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https://www.readbyqxmd.com/read/27909566/prenatal-diagnosis-of-a-terminal-chromosome-1-q42-q44-deletion-original-case-report-and-review-of-the-literature
#1
C Van Linthout, V Emonard, J S Gatot, X Capelle, F Kridelka, P Emonts, M C Segghaye
Terminal chromosome 1q deletion is rarely reported but causes typical malformations that have been well described in childhood. Clinical features include facial dysmorphy, growth and/or psychomotor retardation, brain agenesis or hypoplasia of the corpus callosum, epilepsy and occasional urogenital or cardiac malformations. The diagnosis of this condition is usually made at birth. The rare cases of antenatal diagnosis were based on microcephaly and growth retardation. In the present case, the foetus presented with an hypoplasia of the corpus callosum, a dysmorphic profile and a single umbilical artery...
June 27, 2016: Facts, Views & Vision in ObGyn
https://www.readbyqxmd.com/read/27894062/echocardiographic-comparison-between-left-ventricular-non-compaction-and-hypertrophic-cardiomyopathy
#2
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/27890738/ventricular-arrhythmias-associated-with-left-ventricular-non-compaction-electrophysiological-characteristics-mapping-and-ablation
#3
Daniele Muser, Jackson J Liang, Walter R T Witschey, Rajeev K Pathak, Simon Castro, Silvia Magnani, Erica S Zado, Fermin C Garcia, Benoit Desjardins, David J Callans, David S Frankel, Francis E Marchlinski, Pasquale Santangeli
BACKGROUND: Left ventricular non-compaction (LVNC) is a primary cardiomyopathy that can present with recurrent ventricular arrhythmias (VAs). Data on the benefit of catheter ablation (CA) of VAs in LVNC are lacking. OBJECTIVES: To describe the electrophysiologic features and outcomes of CA of VAs in LVNC. METHODS: The cohort consisted of 9 patients (age 42±15 years) with diagnosis of LVNC based upon established criteria and VA (VT in 3 and frequent PVCs in 6) despite treatment with a mean of 2±1 antiarrhythmic drugs (AADs)...
November 23, 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/27858040/morphology-dictated-heterogeneous-dynamics-in-two-dimensional-aggregates
#4
Tamoghna Das, T Lookman, M M Bandi
Particulate aggregates occur in a variety of non-equilibrium steady-state morphologies ranging from finite-size compact crystalline structures to non-compact string-like conformations. This diversity is due to the competition between pair-wise short range attraction and long range repulsion between particles. We identify different microscopic mechanisms in action by following the simulated particle trajectories for different morphologies in two dimensions at a fixed density and temperature. In particular, we show that the compact clusters are governed by symmetric caging of particles by their nearest neighbors while sidewise asymmetric binding of particles leads to non-compact aggregates...
November 18, 2016: Soft Matter
https://www.readbyqxmd.com/read/27799064/mipep-recessive-variants-cause-a-syndrome-of-left-ventricular-non-compaction-hypotonia-and-infantile-death
#5
Mohammad K Eldomery, Zeynep C Akdemir, F-Nora Vögtle, Wu-Lin Charng, Patrycja Mulica, Jill A Rosenfeld, Tomasz Gambin, Shen Gu, Lindsay C Burrage, Aisha Al Shamsi, Samantha Penney, Shalini N Jhangiani, Holly H Zimmerman, Donna M Muzny, Xia Wang, Jia Tang, Ravi Medikonda, Prasanna V Ramachandran, Lee-Jun Wong, Eric Boerwinkle, Richard A Gibbs, Christine M Eng, Seema R Lalani, Jozef Hertecant, Richard J Rodenburg, Omar A Abdul-Rahman, Yaping Yang, Fan Xia, Meng C Wang, James R Lupski, Chris Meisinger, V Reid Sutton
BACKGROUND: Mitochondrial presequence proteases perform fundamental functions as they process about 70 % of all mitochondrial preproteins that are encoded in the nucleus and imported posttranslationally. The mitochondrial intermediate presequence protease MIP/Oct1, which carries out precursor processing, has not yet been established to have a role in human disease. METHODS: Whole exome sequencing was performed on four unrelated probands with left ventricular non-compaction (LVNC), developmental delay (DD), seizures, and severe hypotonia...
November 1, 2016: Genome Medicine
https://www.readbyqxmd.com/read/27754701/left-ventricular-non-compaction-cardiomyopathy-incidental-diagnosis-after-st-elevation-myocardial-infarction
#6
Jackson J Liang, Eric R Fenstad, Christopher D Janish, Lawrence J Sinak
Left ventricular non-compaction cardiomyopathy is a rare congenital cardiomyopathy, which usually presents early in life but may also manifest into adulthood. We present the case of an elderly woman with left ventricular non-compaction cardiomyopathy, which was discovered incidentally following an ST-elevation myocardial infarction.
October 18, 2016: Acute Cardiac Care
https://www.readbyqxmd.com/read/27751299/hypoplastic-right-heart-syndrome-absent-pulmonary-valve-and-non-compacted-left-ventricle-in-an-adult
#7
Jagdish C Mohan, Vishwas Mohan, Madhu Shukla, Arvind Sethi
Hypoplastic right heart syndrome is a rare cyanotic congenital heart disease with under-development of the right ventricle, tricuspid, and pulmonary valves leading to right-to-left shunting of the blood through inter-atrial septal defect. Perinatal mortality is high with very few patients surviving to adulthood without corrective surgery. This report describes a 26-year-old young woman, who had recurrent abortions and stillbirths and detected to have marked cyanosis with hypoplastic right heart, sub-arterial ventricular septal defect, absent pulmonary valve, non-compaction of the left ventricle, and bicuspid aortic valve with aortic regurgitation...
September 2016: Indian Heart Journal
https://www.readbyqxmd.com/read/27721218/not-for-adults-only-mitraclip-use-in-a-paediatric-patient
#8
Denise C Joffe, Thomas K Jones, Mark Reisman, Elizabeth Perpetua, Yuk Law, Andreas Schuler, G Burkhard Mackensen
We present the primary report of a paediatric patient who had placement of the MitraClip device for severe functional mitral regurgitation. The patient was a 14-year-old boy with symptomatic end-stage non-compaction type cardiomyopathy secondary to a mitochondrial cytopathy. He had severe mitral regurgitation, tricuspid valve regurgitation, a severely dilated LV with apical non-compaction, severe LV dysfunction and severe pulmonary hypertension. Despite optimal medical therapy he developed progressive symptoms of congestive heart failure and he was not a candidate for an assist device or cardiac transplantation...
October 10, 2016: EuroIntervention
https://www.readbyqxmd.com/read/27717935/clinical-examples-of-left-ventricular-non-compaction-in-adults
#9
Natalia Y Osovska, Natalia V Kuzminova
INTRODUCTION: isolated left ventricular non-compaction (LVNC) is a heart disease with rather distinct morphologic and clinical manifestations. Available in the literature information about LVNC considering multiple left ventricle abnormal chords (LVAC) as one of its criterion motivated us to review the results obtained in the study of young patients with this pathology. The aim of the research was to demonstrate different clinical variants of left ventricular non-compaction course in adult patients and to clarify some pathogenetic aspects of this pathology...
2016: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/27695028/non-compaction-can-be-congenital-muscular-or-compensatory
#10
J Finsterer, S Zarrouk-Mahjoub
No abstract text is available yet for this article.
2016: Acta Cardiologica
https://www.readbyqxmd.com/read/27686517/a-case-of-recent-myocardial-infarction-with-cardiac-failure
#11
Anishkumar Nair, Chakanalil Govindan Sajeev, Kader Muneer
CLINICAL INTRODUCTION: A 50-year-old hypertensive smoker presented with a typical angina of 2 days duration. An urgent ECG revealed extensive anterior wall myocardial infarction. In view of the delayed presentation, the patient was conservatively managed with heparin. In-hospital echocardiogram showed akinesia of entire left anterior descending artery (LAD) territory with severe left ventricular (LV) dysfunction. He was discharged with a plan for early coronary intervention. However, he presented a fortnight later with acute pulmonary oedema...
September 29, 2016: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/27666911/biventricular-non-compaction-cardiomyopathy
#12
S B Gupta, Enrica D'Souza
Left ventricular non-compaction (spongy myocardium) is one of the most misclassified cardiomyopathies. It is characterised by an excessively prominent trabecular meshwork of myocardium and deep intertrabecular myocardium due to an arrest in the compaction process of the myocardial fibres. It could be isolated i.e. without any other structural heart defects or associated with congenital heart defects. The clinical manifestations are variable heart failure, arrhythmia, thromboembolic phenomena depending on extent of non-compaction of cardiac segment...
December 2015: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27659478/left-ventricular-non-compaction-and-idiopathic-dilated-cardiomyopathy-the-significant-diagnostic-value-of-longitudinal-strain
#13
Fanny Tarando, Damien Coisne, Elena Galli, Chloé Rousseau, Frédéric Viera, Christian Bosseau, Gilbert Habib, Mathieu Lederlin, Frédéric Schnell, Erwan Donal
Left ventricular non-compaction (LV NC) is characterized by abnormal trabeculations that are mainly at the LV apex. Distinction between LV NC and non-specific dilated cardiomyopathies (DCMs) remains often challenging. We sought to find additive tools comparing the longitudinal strain characteristics of LVNC versus idiopathic DCM in a cohort of patients. 48 cases of LVNC (derivation cohort) were compared with 45 cases of DCM. Global and regional multi-layer (sub-endocardial, mid-wall, and sub-epicardial) LV longitudinal strain analysis was performed...
September 22, 2016: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/27646203/a-novel-ryr2-loss-of-function-mutation-i4855m-is-associated-with-left-ventricular-non-compaction-and-atypical-catecholaminergic-polymorphic-ventricular-tachycardia
#14
Thomas M Roston, Wenting Guo, Andrew D Krahn, Ruiwu Wang, Filip Van Petegem, Shubhayan Sanatani, S R Wayne Chen, Anna Lehman
BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an ion channelopathy usually caused by gain-of-function mutations ryanodine receptor type-2 (RyR2). Left ventricular non-compaction (LVNC) is an often genetic cardiomyopathy. A rare LVNC-CPVT overlap syndrome may be caused by exon 3 deletion in RyR2. We sought to characterize the phenotypic spectrum and molecular basis of a novel RyR2 mutation identified in a family with both conditions. METHODS: Several members of an affected family underwent clinical and genetic assessments...
September 8, 2016: Journal of Electrocardiology
https://www.readbyqxmd.com/read/27642787/ipsc-derived-cardiomyocytes-reveal-abnormal-tgf-%C3%AE-signalling-in-left-ventricular-non-compaction-cardiomyopathy
#15
Kazuki Kodo, Sang-Ging Ong, Fereshteh Jahanbani, Vittavat Termglinchan, Keiichi Hirono, Kolsoum InanlooRahatloo, Antje D Ebert, Praveen Shukla, Oscar J Abilez, Jared M Churko, Ioannis Karakikes, Gwanghyun Jung, Fukiko Ichida, Sean M Wu, Michael P Snyder, Daniel Bernstein, Joseph C Wu
Left ventricular non-compaction (LVNC) is the third most prevalent cardiomyopathy in children and its pathogenesis has been associated with the developmental defect of the embryonic myocardium. We show that patient-specific induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) generated from LVNC patients carrying a mutation in the cardiac transcription factor TBX20 recapitulate a key aspect of the pathological phenotype at the single-cell level and this was associated with perturbed transforming growth factor beta (TGF-β) signalling...
October 2016: Nature Cell Biology
https://www.readbyqxmd.com/read/27640096/compacting-knowledge-in-left-ventricular-non-compaction
#16
Alexandra Toste, Nuno Cardim
No abstract text is available yet for this article.
October 2016: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/27625337/combination-of-whole-genome-sequencing-linkage-and-functional-studies-implicates-a-missense-mutation-in-titin-as-a-cause-of-autosomal-dominant-cardiomyopathy-with-features-of-left-ventricular-noncompaction
#17
Robert Hastings, Carin P de Villiers, Charlotte Hooper, Liz Ormondroyd, Alistair Pagnamenta, Stefano Lise, Silvia Salatino, Samantha J L Knight, Jenny C Taylor, Kate L Thomson, Linda Arnold, Spyros D Chatziefthimiou, Petr V Konarev, Matthias Wilmanns, Elisabeth Ehler, Andrea Ghisleni, Mathias Gautel, Edward Blair, Hugh Watkins, Katja Gehmlich
BACKGROUND: High throughput next-generation sequencing techniques have made whole genome sequencing accessible in clinical practice; however, the abundance of variation in the human genomes makes the identification of a disease-causing mutation on a background of benign rare variants challenging. METHODS AND RESULTS: Here we combine whole genome sequencing with linkage analysis in a 3-generation family affected by cardiomyopathy with features of autosomal dominant left ventricular noncompaction cardiomyopathy...
October 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27619839/vegf-loaded-microsphere-patch-for-local-protein-delivery-to-the-ischemic-heart
#18
Jonathan Rodness, Anton Mihic, Yasuo Miyagi, Jun Wu, Richard D Weisel, Ren-Ke Li
BACKGROUND: Revascularization of the heart after myocardial infarction (MI) using growth factors delivered by hydrogel-based microspheres represents a promising therapeutic approach for cardiac regeneration. Microspheres have tuneable degradation properties and support the prolonged release of soluble factors. Cardiac patches provide mechanical restraint, preventing dilatation associated with ventricular remodelling. METHODS: We combined these approaches and produced a compacted calcium-alginate microsphere patch, restrained by a chitosan sheet, to deliver vascular endothelial growth factor (VEGF) to the heart after myocardial injury in rats...
November 2016: Acta Biomaterialia
https://www.readbyqxmd.com/read/27617263/the-role-of-genetic-testing-in-the-identification-of-young-athletes-with-inherited-primitive-cardiac-disorders-at-risk-of-exercise-sudden-death
#19
REVIEW
Francesco Danilo Tiziano, Vincenzo Palmieri, Maurizio Genuardi, Paolo Zeppilli
Although relatively rare, inherited primitive cardiac disorders (IPCDs) in athletes have a deep social impact since they often present as sudden cardiac death (SCD) of young and otherwise healthy persons. The diagnosis of these conditions is likely underestimated due to the lack of shared clinical criteria and to the existence of several borderline clinical pictures. We will focus on the clinical and molecular diagnosis of the most common IPCDs, namely hypertrophic cardiomyopathies, long QT syndrome, arrhythmogenic right ventricular cardiomyopathy, and left ventricular non-compaction...
2016: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/27580238/14-3-3epsilon-controls-multiple-developmental-processes-in-the-mouse-heart
#20
Adriana C Gittenberger-de Groot, Tamara Hoppenbrouwers, Lucile Miquerol, Yasuhiro Kosaka, Robert E Poelmann, Lambertus J Wisse, H Joseph Yost, Monique R M Jongbloed, Marco C Deruiter, Luca Brunelli
BACKGROUND: 14-3-3ε plays an important role in the maturation of the compact ventricular myocardium by modulating the cardiomyocyte cell cycle via p27(kip1) . However, additional cardiac defects are possible given the ubiquitous expression pattern of this protein. RESULTS: Germ line deletion of 14-3-3ε led to malalignment of both the outflow tract (OFT) and atrioventricular (AV) cushions, with resulting tricuspid stenosis and atresia, mitral valve abnormalities, and perimembranous ventricular septal defects (VSDs)...
November 2016: Developmental Dynamics: An Official Publication of the American Association of Anatomists
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