endocardial cushion defects


Summary: A spectrum of septal defects involving the ATRIAL SEPTUM; VENTRICULAR SEPTUM; and the atrioventricular valves (TRICUSPID VALVE; BICUSPID VALVE). These defects are due to incomplete growth and fusion of the ENDOCARDIAL CUSHIONS which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.

Top Publications

  1. Varma P, Warrier G, Ramachandran P, Neema P, Manohar S, Titus T, et al. Partial atrioventricular canal defect with cor triatriatum sinister: report of three cases. J Thorac Cardiovasc Surg. 2004;127:572-3 pubmed
  2. Sheffield V, Pierpont M, Nishimura D, Beck J, Burns T, Berg M, et al. Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis. Hum Mol Genet. 1997;6:117-21 pubmed
    ..Furthermore, our data demonstrate the power of using key isolated kindreds in combination with high density genomic screens to identify loci involved in complex disorders such as congenital heart defects. ..
  3. Wang B, Weidenfeld J, Lu M, Maika S, Kuziel W, Morrisey E, et al. Foxp1 regulates cardiac outflow tract, endocardial cushion morphogenesis and myocyte proliferation and maturation. Development. 2004;131:4477-87 pubmed
  4. Vida V, Barnoya J, Larrazabal L, Gaitan G, de Maria Garcia F, Castañeda A. Congenital cardiac disease in children with Down's syndrome in Guatemala. Cardiol Young. 2005;15:286-90 pubmed
    ..This difference warrants further research. ..
  5. Pierpont M, Markwald R, Lin A. Genetic aspects of atrioventricular septal defects. Am J Med Genet. 2000;97:289-96 pubmed
    ..Studies of transcription factors and signaling molecules in heart development over the past decade are paving the way for our understanding of the heterogeneous mechanisms of causation of AVSDs. ..
  6. Digilio M, Marino B, Toscano A, Giannotti A, Dallapiccola B. Atrioventricular canal defect without Down syndrome: a heterogeneous malformation. Am J Med Genet. 1999;85:140-6 pubmed
    ..The peculiar anatomic subtypes of this cardiac defect are associated with specific genetic conditions...
  7. Jain R, Engleka K, Rentschler S, Manderfield L, Li L, Yuan L, et al. Cardiac neural crest orchestrates remodeling and functional maturation of mouse semilunar valves. J Clin Invest. 2011;121:422-30 pubmed publisher
    ..Hence, defects of cardiac neural crest can result in functionally abnormal semilunar valves and concomitant aortic arch artery abnormalities. ..
  8. Alcíbar Villa J, Pérez Asenjo J, San Román K. [Left main coronary artery compression in partial endocardial cushion defect. Stent implantation]. Rev Esp Cardiol. 2006;59:1194 pubmed
  9. Nagy Z, Heinemann M, Schmid E, Ziemer G. Successful repair of intraoperative type-A dissection in an infant. Eur J Cardiothorac Surg. 2002;22:636-7 pubmed
    ..At 1 year of follow-up the imaging studies show a normal appearance of the operation site. ..

More Information


  1. Neema P, Duara R, Manikandan S, Rathod R. Total anomalous pulmonary venous connection in a patient with situs inversus and dextrocardia: which internal jugular vein to cannulate, right or left?. J Cardiothorac Vasc Anesth. 2006;20:632-3 pubmed
  2. Jedlinski I, Kalawski R, Bugajski P, Jamrozek Jedlińska M, Poprawski K, Słomczyński M. [Infective endocarditis of both atrioventricular valves in a young man with atrioventricular canal defect - a case report]. Kardiol Pol. 2009;67:1004-6 pubmed
    ..The patient received a combined antibiotic therapy and was qualified for cardiosurgical correction. ..
  3. Vida V, Sanders S, Milanesi O, Stellin G. Biventricular repair of right-dominant complete atrioventricular canal defect. Pediatr Cardiol. 2006;27:737-40 pubmed
  4. Robinson J, Marx G, del Nido P, Lock J, McElhinney D. Effectiveness of balloon valvuloplasty for palliation of mitral stenosis after repair of atrioventricular canal defects. Am J Cardiol. 2009;103:1770-3 pubmed publisher
    ..Because BMV can incompletely relieve obstruction and increase mitral regurgitation, it will not be definitive in most patients but will usually delay MV replacement to accommodate a larger prosthesis. ..
  5. Alexi Meskishvili V, Dähnert I, Beyer E, Hetzer R. Successful total correction of complete atrioventricular canal, total anomalous pulmonary venous drainage and unroofed coronary sinus in an infant. Eur J Cardiothorac Surg. 1999;15:95-6 pubmed
    ..A homograft vein was used to connect the proximal left superior vena cava to the right atrium and can be recommended when other methods of correction of unroofed coronary sinus cannot be used. ..
  6. Peal D, Burns C, Macrae C, Milan D. Chondroitin sulfate expression is required for cardiac atrioventricular canal formation. Dev Dyn. 2009;238:3103-10 pubmed publisher
  7. Costell M, Carmona R, Gustafsson E, González Iriarte M, Fassler R, Muñoz Chápuli R. Hyperplastic conotruncal endocardial cushions and transposition of great arteries in perlecan-null mice. Circ Res. 2002;91:158-64 pubmed
    ..Thus, perlecan is involved in the control of the outflow tract mesenchymal population size, underscoring the importance of the extracellular matrix in cardiac morphogenesis. ..
  8. Miller Hance W, Silverman N. Transesophageal echocardiography (TEE) in congenital heart disease with focus on the adult. Cardiol Clin. 2000;18:861-92 pubmed
    ..The experience supports the use of TEE as a useful approach in the surveillance of the adult with operated and unoperated congenital heart disease...
  9. Kirali K, Mansuroglu D, Ozen Y, Bozbuga N, Tuncer A, Toker M, et al. Mitral clefts and interatrial septum defects: 15-year results. Asian Cardiovasc Thorac Ann. 2003;11:135-8 pubmed
    ..Freedom from reoperation was 92.2% +/- 5.6% at 15 years. Surgical intervention can be performed for congenital anterior mitral leaflet cleft and interatrial septal defect with good results in both pediatric and adult age groups. ..
  10. Pretre R, Dave H, Kadner A, Bettex D, Turina M. Direct closure of the septum primum in atrioventricular canal defects. J Thorac Cardiovasc Surg. 2004;127:1678-81 pubmed
    ..The surgical result and heart rhythm have remained stable over time. Direct closure of the septum primum is an easy, quick, and safe procedure during repair of atrioventricular defects. ..
  11. Yasui H, Morishima M, Nakazawa M, Aikawa E. Anomalous looping, atrioventricular cushion dysplasia, and unilateral ventricular hypoplasia in the mouse embryos with right isomerism induced by retinoic acid. Anat Rec. 1998;250:210-9 pubmed
    ..Thus, we clarified that retinoic-acid treatment at the primitive streak stage disturbed cardiac looping and formation of atrioventricular cushion development, which secondarily influenced ventricular chamber development. ..
  12. Davey B, Thacker D, Rychik J. Atrioventricular valve regurgitation in the fetus with atrioventricular canal defect: transition from prenatal to postnatal life. Pediatr Cardiol. 2013;34:1797-802 pubmed publisher
    ..AVVR appreciated in utero is predictive of neonatal regurgitation in the majority of patients. These findings have implications for the counseling and management of the fetus with AV canal defect. ..
  13. Frank J, Beck D. Congenital endocardial cushion defect detected during uncomplicated pregnancy: a case report. J Reprod Med. 2012;57:449-51 pubmed
    ..While rare, since the signs and symptoms of congenital heart disease may also occur in normal pregnant women, it is important for the clinician to be aware that structural heart lesions are part of the differential diagnosis. ..
  14. Briggs L, Kakarla J, Wessels A. The pathogenesis of atrial and atrioventricular septal defects with special emphasis on the role of the dorsal mesenchymal protrusion. Differentiation. 2012;84:117-30 pubmed publisher
    ..Here, we discuss in detail the formation of the DMP, its contribution to cardiac septation and describe the morphological features as well as potential etiologies of ASDs and AVSDs. ..
  15. Muller A, Sarioglu N. [Congenital heart defects of the septa, endocardial cushions and the conotruncus]. Pathologe. 2012;33:205-16 pubmed publisher
    ..Therefore, characteristic and distinguishing features of septal defects including atrioventricular septal defects are presented, especially as the latter are part of complex heart defects, such as conotruncal heart malformations. ..
  16. Reutter H, Betz R, Ludwig M, Boemers T. MTHFR 677 TT genotype in a mother and her child with Down syndrome, atrioventricular canal and exstrophy of the bladder: implications of a mutual genetic risk factor?. Eur J Pediatr. 2006;165:566-8 pubmed
    ..that the MTHFR 677TT could be a mutual genetic risk factor for the co-occurrence of trisomy 21 and midline defects, the risk of which may be reduced by periconceptional folic acid supplementation. ..
  17. Stainier D, Beis D, Jungblut B, Bartman T. Endocardial cushion formation in zebrafish. Cold Spring Harb Symp Quant Biol. 2002;67:49-56 pubmed
  18. Phillips H, Mahendran P, Singh E, Anderson R, Chaudhry B, Henderson D. Neural crest cells are required for correct positioning of the developing outflow cushions and pattern the arterial valve leaflets. Cardiovasc Res. 2013;99:452-60 pubmed publisher
  19. Moran A, Daebritz S, Keane J, Mayer J. Surgical management of mitral regurgitation after repair of endocardial cushion defects: early and midterm results. Circulation. 2000;102:III160-5 pubmed
    ..MR can be successfully managed in patients after repair of AVSD independent of morphological type. Overall survival is acceptable, and further reoperation within the MVP group is influenced by early outcome of repair. ..
  20. Giamberti A, Kalis N, Anderson R, de Leval M. Atrioventricular septal defect with 'absent' pulmonary valve in the setting of Down's syndrome: a rare association. Eur J Cardiothorac Surg. 2001;20:1252-4 pubmed
    ..Diagnostic imaging also revealed the presence of an anomalous high origin of the right coronary artery from the ascending aorta. Surgical repair was successful. ..
  21. Enciso J, Gratzinger D, Camenisch T, Canosa S, Pinter E, Madri J. Elevated glucose inhibits VEGF-A-mediated endocardial cushion formation: modulation by PECAM-1 and MMP-2. J Cell Biol. 2003;160:605-15 pubmed
  22. Kumada T, Hattori H, Doi H, Shiraishi K, Yamanaka Y, Kato T, et al. [Postoperative complete atrioventricular block induced by carbamazepine in a patient with congenital heart disease]. No To Hattatsu. 2005;37:257-61 pubmed
    ..Although reports of similar cases are scarce, caution should be made in prescribing CBZ to patients who either have cardiac conduction abnormalities or undergo cardiac surgery. ..
  23. Vaughan C, Basson C. Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus. Am J Med Genet. 2000;97:304-9 pubmed
    ..Ongoing analyses are poised to determine the contribution of these genes as well as others yet to be identified to common, sporadic forms of congenital heart disease. ..
  24. Oyama N, Goto D, Sasaki T, Tsutsui H, Tamaki N, Terae S, et al. 64-Slice MDCT imaging of endocardial cushion defect associated with other cardiac and extracardiac abnormalities. J Cardiovasc Comput Tomogr. 2010;4:218-20 pubmed publisher
    ..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. ..
  25. Chikada M, Sekiguchi A, Miyamoto T, Matsuzaki M, Ishida R, Ishizawa A. Direct closure of ostium primum defect in the repair of atrioventricular septal defect. Ann Thorac Surg. 2001;72:430-2; discussion 432-3 pubmed
    ..This method simplifies the repair of atrioventricular septal defects. In the short-term results, no arrhythmia and no valve regurgitation was seen. ..
  26. Agopian A, Moulik M, Gupta Malhotra M, Marengo L, Mitchell L. Descriptive epidemiology of non-syndromic complete atrioventricular canal defects. Paediatr Perinat Epidemiol. 2012;26:515-24 pubmed publisher
    ..37), gestational diabetes (aPR 1.69; 95% CI 1.03, 2.79) and obesity (aPR 1.69; 95% CI 1.24, 2.30). ?Our findings add non-syndromic CAVC to the growing list of birth defects that appear to be associated with maternal diabetes and obesity. ..
  27. Stephen L, Fawkes A, Verhoeve A, Lemke G, Brown A. A critical role for the EphA3 receptor tyrosine kinase in heart development. Dev Biol. 2007;302:66-79 pubmed
    ..Thus our results indicate that EphA3 plays a crucial role in the development and morphogenesis of the cells that give rise to the atrioventricular valves and septa. ..
  28. Masuda M, Kado H, Kajihara N, Onzuka T, Kurisu K, Morita S, et al. Early and late results of total correction of congenital cardiac anomalies in infancy. Jpn J Thorac Cardiovasc Surg. 2001;49:497-503 pubmed
  29. Kaur A, Srivastava S, Lytrivi I, Nguyen K, Lai W, Parness I. Echocardiographic evaluation and surgical implications of common atrioventricular canal defects with absent or diminutive ostium primum defect. Am J Cardiol. 2008;101:1648-51 pubmed publisher
    ..Surgical challenges involve attaining adequate exposure of the mitral component and achieving mitral valve competence. ..
  30. Yan M, Sinning A. Retinoic acid administration is associated with changes in the extracellular matrix and cardiac mesenchyme within the endocardial cushion. Anat Rec. 2001;263:53-61 pubmed
  31. Davey B, Rychik J. The Natural History of Atrioventricular Valve Regurgitation Throughout Fetal Life in Patients with Atrioventricular Canal Defects. Pediatr Cardiol. 2016;37:50-4 pubmed publisher
    ..These findings have implications for the counseling, follow-up, and delivery plans of the fetus with AVC defect. ..
  32. Garg R, Murthy K, Rao S, Muralidhar K. Intra-operative trans-esophageal echocardiography in congenital heart disease. Ann Card Anaesth. 2009;12:166 pubmed publisher
    ..Before surgical correction, TEE helps confirm diagnosis and spot any additional lesion, while after the surgical correction, it provides baseline parameters for comparison after the surgical correction. ..
  33. Nathan M, Liu H, Pigula F, Fynn Thompson F, Emani S, Baird C, et al. Biventricular conversion after single-ventricle palliation in unbalanced atrioventricular canal defects. Ann Thorac Surg. 2013;95:2086-95; discussion 2095-6 pubmed publisher
    ..Biventricular conversion from failing SV palliation in UCAVC can be accomplished with an acceptable early and late morbidity and mortality, although need for reintervention was not uncommon. ..
  34. Durán A, Fernández Gallego T, Fernandez B, Fernandez M, Arqué J, Sans Coma V. Solitary coronary ostium in the aorta in Syrian hamsters. A morphological study of 130 cases. Cardiovasc Pathol. 2005;14:303-11 pubmed
    ..In addition, they indicate that the branching mode of the coronary tree and the condition of the aortic valve are independent traits. ..
  35. Laforest B, Nemer M. GATA5 interacts with GATA4 and GATA6 in outflow tract development. Dev Biol. 2011;358:368-78 pubmed publisher
    ..The data identify GATA5 as a potential genetic modifier of congenital heart disease and provide insight for elucidating the genetic basis of an important class of human birth defects. ..
  36. Gruber P, Kubalak S, Pexieder T, Sucov H, Evans R, Chien K. RXR alpha deficiency confers genetic susceptibility for aortic sac, conotruncal, atrioventricular cushion, and ventricular muscle defects in mice. J Clin Invest. 1996;98:1332-43 pubmed
  37. Toh N, Kanzaki H, Nakatani S, Kohyama K, Ohara T, Kim J, et al. Partial atrioventricular septal defect assessed by real-time three-dimensional echocardiography: a case report. J Cardiol. 2007;50:379-82 pubmed
    ..No shunt through the pouch at the membranous part, left ventricular outflow obstruction, or partial anomalous pulmonary venous connection was observed. RT-3DE is quite useful to describe complicated congenital heart disease. ..
  38. Adachi I, Ho S, Bartelings M, McCarthy K, Seale A, Uemura H. Common arterial trunk with atrioventricular septal defect: new observations pertinent to repair. Ann Thorac Surg. 2009;87:1495-9 pubmed publisher
    ..Owing to the unique ventriculoarterial connection, the surgeon, considering anatomical repair, needs to pay attention to the anterosuperior margin of the ventricular scoop, which determines the adequacy of left ventricular outflow size. ..
  39. Alcalde M, Castillo J, García Urruticoechea P, Vilaplana R, Molina E, Ortega J. [Ellis-van Creveld syndrome: an easy early diagnosis?]. Rev Esp Cardiol. 1998;51:407-9 pubmed
    ..The cases of two gypsy brothers with Ellis-Van Creveld syndrome and congenital heart disease (ostium primum atrial septal defect and single atrium), diagnosed during adulthood, are presented...
  40. Ito H, Sobue K, So M, Sugiura T, Sasano H, Takeuchi A, et al. Postextubation airway management with nasal continuous positive airway pressure in a child with Down syndrome. J Anesth. 2006;20:106-8 pubmed
  41. Dragulescu A, Ghez O, Fraisse A, Gaudart J, Amedro P, Kreitmann B, et al. [Long-term results of complete atrio-ventricular canal correction]. Arch Mal Coeur Vaiss. 2007;100:416-21 pubmed
    ..The closure of the left atrio-ventricular valve cleft, mostly partial, is frequently performed. Patients with the Down syndrome have a better vital prognosis and lower rates of long-term redo surgery. ..
  42. Mann D, Qu J, Mehta V. Congenital heart diseases with left-to-right shunts. Int Anesthesiol Clin. 2004;42:45-58 pubmed
  43. Aeba R, Katogi T, Kashima I, Mitsumaru A, Takeuchi S, Kawada S. Placement of interatrial patch suture lines in atrioventricular canal defect repair. J Cardiovasc Surg (Torino). 2000;41:523-7 pubmed
    ..This suture technique for interatrial patches is straightforward and results in a low incidence of heart block and a low re-operation rate for left atrioventricular valve insufficiency. ..
  44. Barrea C, Levasseur S, Roman K, Nii M, Coles J, Williams W, et al. Three-dimensional echocardiography improves the understanding of left atrioventricular valve morphology and function in atrioventricular septal defects undergoing patch augmentation. J Thorac Cardiovasc Surg. 2005;129:746-53 pubmed
    ..Three-dimensional echocardiography provides detailed information about the status of the left atrioventricular valve in the atrioventricular septal defect and can aid in the planning of either primary or secondary repair. ..
  45. Sakata Y, Koibuchi N, Xiang F, Youngblood J, Kamei C, Chin M. The spectrum of cardiovascular anomalies in CHF1/Hey2 deficient mice reveals roles in endocardial cushion, myocardial and vascular maturation. J Mol Cell Cardiol. 2006;40:267-73 pubmed
    ..Our results indicate that CHF1/Hey2 provides an important myocardial signal to the endocardial cushion for proper septation and valve formation and also plays an important role in maturation of the myocardium and vasculature. ..
  46. Jacobs J, Burke R, Quintessenza J, Mavroudis C. Congenital Heart Surgery Nomenclature and Database Project: atrioventricular canal defect. Ann Thorac Surg. 2000;69:S36-43 pubmed
    ..A minimum database set is also presented that will allow for data sharing and would lend itself to basic interpretation of trends. Outcome tables relating diagnoses, procedures, and various risk factors are presented. ..
  47. Chehab G, Chokor I, Fakhouri H, Hage G, Saliba Z, El Rassi I. [Congenital heart disease, maternal age and parental consanguinity in children with Down's syndrome]. J Med Liban. 2007;55:133-7 pubmed
    ..Maternal age above 32 years seem to be associated with a lesser occurrence of congenital cardiac anomaly in children with DS. ..
  48. Watanabe Y, Kokubo H, Miyagawa Tomita S, Endo M, Igarashi K, Aisaki K, et al. Activation of Notch1 signaling in cardiogenic mesoderm induces abnormal heart morphogenesis in mouse. Development. 2006;133:1625-34 pubmed
    ..Our present study thus indicates that the Notch1 signaling pathway plays a suppressive role both in AV myocardial differentiation and the maturation of the ventricular myocardium. ..
  49. Kim R. Invited commentary. Ann Thorac Surg. 2008;85:2099 pubmed publisher
  50. Kamesui T, Seki M, Tsubota M, Endo M, Watanabe S, Sato H. [A case of Ellis-van Creveld syndrome with partial atrioventricular septal defect and double orifice mitral valve]. Nihon Kyobu Geka Gakkai Zasshi. 1997;45:589-93 pubmed
    ..Her postoperative course was uneventful, and the patient was discharged on 25th postoperative day...
  51. Oshima Y, Yamaguchi M, Yoshimura N, Oka S, Ootaki Y. Anatomically corrective repair of complete atrioventricular septal defects and major cardiac anomalies. Ann Thorac Surg. 2001;72:424-9 pubmed
    ..The results of anatomically corrective surgery for AVSDs with major associated cardiac anomalies in the nonisomerism group were excellent. The optimal surgical options for isomerism heart, however, remain a controversial issue. ..
  52. Jiao K, Langworthy M, Batts L, Brown C, Moses H, Baldwin H. Tgfbeta signaling is required for atrioventricular cushion mesenchyme remodeling during in vivo cardiac development. Development. 2006;133:4585-93 pubmed
    ..Thus, our study provides a unique mouse genetic model for DILV, further characterization of which suggests a potential cellular mechanism for the defect. ..
  53. Chakraborty P, Bandyopadhyay D, Mandal S, Subhasis R. A rare variant of Ellis van Creveld syndrome. Singapore Med J. 2007;48:684-6 pubmed
    ..Transthoracic echocardiography identified a thin undulating intra-atrial membrane on the left side along with an ostium-primum defect. In this patient, the diagnosis of a variant of Ellis van Creveld syndrome was made...