975 results match your criteria Endocardial Cushion Defects


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

Am J Med Genet A 2020 Jun 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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http://dx.doi.org/10.1002/ajmg.a.61586DOI Listing

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

Prenat Diagn 2020 Apr 12. Epub 2020 Apr 12.

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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http://dx.doi.org/10.1002/pd.5708DOI Listing

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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http://dx.doi.org/10.1016/j.jccase.2019.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6951298PMC
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

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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http://dx.doi.org/10.1089/gtmb.2019.0029DOI Listing
September 2019
7 Reads

Isolated anterior mitral cleft.

Authors:
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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http://dx.doi.org/10.1111/echo.14455DOI Listing
September 2019
3 Reads

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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http://dx.doi.org/10.1016/j.jvc.2019.05.003DOI Listing
August 2019
1 Read

Congenital Cardiovascular Anomalies among Cases of Down Syndrome: A Hospital Based Review of Cases in TikurAnbessa Specialized Hospital, Ethiopia.

Ethiop J Health Sci 2019 Mar;29(2):165-174

Department of Pediatrics and Child Health, College of Health Sciences, Addis Ababa University, Ethiopia.

Background: In developing countries, infants with Down syndrome and cardiac defect are at increased risk of dying. Congenital heart diseases occur in 40-50% of affected infants. Endocardial cushion defect accounts for the most. Read More

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http://dx.doi.org/10.4314/ejhs.v29i2.3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460451PMC
March 2019
32 Reads

Development of heart failure in young patients with congenital heart disease: a nation-wide cohort study.

Open Heart 2019 25;6(1):e000858. Epub 2019 Mar 25.

Department of Molecular and Clinical Medicine, Goteborgs universitet Sahlgrenska Akademin, Goteborg, Sweden.

Objective: Heart failure (HF) is a common cause of hospitalisation and death in adults with congenital heart disease (CHD). However, the risk of HF in young patients with CHD has not been determined.

Methods: By linkage of national patient registers in Sweden, we identified 21 982 patients with CHD born between 1970 and 1993, and compared these with 10 controls per case. Read More

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http://dx.doi.org/10.1136/openhrt-2018-000858DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6443131PMC
March 2019
8 Reads

The left atrioventricular valve: The Achilles' heel of incomplete endocardial cushion defects.

Authors:
Meena Nathan

J Thorac Cardiovasc Surg 2018 Nov 8. Epub 2018 Nov 8.

Department of Cardiac Surgery, Boston Children's Hospital, Boston, Mass; Department of Surgery, Harvard Medical School, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jtcvs.2018.10.120DOI Listing
November 2018
7 Reads

Prenatal exposure to PM and Congenital Heart Diseases in Taiwan.

Sci Total Environ 2019 Mar 20;655:880-886. Epub 2018 Nov 20.

Department of Environmental and Occupational Medicine, National Taiwan University College of Medicine and Hospital, Taipei, Taiwan; National Institute of Environmental Health Sciences, National Health Research Institutes, Miaoli, Taiwan; Institute of Occupational Medicine and Industrial Hygiene, National Taiwan University College of Public Health, Taipei, Taiwan. Electronic address:

Gestational exposure to ambient air pollution has been associated with Congenital Heart Diseases (CHDs). However, only a few studies, with inconsistent results, have investigated the effects of PM exposure during early pregnancy. This study aims to evaluate the association between prenatal exposure to PM and CHDs occurrence. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00489697183464
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http://dx.doi.org/10.1016/j.scitotenv.2018.11.284DOI Listing
March 2019
39 Reads

Goose neck appearance: Endocardial cushion defect.

J Med Imaging Radiat Oncol 2018 Oct;62 Suppl 1:31

Department of Radiology, Concord Repatriation General Hospital, Concord, New South Wales, Australia.

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http://doi.wiley.com/10.1111/1754-9485.18_12785
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http://dx.doi.org/10.1111/1754-9485.18_12785DOI Listing
October 2018
7 Reads

RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects.

Dis Model Mech 2018 08 28;11(9). Epub 2018 Aug 28.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA

Deletions of chromosome 1p36 are associated with a high incidence of congenital heart defects (CHDs). The arginine-glutamic acid dipeptide repeats gene () is located in a critical region for CHD on chromosome 1p36 and encodes a cardiac-expressed nuclear receptor co-regulator. Mutations affecting cause atrial and ventricular septal defects (VSDs) in humans, and RERE-deficient mice also develop VSDs. Read More

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http://dx.doi.org/10.1242/dmm.031534DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6176990PMC
August 2018
34 Reads
4.973 Impact Factor

Mediator complex subunit Med12 regulates cardiac jelly development and AV valve formation in zebrafish.

Prog Biophys Mol Biol 2018 10 20;138:20-31. Epub 2018 Jul 20.

Molecular Cardiology, Department of Internal Medicine II, University of Ulm, Ulm, Germany. Electronic address:

The molecular mechanism essential for the formation of heart valves involves complex interactions of signaling molecules and transcription factors. The Mediator Complex (MC) functions as multi-subunit machinery to orchestrate gene transcription, especially for tissue-specific fine-tuning of transcriptional processes during development, also in the heart. Here, we analyzed the role of the MC subunit Med12 during atrioventricular canal (AVC) development and endocardial cushion formation, using the Med12-deficient zebrafish mutant trapped (tpd). Read More

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http://dx.doi.org/10.1016/j.pbiomolbio.2018.07.010DOI Listing
October 2018
18 Reads

[Prenatal diagnosis and genetic analysis of a fetus with endocardial cushion defects].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Jun;35(3):418-421

Henan Provincial People's Hospital; Medical Genetics Institute of Henan Province; People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China.

Objective: To perform prenatal diagnosis for a fetus with endocardial cushion defect and explore its mechanism.

Methods: The karotypes of the fetus and its parents were analyzed by routine G-banding. Their genomic DNA was also analyzed by array comparative genomic hybridization (aCGH). Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.03.025DOI Listing
June 2018
41 Reads

Clinical study of prenatal ultrasonography combined with T‑box transcription factor 1 as a biomarker for the diagnosis of congenital heart disease.

Mol Med Rep 2018 May 14;17(5):7346-7350. Epub 2018 Mar 14.

Department of Hand and Foot Surgery, Jining No. 1 People's Hospital, Jining, Shandong 272011, P.R. China.

Congenital heart disease (CHD) seriously threatens fetal health. Therefore, prenatal examination to detect deformity is extremely important. The present study aimed to investigate the clinical application value of prenatal ultrasonography combined with molecular biology methods in the diagnosis of fetal CHD. Read More

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http://dx.doi.org/10.3892/mmr.2018.8742DOI Listing
May 2018
15 Reads

The epicardium obscures interpretations on endothelial-to-mesenchymal transition in the mouse atrioventricular canal explant assay.

Sci Rep 2018 03 16;8(1):4722. Epub 2018 Mar 16.

VIB-KU Leuven Center for Brain & Disease Research, KU Leuven, Belgium.

Atrioventricular septal defects often result from impaired endocardial cushion development. Endothelial-to-mesenchymal transition (EndoMT) is a critical event in endocardial cushion development that initiates in the atrioventricular canal (AVC). In ex vivo EndoMT studies, mouse AVCs are flat-mounted on a collagen gel. Read More

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http://www.nature.com/articles/s41598-018-22971-w
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http://dx.doi.org/10.1038/s41598-018-22971-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5856756PMC
March 2018
14 Reads

Rbm24, a target of p53, is necessary for proper expression of p53 and heart development.

Cell Death Differ 2018 06 22;25(6):1118-1130. Epub 2018 Jan 22.

Comparative Oncology Laboratory, Schools of Veterinary Medicine and Medicine, University of California at Davis, Davis, CA, 95616, USA.

Activation of p53-dependent apoptosis is critical for tumor suppression but aberrant activation of p53 also leads to developmental defects and heart failure. Here, we found that Rbm24 RNA-binding protein, a target of p53, regulates p53 mRNA translation. Mechanistically, we found that through binding to p53 mRNA and interaction with translation initiation factor eIF4E, Rbm24 prevents eIF4E from binding to p53 mRNA and inhibits the assembly of translation initiation complex. Read More

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http://dx.doi.org/10.1038/s41418-017-0029-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988652PMC
June 2018
15 Reads

Incidence, Predictors, and Mortality of Infective Endocarditis in Adults With Congenital Heart Disease Without Prosthetic Valves.

Am J Cardiol 2017 Dec 14;120(12):2278-2283. Epub 2017 Oct 14.

McGill Adult Unit for Congenital Heart Disease Excellence, McGill University Health Centre, Montreal, Quebec, Canada; Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montreal, Quebec, Canada. Electronic address:

Congenital heart disease (CHD) increases the risk of infective endocarditis (IE), though the lesion-specific risk and mortality are poorly defined. Using the population-based Quebec CHD database, we sought to describe the predictors of IE and to evaluate if IE was associated with mortality among adult CHD (ACHD) patients without prior valve replacement surgery. We extracted data on ACHD patients with IE and assessed the lesion-specific incidence of IE, risk factors for IE acquisition, and all-cause 1-year mortality. Read More

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http://dx.doi.org/10.1016/j.amjcard.2017.08.051DOI Listing
December 2017
29 Reads

Preliminary study of the application of transthoracic echocardiography-guided three-dimensional printing for the assessment of structural heart disease.

Echocardiography 2017 12 25;34(12):1903-1908. Epub 2017 Oct 25.

Department of Ultrasound, Tianjin Chest Hospital, Tianjin, China.

Objective: To investigate the feasibility and diagnostic value of a preoperative transthoracic echocardiography-guided three-dimensional printed model (TTE-guided 3DPM) for the assessment of structural heart disease (SHD).

Methods: Fourty-four patients underwent cardiac surgery at Tianjin Chest Hospital. The patients were preoperatively assessed using TTE-guided 3DPM, which was compared to conventional three-dimensional transthoracic echocardiography (3DTTE) along with direct intraoperative findings, which were considered the "gold standard. Read More

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http://dx.doi.org/10.1111/echo.13715DOI Listing
December 2017
49 Reads

Hemodynamic Forces Sculpt Developing Heart Valves through a KLF2-WNT9B Paracrine Signaling Axis.

Dev Cell 2017 11 19;43(3):274-289.e5. Epub 2017 Oct 19.

Department of Medicine and Cardiovascular Institute, University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104, USA. Electronic address:

Hemodynamic forces play an essential epigenetic role in heart valve development, but how they do so is not known. Here, we show that the shear-responsive transcription factor KLF2 is required in endocardial cells to regulate the mesenchymal cell responses that remodel cardiac cushions to mature valves. Endocardial Klf2 deficiency results in defective valve formation associated with loss of Wnt9b expression and reduced canonical WNT signaling in neighboring mesenchymal cells, a phenotype reproduced by endocardial-specific loss of Wnt9b. Read More

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http://dx.doi.org/10.1016/j.devcel.2017.09.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760194PMC
November 2017
40 Reads

CRELD1 gene variants and atrioventricular septal defects in Down syndrome.

Gene 2018 Jan 18;641:180-185. Epub 2017 Oct 18.

Department of Cardiology, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow 226014, India.

Congenital heart defects (CHD) are seen in around 40% of the Down syndrome patients. Atrioventricular Septal Defect (AVSD) or endocardial cushion defect is commonest form of CHD in these children. CRELD1 gene is implicated in causation of sporadic AVSD. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03781119173089
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http://dx.doi.org/10.1016/j.gene.2017.10.044DOI Listing
January 2018
27 Reads

Left atrial outflow obstruction in double-outlet right atrium.

Asian Cardiovasc Thorac Ann 2018 Jan 8;26(1):50-53. Epub 2017 Oct 8.

Department of Cardiology, 29354 Sree Chitra Tirunal Institute for Medical Sciences and Technology , Thiruvananthapuram, Kerala, India.

We describe an unusual case of partial atrioventricular septal defect with malalignment of the septum primum to the left atrium with respect to the ventricular septum, committing the tricuspid valve to both ventricles (double-outlet right atrium). Abnormal attachment of the septum primum to the lateral aspect of mitral annulus resulted in left atrial outflow obstruction. The patient underwent successful surgical correction. Read More

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http://dx.doi.org/10.1177/0218492317736962DOI Listing
January 2018
22 Reads

Repair of Double Orifice Left AV Valve (DOLAVV) with Endocardial Cushion Defect in Adult.

Braz J Cardiovasc Surg 2017 Jul-Aug;32(4):338-340

Sree Chitra Tirunal Institute for Medical Sciences and Technology, Department of Cardiovascular and Thoracic Surgery, Trivandrum, Kerala, India.

Double orifice left atrioventricular valve (DOLAVV) or double orifice mitral valve (DOMV) is a rare congenital cardiac anomaly manifesting either as an isolated lesion (mitral stenosis or mitral insufficiency) or in association with other congenital cardiac defects. Signs of mitral valve disease are usually present along with the symptoms of associated coexistent congenital heart diseases. Mitral insufficiency due to annular dilatation is seen when DOLAVV is associated with endocardial cushion defects. Read More

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http://www.bjcvs.org/pdfRBCCV/v32n4a15.pdf
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http://dx.doi.org/10.21470/1678-9741-2016-0034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5613729PMC
October 2017
12 Reads

Risk factors for infective endocarditis in children with congenital heart diseases - A nationwide population-based case control study.

Int J Cardiol 2017 Dec 12;248:126-130. Epub 2017 Aug 12.

Institute of Population Health Sciences, National Health Research Institutes, Zhunan, Miaoli County, Taiwan. Electronic address:

Background: Infective endocarditis (IE) is uncommon in childhood. Its associated epidemiological characteristics in patients with congenital heart disease (CHD) remain unclear.

Methods: The study population included children born in Taiwan during the years 1997 to 2005 who were diagnosed as having CHD before 3years of age. Read More

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http://dx.doi.org/10.1016/j.ijcard.2017.08.009DOI Listing
December 2017
18 Reads

BMP2 expression in the endocardial lineage is required for AV endocardial cushion maturation and remodeling.

Dev Biol 2017 10 6;430(1):113-128. Epub 2017 Aug 6.

Department of Regenerative Medicine and Cell Biology and Cardiovascular Developmental Biology Center, Medical University of South Carolina, Charleston, SC 29425, USA. Electronic address:

Distal outgrowth, maturation and remodeling of the endocardial cushion mesenchyme in the atrioventricular (AV) canal are the essential morphogenetic events during four-chambered heart formation. Mesenchymalized AV endocardial cushions give rise to the AV valves and the membranous ventricular septum (VS). Failure of these processes results in several human congenital heart defects. Read More

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http://dx.doi.org/10.1016/j.ydbio.2017.08.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5948002PMC
October 2017
60 Reads

[Initial study of transthoracic echocardiography guided three-dimensional printing on the application of assessment of structural heart disease].

Zhonghua Yi Xue Za Zhi 2017 Aug;97(29):2280-2283

Graduate School of Tianjin Medical University, Tianjin 300070, China.

To investigate the feasibility and diagnostic value of preoperative transthoracic echocardiography guided three dimensional printing model (TTE Guided 3DPM) on the assessment of structural heart disease (SHD). From February 2016 to October 2016, 44 patients underwent cardiac surgery in Tianjin Chest Hospital, forty-four patients were assessed preoperatively using TTE Guided 3DPM, including 25 males and 19 females, aged 3-75 years, with an average of (44±22) years. compared to conventional three dimensional transthoracic echocardiography (3D-TTE), and took direct intraoperative findings as "Golden Standard" simultaneously. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0376-2491.2017.29.010DOI Listing
August 2017
11 Reads

Holt-Oram Syndrome: A Rare Variant.

Iran J Med Sci 2017 Jul;42(4):416-419

Department of Neonatology and Paediatric Medicine, PGIMER, Dr. RML Hospital, New Delhi, India.

Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. Skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. They range from clinodactyly, absent or digitalised thumb, hypoplastic or absent radii, and first metacarpal to hypoplastic ulna and carpal bone anomalies. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5523052PMC
July 2017
20 Reads

Identification of adults with congenital heart disease of moderate or great complexity from administrative data.

Congenit Heart Dis 2018 Jan 24;13(1):65-71. Epub 2017 Jul 24.

Cambia Center for Palliative Care, Harborview Medical Center, Seattle, Washington, USA.

Introduction: There is relatively sparse literature on the use of administrative datasets for research in patients with adult congenital heart disease (ACHD). The goal of this analysis is to examine the accuracy of administrative data for identifying patients with ACHD who died.

Methods: A list of the International Classification of Diseases codes representing ACHD of moderate- or great-complexity was created. Read More

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http://dx.doi.org/10.1111/chd.12524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5783801PMC
January 2018
32 Reads

Perioperative and Anesthetic Considerations in Atrioventricular Septal Defect.

Semin Cardiothorac Vasc Anesth 2017 Sep 7;21(3):221-228. Epub 2017 Jun 7.

1 Seattle Children's Hospital, Seattle, WA, USA.

Atrioventricular septal defect results from a failure of normal endocardial cushion fusion during embryologic cardiac development. This developmental aberration results in defects in the atrial and/or ventricular septum and malformation of the atrioventricular valves. The pathophysiology of atrioventricular septal defect is variable, and ranges from mild left to right shunting similar to a simple atrial septal defect to complex single-ventricle heart disease. Read More

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http://dx.doi.org/10.1177/1089253217706166DOI Listing
September 2017
18 Reads

Repair of Complete Atrioventricular Septal Defects With Decellularized Extracellular Matrix: Initial and Midterm Outcomes.

World J Pediatr Congenit Heart Surg 2017 05;8(3):310-314

2 Mattel Children's Hospital, University of California, Los Angeles, Los Angeles, CA, USA.

Objective: Since April 2010, our institution has repaired complete atrioventricular septal defects (CAVSDs) with a two-patch technique utilizing CorMatrix extracellular material. This material is potentially an attractive patch because of its theorized eventual integration with the host tissue. We sought to analyze initial outcomes of CAVSD repair with CorMatrix. Read More

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http://dx.doi.org/10.1177/2150135116684797DOI Listing
May 2017
30 Reads

A hol(e)y predicament.

Respirol Case Rep 2017 07 20;5(4):e00237. Epub 2017 Apr 20.

Department of Cardiovascular Disease Oakland University William Beaumont School of Medicine Royal Oak Michigan USA.

Endocardial cushion defects are congenital abnormalities that result in valvular dysfunction as well as defects (or "holes") in the septa of the heart. They are typically diagnosed in early infancy; presentation late in life is rare. We present the case of a 72-year-old female admitted to the hospital with dyspnoea and palpitations. Read More

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http://doi.wiley.com/10.1002/rcr2.237
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http://dx.doi.org/10.1002/rcr2.237DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5398964PMC
July 2017
36 Reads

Increased Hemodynamic Load in Early Embryonic Stages Alters Endocardial to Mesenchymal Transition.

Front Physiol 2017 8;8:56. Epub 2017 Feb 8.

Biomedical Engineering, Oregon Health and Science University Portland, OR, USA.

Normal blood flow is essential for proper heart formation during embryonic development, as abnormal hemodynamic load (blood pressure and shear stress) results in cardiac defects seen in congenital heart disease. However, the progressive detrimental remodeling processes that relate altered blood flow to cardiac defects remain unclear. Endothelial-mesenchymal cell transition is one of the many complex developmental events involved in transforming the early embryonic outflow tract into the aorta, pulmonary trunk, interventricular septum, and semilunar valves. Read More

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http://dx.doi.org/10.3389/fphys.2017.00056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5296359PMC
February 2017
11 Reads

Increased regurgitant flow causes endocardial cushion defects in an avian embryonic model of congenital heart disease.

Congenit Heart Dis 2017 May 17;12(3):322-331. Epub 2017 Feb 17.

Department of Pediatric Cardiology, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.

Background: The relationship between changes in endocardial cushion and resultant congenital heart diseases (CHD) has yet to be established. It has been shown that increased regurgitant flow early in embryonic heart development leads to endocardial cushion defects, but it remains unclear how abnormal endocardial cushions during the looping stages might affect the fully septated heart. The goal of this study was to reproducibly alter blood flow in vivo and then quantify the resultant effects on morphology of endocardial cushions in the looping heart and on CHDs in the septated heart. Read More

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http://dx.doi.org/10.1111/chd.12443DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5467887PMC
May 2017
46 Reads

[Neuraxial analgesia in a parturient with the VACTERL association undergoing labor and vaginal delivery].

Rev Bras Anestesiol 2018 Mar - Apr;68(2):205-208. Epub 2017 Jan 9.

Department of Anesthesiology, University of Florida Health, Gainesville, Florida, EUA; Department of Anesthesiology, Mayo Clinic, Jacksonville, Florida, EUA.

Introduction: The term VACTERL is an acronym for an association of congenital malformations: including vertebral, anal, cardiac, tracheo-esophageal, renal and limb anomalies. VACTERL anomalies pose a formidable challenge to anesthesiologists. We describe the anesthetic management of a parturient with VACTERL association, who underwent neuraxial analgesia for labor and vaginal delivery. Read More

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http://dx.doi.org/10.1016/j.bjan.2016.05.002DOI Listing
May 2019
13 Reads

Isolated persistent left superior vena cava: A case report and its clinical implications.

Ann Card Anaesth 2017 Jan-Mar;20(1):104-107

Department of Cardiothoracic and Vascular Surgery, Apollo Hospitals, Bhubaneswar, Odisha, India.

The venous anomaly of a persistent left superior vena cava (PLSVC) affects 0.3%-0.5% of the general population. Read More

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http://dx.doi.org/10.4103/0971-9784.197847DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290679PMC
March 2017
11 Reads

Cardiac neural crest ablation results in early endocardial cushion and hemodynamic flow abnormalities.

Am J Physiol Heart Circ Physiol 2016 11 19;311(5):H1150-H1159. Epub 2016 Aug 19.

Department of Biomedical Engineering, Case Western Reserve University, Cleveland, Ohio; and

Cardiac neural crest cell (CNCC) ablation creates congenital heart defects (CHDs) that resemble those observed in many syndromes with craniofacial and cardiac consequences. The loss of CNCCs causes a variety of great vessel defects, including persistent truncus arteriosus and double-outlet right ventricle. However, because of the lack of quantitative volumetric measurements, less severe defects, such as great vessel size changes and valve defects, have not been assessed. Read More

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http://dx.doi.org/10.1152/ajpheart.00188.2016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5130492PMC
November 2016
42 Reads

14-3-3epsilon controls multiple developmental processes in the mouse heart.

Dev Dyn 2016 11 18;245(11):1107-1123. Epub 2016 Sep 18.

Department of Pediatrics (Neonatology), University of Utah School of Medicine, Salt Lake City, Utah.

Background: 14-3-3ε plays an important role in the maturation of the compact ventricular myocardium by modulating the cardiomyocyte cell cycle via p27 . 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). Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065397PMC
http://dx.doi.org/10.1002/dvdy.24440DOI Listing
November 2016
33 Reads

Sequential Ligand-Dependent Notch Signaling Activation Regulates Valve Primordium Formation and Morphogenesis.

Circ Res 2016 05 7;118(10):1480-97. Epub 2016 Apr 7.

From the Intercellular Signaling in Cardiovascular Development and Disease Laboratory (D.M., G.D., S.T., B.M.-P., G.L., G.d.M.-N., T.P., M.S., V.B., J.L.d.l.P.), Regulation of Gene Expression in Vascular Endothelium Laboratory (P.G.-d. A., J.M.R.), Bioinformatics Unit (M.J.G.), and Cardiovascular Imaging Laboratory (L.J.J.-B.), Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain; Department of Molecular Biology, Universidad Autónoma de Madrid, Madrid, Spain (P.G.-d. A.); Department of Genetics, Pediatrics, and Medicine, Albert Einstein College of Medicine, New York, NY (B.Z.); and Instituto de Investigación Sanitaria Hospital, Universitario La Princesa, Madrid, Spain (L.J.J.-B.).

Rationale: The Notch signaling pathway is crucial for primitive cardiac valve formation by epithelial-mesenchymal transition, and NOTCH1 mutations cause bicuspid aortic valve; however, the temporal requirement for the various Notch ligands and receptors during valve ontogeny is poorly understood.

Objective: The aim of this study is to determine the functional specificity of Notch in valve development.

Methods And Results: Using cardiac-specific conditional targeted mutant mice, we find that endothelial/endocardial deletion of Mib1-Dll4-Notch1 signaling, possibly favored by Manic-Fringe, is specifically required for cardiac epithelial-mesenchymal transition. Read More

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http://dx.doi.org/10.1161/CIRCRESAHA.115.308077DOI Listing
May 2016
45 Reads

Type 2 diabetes mellitus induces congenital heart defects in murine embryos by increasing oxidative stress, endoplasmic reticulum stress, and apoptosis.

Am J Obstet Gynecol 2016 09 31;215(3):366.e1-366.e10. Epub 2016 Mar 31.

Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Maryland School of Medicine, Baltimore, MD; Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD. Electronic address:

Background: Maternal type 1 and 2 diabetes mellitus are strongly associated with high rates of severe structural birth defects, including congenital heart defects. Studies in type 1 diabetic embryopathy animal models have demonstrated that cellular stress-induced apoptosis mediates the teratogenicity of maternal diabetes leading to congenital heart defect formation. However, the mechanisms underlying maternal type 2 diabetes mellitus-induced congenital heart defects remain largely unknown. Read More

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http://dx.doi.org/10.1016/j.ajog.2016.03.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5260663PMC
September 2016
45 Reads

Connexin45 contributes to global cardiovascular development by establishing myocardial impulse propagation.

Mech Dev 2016 05 23;140:41-52. Epub 2016 Feb 23.

Department of Anatomy and Neurobiology, National Defense Medical College, 3-2 Namiki, Tokorozawa, Saitama 359-8513, Japan. Electronic address:

Among gap junction-encoding genes, the loss of connexin (Cx) 45 most profoundly obstructs embryogenesis through an endocardial cushion defect and conduction block. However, the interdependence of these defects is not known, and the details of conduction block have not been elucidated. Here, we examined mouse embryos with a region-specific deletion of Cx45 in the myocardium (CA-Cre; Cx45(flox/flox)) or endothelium (Tie2-Cre; Cx45(flox/flox)). Read More

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http://dx.doi.org/10.1016/j.mod.2016.02.003DOI Listing
May 2016
52 Reads

Wnt/β-catenin signaling enables developmental transitions during valvulogenesis.

Development 2016 Mar 18;143(6):1041-54. Epub 2016 Feb 18.

Institute of Molecular Biology, University of Oregon, Eugene, OR 97403-1229, USA Department of Biology, University of Oregon, Eugene, OR 97403-1229, USA

Heart valve development proceeds through coordinated steps by which endocardial cushions (ECs) form thin, elongated and stratified valves. Wnt signaling and its canonical effector β-catenin are proposed to contribute to endocardial-to-mesenchymal transformation (EMT) through postnatal steps of valvulogenesis. However, genetic redundancy and lethality have made it challenging to define specific roles of the canonical Wnt pathway at different stages of valve formation. Read More

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http://dx.doi.org/10.1242/dev.130575DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4813288PMC
March 2016
14 Reads

Altered Hemodynamics in the Embryonic Heart Affects Outflow Valve Development.

J Cardiovasc Dev Dis 2015;2(2):108-124. Epub 2015 May 15.

Department of Cell Biology and Anatomy, School of Medicine, University of South Carolina, Columbia, SC 29209, USA; Biomedical Engineering Program, College of Engineering and Computing, University of South Carolina, Columbia, SC 29208, USA.

Cardiac valve structure and function are primarily determined during early development. Consequently, abnormally-formed heart valves are the most common type of congenital heart defects. Several adult valve diseases can be backtracked to abnormal valve development, making it imperative to completely understand the process and regulation of heart valve development. Read More

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http://dx.doi.org/10.3390/jcdd2020108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4751060PMC
May 2015
17 Reads

Dysregulated endocardial TGFβ signaling and mesenchymal transformation result in heart outflow tract septation failure.

Dev Biol 2016 Jan 29;409(1):272-276. Epub 2015 Oct 29.

Broad Center for Regenerative Medicine and Stem Cell Research, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. Electronic address:

Heart outflow tract septation in mouse embryos carrying mutations in retinoic acid receptor genes fails with complete penetrance. In this mutant background, ectopic TGFβ signaling in the distal outflow tract is responsible for septation failure, but it was uncertain what tissue was responsive to ectopic TGFβ and why this response interfered with septation. By combining RAR gene mutation with tissue-specific Cre drivers and a conditional type II TGFβ receptor (Tgfbr2) allele, we determined that ectopic activation of TGFβ signaling in the endocardium is responsible for septation defects. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00121606153009
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http://dx.doi.org/10.1016/j.ydbio.2015.09.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4742370PMC
January 2016
11 Reads

Atrioventricular septal defect: From embryonic development to long-term follow-up.

Int J Cardiol 2016 Jan 26;202:784-95. Epub 2015 Sep 26.

Departments of Cardiology and Anatomy & Embryology, Leiden University Medical Center, Leiden, The Netherlands. Electronic address:

Atrioventricular septal defect (AVSD) covers a spectrum of heart anomalies with a common atrioventricular connection and has an incidence of 4-5.3 per 10.000 live births. Read More

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http://dx.doi.org/10.1016/j.ijcard.2015.09.081DOI Listing
January 2016
37 Reads

Muscleblind-like 1 is required for normal heart valve development in vivo.

BMC Dev Biol 2015 Oct 15;15:36. Epub 2015 Oct 15.

Department of Cellular & Molecular Medicine, Lerner Research Institute, 9500 Euclid Ave. NC10, Cleveland Clinic, Cleveland, OH, 44195, USA.

Background: Development of the valves and septa of the heart depends on the formation and remodeling of the endocardial cushions in the atrioventricular canal and outflow tract. These cushions are populated by mesenchyme produced from the endocardium by epithelial-mesenchymal transition (EMT). The endocardial cushions are remodeled into the valves at post-EMT stages via differentiation of the mesenchyme and changes in the extracellular matrix (ECM). Read More

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http://dx.doi.org/10.1186/s12861-015-0087-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608261PMC
October 2015
18 Reads

Relationship-Based Care for Newborns With Down Syndrome and Endocardial Cushion Defect.

Nurs Womens Health 2015 Oct-Nov;19(5):410-21

Down syndrome with endocardial cushion defect is a challenging diagnosis for parents as well as members of the health care team. Utilizing a framework of relationship-based care, nurses are in a position to positively affect parents' experience by providing education, advocacy, and support from initial diagnosis through discharge. The plan of care is multidisciplinary and focuses on critical developmental needs, such as bonding and feeding. Read More

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http://dx.doi.org/10.1111/1751-486X.12232DOI Listing
February 2017
8 Reads

A Novel Surgical Technique for Repair of Congenitally Corrected Transposition of the Great Arteries With Atrioventricular Septal Defect: Avoiding Damage to the Conduction System.

Ann Thorac Surg 2015 Sep;100(3):1121-3

Division of Cardiac Surgery, Department of Surgery, University of Alberta, Edmonton, Alberta, Canada. Electronic address:

We present a description of the surgical repair of the unusual anatomy of congenitally corrected transposition of the great arteries (S, L, L) and balanced atrioventricular septal defect. This anatomy not only presents a dilemma regarding palliation versus anatomic correction, but also regarding the approach to the conduction tissue during surgical repair. Read More

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http://dx.doi.org/10.1016/j.athoracsur.2015.03.066DOI Listing
September 2015
27 Reads