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Cardiac embryology

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
Prakashchandra Shetty, Satheesha B Nayak, Rajesh Thangarajan, Melanie Rose D'Souza
Persistence of jugulocephalic vein is one of the extremely rare variations of the cephalic vein. Knowledge of such a variation is of utmost importance to orthopedic surgeons while treating the fractures of the clavicle, head and neck surgeons, during surgery of the lower part of neck, for cardiothoracic surgeons and radiologists during catheterization and cardiac device placement. We report the persistent jugulocephalic vein in an adult male cadaver, observed during the routine dissection classes. The right cephalic vein ascended upwards, superficial to the lateral part of the clavicle and terminated into the external jugular vein...
September 2016: Anatomy & Cell Biology
Wei Wang, Yun Zhu, Jianguang Yi, Wei Cheng
Remodeling of atrial electrophysiology and structure is the primary feature of atrial fibrillation (AF). Evidence suggests that abnormalities in the expression levels of embryological cardiovascular development‑associated transcription factors, including Nkx2.5, are crucial for the development of AF. Rat atrial myocardial cells (AMCs) in culture dishes were placed in an electric field and stimulated. Transmission electron microscopy was used to observe the ultrastucture prior to and following rapid pacing...
October 2016: Molecular Medicine Reports
Aref Rashed, Karoly Gombocz, Janos Fulop, Nasri Alotti
INTRODUCTION: Iatrogenic ventricular septal defect is a rare complication after the surgical replacement of cardiac valves. Small defects may have no hemodynamic significance or remain unremarked at the end of the surgical procedure. Understanding of the valvular anatomy alone is not always enough to avoid such complications, especially in the hands of young surgeons. PRESENTATION OF CASE: We present a case of iatrogenic ventricular septal defect that developed early after the surgical closure of a hemodynamically significant mitral paravalvular leak...
2016: International Journal of Surgery Case Reports
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
Adriana Dm Villa, Eva Sammut, Arjun Nair, Ronak Rajani, Rodolfo Bonamini, Amedeo Chiribiri
The aim of this review is to give a comprehensive and concise overview of coronary embryology and normal coronary anatomy, describe common variants of normal and summarize typical patterns of anomalous coronary artery anatomy. Extensive iconography supports the text, with particular attention to images obtained in vivo using non-invasive imaging. We have divided this article into three groups, according to their frequency in the general population: Normal, normal variant and anomaly. Although congenital coronary artery anomalies are relatively uncommon, they are the second most common cause of sudden cardiac death among young athletes and therefore warrant detailed review...
June 28, 2016: World Journal of Radiology
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
Rahul Vasudev, Priyank Shah, Mahesh Bikkina, Fayez Shamoon
Quadricuspid aortic valve (QAV) is a rare congenital cardiac anomaly causing aortic regurgitation usually in the fifth to sixth decade of life. Earlier, the diagnosis was mostly during postmortem or intraoperative, but now with the advent of better imaging techniques such as transthoracic echocardiography, transesophageal echocardiography (TEE), and cardiac magnetic resonance imaging, more cases are being diagnosed in asymptomatic patients. We present a case of a 39-year-old male who was found to have QAV, with the help of TEE, while undergoing evaluation for a diastolic murmur...
2016: Journal of Clinical Imaging Science
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
Christopher V DeSimone, Prakriti Gaba, Jason Tri, Faisal Syed, Amit Noheria, Samuel J Asirvatham
The three-dimensional morphology of the left atrial appendage provides the substrate for thrombus generation, and is a harbinger for embolic material due to its direct connection to the left-sided circulation. Appreciating the development of the appendage from mesodermal layer to its adult form provides the basis to improve exclusion from the atrial circulation, and thereby can lead to a significant reduction in stroke risk. This process also provides insight into the role of the left atrial appendage as an endocrine organ, its involvement in fluid homeostasis, and its connection to the autonomic nervous system...
August 2015: Journal of Atrial Fibrillation
Francesco Mascarello, Luana Toniolo, Pasqua Cancellara, Carlo Reggiani, Lisa Maccatrozzo
In the mammalian genome, among myosin heavy chain (MyHC) isoforms a family can be identified as sarcomeric based on their molecular structure which allows thick filament formation. In this study we aimed to assess the expression of the 10 sarcomeric isoforms in human skeletal muscles, adopting this species as a reference for comparison with all other mammalian species. To this aim, we set up the condition for quantitative Real Time PCR assay to detect and quantify MyHC mRNA expression in a wide variety of human muscles from somitic, presomitic and preotic origin...
September 2016: Annals of Anatomy, Anatomischer Anzeiger: Official Organ of the Anatomische Gesellschaft
José María Pérez-Pomares, José Luis de la Pompa, Diego Franco, Deborah Henderson, Siew Yen Ho, Lucile Houyel, Robert G Kelly, David Sedmera, Mary Sheppard, Silke Sperling, Gaetano Thiene, Maurice van den Hoff, Cristina Basso
Congenital coronary artery anomalies are of major significance in clinical cardiology and cardiac surgery due to their association with myocardial ischaemia and sudden death. Such anomalies are detectable by imaging modalities and, according to various definitions, their prevalence ranges from 0.21 to 5.79%. This consensus document from the Development, Anatomy and Pathology Working Group of the European Society of Cardiology aims to provide: (i) a definition of normality that refers to essential anatomical and embryological features of coronary vessels, based on the integrated analysis of studies of normal and abnormal coronary embryogenesis and pathophysiology; (ii) an animal model-based systematic survey of the molecular and cellular mechanisms that regulate coronary blood vessel development; (iii) an organization of the wide spectrum of coronary artery anomalies, according to a comprehensive anatomical and embryological classification scheme; (iv) current knowledge of the pathophysiological mechanisms underlying symptoms and signs of coronary artery anomalies, with diagnostic and therapeutic implications...
February 1, 2016: Cardiovascular Research
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
Aqeela H Al-Hashim, Susan Blaser, Charles Raybaud, Daune MacGregor
AIM: To study neuroradiological features in pediatric patients with corpus callosum abnormalities, using new functional subtyping for the corpus callosum, and to correlate the features with the clinical presentation. METHOD: We performed a retrospective review of 125 patients with radiologically identified abnormalities of the corpus callosum seen between 1999 and 2012. The study reviewed clinical features, genetic etiology, and chromosomal microarray (CMA) results...
May 2016: Developmental Medicine and Child Neurology
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