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left ventricular noncompaction

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https://www.readbyqxmd.com/read/29349559/a-mutant-hcn4-channel-in-a-family-with-bradycardia-left-bundle-branch-block-and-left-ventricular-noncompaction
#1
Ryosuke Yokoyama, Koshi Kinoshita, Yukiko Hata, Masayoshi Abe, Kenta Matsuoka, Keiichi Hirono, Masanobu Kano, Makoto Nakazawa, Fukiko Ichida, Naoki Nishida, Toshihide Tabata
We found that a female infant presenting with left bundle branch block and left ventricular noncompaction carries uninvestigated gene mutations HCN4(G811E), SCN5A(L1988R), DMD(S2384Y), and EMD(R203H). Here, we explored the possible pathogenicity of HCN4(G811E), which results in a G811E substitution in hyperpolarization-activated cyclic nucleotide-gated channel 4, the main subunit of the cardiac pacemaker channel. Voltage-clamp measurements in a heterologous expression system of HEK293T cells showed that HCN4(G811E) slightly reduced whole-cell HCN4 channel conductance, whereas it did not affect the gating kinetics, unitary conductance, or cAMP-dependent modulation of voltage-dependence...
January 18, 2018: Heart and Vessels
https://www.readbyqxmd.com/read/29337306/zinc-transporter-slc39a8-is-essential-for-cardiac-ventricular-compaction
#2
Wen Lin, Deqiang Li, Lan Cheng, Li Li, Feiyan Liu, Nicholas J Hand, Jonathan A Epstein, Daniel J Rader
Isolated left ventricular noncompaction (LVNC) results from excessive trabeculation and impaired myocardial compaction during heart development. The extracellular matrix (ECM) that separates endocardium from myocardium plays a critical but poorly understood role in ventricular trabeculation and compaction. In an attempt to characterize solute carrier family 39 member 8-null (Slc39a8-null) mice, we discovered that homozygous null embryos do not survive embryogenesis, and exhibit a cardiac phenotype similar to human LVNC...
January 16, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29212902/is-left-ventricular-noncompaction-a-trait-phenotype-or-disease-the-evidence-points-to-phenotype
#3
EDITORIAL
Ray E Hershberger, Ana Morales, Jason Cowan
No abstract text is available yet for this article.
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29212898/genetic-testing-in-pediatric-left-ventricular-noncompaction
#4
Erin M Miller, Robert B Hinton, Richard Czosek, Angela Lorts, Ashley Parrott, Amy R Shikany, Richard F Ittenbach, Stephanie M Ware
BACKGROUND: Left ventricular noncompaction (LVNC) can occur in isolation or can co-occur with a cardiomyopathy phenotype or cardiovascular malformation. The yield of cardiomyopathy gene panel testing in infants, children, and adolescents with a diagnosis of LVNC is unknown. By characterizing a pediatric population with LVNC, we sought to determine the yield of cardiomyopathy gene panel testing, distinguish the yield of testing for LVNC with or without co-occurring cardiac findings, and define additional factors influencing genetic testing yield...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29203216/the-presence-of-multiple-variants-affects-the-clinical-phenotype-and-prognosis-in-left-ventricular-noncompaction-after-surgery
#5
Keiichi Hirono, Takehiko Sakai, Yukiko Hata, Naonori Nishida
No abstract text is available yet for this article.
October 28, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29196915/coexistence-of-left-ventricular-hypertrophy-and-noncompaction-a-case-report
#6
Ikuo Misumi, Tsuyoshi Honda, Masanobu Ishii, Kunihiro Ohmori
No abstract text is available yet for this article.
December 1, 2017: Journal of Echocardiography
https://www.readbyqxmd.com/read/29176328/cardiomyopathy-associated-gene-1-sensitive-pkc-dependent-connexin-43-expression-and-phosphorylation-in-left-ventricular-noncompaction-cardiomyopathy
#7
Yuanyuan Xie, Shenghua Liu, Shengshou Hu, Yingjie Wei
BACKGROUND/AIMS: Cardiomyopathy-associated gene 1 (CMYA1) plays an important role in embryonic cardiac development, postnatal cardiac remodeling and myocardial injury repair. Abnormal CMYA1 expression may be involved in cardiac dysplasia and primary cardiomyopathy. Our study aims to establish the relationship between CMYA1 and Left ventricular noncompaction cardiomyopathy (LVNC) pathogenesis. METHODS: We explored the effects of CMYA1 on connexins (Cx), which contribute to gap junction intercellular communication (GJIC), and the underlying signaling pathway in human normal tissues, LVNC myocardial tissues and HL1 cells by means of western blotting, RT-qPCR, immunohistochemistry, immunofluorescence, co-immunoprecipitation and scrape loading-dye transfer...
November 24, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29118297/phenotype-and-functional-analyses-in-a-transgenic-mouse-model-of-left-ventricular-noncompaction-caused-by-a-dtna-mutation
#8
Qing Cao, Yang Shen, Xin Liu, Xin Yu, Ping Yuan, Rong Wan, Xiuxia Liu, Xiaogang Peng, Wenfeng He, Jielin Pu, Kui Hong
DTNA encoding dystrobrevin-α (α-DB) is a putative causal gene associated with left ventricular noncompaction cardiomyopathy (LVNC). The aim of the study was to investigate the causal role of DTNA in LVNC using a transgenic mouse model.A missense mutation (c.146A > G, p.N49S) of DTNA was identified in a patient with LVNC by Sanger sequencing. Six independent lines of transgenic mice expressing the mutant DTNA under a myosin heavy chain 6 (Myh6) promoter were generated (Myh6:Dtna(N49S)). Phenotypic characteristics of DTNA-p...
November 8, 2017: International Heart Journal
https://www.readbyqxmd.com/read/29035186/left-ventricular-noncompaction-cardiomyopathy-and-recurrent-polymorphic-ventricular-tachycardia-a-case-report-and-literature-review
#9
Oluwaseun A Akinseye, Uzoma N Ibebuogu, Sunil K Jha
INTRODUCTION: Noncompaction cardiomyopathy is a rare phenotype of cardiomyopathy associated with severe cardiac arrhythmia and thromboembolic complications. CASE PRESENTATION: A 55-year-old woman presented with frank pulmonary edema and received a diagnosis of noncompaction cardiomyopathy. DISCUSSION: Left ventricular noncompaction cardiomyopathy is increasingly being diagnosed because of advances in imaging modalities. It is important to differentiate this new phenotype of cardiomyopathy from others because its diagnosis, management, and prognosis differ...
2017: Permanente Journal
https://www.readbyqxmd.com/read/29032583/third-generation-ventricular-assist-device-mid-term-outcomes-of-the-heartware-hvad-in-pediatric-patients
#10
Mustafa Pac, Sinan Sabit Kocabeyoglu, Umit Kervan, Dogan Emre Sert, Serhat Koca, Ibrahim Ece, Feyza Aysenur Pac
The HeartWare HVAD is a small, third generation continuous flow pump that is intracorporeally placed for support of a failing ventricle in adult patients. This device is small in size when compared to other left ventricular assist devices and can therefore be used in smaller sized pediatric patients. We present our initial experience using the HVAD as a bridge to heart transplantation in the pediatric population. We performed a retrospective, single center, nonrandomized review of 17 pediatric patients who underwent HVAD implantation between June 2013 and March 2016...
October 15, 2017: Artificial Organs
https://www.readbyqxmd.com/read/28966588/ischemic-stroke-in-a-young-patient-heralding-a-left-ventricular-noncompaction-cardiomyopathy
#11
Fanny Lestienne, Chiara Bruno, David Bertora, Jeanne Benoit, Marie-Hélène Mahagne, Laurent Suissa
Strokes in young patients may be the clinical expression of many complex and extremely rare diseases. Uncommon causes constitute less than 5% of all strokes, but are present in 30% of strokes in young patients. We report the case of a young woman whose ischemic stroke led to the diagnosis of a rare embolic cardiomyopathy, left ventricular noncompaction cardiomyopathy, requiring a heart transplant.
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28917495/complications-associated-with-implantable-cardioverter-defibrillators-in-adults-with-congenital-heart-disease-or-left-ventricular-noncompaction-cardiomyopathy-from-the-ncdr%C3%A2-implantable-cardioverter-defibrillator-registry
#12
MULTICENTER STUDY
Marye J Gleva, Yongfei Wang, Jeptha P Curtis, Charles I Berul, Charles B Huddleston, Jeanne E Poole
Patients with childhood heart disease are living longer and entering adulthood, and may undergo implantable cardioverter-defibrillator (ICD) implantation to reduce the risk of sudden death. We evaluated the characteristics of adult patients with congenital heart disease or left ventricular noncompaction cardiomyopathy (LVNC) in the National Cardiovascular Disease Registry ICD Registry and determined ICD-related in-hospital complications. Patients with LVNC or transposition of the great arteries, tetralogy of Fallot, Ebstein's anomaly, atrial septal defect, ventricular septal defect, or common ventricle were identified in the registry...
November 15, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28912186/cardiomyopathies-due-to-left-ventricular-noncompaction-mitochondrial-and-storage-diseases-and-inborn-errors-of-metabolism
#13
REVIEW
Jeffrey A Towbin, John Lynn Jefferies
The normal function of the human myocardium requires the proper generation and utilization of energy and relies on a series of complex metabolic processes to achieve this normal function. When metabolic processes fail to work properly or effectively, heart muscle dysfunction can occur with or without accompanying functional abnormalities of other organ systems, particularly skeletal muscle. These metabolic derangements can result in structural, functional, and infiltrative deficiencies of the heart muscle. Mitochondrial and enzyme defects predominate as disease-related etiologies...
September 15, 2017: Circulation Research
https://www.readbyqxmd.com/read/28911804/case-report-left-ventricular-noncompaction-cardiomyopathy-and-rasopathies
#14
Juli Ann Sublett, Carlos Enrique Prada, John Lynn Jefferies
The following is a case report of 6 patients with Noonan syndrome (NS) and/or a related RASsopathy that also have evidence of left ventricular noncompaction cardiomyopathy (LVNC). Noonan syndrome,a type of RASopathy, is an autosomal dominant disorder that is typically associated with congenital heart defects and hypertrophic cardiomyopathy. There have been minimal reports of Noonan syndrome or other RASopathy and the association of LVNC. This report promulgates 6 nonrelated cases of Noonan syndrome or unspecified RASopathy and LVNC...
September 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28901675/sudden-cardiac-death-in-isolated-right-ventricular-hypertrabeculation-noncompaction-cardiomyopathy
#15
Soad Bekheit, Boutros Karam, Farshid Daneshvar, Julie Zaidan, Rabih Tabet, Jonathan Spagnola, James Lafferty
Hypertrabeculation/noncompaction of the myocardium is a rare disorder that involves most commonly the left ventricle of the heart and it has been recognized as a distinct cardiomyopathy by the World Health Organization. However, it is extremely rare for this condition to involve exclusively the right ventricle. We report the cases of three patients who presented with ventricular tachyarrhythmia and sudden cardiac death. They were found to have isolated right ventricular hypertrabeculation/noncompaction on echocardiography...
September 12, 2017: Annals of Noninvasive Electrocardiology
https://www.readbyqxmd.com/read/28899950/prevalence-and-prognostic-significance-of-left-ventricular-noncompaction-in-patients-referred-for-cardiac-magnetic-resonance-imaging
#16
Alexander Ivanov, Devindra S Dabiesingh, Geetha P Bhumireddy, Ambreen Mohamed, Ahmed Asfour, William M Briggs, Jean Ho, Saadat A Khan, Alexandra Grossman, Igor Klem, Terrence J Sacchi, John F Heitner
BACKGROUND: Presence of prominent left ventricular trabeculation satisfying criteria for left ventricular noncompaction (LVNC) on routine cardiac magnetic resonance examination is frequently encountered; however, the clinical and prognostic significance of these findings remain elusive. This registry aimed to assess LVNC prevalence by 4 current criteria and to prospectively evaluate an association between diagnosis of LVNC by these criteria and adverse events. METHODS AND RESULTS: There were 700 patients referred for cardiac magnetic resonance: 42% were women, median age was 70 years (range, 45-71 years), mean left ventricular ejection fraction was 51% (±17%), and 32% had late gadolinium enhancement on cardiac magnetic resonance...
September 2017: Circulation. Cardiovascular Imaging
https://www.readbyqxmd.com/read/28878580/can-left-ventricular-noncompaction-be-acquired-and-can-it-disappear
#17
EDITORIAL
Paolo Angelini
No abstract text is available yet for this article.
August 2017: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28878579/left-ventricular-noncompaction-cardiomyopathy-presenting-with-heart-failure-in-a-35-year-old-man
#18
Kyriacos Papadopoulos, Petros M Petrou, Demos Michaelides
Isolated ventricular noncompaction, a rare genetic cardiomyopathy, is thought to be caused by the arrest of normal myocardial morphogenesis. It is characterized by prominent, excessive trabeculation in a ventricular wall segment and deep intertrabecular recesses perfused from the ventricular cavity. The condition can present with heart failure, systematic embolic events, and ventricular arrhythmias. Two-dimensional echocardiography is the typical diagnostic method. We report a case of heart failure in a 35-year-old man who presented with palpitations...
August 2017: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28864371/left-ventricular-noncompaction-in-older-patients
#19
Tao Tian, Kun-Qi Yang, Yi Mao, Lan-Lan Zhou, Lin-Ping Wang, Yan Xiao, Yan-Kun Yang, Yin Zhang, Xu Meng, Xian-Liang Zhou
BACKGROUND: Information on left ventricular noncompaction (LVNC) in older people is sparse. This study aimed to investigate the clinical profile of LVNC in an older cohort. MATERIALS AND METHODS: Between August 2007 and September 2015, older patients (age ≥ 60 years) who were diagnosed with LVNC using cardiovascular magnetic resonance were prospectively enrolled at our hospital. RESULTS: A total of 35 patients (male, 80%; mean age, 65 ± 5 years) were prospectively included in this study...
August 2017: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/28855170/a-wide-and-specific-spectrum-of-genetic-variants-and-genotype-phenotype-correlations-revealed-by-next-generation-sequencing-in-patients-with-left-ventricular-noncompaction
#20
Ce Wang, Yukiko Hata, Keiichi Hirono, Asami Takasaki, Sayaka Watanabe Ozawa, Hideyuki Nakaoka, Kazuyoshi Saito, Nariaki Miyao, Mako Okabe, Keijiro Ibuki, Naoki Nishida, Hideki Origasa, Xianyi Yu, Neil E Bowles, Fukiko Ichida
BACKGROUND: Left ventricular noncompaction (LVNC) has since been classified as a primary genetic cardiomyopathy, but the genetic basis is not fully evaluated. The aim of the present study was to identify the genetic spectrum using next-generation sequencing and to evaluate genotype-phenotype correlations in LVNC patients. METHODS AND RESULTS: Using next-generation sequencing, we targeted and sequenced 73 genes related to cardiomyopathy in 102 unrelated LVNC patients...
August 30, 2017: Journal of the American Heart Association
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