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Left ventricular non compaction

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https://www.readbyqxmd.com/read/28110572/-cardiomyopathy-and-ion-channel-diseases-registry-the-szeged-cardiogen-registry
#1
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
#2
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...
January 17, 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
#3
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
#4
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/28013292/mib2-variants-altering-notch-signalling-result-in-left-ventricle-hypertrabeculation-non-compaction-and-are-associated-with-m%C3%A3-n%C3%A3-trier-like-gastropathy
#5
Pasquale Piccolo, Sergio Attanasio, Ilaria Secco, Riccardo Sangermano, Caterina Strisciuglio, Giuseppe Limongelli, Erasmo Miele, Margherita Mutarelli, Sandro Banfi, Vincenzo Nigro, Tirso Pons, Alfonso Valencia, Lorena Zentilin, Severo Campione, Gerardo Nardone, Ty C Lynnes, Patricia B S Celestino-Soper, Katherine G Spoonamore, Francesco P D'Armiento, Mauro Giacca, Annamaria Staiano, Matteo Vatta, Chiara Collesi, Nicola Brunetti-Pierri
We performed whole exome sequencing in individuals from a family with autosomal dominant gastropathy resembling Ménétrier disease, a premalignant gastric disorder with epithelial hyperplasia and enhanced EGFR signalling. Ménétrier disease is believed to be an acquired disorder, but its aetiology is unknown. In affected members, we found a missense p.V742G variant in MIB2, a gene regulating NOTCH signalling that has not been previously linked to human diseases. The variant segregated with the disease in the pedigree, affected a highly conserved amino acid residue, and was predicted to be deleterious although it was found with a low frequency in control individuals...
December 23, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27930960/loss-of-rearranged-l-myc-fusion-rlf-results-in-defects-in-heart-development-in-the-mouse
#6
L M Bourke, G Del Monte-Nieto, J E Outhwaite, V Bharti, P M Pollock, D G Simmons, A Adam, S S J Hur, G J Maghzal, E Whitelaw, R Stocker, C M Suter, R P Harvey, S K Harten
Recently we reported that Rearranged L-Myc Fusion, RLF, acts as an epigenetic modifier maintaining low levels of DNA methylation at CpG island shores and enhancers across the genome. Here we focus on the phenotype of Rlf null mutant mice generated via an ENU mutagenesis screen, to identify genes required for epigenetic regulation. RLF is expressed in a range of fetal mouse tissues, including the fetal heart. Comprehensive timed-mating studies are consistent with our previously reported findings that Rlf homozygous mutant mice rarely survive to adulthood, with the majority dying shortly after birth...
December 5, 2016: Differentiation; Research in Biological Diversity
https://www.readbyqxmd.com/read/27909566/prenatal-diagnosis-of-a-terminal-chromosome-1-q42-q44-deletion-original-case-report-and-review-of-the-literature
#7
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
#8
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...
February 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/27890738/ventricular-arrhythmias-associated-with-left-ventricular-noncompaction-electrophysiologic-characteristics-mapping-and-ablation
#9
Daniele Muser, Jackson J Liang, Walter Rt 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 noncompaction (LVNC) is a primary cardiomyopathy that can present with recurrent ventricular arrhythmias (VAs). Data on the benefit of catheter ablation of VAs in LVNC are lacking. OBJECTIVE: The purpose of this study was to describe the electrophysiologic features and outcomes of catheter ablation of VAs in LVNC. METHODS: The cohort consisted of 9 patients (age 42 ± 15 years) with diagnosis of LVNC based on established criteria and VA (ventricular tachycardia [VT] in 3 and frequent premature ventricular contractions (PVCs) in 6) despite treatment with a mean of 2 ± 1 antiarrhythmic drugs...
February 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/27799064/mipep-recessive-variants-cause-a-syndrome-of-left-ventricular-non-compaction-hypotonia-and-infantile-death
#10
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
#11
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.
March 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
#12
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
#13
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
#14
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/27686517/a-case-of-recent-myocardial-infarction-with-cardiac-failure
#15
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
#16
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
#17
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...
January 2017: 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
#18
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
#19
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
#20
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
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