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https://www.readbyqxmd.com/read/28510647/epicardial-cardioverter-defibrillator-implantation-in-a-4-month-old-infant-bridged-to-heart-transplantation
#1
Cristina Carro, Alberto Francesco Cereda, Giuseppe Annoni, Stefano Maria Marianeschi
Implantable cardioverter-defibrillator (ICD) is the gold standard therapy for the prevention of sudden cardiac death. Nevertheless, ICD placement in the paediatric population is still limited because of several technical difficulties. Several implantation techniques have been proposed but experience in infants with very low weight and less than 6 months is very limited. We herein describe a case of a minimally invasive ICD epicardial implantation in a 4-month-old infant weighing 5 kg. A diagnosis of arrhythmic cardiomyopathy with left ventricular non-compaction disease with ventricular tachycardia storms, QT prolongation and Wolff-Parkinson-White pattern was made...
May 16, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28510120/obscurin-variants-and-inherited-cardiomyopathies
#2
REVIEW
Steven Marston
The inherited cardiomyopathies, hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and left ventricular non-compaction (LVNC), have been frequently associated with mutations in sarcomeric proteins. In recent years, advances in DNA sequencing technology has allowed the study of the giant proteins of the sarcomere, such as titin and nebulin. Obscurin has been somewhat neglected in these studies, largely because its functional role is far from clear, although there was an isolated report in 2007 of obscurin mutations associated with HCM...
May 5, 2017: Biophysical Reviews
https://www.readbyqxmd.com/read/28503382/poly-adp-ribosylation-is-present-in-murine-sciatic-nerve-fibers-and-is-altered-in-a-charcot-marie-tooth-1e-neurodegenerative-model
#3
Laura I Lafon Hughes, Carlos J Romeo Cardeillac, Karina B Cal Castillo, Salomé C Vilchez Larrea, José R Sotelo Sosa, Gustavo A Folle Ungo, Silvia H Fernández Villamil, Alejandra E Kun González
BACKGROUND: Poly-ADP-ribose (PAR) is a polymer synthesized by poly-ADP-ribose polymerases (PARPs) as a postranslational protein modification and catabolized mainly by poly-ADP-ribose glycohydrolase (PARG). In spite of the existence of cytoplasmic PARPs and PARG, research has been focused on nuclear PARPs and PAR, demonstrating roles in the maintenance of chromatin architecture and the participation in DNA damage responses and transcriptional regulation. We have recently detected non-nuclear PAR structurally and functionally associated to the E-cadherin rich zonula adherens and the actin cytoskeleton of VERO epithelial cells...
2017: PeerJ
https://www.readbyqxmd.com/read/28458700/echocardiographic-characteristics-of-isolated-left-ventricular-noncompaction
#4
Afsoon Fazlinezhad, Mohammad Vojdanparast, Shadi Sarafan, Pouya Nezafati
BACKGROUND: Although isolated left ventricular noncompaction (ILVNC) has been described almost two decades ago, our knowledge about its diagnosis, presentation, echocardiographic features and clinical outcome is sparse. We aimed to assess the echocardiographic and clinical characteristics of ILVNC in a group of patients referred to our center. METHODS: Patients who were referred to a tertiary referral center, affiliated with Mashhad University of Medical Sciences, with primary diagnosis of dilated cardiomyopathy underwent comprehensive echocardiographic evaluation...
September 2016: ARYA Atherosclerosis
https://www.readbyqxmd.com/read/28421585/left-ventricular-non-compaction-associated-with-hypertrophic-cardiomyopathy-in-the-same-patient
#5
Lobna Laaroussi, Afef Ben Halima, Marouane Boukhris, Faouzi Addad, Salem Kachboura
No abstract text is available yet for this article.
2017: Kardiologia Polska
https://www.readbyqxmd.com/read/28381694/aortopathy-in-an-adult-with-tricuspid-atresia-and-left-ventricular-non-compaction-after-fontan-procedure
#6
Tomotaka Murakami, Yoshiki Mori, Nao Inoue, Sachie Kaneko, Yasumi Nakashima
No abstract text is available yet for this article.
April 5, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28379356/decreased-glycolytic-metabolism-in-non-compaction-cardiomyopathy-by-18f-fluoro-2-deoxyglucose-positron-emission-tomography-new-insights-into-pathophysiological-mechanisms-and-clinical-implications
#7
Marcelo Dantas Tavares de Melo, Maria Clementina Pinto Giorgi, Antonildes Nascimento Assuncao, Roberto Nery Dantas, Jose de Arimateia Araujo Filho, Jose Rodrigues Parga Filho, Ana Luiza de Souza Bierrenbach, Camila Rocon de Lima, José Soares, José Claudio Meneguetti, Charles Mady, Ludhmila Abrahão Hajjar, Roberto Kalil Filho, Edimar Alcides Bocchi, Vera Maria Cury Salemi
Aims: The pathophysiological mechanisms of left ventricular non-compaction cardiomyopathy (LVNC) remain controversial. This study performed combined 18F-fluoro-2-deoxyglucose dynamic positron emission tomography (FDG-PET) and 99mTc-sestamibi single-photon emission computed tomography (SPECT) studies to evaluate myocardial glucose metabolism and perfusion in patients with LVNC and their clinical implications. Methods and results: Thirty patients (41 ± 12 years, 53% male) with LVNC, diagnosed by cardiovascular magnetic resonance (CMR) criteria, and eight age-matched healthy controls (42 ± 12 years, 50% male) were prospectively recruited to undergo FDG-PET with measurement of the myocardial glucose uptake rate (MGU) and SPECT to investigate perfusion-metabolism patterns...
March 30, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28369760/clinical-genetic-testing-in-pediatric-cardiomyopathy-is-bigger-better
#8
Allison Chang Ouellette, Jacob Mathew, Ashok Kumar Manickaraj, George Manase, Laura Zahavich, Judith Wilson, Kristen George, Lee Benson, Sarah Bowdin, Seema Mital
For clinical genetic testing of cardiomyopathy (CMP), current guidelines do not address which gene panels to use: targeted panels specific to a CMP phenotype or expanded (panCMP) panels that include genes associated with multiple phenotypic subtypes. Our objective was to assess the clinical utility of targeted versus panCMP panel testing in pediatric CMPs. 151 pediatric patients with primary hypertrophic (n = 66), dilated (n = 64), restrictive (n = 8), or left-ventricular non-compaction (n = 13) CMP who underwent clinical genetic panel testing at a single centre were included...
March 30, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28343948/left-ventricular-non-compaction-a-cardiomyopathy-with-acceptable-prognosis-in-children
#9
Tao Tian, Yankun Yang, Lanlan Zhou, Fang Luo, Yuehua Li, Peng Fan, Xueqi Dong, Yaxin Liu, Jingang Cui, Xianliang Zhou
BACKGROUND: Data on children with left ventricular non-compaction (LVNC) is sparse. The purpose of this study was to evaluate its clinical profiles in a population of Chinese children. METHODS: From January 2010 to March 2016, consecutive Chinese children (aged <18 years) with LVNC diagnosed by cardiovascular magnetic resonance (CMR) were prospectively recruited at Fuwai Hospital. RESULTS: A total of 41 Chinese children (male: 28%; mean age: 14±4years) were included in this study...
March 1, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28338096/identification-of-cardiac-hemo-vascular-precursors-and-their-requirement-of-sphingosine-1-phosphate-receptor-1-for-heart-development
#10
Yan Hu, Brian C Belyea, Minghong Li, Joachim R Göthert, R Ariel Gomez, Maria Luisa S Sequeira-Lopez
The cardiac endothelium plays a crucial role in the development of a functional heart. However, the precise identification of the endocardial precursors and the mechanisms they require for their role in heart morphogenesis are not well understood. Using in vivo and in vitro cell fate tracing concomitant with specific cell ablation and embryonic heart transplantation studies, we identified a unique set of precursors which possess hemogenic functions and express the stem cell leukemia (SCL) gene driven by its 5' enhancer...
March 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28315121/untangling-the-biology-of-genetic-cardiomyopathies-with-pluripotent-stem-cell-disease-models
#11
REVIEW
Jan W Buikema, Sean M Wu
PURPOSE OF REVIEW: Recently, the discovery of strategies to reprogram somatic cells into induced pluripotent stem (iPS) cells has led to a major paradigm change in developmental and stem cell biology. The application of iPS cells and their cardiac progeny has opened novel directions to study cardiomyopathies at a cellular and molecular level. This review discusses approaches currently undertaken to unravel known inherited cardiomyopathies in a dish. RECENT FINDINGS: With improved efficiency for mutation correction by genome editing, human iPS cells have now provided a platform to untangle the biology of cardiomyopathies...
April 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28268080/prognostic-power-of-nt-probnp-in-left-ventricular-non-compaction-cardiomyopathy
#12
Simon F Stämpfli, Ladina Erhart, Niels Hagenbuch, Barbara E Stähli, Christiane Gruner, Matthias Greutmann, Markus Niemann, Beat A Kaufmann, Rolf Jenni, Leonhard Held, Felix C Tanner
BACKGROUND: The risk of adverse events in patients with left ventricular non-compaction cardiomyopathy (LVNC) is substantial. This study was designed to determine the prognostic value of NT-proBNP, left ventricular ejection fraction (LVEF), NYHA class, and exercise capacity in LVNC patients. METHODS: Cox regression analyses were performed for evaluating the prognostic value of NT-proBNP, LVEF, NYHA class, and exercise capacity on the occurrence of death or heart transplantation...
February 24, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28258649/the-cardiac-manifestations-of-inherited-metabolic-diseases-in-children
#13
REVIEW
David F A Lloyd, Roshni Vara, Sujeev Mathur
Inborn errors of metabolism (IEMs) are responsible for around 5% of all cases of cardiomyopathy (CM) and 15% of non-idiopathic cases. Storage disorders such as Pompe disease (glycogen storage disease type II) typically cause hypertrophic cardiomyopathy, whereas the accumulation of toxic metabolites, as seen in the organic acidurias, is associated with dilated cardiomyopathy (DCM). Mixed pathology is also possible, particularly in late presentations. IEMs such as Barth syndrome, a disorder of cardiolipin stability usually associated with DCM, have been associated with rarer types of CM such as endocardial fibroelastosis (EFE) and left ventricular non-compaction...
March 4, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28129368/evaluation-of-the-gini-coefficient-in-spatial-scan-statistics-for-detecting-irregularly-shaped-clusters
#14
Jiyu Kim, Inkyung Jung
Spatial scan statistics with circular or elliptic scanning windows are commonly used for cluster detection in various applications, such as the identification of geographical disease clusters from epidemiological data. It has been pointed out that the method may have difficulty in correctly identifying non-compact, arbitrarily shaped clusters. In this paper, we evaluated the Gini coefficient for detecting irregularly shaped clusters through a simulation study. The Gini coefficient, the use of which in spatial scan statistics was recently proposed, is a criterion measure for optimizing the maximum reported cluster size...
2017: PloS One
https://www.readbyqxmd.com/read/28110572/-cardiomyopathy-and-ion-channel-diseases-registry-the-szeged-cardiogen-registry
#15
Péter Blazsó, Kornél Kákonyi, Tamás Forster, Róbert Sepp
The Szeged cardiomyopathy and ion channel diseases registry aims to establish a representative disease-specific registry based on the recruitment of patients with different cardiomyopathies and ion channel diseases followed at the Cardiology Center, University of Szeged. The registry collects patient data on the main forms of primary cardiomyopathies (hypertrophic, dilated, restrictive, arrhythmogenic right ventricular, left ventricular non-compact, tako-tsubo cardiomyopathy) and ion channel diseases (long QT syndrome, short QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia)...
January 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/28104484/sick-sinus-syndrome-with-hcn4-mutations-shows-early-onset-and-frequent-association-with-atrial-fibrillation-and-left-ventricular-noncompaction
#16
Taisuke Ishikawa, Seiko Ohno, Takashi Murakami, Kentaro Yoshida, Hiroyuki Mishima, Tetsuya Fukuoka, Hiroki Kimoto, Risa Sakamoto, Takafumi Ohkusa, Takeshi Aiba, Akihiko Nogami, Naokata Sumitomo, Wataru Shimizu, Koh-Ichiro Yoshiura, Hitoshi Horigome, Minoru Horie, Naomasa Makita
BACKGROUND: Familial sick sinus syndrome (SSS) is often attributable to mutations in genes encoding the cardiac Na channel SCN5A and pacemaker channel HCN4. We previously found that SSS with SCN5A mutations shows early onset of manifestations and male predominance. Despite recent reports on the complications of atrial fibrillation (AF) and left ventricular noncompaction (LVNC) in patients with SSS caused by HCN4 mutations, their overall clinical spectrum remains unknown. OBJECTIVE: The purpose of this study was to investigate the clinical and demographic features of SSS patients carrying HCN4 mutations...
May 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28102598/novel-findings-of-left-ventricular-non-compaction-cardiomyopathy-microform-cleft-lip-and-poor-vision-in-patient-with-smc1a-associated-cornelia-de-lange-syndrome
#17
Tara L Wenger, Penny Chow, Stephanie C Randle, Anna Rosen, Craig Birgfeld, Joanna Wrede, Patrick Javid, Darcy King, Vivian Manh, Anne V Hing, Erin Albers
Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with SMC1A-associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28076895/implantation-of-left-ventricular-assist-device-in-a-patient-with-left-ventricular-non-compaction
#18
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.
February 2017: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/28076777/antagonistic-functions-of-mbp-and-cnp-establish-cytosolic-channels-in-cns-myelin
#19
Nicolas Snaidero, Caroline Velte, Matti Myllykoski, Arne Raasakka, Alexander Ignatev, Hauke B Werner, Michelle S Erwig, Wiebke Möbius, Petri Kursula, Klaus-Armin Nave, Mikael Simons
The myelin sheath is a multilamellar plasma membrane extension of highly specialized glial cells laid down in regularly spaced segments along axons. Recent studies indicate that myelin is metabolically active and capable of communicating with the underlying axon. To be functionally connected to the neuron, oligodendrocytes maintain non-compacted myelin as cytoplasmic nanochannels. Here, we used high-pressure freezing for electron microscopy to study these cytoplasmic regions within myelin close to their native state...
January 10, 2017: Cell Reports
https://www.readbyqxmd.com/read/28064059/par1-activation-affects-the-neurotrophic-properties-of-schwann-cells
#20
Elena Pompili, Cinzia Fabrizi, Francesca Somma, Virginia Correani, Bruno Maras, Maria Eugenia Schininà, Viviana Ciraci, Marco Artico, Francesco Fornai, Lorenzo Fumagalli
Protease-activated receptor-1 (PAR1) is the prototypic member of a family of four G-protein-coupled receptors that signal in response to extracellular proteases. In the peripheral nervous system, the expression and/or the role of PARs are still poorly investigated. High PAR1 mRNA expression was found in the rat dorsal root ganglia and the signal intensity of PAR1 mRNA increased in response to sciatic nerve transection. In the sciatic nerve, functional PAR1 receptor was reported at the level of non-compacted Schwann cell myelin microvilli of the nodes of Ranvier...
January 4, 2017: Molecular and Cellular Neurosciences
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