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left ventricular non-compaction

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
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
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
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
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
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
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
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
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
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
Robert Hastings, Carin 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 three-generation family affected by cardiomyopathy with features of autosomal dominant left-ventricular non-compaction cardiomyopathy...
September 13, 2016: Circulation. Cardiovascular Genetics
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
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
Marcelino Cortés, María Reyes Oliva, Miguel Orejas, Miguel Angel Navas, Rosa María Rábago, Maria Esther Martínez, Mikel Taibo, Julia Palfy, Manuel Rey, Jerónimo Farré
BACKGROUND/OBJECTIVES: Current diagnostic criteria for left ventricular non-compaction (LVNC) may result in over-diagnosis of the disease. We evaluate the role of speckle imaging in differential diagnosis of LVNC. METHODS AND RESULTS: We included all patients who, between January 2012 and May 2015, fulfilled currently accepted criteria for LVNC (28 patients). A control group of 28 healthy individuals and a third group of 13 patients with dilated cardiomyopathy (DCM) were created...
November 15, 2016: International Journal of Cardiology
Stefano Caselli, Diana Ferreira, Eyad Kanawati, Fernando Di Paolo, Cataldo Pisicchio, Christine Attenhofer Jost, Antonio Spataro, Rolf Jenni, Antonio Pelliccia
BACKGROUND: Recently, an unexpectedly large prevalence of Left Ventricular Non Compaction (LVNC) has been reported in athletes, raising the question of the appropriateness of current diagnostic criteria. We sought to describe prevalence and clinical characteristics of athletes with suspected LVNC in a large cohort of Olympic athletes. METHODS: Over 29months, 2501 consecutive athletes underwent a cardiac evaluation including physical examination, ECG, exercise test and echocardiography...
November 15, 2016: International Journal of Cardiology
Akira Hachiya, Noriko Motoki, Yohei Akazawa, Satoshi Matsuzaki, Keiichi Hirono, Yukiko Hata, Naoki Nishida, Fukiko Ichida, Kenichi Koike
Kawasaki disease (KD) is an acute febrile illness of childhood characterized by systemic vasculitis, especially coronary arteritis. Aortic valve regurgitation (AVR) is a relatively common complication. There have been no reports to date of heart failure and left ventricular non-compaction (LVNC) after acute KD, although the precise etiology of this condition remains unclear. A 6-month-old boy with KD was admitted to hospital. Despite high-dose i.v. gammaglobulin for dilation of the coronary artery, moderate AVR appeared, and thereafter he developed heart failure...
August 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
Daryl A Scott, Andres Hernandez-Garcia, Mahshid S Azamian, Valerie K Jordan, Bum Jun Kim, Molly Starkovich, Jinglan Zhang, Lee-Jun Wong, Sandra A Darilek, Amy M Breman, Yaping Yang, James R Lupski, Amyn K Jiwani, Bibhuti Das, Seema R Lalani, Alejandro D Iglesias, Jill A Rosenfeld, Fan Xia
BACKGROUND: The non-POU domain containing octamer-binding gene (NONO) is located on chromosome Xq13.1 and encodes a member of a small family of RNA-binding and DNA-binding proteins that perform a variety of tasks involved in RNA synthesis, transcriptional regulation and DNA repair. Loss-of-function variants in NONO have been described as a cause of intellectual disability in males but have not been described in association with congenital heart defects or cardiomyopathy. In this article, we seek to further define the phenotypic consequences of NONO depletion in human subjects...
August 22, 2016: Journal of Medical Genetics
Margaret Kapor Manus, Satyajeet Roy, Rosemarie Stag, Daniel Hyman
Prevention of sudden cardiac death in athletes requires the screening and recognition of pathologies that often remain clinically silent for years until provoked by a physiologic stressor. This can result in the manifestation of disease and even death. Left ventricular non-compaction cardiomyopathy (LVNC), newly classified as a distinct entity arising in the adult population, is a cardiomyopathy that at initial presentation can manifest as a wide spectrum of symptoms from asymptomatic to ventricular arrhythmias, systemic embolism and even sudden cardiac death...
2016: BMJ Case Reports
Ayman W El-Hattab, Fernando Scaglia
Mitochondria are found in all nucleated human cells and perform various essential functions, including the generation of cellular energy. Mitochondria are under dual genome control. Only a small fraction of their proteins are encoded by mitochondrial DNA (mtDNA), whereas more than 99% of them are encoded by nuclear DNA (nDNA). Mutations in mtDNA or mitochondria-related nDNA genes result in mitochondrial dysfunction leading to insufficient energy production required to meet the needs for various organs, particularly those with high energy requirements, including the central nervous system, skeletal and cardiac muscles, kidneys, liver, and endocrine system...
2016: Frontiers in Cardiovascular Medicine
Louise A Metherell, José Afonso Guerra-Assunção, Michael J Sternberg, Alessia David
Defective mitochondrial proteins are emerging as major contributors to human disease. Nicotinamide nucleotide transhydrogenase (NNT), a widely expressed mitochondrial protein, has a crucial role in the defence against oxidative stress. NNT variations have recently been reported in patients with familial glucocorticoid deficiency (FGD) and in patients with heart failure. Moreover, knockout animal models suggest that NNT has a major role in diabetes mellitus and obesity. In this study, we used experimental structures of bacterial transhydrogenases to generate a structural model of human NNT (H-NNT)...
October 2016: Human Mutation
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