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Embryology heart cardiac

W Gerald Rainer, David J Bailey, Harris W Hollis
Cardiac lipomas are rare and usually present as benign, encapsulated masses outside the heart; however, they can also be found within the atria. No single theory-including molecular genetic mutation-adequately explains why this occurs. Extensive career experience and broadened knowledge in embryology and cardiac physiology have helped us to develop a hypothesis based on invagination of extracardiac tumors. This report describes a vexing case of a giant right atrial lipoma, from 1985, in which the diagnosis was made incidentally during management of a patient's acute limb ischemia...
October 2016: Texas Heart Institute Journal
Maurizio Pesce, Elisa Messina, Isotta Chimenti, Antonio Paolo Beltrami
The life-long story of the heart starts concomitantly with primary differentiation events occurring in multipotent progenitors located in the so called heart tube. This initially tubular structure starts a looping process which leads to formation of the final four chambered heart with a primary contribution of geometric and position-associated cell sensing. While this establishes the correct patterning of the final cardiac structure, it also feedbacks to fundamental cellular machineries controlling proliferation and differentiation, thus ensuring a coordinated restriction of cell growth and a myocyte terminal differentiation...
October 13, 2016: Stem Cells and Development
Robert H Anderson, Shumpei Mori, Diane E Spicer, Nigel A Brown, Timothy J Mohun
It is customary, at the current time, to consider many, if not most, of the lesions involving the ventricular outflow tract in terms of conotruncal malformations. This reflects the introduction, in the early 1940s, of the terms conus and truncus to describe the components of the developing outflow tract. The definitive outflow tracts in the postnatal heart, however, possess three, rather than two, components. These are the intrapericardial arterial trunks, the arterial roots, and the subvalvar ventricular outflow tracts...
September 2016: World Journal for Pediatric & Congenital Heart Surgery
Nneka Schwimmer-Okike, Johannes Niebuhr, Grit Gesine Ruth Schramek, Stefan Frantz, Heike Kielstein
The Chiari network is an embryological remnant found in the right atrium, mostly without any significant pathophysiological consequences. However, several cardiac associations are reported in the literature including supraventricular tachyarrhythmias. We present a case of a 96-year-old body donor with a stroke episode and intermittent atrial fibrillations. The dissection of the heart revealed the presence of an immense Chiari network with a large central thrombus. The role of a Chiari network in the pathogenesis of stroke and pulmonary embolism is discussed...
2016: Case Reports in Cardiology
Benjamin Kloesel, James A DiNardo, Simon C Body
Congenital heart disease is diagnosed in 0.4% to 5% of live births and presents unique challenges to the pediatric anesthesiologist. Furthermore, advances in surgical management have led to improved survival of those patients, and many adult anesthesiologists now frequently take care of adolescents and adults who have previously undergone surgery to correct or palliate congenital heart lesions. Knowledge of abnormal heart development on the molecular and genetic level extends and improves the anesthesiologist's understanding of congenital heart disease...
September 2016: Anesthesia and Analgesia
Cristina E Molina, Jordi Heijman, Dobromir Dobrev
A wide range of ion channels, transporters, signaling pathways and tissue structure at a microscopic and macroscopic scale regulate the electrophysiological activity of the heart. Each region of the heart has optimised these properties based on its specific role during the cardiac cycle, leading to well-established differences in electrophysiology, Ca(2+) handling and tissue structure between atria and ventricles and between different layers of the ventricular wall. Similarly, the right ventricle (RV) and left ventricle (LV) have different embryological, structural, metabolic and electrophysiological features, but whether interventricular differences promote differential remodeling leading to arrhythmias is not well understood...
May 2016: Arrhythmia & Electrophysiology Review
Mahshid Azamian, Seema R Lalani
Congenital cardiovascular malformations are the most common birth defects, with a complex multifactorial etiology. Genetic factors play an important role, illuminated by numerous cytogenetically visible abnormalities, as well as submicroscopic genomic imbalances affecting critical genomic regions in the affected individuals. Study of rare families with Mendelian forms, as well as emerging next-generation sequencing technologies have uncovered a multitude of genes relevant for human congenital cardiac diseases...
May 2016: Molecular Syndromology
Gabriella Captur, Carolyn Y Ho, Saskia Schlossarek, Janet Kerwin, Mariana Mirabel, Robert Wilson, Stefania Rosmini, Chinwe Obianyo, Patricia Reant, Paul Bassett, Andrew C Cook, Susan Lindsay, William J McKenna, Kevin Mills, Perry M Elliott, Timothy J Mohun, Lucie Carrier, James C Moon
Hypertrophic cardiomyopathy (HCM) is caused by mutations in sarcomeric proteins, the commonest being MYBPC3 encoding myosin-binding protein C. It is characterised by left ventricular hypertrophy but there is an important pre-hypertrophic phenotype with features including crypts, abnormal mitral leaflets and trabeculae. We investigated these during mouse cardiac development using high-resolution episcopic microscopy. In embryonic hearts from wildtype, homozygous (HO) and heterozygous (HET) Mybpc3-targeted knock-out (KO) mice we show that crypts (one or two) are a normal part of wildtype development but they almost all resolve by birth...
2016: Scientific Reports
Nina Øyen, Lars J Diaz, Elisabeth Leirgul, Heather A Boyd, James Priest, Elisabeth R Mathiesen, Thomas Quertermous, Jan Wohlfahrt, Mads Melbye
BACKGROUND: Maternal diabetes mellitus is associated with an increased risk of offspring congenital heart defects (CHD); however, the causal mechanism is poorly understood. We further investigated this association in a Danish nationwide cohort. METHODS AND RESULTS: In a national cohort study, we identified 2 025 727 persons born from 1978 to 2011; among them were 7296 (0.36%) persons exposed to maternal pregestational diabetes mellitus. Pregestational diabetes mellitus was identified by using the National Patient Register and individual-level information on all prescriptions filled in Danish pharmacies...
June 7, 2016: Circulation
Fei Lu, Adam D Langenbacher, Jau-Nian Chen
Cardiac transcription factors orchestrate the complex cellular and molecular events required to produce a functioning heart. Misregulation of the cardiac transcription program leads to embryonic developmental defects and is associated with human congenital heart diseases. Recent studies have expanded our understanding of the regulation of cardiac gene expression at an additional layer, involving the coordination of epigenetic and transcriptional regulators. In this review, we highlight and discuss discoveries made possible by the genetic and embryological tools available in the zebrafish model organism, with a focus on the novel functions of cardiac transcription factors and epigenetic and transcriptional regulatory proteins during cardiogenesis...
April 9, 2016: Journal of Cardiovascular Development and Disease
Ralston M Barnes, Ian S Harris, Eric J Jaehnig, Kimberly Sauls, Tanvi Sinha, Anabel Rojas, William Schachterle, David J McCulley, Russell A Norris, Brian L Black
Congenital heart defects are the most common birth defects in humans, and those that affect the proper alignment of the outflow tracts and septation of the ventricles are a highly significant cause of morbidity and mortality in infants. A late differentiating population of cardiac progenitors, referred to as the anterior second heart field (AHF), gives rise to the outflow tract and the majority of the right ventricle and provides an embryological context for understanding cardiac outflow tract alignment and membranous ventricular septal defects...
March 1, 2016: Development
Diane E Spicer, Deborah J Henderson, Bill Chaudhry, Timothy J Mohun, Robert H Anderson
At present, there is significant interest in the morphology of the coronary arteries, not least due to the increasingly well-recognised association between anomalous origin of the arteries and sudden cardiac death. Much has also been learnt over the last decade regarding the embryology of the arteries. In this review, therefore, we provide a brief introduction into the recent findings regarding their development. In particular, we emphasise that new evidence, derived using the developing murine heart, points to the arterial stems growing out from the adjacent sinuses of the aortic root, rather than the arteries growing in, as is currently assumed...
December 2015: Cardiology in the Young
Simon Nicolay, Rodrigo A Salgado, Bharati Shivalkar, Paul L Van Herck, Christiaan Vrints, Paul M Parizel
UNLABELLED: In the last decade, cardiac computed tomography (CT) has gained mainstream acceptance for the noninvasive exclusion of significant coronary disease in a selected population. Improvements in electrocardiogram (ECG)-triggered imaging techniques also allow, by extension, a proper evaluation of the complete heart anatomy. Given the increasing worldwide clinical implementation of cardiac CT for coronary artery evaluation, radiologists can, incidentally, be confronted with unfamiliar and previously unsuspected non-coronary cardiac pathologies, including congenital morphological defects...
February 2016: Insights Into Imaging
Brian Morray
Ebstein's anomaly of the tricuspid valve (TV) refers to an embryological derangement of TV formation causing tethering of the septal and posterior leaflets of the valve to the underlying myocardium and apical displacement of the effective valve annulus, resulting in significant TV insufficiency and dilation of the right heart structures. The pathological abnormalities of the valve can vary significantly, resulting in a wide range of clinical presentations. Fetal diagnosis and neonatal presentations of the disease are typically the most severe and are associated with the highest mortality rates...
March 2016: Seminars in Cardiothoracic and Vascular Anesthesia
Milena B Furtado, Hieu T Nim, Jodee A Gould, Mauro W Costa, Nadia A Rosenthal, Sarah E Boyd
Heart failure is one of the leading causes of death worldwide [1-4]. Current therapeutic strategies are inefficient and cannot cure this chronic and debilitating condition [5]. Ultimately, heart transplants are required for patient survival, but donor organs are scarce in availability and only prolong the life-span of patients for a limited time. Fibrosis is one of the main pathological features of heart failure [6,7], caused by inappropriate stimulation of fibroblasts and excessive extracellular matrix production...
December 2014: Genomics Data
Gabriella Captur, Petros Syrris, Chinwe Obianyo, Giuseppe Limongelli, James C Moon
Adult and pediatric cardiologists are familiar with variation in cardiac trabeculation. Abnormal trabeculation is a key feature of left ventricular noncompaction, but it is also common in congenital heart diseases and in cardiomyopathies (dilated and hypertrophied). Trabeculae might be a measurable phenotypic marker that will allow insights into how cardiomyopathy and congenital heart disease arise and develop. This will require the linking together of clinical and preclinical information (such as embryology and genetics), with new analysis methods for trabecular quantitation...
November 2015: Canadian Journal of Cardiology
Yury Rapoport, Charles J Fox, Parth Khade, Mary E Fox, Richard D Urman, Alan David Kaye
Dextrocardia, a term used to describe all varieties of developmental malformations resulting in the positioning of the heart in the right hemithorax, is linked to a number of highly significant cardiac disorders. Current estimates vary tremendously in the literature. Only about 10 % of patients with diagnosed dextroversion show no substantial cardiac pathology; however, the incidence of congenital heart defects associated with dextrocardia is close to 100 %. The majority of studies previously reported include dextrocardia associated with situs inversus and cases of Kartagener syndrome...
October 2015: Journal of Anesthesia
M C Rusu, A D Vrapciu, S Hostiuc, C S Hariga
New data on adult stem cells (ASCs) are continuously added by research for use in regenerative medicine. However organ-specific ASC markers are incompletely explored. It was demonstrated that in non-cardiac brown adipose tissue (BAT) CD133+ cells differentiate in cardiomyocytes, and such BAT-derived cells induce bone marrow-derived cells into cardiomyocytes, thus being a promising source for cardiac stem cell therapy. During embryogenesis the subepicardial fat derives from BAT. Although it was not specifically investigated in human adult or aged hearts, it is actually known that metabolically active BAT can be found in many adult humans, is related to antiobesity effects, and it may derive from stem/progenitor cells...
August 2015: Medical Hypotheses
Umberto G Rossi, Paolo Rigamonti, Pierluca Torcia, Giovanni Mauri, Francesca Brunini, Michele Rossi, Maurizio Gallieni, Maurizio Cariati
Congenital anomalies of superior vena cava (SVC) are generally discovered incidentally during central venous catheter (CVC) insertion, pacemaker electrode placement, and cardiopulmonary bypass surgery. Persistent left SVC (PLSVC) is a rare (0.3%) anomaly in healthy subjects, usually asymptomatic, but when present and undiagnosed, it may be associated with difficulties and complications of CVC placement. In individuals with congenital heart anomalies, its prevalence may be up to 10 times higher than in the general population...
July 2015: Journal of Vascular Access
Loren Garrison Morgan, Jonathan Gardner, Joe Calkins
Persistent left superior vena cava (PLSVC) is the most common thoracic venous anomaly and is a persistent congenital remnant of the vena caval system from early cardiac development. Patients with congenital anomalous venous return are at increased risk of developing various cardiac arrhythmias, due to derangement of embryologic conductive tissue during the early development of the heart. Previously this discovery was commonly made during the placement of pacemakers or defibrillators for the treatment of the arrhythmias, when the operator encountered difficulty with proper lead deployment...
2015: Case Reports in Medicine
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