962 results match your criteria Endocardial Cushion Defects


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
1 Read

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
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
7 Reads
4.973 Impact Factor

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

Prog Biophys Mol Biol 2018 Oct 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
10 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
15 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
4 Reads

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

Sci Rep 2018 Mar 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
4 Reads

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

Cell Death Differ 2018 Jun 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
3 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
13 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
16 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
24 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
13 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
8 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
3 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
8 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
22 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
8 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
15 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
8 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
14 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
19 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
1 Read

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
10 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
2 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
11 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
9 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
21 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
17 Reads
8 Citations
4.704 Impact Factor

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
16 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
5 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
6 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
6 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
7 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
6 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

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
9 Reads

The Natural History of Atrioventricular Valve Regurgitation Throughout Fetal Life in Patients with Atrioventricular Canal Defects.

Pediatr Cardiol 2016 Jan 4;37(1):50-4. Epub 2015 Aug 4.

The Fetal Heart Program, The Children's Hospital of Philadelphia, 34th Street and Civic Center Blvd., Philadelphia, PA, 19104, USA.

Atrioventricular valve regurgitation (AVVR) influences morbidity and mortality in the atrioventricular canal defect (AVC). Fetal cardiac structures are subject to hemodynamic changes, as well as growth and maturation during gestation, which may alter the degree of AVVR and affect prognosis. We sought to investigate the frequency of change in degree of AVVR documented by fetal echocardiography (echo) between different periods of gestational age. Read More

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http://dx.doi.org/10.1007/s00246-015-1237-yDOI Listing
January 2016

[Role of the canonical Wnt signaling pathway in heart valve development].

Zhongguo Dang Dai Er Ke Za Zhi 2015 Jul;17(7):757-62

Department of Cardiovascular Medicine, Children's Hospital of Fudan University, Shanghai 201102, China.

Formation of the heart valves is one of critical steps in vertebrate cardiac development. Valvular heart anomaly can induce severe cardiac impairment, which is one of most common symptoms for congenital heart defects (CHD). The canonical Wnt/β-catenin signaling pathway, which is essential for numerous developmental processes, has also been suggested to be involved in the regulation of proliferation, differentiation, and migration of myocardium, endocardium and valve primordia at different stages. Read More

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July 2015
3 Reads

Endocardial Brg1 disruption illustrates the developmental origins of semilunar valve disease.

Dev Biol 2015 Nov 20;407(1):158-72. Epub 2015 Jun 20.

Institute of Molecular Biology, University of Oregon, Eugene, OR 97403, USA; Department of Biology, University of Oregon, Eugene, OR 97403, USA. Electronic address:

The formation of intricately organized aortic and pulmonic valves from primitive endocardial cushions of the outflow tract is a remarkable accomplishment of embryonic development. While not always initially pathologic, developmental semilunar valve (SLV) defects, including bicuspid aortic valve, frequently progress to a disease state in adults requiring valve replacement surgery. Disrupted embryonic growth, differentiation, and patterning events that "trigger" SLV disease are coordinated by gene expression changes in endocardial, myocardial, and cushion mesenchymal cells. Read More

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http://dx.doi.org/10.1016/j.ydbio.2015.06.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4694578PMC
November 2015
4 Reads

Long-term outcomes after surgical repair of complete atrioventricular septal defect.

J Thorac Cardiovasc Surg 2015 Aug 7;150(2):369-74. Epub 2015 May 7.

Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wis; Department of Internal Medicine, Medical College of Wisconsin, Milwaukee, Wis.

Objective: Survival after surgical repair for complete atrioventricular septal defect (CAVSD) has improved, but patients are at risk for reoperation to address left atrioventricular valve regurgitation and left ventricular outflow tract obstruction. We examined the long-term survival, need for reoperation, and associated risk factors after CAVSD repair at our institution.

Methods: Between 1974 and 2000, a total of 198 patients underwent surgical repair for CAVSD. Read More

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http://dx.doi.org/10.1016/j.jtcvs.2015.05.011DOI Listing
August 2015
15 Reads

PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome.

PLoS One 2015 20;10(4):e0124409. Epub 2015 Apr 20.

Department of Cardiology, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai, China; Department of Cardiovascular Research Laboratory, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai, China; Department of Central Laboratory, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai, China.

Congenital heart disease (CHD), the most common type of birth defect, is still the leading non-infectious cause of infant morbidity and mortality in humans. Aggregating evidence demonstrates that genetic defects are involved in the pathogenesis of CHD. However, CHD is genetically heterogeneous and the genetic components underpinning CHD in an overwhelming majority of patients remain unclear. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0124409PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4404345PMC
February 2016
38 Reads

Early Complete Atrioventricular Canal Repair Yields Outcomes Equivalent to Late Repair.

Ann Thorac Surg 2015 Jun 15;99(6):2109-15; discussion 2115-6. Epub 2015 Apr 15.

Cardiac, Thoracic, and Vascular Surgery, Columbia University Medical Center, New York, New York. Electronic address:

Background: Repair of complete atrioventricular canal early in infancy has traditionally carried greater morbidity and mortality than repair performed later. However, an individualized anatomy-based repair may give young infants outcomes that are equivalent to older patients.

Methods: We retrospectively reviewed 139 patients who underwent complete atrioventricular canal repair from January 2005 to December 2012. Read More

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http://dx.doi.org/10.1016/j.athoracsur.2015.01.063DOI Listing
June 2015
5 Reads
1 Citation
3.850 Impact Factor

Unique combination of atrioventricular septal defect with cor triatriatum and complete vascular ring.

World J Pediatr Congenit Heart Surg 2015 Apr;6(2):332-4

Fundación Favaloro University Hospital, Buenos Aires, Argentina.

Atrioventricular septal defect can present with one or more associated anomalies. Cor triatriatum (subdivided left atrium) and vascular rings are among the less frequent. We describe a two-month-old patient with these three cardiovascular anomalies. Read More

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http://dx.doi.org/10.1177/2150135114564193DOI Listing
April 2015
1 Read

Biventricular repair in heterotaxy patients.

World J Pediatr Congenit Heart Surg 2015 Apr;6(2):195-202

Division of Congenital Cardiac Surgery, Fortis Escorts Heart Institute, New Delhi, Delhi, India.

Background: Heterotaxy patients' hearts may or may not be suitable for biventricular repair depending on anatomy. Even in the subset that are amenable to surgical septation, cardiac anatomy may present multiple difficulties in achieving a satisfactory repair. However, it is also well known that heterotaxy patients are not ideal candidates for univentricular repair. Read More

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http://dx.doi.org/10.1177/2150135114563772DOI Listing
April 2015
9 Reads

Feasibility and early effectiveness of a custom, hand-made systemic atrioventricular valve using porcine extracellular matrix (CorMatrix) in a 4-month-old infant.

Ann Thorac Surg 2015 Feb;99(2):710-2

Division of Pediatric and Congenital Cardiovascular Surgery, Joe DiMaggio Children's Hospital, Hollywood, Florida.

A need persists for a prosthetic, systemic atrioventricular valve replacement in the pediatric population that can be customized to a wide range of annular sizes, has a low risk of thrombosis, possesses optimal hemodynamic performance, and has the potential to remodel and grow with the patient. We describe a technique for successful systemic atrioventricular valve replacement in a 4-month-old infant by use of a handmade, bileaflet systemic atrioventricular prosthesis constructed from porcine extracellular matrix. Read More

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http://dx.doi.org/10.1016/j.athoracsur.2014.04.140DOI Listing
February 2015
1 Read

Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects.

Pediatr Cardiol 2015 Apr 19;36(4):802-8. Epub 2014 Dec 19.

Laboratorio de Biología Molecular, Departamento de Genética Humana, Instituto Nacional de Pediatría, Secretaría de Salud, Insurgentes Sur 3700-C, Insurgentes-Cuicuilco, Coyoacán, CP 04530, Mexico, Distrito Federal, Mexico,

Congenital heart defects (CHD) are found in ~50 % of Down syndrome (DS) patients. Genetic variants have been implicated, including CRELD1 mutations, but no previous study has examined the candidate genes, NKX2-5 and GATA4, in DS patients with secundum atrial defects (ASDII) and ventricular septal defects (VSD). Furthermore, CRELD1 mutations have not yet been studied in Mexican DS patients with atrioventricular septal defects (AVSD). Read More

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http://dx.doi.org/10.1007/s00246-014-1091-3DOI Listing
April 2015
15 Reads
2 Citations
1.550 Impact Factor

Spectrum and features of congenital heart disease in Xi'an, China as detected using fetal echocardiography.

Genet Mol Res 2014 Nov 11;13(4):9412-20. Epub 2014 Nov 11.

Department of Ultrasonography, Maternal and Child Health Hospital of Shaanxi Province, Xi'an, China.

This study aimed to investigate the spectrum and features of congenital heart disease (CHD) in Xi'an, China using fetal echocardiography. All pregnant women referred for fetal echocardiography underwent a systematic fetal echocardiographic examination. Each case of complex defects was diagnosed according to the predominant pathophysiology, and the overall frequency of each defect was recorded and classified according to its location in the fetal heart. Read More

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http://dx.doi.org/10.4238/2014.November.11.6DOI Listing
November 2014

Severe Left Atrioventricular Valve Regurgitation Due to Discontinuity between the Leaflets of the Aortic and Left Atrioventricular Valves in a Patient with Endocardial Cushion Defect: A Rare Case Report.

Echocardiography 2015 Jun 5;32(6):1044-7. Epub 2014 Dec 5.

Mazandaran University of Medical Sciences, Sari, Iran.

Discontinuities between the leaflets of the aortic and left atrioventricular valves are uncommon congenital malformations. The anomaly may be discovered during surgery without preoperative diagnosis. It represents a spectrum of anomalies that result from interruption of the normal development of the endocardial cushions during the fetal life. Read More

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http://dx.doi.org/10.1111/echo.12858DOI Listing
June 2015
13 Reads
1.254 Impact Factor