Complete Endocardial Cushion Defect Research Articles

Cornelia de Lange syndrome type 4 with a novel heterozygous missense variant in RAD 21 gene

Cornelia de Lange syndrome (CdLS) is a congenital multisystemic disorder characterized by genetic heterogeneity. It presents with features such as growth and cognitive retardation, upper limb deformities, cardiac, ophthalmologic, and genitourinary anomalies, alongside distinctive facial characteristics. The CdLS phenotype represents a spectrum that includes both classic and non-classic phenotypes resulting from pathogenic variants in genes associated with cohesin functioning, including NIBPL, SMC1A, SMC3, RAD21, BRD4, HDAC8, and ANKRD11. Mutations in these genes manifest diverse clinical features, with RAD21 variants accounting for a small percentage of cohesinopathies in humans. RAD21-related cohesinopathy typically exhibits growth retardation, minor skeletal anomalies, and facial features overlapping with CdLS. However, cognitive involvement tends to be milder. Despite this, due to the limited number of reported cases with RAD21 mutations, establishing genotype-phenotype correlations remain challenging. We present the case of an 18-month-old boy exhibiting developmental delay and distinct morphological features including micro-brachycephaly, depressed nasal bridge, upturned nose, long philtrum, low-set ears, mesomelic limb dwarfism, and a complete endocardial cushion defect. Exome sequencing revealed a novel RAD21 variant in this individual.

Evaluating Types of TAPVR on Echocardiography and CT Angiography in Paediatric Patients Admitted in Tertiary Care Hospital: A Comparative Study

Objective: To evaluate the types of TAPVR on Echocardiography and CT Angiography in Paediatric Patients Study design: A comparative study Place and Duration: Pediatric cardiology department and CT Angiography department of the National Institute of Cardiovascular Diseases (NICVD) Karachi from January 2019 to December 2021 Methodology: Patients who have TAPVR confirmed by CT angiography and detected by echocardiography were included in the research. Cases having anomalies in the systemic veins were eliminated. Demographic variables (age, gender, weight, etc.), echocardiographic results (such as type of TAPVR, obstructive and non-obstructive), and CT angiography findings were collected for the study using a preset structured proforma. We evaluated the diagnostic disparity between the two modalities. Results: In the present study there were 107 patients, 67.3% were male gender, 56.1% with age less than 6 months, the median age was 6 months, median weight was 4.5 kg. On echocardiography, there were 83.2% non-obstructive, 47.7% supracardiac and 36.4% cardiac TAPVR. On CT angiography, there were 66.4% were non-obstructive, 53.3% supracardiac and 23.4% cardiac TAPVR. Of the associated cardiac diseases, in common 86.9% were found with atrial septal defect, 13.1% were persistent left superior vena cava, 12.1% were patent ductus arteriosus, 8.4% were a ventricular septal defect, 6.5% were of pulmonary atresia, and 3.7% were complete endocardial cushion defect. Conclusion: As compared to echocardiography, CT angiography is more reliable for the detection of obstructive and mixed types of TAPVR. Detection of the supracardiac type of TAPVR is also almost the same as on echocardiography and CT angiography. As compared to CT angiography, echocardiography over diagnoses the non-obstructive type of TAPVR. CT angiogram is also useful in detecting other associated lesions such as heterotaxy, abnormal coronaries, presence of bilateral superior vena cava and coronary sinus. Keywords: TAVPR, echocardiography, CT angiography, cardiac disorders

SMAD2 as risk locus for human left atrial isomerism detected by mother–fetus‐pair exome sequencing and imaging studies

<i>SMAD2</i> as risk locus for human left atrial isomerism detected by mother–fetus‐pair exome sequencing and imaging studies

Identification of Two Novel Mutations from Congenital Heart Defects and Related Cellular Function

ObjectiveCongenital heart defects (CHD) represent the most common congenital anomaly in newborns. The causes of CHD are complex, and are not fully understood. A number of genetic studies have linked gene mutations to cardiac abnormalities. In this study, we found a child who was diagnosed as having a complex including complete endocardial cushion defect, patent ductus arteriosus, secondary atrial septal defect, severe pulmonary hypertension, and polydactyly, we aimed to identify potential pathogenic mutations from this complex.MethodsThe whole blood was collected and genomic DNA was extracted to identify mutations by whole exome sequencing (WES). The CRISPR/Cas9 system was used to generate human pluripotent stem cell with mutations (hPSC‐Mut) separately. As pluripotency markers, Oct4, Nanog, Klf4, SSEA4 were tested in hPSC‐Mut cell, by the methods of Immunofluorescence, Real‐Time PCR, Western Blot. The hPSC‐Mut cell was then inducted and differentiated into cardiomyocytes (CM‐Mut), The differentiation efficiency and contraction of CM‐Mut was detected in 0d, 2d, 4d, 8d, 13d.ResultTwo heterozygous mutations, LTBP2 (c.2206G&gt;A), TCTN3 (c.1268G&gt;A) were identified via WES and analysed by bioinformatics. The hPSC‐LT/TC stable cell line was constructed, inducted and differentiated into CM‐LT/TC. Compare to the wild type, there were no significant differences in cell pluripotency and differentiation efficiency. The cell contraction was observed in the 8th day and lasted to the 13rd day, the contraction of CM‐LT was faster and CM‐LT was slower than wild type cell line.ConclusionTwo heterozygous mutations LTBP2 (c.2206G&gt;A) and CTN3 (c.1268G&gt;A) with alteration of the contraction of CM‐LT/LT cell were found to be pathogenic in complex CHD.Support or Funding InformationNational Natural Science Foundation of China (81870288, 81641017), National Central Grants for Research Institute (2017NL31001), Binhai New Area Health Bureau ( 2016BWKZ 003).This abstract is from the Experimental Biology 2019 Meeting. There is no full text article associated with this abstract published in The FASEB Journal.

Bi-Luminal Mitral Valve: Incidence, Clinical Features, Associated Anomaly and Echocardiographic Evaluation.

ObjectiveThe aim of the study was to know the incidence, clinical features, associated anomaly and echocardiographic evaluation of bi-luminal mitral valve (also known as double orifice mitral valve or DOMV) in patients with suspected mitral valve disease, continous murmur or left-to-right shunt.MethodsTwenty-eight patients with DOMV were diagnosed by transthoracic echocardiography (TTE) in a retrospective review of 52,256 echocardiographic studies in 45,898 patients performed between 2000 and 2015.ResultsThe mean age was 20.1 years (15 - 34 years) with female preponderance (M/F: 1:1.8). Dyspnea and diastolic murmur were the most common symptoms found in 19 (67.8%) and 19 (67.8%) of patients, respectively. Normal sinus rhythm was the most common electrocardiographic finding. Twenty-five (89%) patients had complete bridge, while three (11%) had incomplete bridge type of DOMV. Twenty-one (75%) had severe mitral stenosis (MS) including severe tricuspid regurgitation (n = 13, 61%), ventricular septal defect (VSD, n = 3, 14%), complete endocardial cushion defect (ECD, n = 3, 14%), and mild to moderate mitral regurgitation (MR) (n = 2, 11%), moderate MS and moderate MR were found in four (16%) patients among complete bridge type of DOMV, while all patients with incomplete bridge type had severe MS and patent ductus arteriosus (PDA) as associated lesions. Overall, 24 (85%) had severe and four (15%) had moderate MS.ConclusionsDOMV as a cause of symptomatic mitral valve disease was seen in young and middle-aged patients with estimated incidence of 0.06%. Dyspnea and diastolic murmur were the most common symptoms. Mostly, it was an isolated anomaly but in majority, associated with VSD, complete ECD and PDA. TTE examination is a reliable and sufficient means of diagnosing DOMV and determining its type.

HDlive Image of Fetal Endocardial Cushion Defect

ABSTRACT We present our first experience of constructing an image of a fetal endocardial cushion defect (ECD) employing HDlive at 21 weeks and 3 days of gestation. Conventional two-dimensional (2D) echocardiography showed an atrioventricular septal defect, bilateral ventricular hypertrophy and massive pericardial effusion. Two-dimensional color Doppler ultrasound revealed atrioventricular valve regurgitation in systole. HDlive clearly demonstrated a glossy atrial septal defect, common atrioventricular valve and bilateral ventricular hypertrophy. Moreover, free, floating leaflets of the common atrioventricular valve not attached to the interventricular septum were suspected using HDlive. These findings suggested complete ECD with congestive heart failure. HDlive provided us with a new, realistic, and arguably much improved view of the complexities and interrelationships of intracardiac structures in a case of fetal ECD. HDlive may assist in the evaluation of fetal EDC, and offer potential advantages relative to conventional 2D fetal echocardiography. How to cite this article AboEllail MAM, Hanaoka U, Mashima M, Kawanishi K, Hata T. HDlive Image of Fetal Endocardial Cushion Defect. Donald School J Ultrasound Obstet Gynecol 2014;8(4):437-439.

Complete endocardial cushion defects in pregnancy: a case report

IntroductionComplete endocardial cushion defect is a congenital heart disease characterized by a variable deficiency of the atrioventricular area in the developing heart. The mortality rate for an unrepaired endocardial cushion defect in pregnancy and the postpartum period is high.Case presentationWe present a rare case of a pregnant woman with complete endocardial cushion defect. A 20-year-old Chinese woman with unrepaired complete endocardial cushion defect delivered a premature male baby at 33 weeks and six days of pregnancy in our hospital. The baby had a normal human karyotype and a birth defect of hypospadias deformity. Our patient died from heart failure 10 minutes after delivery. She had severe pulmonary hypertension and suspected trisomy 21.ConclusionOur experience further emphasizes the necessity of prenatal screening for congenital heart defects and of prompt surgical correction for endocardial cushion defects during infancy. Mortality for endocardial cushion defect during pregnancy and the postpartum period is high and women with complete endocardial cushion defect should avoid pregnancy, especially those women who cannot intellectually judge their risks.

515 A Rare Case of Langdon down Syndrome with Complete Endocardial Cushion Defect, Tetralogy of Fallot, Deficiency of Factor vii

AimsWe sought to summarize a very rare association between multiple rare incidence diseases in a patient with Langdon-Down syndrome and also to correctly document each pathology and use the best...

Structure of the Lectin Regulatory Domain of the Cholesterol-Dependent Cytolysin Lectinolysin Reveals the Basis for Its Lewis Antigen Specificity

The cholesterol-dependent cytolysins (CDCs) punch holes in target cell membranes through a highly regulated process. Streptococcus mitis lectinolysin (LLY) exhibits another layer of regulation with a lectin domain that enhances the pore-forming activity of the toxin. We have determined the crystal structures of the lectin domain by itself and in complex with various glycans that reveal the molecular basis for the Lewis antigen specificity of LLY. A small-angle X-ray scattering study of intact LLY reveals the molecule is flat and elongated with the lectin domain oriented so that the Lewis antigen-binding site is exposed. We suggest that the lectin domain enhances the pore-forming activity of LLY by concentrating toxin molecules at fucose-rich sites on membranes, thus promoting the formation of prepore oligomers on the surface of susceptible cells.

Surgical Repair of a Complete Endocardial Cushion Defect in a Dog

To describe surgical repair of a complete endocardial cushion defect (ECD) in a dog. Clinical report. A 5-month-old, 9.2 kg male Shetland sheepdog. Echocardiographic examination revealed an ostium primum atrial septal defect (ASD), an inlet ventricular septal defect (VSD), mitral regurgitation (MR) and tricuspid regurgitation (TR), and a complete ECD was diagnosed. Surgical correction was performed using cardiopulmonary bypass (CPB) via right atriotomy. A polytetrafluoroethylene (PTFE) patch was secured along the margin of the inlet VSD using simple continuous suture, then the cleft in the septal mitral leaflet was sutured. Similarly, the cleft in the septal tricuspid leaflets was sutured. To complete inlet VSD closure, the VSD patch was secured to these sutured leaflets by simple continuous suture. Another PTFE patch was used to close the ostium primum ASD. After surgery, MR, TR, and interventricular shunting were decreased. The dog was alive 6 years and 5 months after the surgery with no evidence of an interventricular shunt, TR, or other clinical signs. Complete ECD in a dog was corrected using a 2-patch technique under CPB.

Complete atrioventricular canal in a dog

This report details a case of complete, type A atrioventricular (AV) canal, also called complete endocardial cushion defect, in a young dog. Complete AV canal is classified as three types: A, B or C depending on the degree of linkage between common AV valve and ventricular chambers. Despite the defect this dog, which did not undergo surgical treatment, remains in ISACHC class Ib 19 months after the initial diagnosis.

Anesthetic management of pheochromocytoma resection in a patient with F4 and a complete endocardial cushion defect

Acta Anaesthesiologica ScandinavicaVolume 54, Issue 6 p. 785-786 Anesthetic management of pheochromocytoma resection in a patient with F4 and a complete endocardial cushion defect F. Zhang, F. ZhangSearch for more papers by this authorW. Gu, W. GuSearch for more papers by this authorR. Dong, R. DongSearch for more papers by this authorQ. Dong, Q. DongSearch for more papers by this authorB. Yu, B. YuSearch for more papers by this author F. Zhang, F. ZhangSearch for more papers by this authorW. Gu, W. GuSearch for more papers by this authorR. Dong, R. DongSearch for more papers by this authorQ. Dong, Q. DongSearch for more papers by this authorB. Yu, B. YuSearch for more papers by this author First published: 01 June 2010 https://doi.org/10.1111/j.1399-6576.2009.02188.xCitations: 3 Address:Buwei YuDepartment of AnesthesiologyRuijin HospitalJiaotong University School of MedicineRuijin RoadShanghai 200025Chinae-mail: yubuwei@yahoo.com.cn Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume54, Issue6July 2010Pages 785-786 RelatedInformation

64-Slice MDCT imaging of endocardial cushion defect associated with other cardiac and extracardiac abnormalities

Electrocardiographic-gated 64-slice multidetector computed tomography (MDCT) was performed on a 30-year-old man who presented with a complete endocardial cushion defect (ECD) and severe pulmonary hypertension diagnosed when he was 3 years old. Multiplanar reconstruction image showed the common atrium without an atrial septum, a large ventricular septum defect, and a small right ventricle due to a complete atrioventricular canal defect. Three-dimensional CT volume-rending imaging showed a patent ductus arteriosus, dilation of the ascending aorta, and an anomalous-origin right coronary artery. This patient also had heterotaxy syndrome with polysplenia and azygos continuation. MDCT proved to be a good noninvasive imaging method for the evaluation of ECD associated with cardiac as well as extracardiac abnormalities.

Complete atrioventricular canal defect in a foal: Clinical and pathological features

Atrioventricular (AV) canal defects comprise a rare category of congenital heart disease associated with abnormal development of the endocardial cushions. These anomalies include a broad spectrum of lesions involving the atrial septum primum, the inlet portion of the ventricular septum, and the atrioventricular valves. In severe cases heart failure may result. The present report describes cardiopulmonary findings in a six-week-old, female Thoroughbred foal with persistent tachypnea and tachycardia since birth. Clinical, echocardiographic, cardiac catheterization, and pathologic findings were compatible with complete AV canal defect with bi-directional shunting, congestive heart failure, and pulmonary hypertension. Gross cardiac pathologic findings included a large atrioventricular septal defect, a common atriovalvular orifice, five atrioventricular leaflets, with two free-floating bridging leaflets. Histopathologic lesions in the lung included hypertrophy of the pulmonary arteriolar walls due to thickening of the tunica media. This represents a well documented case of complete endocardial cushion defect with anomalous development of the atrioventricular valves and resultant pulmonary hypertension and heart failure.

Ｔｗｏ‐ｐａｔｃｈ法による完全型心内膜床欠損の外科治療成績の検討

Ｔｗｏ‐ｐａｔｃｈ法による完全型心内膜床欠損の外科治療成績の検討

Plasma and right auricle concentrations of atrial natriuretic polypeptide in children with cardiac diseases

To investigate the atrial natriuretic polypeptide (ANP) levels in congenital heart diseases, we measured plasma immunoreactive ANP (ir-ANP) in 29 patients with left-to-right shunt, and right auricle ir-ANP in 25 patients who underwent operation. The levels of ir-ANP in the pulmonary artery correlated with that in the femoral vein (r = 0.95, P less than 0.001), mean pulmonary arterial pressure (r = 0.74, P less than 0.001) and right atrial pressure (r = 0.53, P less than 0.01). The right auricle ir-ANP level was high in patients with heart failure combined with pressure or volume overload of the right atrium, as observed in tricuspid atresia, complete endocardial cushion defect, and total anomalous pulmonary venous drainage. These results suggest that the production of ANP in the atrium increases as a compensatory or secondary response to persistent release of ANP into the circulation in cardiac diseases.

Complete Endocardial Cushion Defect: The Late Result of Repair Using the Single-Patch Technique

Twenty-two patients have been followed for between 1 and 105 months after repair of a complete endocardial cushion defect. The mean period of follow-up is 3.5 years. The single-patch technique was used in every patient. The mitral valve was repaired with buttressed sutures in those seen more recently. The mean age at the time of operation was 15 months. Early in this experience, 4 patients had severe mitral valve incompetence after an initially satisfactory repair. In none of those patients had the mitral valve been repaired with pledgeted sutures. Two of those patients survived reoperation, and 2 died before a second operation could be performed. Every mitral valve is now repaired with pledgeted sutures, and there have been no failures of the mitral valve reconstruction. Each patient has been followed by the same pediatric cadiologist every 6 to 12 months after operation. The vast majority (17 of 20) are asymptomatic. Twelve have no mitral valve incompetence, and the remainder have only trivial or mild incompetence. Clinically, the pulmonary artery hypertension has resolved in 19 of 20 patients. Each patient remains in normal sinus rhythm. The long-term results following repair of complete endocardial cushion defect with the single-patch technique are excellent, but pledgeted sutures should be used in the mitral valve repair to insure its integrity.

Unusual mitral valve abnormalities complicating surgical repair of endocardial cushion defects

A review of 155 cases of surgically repaired endocardial cushion defects revealed 16 patients (10%) with additional unusual mitral valve abnormalities that complicated the surgical procedure. Eight patients had accessory mitral valve tissue that connected the anterior and posterior leaflets to form a double-orifice valve (Group I). In four (50%), the lesion was associated with intermediate atrioventricular canal and small left ventricle; all four died following repair. In the other four, it was associated with ostium primum defect; all survived and are well. A single papillary muscle in the left ventricle was present in six patients (Group II). Two had intermediate atrioventricular canal and both died postoperatively. The other four had complete endocardial cushion defect and three are well following the operation. Perforation of the valve leaflets was present in two patients with ostium primum (Group III). Both patients are well postoperatively. Modification of the surgical technique is required to effect satisfactory repair. The bridge connecting the posterior and anterior leaflets of the mitral valve should be left undisturbed. Otherwise, severe regurgitation may result. In patients with single papillary muscle and complete atrioventricular canal, repair may be accomplished by borrowing from the tricuspid portion of the anterior leaflet, rotating that part posteriorly, and partially closing the cleft. Small perforations of the mitral leaflet do not require closure and do not result in regurgitation. Echocardiographic and angiographic delineation of these abnormalities and thorough intraoperative exploration are important in avoiding pitfalls at the time of repair.

Subacute Bacterial Endocarditis and Complete Endocardial Cushion Defect

Subacute bacterial endocarditis involving the common atrioventricular (AV) valve is a rare complication of complete endocardial cushion defect. This report describes our experience with an 18-year-old patient who was seen with this problem. Diagnosis was established by two-dimensional echocardiography. The operative findings and technique of repair are described. We believe this to be among the first successful reports of complete repair of active endocarditis involving the common AV valve in this congenital anomaly.

Two dimensional echocardiography in congenital heart disease

Two dimensional echocardiography has enhanced the ability of the clinician to define accurately intracardiac anatomy and great vessel relations. By visualizing relations of the great arteries and determining ventricular situs in the parasternal short axis planes and by assessing the relation of the great arteries to ventricles, atrioventricular (A-V) valves and the interventricular septum in the parasternal and apical long axis view, complex congenital heart disorders can readily be differentiated. The subcostal approach allows accurate identification and localization of interatrial and interventricular septal defects. Utilizing the apical parasternal four chambered or subcostal four chambered view, complex malformations of the A-V valves such as complete endocardial cushion defect and Ebstein's anomaly can readily be appreciated. The suprasternal approach has allowed direct visualization of a coarcted aortic segment. The differentiation of left and right ventricular outflow obstruction is also possible. In some patients, it is possible to achieve an accurate diagnosis with two dimensional echocardiography alone. In others, two dimensional echocardiography provides accurate and detailed information with regard to spatial anatomy and valve morphology so that invasive studies can be performed more expeditiously, with less contrast agent and hence with greater safety. With regard to future developments, better resolution capability with newer instrumentation and combined two dimensional echocardiography with Doppler blood flowmeter studies may provide even greater diagnostic accuracy in the evaluation of patients with congenital heart disorders.