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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Endocardial Cushion Defects

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Disease relevance of Endocardial Cushion Defects


High impact information on Endocardial Cushion Defects

  • There were no obvious differences between the goose-neck configuration of complete-type endocardial cushion defect and that of ostium primum atrial septal defect [6].
  • These patterns of Tbx5 expression provide an embryologic basis for the prevalence of atrial septal defects (ostium primum and secundum), ventricular muscular septal defects, and left-sided malformations (endocardial cushion defects, hypoplastic left heart, and aberrant trabeculation) observed in patients with Holt-Oram syndrome [7].
  • The patient with the most centromeric breakpoint, between D3S1585 and D3S1263, had the most severe clinical phenotype including an endocardial cushion defect that was not observed in any of the four patients who had more telomeric breakpoints [8].
  • A 74-year-old woman with a unilateral left superior vena cava required dual chamber permanent pacing after a radical cardiac operation for an incomplete from of endocardial cushion defect [9].

Anatomical context of Endocardial Cushion Defects


Gene context of Endocardial Cushion Defects


Analytical, diagnostic and therapeutic context of Endocardial Cushion Defects


  1. Ethnicity and socioeconomic status: impact on the diagnosis of congenital heart disease. Fixler, D.E., Pastor, P., Sigman, E., Eifler, C.W. J. Am. Coll. Cardiol. (1993) [Pubmed]
  2. Extracardiac abnormalities in infants with congenital heart disease. Greenwood, R.D., Rosenthal, A., Parisi, L., Fyler, D.C., Nadas, A.S. Pediatrics (1975) [Pubmed]
  3. Right atrial ultrastructure in congenital heart disease. I. Comparison of ventricular septal defect and endocardial cushion defect. Pham, T.D., Wit, A.L., Hordof, A.J., Malm, J.R., Fenoglio, J.J. Am. J. Cardiol. (1978) [Pubmed]
  4. Sodium valproate-induced cardiovascular abnormalities in the Jcl:ICR mouse fetus: peak sensitivity of gestational day and dose-dependent effect. Sonoda, T., Ohdo, S., Ohba, K., Okishima, T., Hayakawa, K. Teratology (1993) [Pubmed]
  5. Acyanotic lesions with increased pulmonary blood flow. Wood, M.K. Neonatal network : NN. (1997) [Pubmed]
  6. Subxiphoid cross-sectional echocardiographic imaging of the "goose-neck" deformity in endocardial cushion defect. Yoshida, H., Funabashi, T., Nakaya, S., Maeda, T., Taniguchi, N. Circulation (1980) [Pubmed]
  7. Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndrome. Bruneau, B.G., Logan, M., Davis, N., Levi, T., Tabin, C.J., Seidman, J.G., Seidman, C.E. Dev. Biol. (1999) [Pubmed]
  8. Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome. Drumheller, T., McGillivray, B.C., Behrner, D., MacLeod, P., McFadden, D.E., Roberson, J., Venditti, C., Chorney, K., Chorney, M., Smith, D.I. J. Med. Genet. (1996) [Pubmed]
  9. Transvenous dual chamber pacing via a unilateral left superior vena cava. Ashida, Y., Mori, T., Kuroda, H., Ishiguro, S., Hara, Y., Tonomoto, N. Pacing and clinical electrophysiology : PACE. (1998) [Pubmed]
  10. Atrioventricular canal ventricular septal defect with cleft mitral valve. Angiographic and echocardiographic features. LaCorte, M.A., Cooper, R.S., Kauffman, S.L., Schiller, M.S., Golinko, R.J., Griepp, R.B. Pediatric cardiology. (1982) [Pubmed]
  11. Atrioventricular valve abnormalities in infancy: two-dimensional echocardiographic and angiocardiographic comparison. Gutgesell, H.P., Cheatham, J., Latson, L.A., Nihill, M.R., Mullins, C.E. J. Am. Coll. Cardiol. (1983) [Pubmed]
  12. Diagnosis of endocardial cushion defect with cross-sectional and M-mode scanning echocardiography. Differentiation from secundum atrial septal defect. Beppu, S., Nimura, Y., Nagata, S., Tamai, M., Matsuo, H. British heart journal. (1976) [Pubmed]
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