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'Endocardial Cushion Defects' (953)


Jan
2018

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.

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Dec
2017

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.

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Dec
2017

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).
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.

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Dec
1969

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.

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Jan
2018

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.

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Jan
2018

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.

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Jan
2018

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.

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Dec
1969

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.

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Jul
2017

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.

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Jan
2018

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

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Sep
2017

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.

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Dec
1969

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.

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Jul
2017

A hol(e)y predicament.

Respirol Case Rep 2017 Jul 20;5(4):e00237. Epub 2017 Apr 20.
Shaiva Ginoya Meka, Daniel Shelden, Amy Mertens, Paul Christensen, Meet Patel
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.

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Dec
1969

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.

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May
2017

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.

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May
2017

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

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Nov
2016

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.

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Dec
1969

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.
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).

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May
2016

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

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Dec
1969

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.

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Dec
1969

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)).

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Mar
2016

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.

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Mar
2016

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.

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Jan
2016

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.

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Jan
2016

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.

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Oct
2015

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).

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Oct
2015

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.

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Sep
2015

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.

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Jan
2016

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.

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Jul
2015

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.

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Nov
2015

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.

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Aug
2015

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

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Dec
1969

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.

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Jun
2015

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

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Apr
2015

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.

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Apr
2015

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.

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Feb
2015

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.

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Apr
2015

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).

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Nov
2014

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.

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Jun
2015

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.

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Dec
1969

Endocardial cushion defect (ECD) can be partial (with two distinct valves) or complete (only one atrioventricular valve), and surgical therapy is usually required. The optimal surgical technique is controversial but De Vega's annuloplasty is widely performed. Tricuspid valve thrombosis are rarely seen after surgery.

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Jan
2015

Endothelial-mesenchymal transformation (EndMT) is essential for endocardial cushion formation during cardiac morphogenesis. We recently identified Tmem100 as an endothelial gene indispensable for vascular development. In this study, we further investigated its roles for EndMT during atrioventricular canal (AVC) cushion formation.

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Oct
2014

We sought to identify cardiovascular magnetic resonance (CMR) parameters associated with successful univentricular to biventricular conversion in patients with small left hearts.
Patients with small left heart structures and a univentricular circulation who underwent CMR prior to biventricular conversion were retrospectively identified and divided into 2 anatomic groups: 1) borderline hypoplastic left heart structures (BHLHS), and 2) right-dominant atrioventricular canal (RDAVC). The primary outcome variable was transplant-free survival with a biventricular circulation.

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Aug
2015

CHD is the leading cause of mortality due to birth defects. Array comparative genomic hybridisation (aCGH) detects submicroscopic copy number changes and may improve identification of the genetic basis of CHD.
This is a retrospective analysis of 1252 patients from a regional referral centre who had undergone aCGH.

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Aug
2014

Double outlet right ventricle (DORV) is characterised by arousal of the aorta and the pulmonary vessel from the right ventricle, and is always accompanied by a ventricular septal defect (VSD). Our patient, a twenty days-old female child, presented to the Paediatrics Unit I of Civil Hospital, Karachi, with complaints of generalised cyanosis and reluctance to feed since birth. Apart from the fact that the neonate was cyanosed with increased respiration, the physical examination was unremarkable.

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Aug
2015

A known comorbidity of congenital cardiovascular malformations is low birth weight, but the reasons for this association remain obscure. This retrospective study examines the relationship between congenital cardiovascular malformations and the birth weight of singletons, taking into account differences in gestational age and other factors.
Using data from the retrospective, population-based Baltimore-Washington Infant Study, six types of congenital cardiovascular malformations were investigated in comparison with controls (n=3519) through linear regression: d-transposition of the great arteries (n=187), other conotruncal heart defects (n=361), endocardial cushion defects (n=281), left heart obstructive lesions (n=507), atrial septal defects (n=281), and membranous ventricular septal defects (n=622).

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Aug
2014

To compare the clinical outcomes of minimally invasive right subaxillary vertical thoracotomy and traditional median sternotomy through right atrium in treatment of common congenital heart diseases.
Clinical data of 59 cases of common congenital heart diseases treated with minimally invasive right axillary vertical thoracotomy from May, 2011 to February, 2013 and 77 cases of same diseases with traditional median sternotomy in the past three years were retrospectively analyzed, including atrial septal defect, membranous ventricular septal defect and partial endocardial cushion defect. The results were compared from the two groups, including the time for operation and cardiopulmonary bypass, amount of blood transfusion, postoperative drainage, ventilation time, hospital stay, and prognosis.

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Oct
2014

Valvular heart disease is responsible for considerable morbidity and mortality. Cardiac valves develop as the heart contracts, and they function throughout the lifetime of the organism to prevent retrograde blood flow. Their precise morphogenesis is crucial for cardiac function.

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Dec
2014

Congenital heart disease (CHD) is the most common birth defect in humans. The genetic causes of sporadic CHD remain largely unknown. Bone morphogenetic protein 4 (BMP4), a member of the transforming growth factor-β (TGF-β) family, is required for normal heart development.

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