997 results match your criteria Endocardial Cushion Defects

National Fontan Operation short-term outcomes at or below 2-years-of-age compared to older than 2-years-of-age.

J Card Surg 2022 Jun 24;37(6):1567-1573. Epub 2022 Mar 24.

Department of Surgery, Section of Pediatric Cardiothoracic Surgery, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

Introduction: Opinion is divided about optimal early timing of the Fontan Operation (FO). While some studies have suggested 3 years-of-age, others have shown good outcomes below 2 years-of-age. We analyzed the impact of age ≤2 years as compared age >2 years on short-term outcome of the FO using a large national database. Read More

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Trifoliate left atrioventricular valve with and without intact septal structures in four dogs: echocardiographic findings and surgical repair.

J Vet Cardiol 2022 Feb 10;41:70-78. Epub 2022 Feb 10.

Department of Clinical Sciences, Colorado State University, Campus Delivery 1678, Fort Collins, CO 80523-1678, USA.

Trifoliate left atrioventricular (AV) valve with common atrioventricular junction is considered part of the spectrum of atrioventricular septal defect. This valve morphology is typically associated with defects in the AV septum resulting in communication at the atrial or ventricular level, but has also been described as an isolated defect in the setting of a common AV junction without AV septal defect. Trifoliate left AV valve exhibits a line of apposition between the bridging leaflets that is directed toward the inlet interventricular septum, distinguishing it from isolated mitral valve cleft in which the orientation of the bridging leaflets are toward the left ventricular outflow tract. Read More

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February 2022

ERp44 is required for endocardial cushion development by regulating VEGFA secretion in myocardium.

Cell Prolif 2022 Mar 28;55(3):e13179. Epub 2022 Jan 28.

Key Laboratory of Interdisciplinary Research, Institute of Biophysics, Chinese Academy of Sciences, Beijing, China.

Objectives: Endocardial cushions are precursors of the valve septum complex that separates the four heart chambers. Several genes have been implicated in the development of endocardial cushions. Specifically, ERp44 has been found to play a role in the early secretory pathway, but its function in heart development has not been well studied. Read More

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Association of Alcohol Use Diagnostic Codes in Pregnancy and Offspring Conotruncal and Endocardial Cushion Heart Defects.

J Am Heart Assoc 2022 01 11;11(2):e022175. Epub 2022 Jan 11.

Department of Surgery Keck School of Medicine of University of Southern California Los Angeles CA.

Background The pathogenesis of congenital heart disease (CHD) remains largely unknown, with only a small percentage explained solely by genetic causes. Modifiable environmental risk factors, such as alcohol, are suggested to play an important role in CHD pathogenesis. We sought to evaluate the association between prenatal alcohol exposure and CHD to gain insight into which components of cardiac development may be most vulnerable to the teratogenic effects of alcohol. Read More

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January 2022

The Role of Sorting Nexin 17 in Cardiac Development.

Front Cardiovasc Med 2021 20;8:748891. Epub 2021 Dec 20.

Department of Cardiology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Sorting nexin 17 (SNX17), a member of sorting nexin (SNX) family, acts as a modulator for endocytic recycling of membrane proteins. Results from our previous study demonstrated the embryonic lethality of homozygous defect of SNX17. In this study, we investigated the role of SNX17 in rat fetal development. Read More

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December 2021

Pathology and Advanced Imaging-Characterization of a Congenital Cardiac Defect and Complex Hemodynamics in a Pig: A Case Report.

Front Vet Sci 2021 6;8:790019. Epub 2021 Dec 6.

Center for Surgical Research, University of Zurich, University Hospital of Zurich, Zurich, Switzerland.

Domestic pigs are widely used in cardiovascular research as the porcine circulatory system bears a remarkable resemblance to that of humans. In order to reduce variability, only clinically healthy animals enter the study as their health status is assessed in entry examination. Like humans, pigs can also suffer from congenital heart disease, such as an atrial septal defect (ASD), which often remains undetected. Read More

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December 2021

ERBB3-dependent AKT and ERK pathways are essential for atrioventricular cushion development in mouse embryos.

PLoS One 2021 29;16(10):e0259426. Epub 2021 Oct 29.

Department of Life Science, Ewha Womans University, Seoul, Republic of Korea.

ERBB family members and their ligands play an essential role in embryonic heart development and adult heart physiology. Among them, ERBB3 is a binding partner of ERBB2; the ERBB2/3 complex mediates downstream signaling for cell proliferation. ERBB3 has seven consensus binding sites to the p85 regulatory subunit of PI3K, which activates the downstream AKT pathway, leading to the proliferation of various cells. Read More

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December 2021

Prenatal ethanol exposure impairs the conduction delay at the atrioventricular junction in the looping heart.

Am J Physiol Heart Circ Physiol 2021 08 18;321(2):H294-H305. Epub 2021 Jun 18.

Department of Biomedical Engineering, School of Engineering and School of Medicine, Case Western Reserve University, Cleveland, Ohio.

The etiology of ethanol-related congenital heart defects has been the focus of much study, but most research has concentrated on cellular and molecular mechanisms. We have shown with optical coherence tomography (OCT) that ethanol exposure led to increased retrograde flow and smaller atrioventricular (AV) cushions compared with controls. Since AV cushions play a role in patterning the conduction delay at the atrioventricular junction (AVJ), this study aims to investigate whether ethanol exposure alters the AVJ conduction in early looping hearts and whether this alteration is related to the decreased cushion size. Read More

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Outflow Tract Formation-Embryonic Origins of Conotruncal Congenital Heart Disease.

J Cardiovasc Dev Dis 2021 Apr 9;8(4). Epub 2021 Apr 9.

Aix-Marseille Université, INSERM, MMG, U1251, 27 boulevard Jean Moulin, 13005 Marseille, France.

Anomalies in the cardiac outflow tract (OFT) are among the most frequent congenital heart defects (CHDs). During embryogenesis, the cardiac OFT is a dynamic structure at the arterial pole of the heart. Heart tube elongation occurs by addition of cells from pharyngeal, splanchnic mesoderm to both ends. Read More

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Telemedicine usage via WeChat for children with congenital heart disease preoperatively during COVID-19 pandemic: a retrospective analysis.

Int J Qual Health Care 2021 Apr;33(2)

Department of Cardiac Surgery, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, No.18 of Danshan Road Fuzhou, Fujian 350001, China.

Objective: During the COVID-19 pandemic, parents of infants having medical problem face challenges of insufficient medical resources at home. The purpose of this study was to investigate the effect of WeChat-based telehealth services on the preoperative follow-up of infants with congenital heart disease (CHD) during the COVID-19 pandemic.

Methods: This study retrospectively analyzed the medical records of 190 infants with CHD who underwent remote follow-up via WeChat from December 2019 to May 2020 in Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University. Read More

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Atrioventricular Septal Defect: What Is in a Name?

Michael Rigby

J Cardiovasc Dev Dis 2021 Feb 15;8(2). Epub 2021 Feb 15.

MD FRCP FRCPCH, Royal Brompton Hospital, London SW3 6NP, UK.

Robert Anderson has made a huge contribution to almost all aspects of morphology and understanding of congenital cardiac malformations, none more so than the group of anomalies that many of those in the practice of paediatric cardiology and adult congenital heart disease now call 'Atrioventricular Septal Defect' (AVSD). In 1982, with Anton Becker working in Amsterdam, their hallmark 'What's in a name?' editorial was published in the . At that time most described the group of lesions as 'atrioventricular canal malformation' or 'endocardial cushion defect'. Read More

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February 2021

"Repair of common atrioventricular junction in isolation and when associated with other congenital heart defects".

Indian J Thorac Cardiovasc Surg 2021 Jan 11;37(Suppl 1):54-66. Epub 2020 Jun 11.

Department Of Pediatric Cardiac Surgery, Apollo Children"s Hospitals, No. 15, Shafee Mohammed Road, Thousand Lights, Chennai, Tamil Nadu 600006 India.

Management of atrioventricular septal defects has grown leaps and bounds since the first correction of this malformation. Main reasons considered for the improvement are good understanding of lesion anatomy, precise preoperative diagnosis including imaging, progress in surgical technique, myocardial protection, and post-operative care. In this article we review the anatomy, pathophysiology, clinical features, associations, diagnosis, surgical therapy, complications, and results of atrioventricular septal defects. Read More

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January 2021

Over-expression of Fgf8 in cardiac neural crest cells leads to persistent truncus arteriosus.

J Mol Histol 2021 Apr 5;52(2):351-361. Epub 2021 Feb 5.

Department of Oral Pathology, School of Stomatology, Dalian Medical University, Dalian, 116044, China.

During cardiogenesis, the outflow tract undergoes a complicated morphogenesis, including the re-alignment of the great blood vessels, and the separation of aorta and pulmonary trunk. The deficiency of FGF8 in the morphogenesis of outflow tract has been well studied, however, the effect of over-dosed FGF8 on the development of outflow tract remains unknown. In this study, Rosa26R-Fgf8 knock-in allele was constitutively activated by Wnt1-cre transgene in the mouse neural crest cells presumptive for the endocardial cushion of outflow tract. Read More

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A case of a complete atrioventricular canal defect in a ferret.

BMC Vet Res 2021 Jan 22;17(1):45. Epub 2021 Jan 22.

Department of Internal Medicine, Uludag University Faculty of Veterinary Medicine, Bursa, Turkey.

Background: Atrioventricular canal defect is a rare congenital disorder of the heart and describes the presence of an atrial septal defect, a variable presentation of ventricular septal alterations including ventricular septal defect malformations in the mitral and tricuspid valves. The defect has been described in human beings, dogs, cats, pigs, and horses.

Case Presentation: This paper describes the case of a complete atrioventricular canal defect in a four-year-old intact male pet ferret (Mustela putorius furo), which was presented due to posterior weakness, ataxia, and decreased appetite. Read More

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January 2021

Gradually Progressive Dyspnea and Exercise Intolerance in an Otherwise Active Middle-Aged Woman: Why Was the Presentation of Congenital Heart Disease Delayed?

J Cardiothorac Vasc Anesth 2021 Apr 2;35(4):1225-1230. Epub 2020 Dec 2.

Department of Anesthesiology, University of California-San Diego, La Jolla, CA.

Patients with congenital heart disease (CHD) increasingly are surviving into adulthood. In the United States alone, there are more than one million adult patients living with CHD with the number increasing about 5% each year. With more than 85% of infants with CHD surviving into adulthood with their disease, encounters with these patients in the operating room for cardiac and noncardiac operative procedures is becoming more commonplace. Read More

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Echocardiographic assessment of atrioventricular canal defects.

Echocardiography 2020 12;37(12):2199-2210

University of California, Riverside, CA, USA.

AV canal defects (AVCD) are caused by maldevelopment of the endocardial cushions and typically include a primum atrial septal defect (ASD), an inlet ventricular septal defect (VSD), and a common atrioventricular valve. The variations in deformities provide the basis for the many terms used in the anatomical classifications: partial, transitional, intermediate, and complete common AVCD (balanced or unbalanced). The balanced complete common AVCDs are classified as Rastelli A, B, C depending on the anomaly of the anterior bridging leaflet division and attachments. Read More

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December 2020

Diagnostic application of prenatal ultrasound in foetal heart complex malformation in twin pregnancy.

J Pak Med Assoc 2020 Sep;70 [Special Issue](9):139-144

Department of Ultrasonic Diagnosis, Yanan People's Hospital, Shaanxi, China.

To explore the value of prenatal ultrasound in the diagnosis of twin pregnancy with foetal heart malformation, 30 foetuses with congenital heart disease of twin pregnancy who were 19-37 weeks between July 2016 and January 2018 were selected for prenatal ultrasound examination. The prenatal ultrasound was carried out and the data were collected and analyzed statistically. The results showed that there were 11 cases of ventricular septal defect (VSD), 3 cases of endocardial cushion defect, 3 cases of left cardiac dysplasia, 4 cases of right ventricular double outlet, 5 cases of aortic stenosis, 2 cases of tetralogy of Fallot, and 2 cases of aortic disconnection. Read More

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September 2020

Major Septal Defects: Comparative Study of Down Syndrome and Non-Down Syndrome Infants, Before and After Surgery.

Pak J Med Sci 2020 Jul-Aug;36(5):925-929

Dr. Waris Ahmad Assistant Professor, Pediatric Cardiothoracic Surgery, Aga Khan University, Karachi, Pakistan.

Objective: To compare pre-operative, intra-operative, and post-operative parameters in Down syndrome (DS) and non-DS patients with atrioventricular septal defects (AVSD) and inlet ventricular septal defects (VSD) in a tertiary care hospital in Pakistan.

Methods: We conducted a retrospective study at Aga Khan University, Pakistan. All complete atrioventricular septal defect (CAVSD), partial atrioventricular septal defect (PAVSD), and VSD with inlet extension surgical cases from January 2007 to January 2019 were included. Read More

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NOX2 Is Critical to Endocardial to Mesenchymal Transition and Heart Development.

Oxid Med Cell Longev 2020 16;2020:1679045. Epub 2020 Jun 16.

Department of Physiology and Pharmacology, Schulich School of Medicine and Dentistry, Western University, London, Canada.

NADPH oxidases (NOX) are a major source of reactive oxygen species (ROS) production in the heart. ROS signaling regulates gene expression, cell proliferation, apoptosis, and migration. However, the role of NOX2 in embryonic heart development remains elusive. Read More

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Embryonic development of bicuspid aortic valves.

Prog Cardiovasc Dis 2020 Jul - Aug;63(4):407-418. Epub 2020 Jun 25.

Departamento de Biología Animal, Facultad de Ciencias, Universidad de Málaga, Málaga, Spain; Instituto de Investigación Biomédica de Málaga (IBIMA), Málaga, Spain; CIBERCV Enfermedades Cardiovasculares, Málaga, Spain. Electronic address:

Bicuspid aortic valve (BAV) is the most common congenital cardiac malformation, frequently associated with aortopathies and valvulopathies. The congenital origin of BAV is suspected to impact the development of the disease in the adult life. During the last decade, a number of studies dealing with the embryonic development of congenital heart disease have significantly improved our knowledge on BAV etiology. Read More

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October 2020

Post-Left Atrium Space Index in Fetuses With Total Anomalous Pulmonary Venous Connection and Other Congenital Heart Diseases.

J Ultrasound Med 2020 Dec 3;39(12):2405-2412. Epub 2020 Jun 3.

Department of Ultrasound, Beijing Anzhen Hospital, Capital Medical University, Beijing Key Laboratory of Maternal-Fetal Medicine in Fetal Heart Disease, Beijing, China.

Objectives: We aimed to explore the value of the post-left atrium space (PLAS) index in the diagnosis of total anomalous pulmonary venous connection (TAPVC) and the effect of other congenital heart diseases on the PLAS index in the fetus.

Methods: The PLAS index of 69 fetuses with TAPVC was analyzed retrospectively. Approximately 252 healthy fetuses were randomly selected as controls, and 110 cases of intracardiac malformations were randomly selected for comparison. Read More

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December 2020

Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect.

Am J Med Genet A 2020 06 22;182(6):1342-1350. Epub 2020 Apr 22.

Pediatric Cardiology and Cardiac Arrhythmias Unit, Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Morbidity and mortality in Down syndrome (DS) are mainly related to congenital heart defects (CHDs). While CHDs with high prevalence in DS (typical CHDs), such as endocardial cushion defects, have been extensively described, little is known about the impact of less common CHDs (atypical CHDs), such as aortic coarctation and univentricular hearts. In our single-center study, we analyzed, in observational, retrospective manner, data regarding cardiac features, surgical management, and outcomes of a cohort of DS patients. Read More

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The construction and application of an ultrasound and anatomical cross-sectional database of structural malformations of the fetal heart.

Prenat Diagn 2020 06 17;40(7):892-904. Epub 2020 May 17.

Division of Obstetric Ultrasonography, Department of Obstetrics and Gynecology, Peking University People's Hospital, Beijing, P.R. China.

Objectives: Establish a fetal heart anatomical cross-sectional database that correlates with screening transverse ultrasound images suggested by international professional organizations to detect congenital heart defects.

Methods: Fetuses with suspected congenital heart defects identified using the following cardiac image sequences obtained from transverse slices beginning from the upper abdomen and ending in the upper thorax were the subjects of this study: (1) four-chamber view, (2) left ventricular outflow tract view, (3) three-vessel right ventricular outflow tract view, and (4) the three-vessel tracheal view. A database of digital two-dimensional images of the transverse sweep was created for fetuses with confirmed congenital heart defects. Read More

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Percutaneous closure of an acquired and iatrogenic left ventricular-right atrium communication (Gerbode defect) with an Amplatzer Vascular Plug II.

J Cardiol Cases 2020 Jan 17;21(1):24-27. Epub 2019 Sep 17.

Pediatric Cardiology Department, Pediatric Specialties Hospital, Tuxtla Gutiérrez, Chiapas, Mexico.

Gerbode defect is defined as an abnormal left ventricle-right atrium shunting which may have congenital or acquired origin, first described by Thurman in 1838, representing 0.08% of intracardiac shunts and <1% of the congenital heart diseases. The acquired defect can be classified as iatrogenic or non-iatrogenic, with previous cardiac surgery being the most common cause. Read More

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January 2020

Hypermethylation of gene correlates with the presence of heart defects in Down's syndrome.

J Genet 2019 Dec;98

Department of Medical Genetics, Faculty of Medicine, Jagiellonian University Medical College, ul. Wielicka 265, 30-663 Krakow, Poland.

Congenital heart defects can decrease the quality of life and life expectancy in affected individuals, and constitute a major burden for the health care systems. Endocardial cushion defects are among the most prevalent heart malformations in the general population, and are extremely frequent (approximately a 100-fold higher prevalence) in children with Down syndrome. Several genes have been proposed to be involved in the pathogenesis of these malformations, but no common pathogenic DNA variants have been identified so far. Read More

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December 2019

FRS2α-dependent cell fate transition during endocardial cushion morphogenesis.

Dev Biol 2020 02 25;458(1):88-97. Epub 2019 Oct 25.

Department of Internal Medicine and Department of Cell Biology, Yale Cardiovascular Research Center, Yale University School of Medicine, New Haven, CT, USA. Electronic address:

Atrioventricular valve development requires endothelial-to-mesenchymal transition (EndMT) that induces cushion endocardial cells to give rise to mesenchymal cells crucial to valve formation. In the adult endothelium, deletion of the docking protein FRS2α induces EndMT by activating TGFβ signaling in a miRNA let-7-dependent manner. To study the role of endothelial FRS2α during embryonic development, we generated mice with an inducible endothelial-specific deletion of Frs2α (FRS2α). Read More

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February 2020

Genetic Variants at the rs4720169 Locus of and the rs12921862 Locus of May Increase the Risk of Congenital Heart Defects in the Mexican Population: A Pilot Study.

Genet Test Mol Biomarkers 2019 Sep;23(9):664-670

Departamento de Genética, Hospital Universitario "Dr. José E. González," Universidad Autónoma de Nuevo León, Monterrey, Mexico.

Congenital heart defects (CHDs) are the most common type of birth defects and a major cause of infant mortality. Although knowledge of genetic risk variants for CHDs is scarce, most cases of CHDs are considered to be due to multifactorial inheritance. To analyze the association of 14 single nucleotide polymorphic variants previously associated with a risk of CHDs in a Mexican population with isolated CHDs. Read More

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September 2019

Isolated anterior mitral cleft.

Semi Ozturk

Echocardiography 2019 09 27;36(9):1769-1770. Epub 2019 Aug 27.

Department of Cardiology, Haseki Training and Research Hospital, Istanbul, Turkey.

Anterior mitral valve clefts are unusual anomalies particularly associated with endocardial cushion defects. A dysplastic subvalvular apparatus causing left ventricular outflow tract obstruction may result in diagnostic confusion. We present an isolated anterior mitral cleft associated with subvalvular dysplasia. Read More

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September 2019

Pulmonary artery banding in a kitten with a partial atrioventricular septal defect.

J Vet Cardiol 2019 Aug 15;24:20-27. Epub 2019 May 15.

Friendship Hospital for Animals, 4105 Brandywine St. NW, Washington, DC 20016, USA.

A 9-month-old kitten with increased resting respiratory rate and exercise intolerance was diagnosed with a congenital partial atrioventricular septal defect causing pulmonary over circulation and presumed pulmonary hypertension based on echocardiogram. Invasive pressure measurements and contrast angiography confirmed this diagnosis. The cat underwent pulmonary artery banding under general anesthesia. Read More

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