gavazzi, Michele Senni, Iacopo Olivotto
Genetic cardiomyopathies are complex diseases with heterogeneous clinical presentation and phenotypes. Early descriptions of cardiomyopathies originated from case studies involving individuals with severe, paradigmatic presentation, which provided insight into the worst-case scenarios of these conditions. With time, improved diagnostic sensitivity and awareness of cardiomyopathies has uncovered a more heterogeneous disease spectrum, including mild phenotypes overlapping with physiological variation. This diagnostic 'grey area' poses important dilemmas, particularly in athletes...
November 10, 2016: Nature Reviews. Cardiology
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