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

Tetralogy of Fallot

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Disease relevance of Tetralogy of Fallot


Psychiatry related information on Tetralogy of Fallot


High impact information on Tetralogy of Fallot


Chemical compound and disease context of Tetralogy of Fallot


Biological context of Tetralogy of Fallot


Anatomical context of Tetralogy of Fallot


Gene context of Tetralogy of Fallot

  • BACKGROUND: Mutations in NKX2-5 have been found in families showing secundum ASD and atrioventricular (AV) conduction block and in some individuals with tetralogy of Fallot [25].
  • Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot [26].
  • The dual midline fusion defects of tetralogy of Fallot and MA suggests that either this patient has a unique syndrome with a distinct genetic etiology or that she has a genetically heterogeneous or variant form of MKS [27].
  • ICAM-1 was significantly present on 81% (P < 0.01) of myocardial tissue samples in the 5 patients with healing-stage acute myocarditis, and on 45% (P < 0.05) in the remaining 6 patients with non-specific cardiomyopathy, compared with 24% in control specimens obtained from right ventricular muscle resected at surgery for tetralogy of Fallot [28].
  • We screened the TBX1 gene in 41 patients affected by nonsyndromic CTDs of the DGS/VCFS subtype, principally "atypical" tetralogy of Fallot [29].

Analytical, diagnostic and therapeutic context of Tetralogy of Fallot


  1. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. Benson, D.W., Silberbach, G.M., Kavanaugh-McHugh, A., Cottrill, C., Zhang, Y., Riggs, S., Smalls, O., Johnson, M.C., Watson, M.S., Seidman, J.G., Seidman, C.E., Plowden, J., Kugler, J.D. J. Clin. Invest. (1999) [Pubmed]
  2. Echo-phonocardiographic and contrast studies in conditions associated with systemic arterial trunk overriding the ventricular septum: truncus arteriosus, tetralogy of Fallot, and pulmonary atresia with ventricular septal defect. Assad-Morell, J.L., Seward, J.B., Tajik, A.J., Hagler, D.J., Giuliani, E.R., Ritter, D.G. Circulation (1976) [Pubmed]
  3. Significance of cardiac defects in the developing fetus: a study of spontaneous abortuses. Ursell, P.C., Byrne, J.M., Strobino, B.A. Circulation (1985) [Pubmed]
  4. Tetralogy of fallot and other congenital heart defects in Hey2 mutant mice. Donovan, J., Kordylewska, A., Jan, Y.N., Utset, M.F. Curr. Biol. (2002) [Pubmed]
  5. Acute hemodynamic effects of increasing hemoglobin concentration in children with a right to left ventricular shunt and relative anemia. Beekman, R.H., Tuuri, D.T. J. Am. Coll. Cardiol. (1985) [Pubmed]
  6. Incidence of fetal alcohol syndrome and economic impact of FAS-related anomalies. Abel, E.L., Sokol, R.J. Drug and alcohol dependence. (1987) [Pubmed]
  7. FOG-2, a cofactor for GATA transcription factors, is essential for heart morphogenesis and development of coronary vessels from epicardium. Tevosian, S.G., Deconinck, A.E., Tanaka, M., Schinke, M., Litovsky, S.H., Izumo, S., Fujiwara, Y., Orkin, S.H. Cell (2000) [Pubmed]
  8. Angiotensin I and II exert inotropic effects in atrial but not in ventricular human myocardium. An in vitro study under physiological experimental conditions. Holubarsch, C., Hasenfuss, G., Schmidt-Schweda, S., Knorr, A., Pieske, B., Ruf, T., Fasol, R., Just, H. Circulation (1993) [Pubmed]
  9. Corrective surgery for tetralogy of Fallot without or with minimal right ventriculotomy and with repair of the pulmonary valve. Kawashima, Y., Kitamura, S., Nakano, S., Yagihara, T. Circulation (1981) [Pubmed]
  10. Continuous intravenous phenylephrine infusion for treatment of hypoxemic spells in tetralogy of Fallot. Shaddy, R.E., Viney, J., Judd, V.E., McGough, E.C. J. Pediatr. (1989) [Pubmed]
  11. Long-term administration of prostaglandin E1: report of two cases with tetralogy of Fallot and esophageal atresia. Abe, K., Shimada, Y., Takezawa, J., Oka, N., Yoshiya, I. Crit. Care Med. (1982) [Pubmed]
  12. Propranolol: the preferred palliation for tetralogy of Fallot. Garson, A., Gillette, P.C., McNamara, D.G. Am. J. Cardiol. (1981) [Pubmed]
  13. Hemodynamic effect of isoprenaline and dobutamine immediately after correction of tetralogy of Fallot. Relative importance of inotropic and chronotropic action in supporting cardiac output. Jaccard, C., Berner, M., Rouge, J.C., Oberhänsli, I., Friedli, B. J. Thorac. Cardiovasc. Surg. (1984) [Pubmed]
  14. Cor triatriatum: masked by complex congenital cardiac anomalies. Nudel, D.B., Kelley, M.J., Hellenbrand, W.E., Barash, P., Stansel, H.C., Berman, M.A. J. Thorac. Cardiovasc. Surg. (1976) [Pubmed]
  15. Systemic ventricular function in patients with tetralogy of fallot, ventricular septal defect and transposition of the great arteries repaired during infancy. Borow, K.M., Keane, J.F., Castaneda, A.R., Freed, M.D. Circulation (1981) [Pubmed]
  16. Prevalence of congenital cardiac anomalies at high altitude. Miao, C.Y., Zuberbuhler, J.S., Zuberbuhler, J.R. J. Am. Coll. Cardiol. (1988) [Pubmed]
  17. Effects of acutely increasing systemic vascular resistance on oxygen tension in tetralogy of Fallot. Nudel, D.B., Berman, M.A., Talner, N.S. Pediatrics (1976) [Pubmed]
  18. Oxygen uptake transient kinetics during constant-load exercise in children after operations of ventricular septal defect, tetralogy of Fallot, transposition of the great arteries, or tricuspid valve atresia. Gildein, P., Mocellin, R., Kaufmehl, K. Am. J. Cardiol. (1994) [Pubmed]
  19. Exercise Doppler echocardiography identifies abnormal hemodynamics in adults with congenital heart disease. Kaplan, J.D., Foster, E., Redberg, R.F., Schiller, N.B. Am. Heart J. (1994) [Pubmed]
  20. Right ventricular outflow tract assessment by cross-sectional echocardiography in tetralogy of Fallot. Caldwell, R.L., Weyman, A.E., Hurwitz, R.A., Girod, D.A., Feigenbaum, H. Circulation (1979) [Pubmed]
  21. Biventricular repair of conotruncal anomalies associated with aortic arch obstruction: 103 patients. Lacour-Gayet, F., Serraf, A., Galletti, L., Bruniaux, J., Belli, E., Piot, D., Touchot, A., Petit, J., Houyel, L., Planché, C. Circulation (1997) [Pubmed]
  22. Diagnosis of trifasicular damage following tetralogy of fallot and ventricular septal defect repair. Yabek, S.M., Jarmakani, J.M., Roberts, N.K. Circulation (1977) [Pubmed]
  23. Plasma atrial natriuretic peptide in patients with congenital heart diseases. Matsuoka, S., Kurahashi, Y., Miki, Y., Miyao, M., Yamazaki, Y., Nishiuchi, T., Saito, S. Pediatrics (1988) [Pubmed]
  24. Velo-cardio-facial syndrome associated with ventricular septal defect, pulmonary atresia, and hypoplastic pulmonary arteries. Jedele, K.B., Michels, V.V., Puga, F.J., Feldt, R.H. Pediatrics (1992) [Pubmed]
  25. Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome. Elliott, D.A., Kirk, E.P., Yeoh, T., Chandar, S., McKenzie, F., Taylor, P., Grossfeld, P., Fatkin, D., Jones, O., Hayes, P., Feneley, M., Harvey, R.P. J. Am. Coll. Cardiol. (2003) [Pubmed]
  26. Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. Pizzuti, A., Sarkozy, A., Newton, A.L., Conti, E., Flex, E., Digilio, M.C., Amati, F., Gianni, D., Tandoi, C., Marino, B., Crossley, M., Dallapiccola, B. Hum. Mutat. (2003) [Pubmed]
  27. A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome? Slavotinek, A.M., Dutra, A., Kpodzo, D., Pak, E., Nakane, T., Turner, J., Whiteford, M., Biesecker, L.G., Stratton, P. Am. J. Med. Genet. A (2004) [Pubmed]
  28. Late persistent expressions of ICAM-1 and VCAM-1 on myocardial tissue in children with lymphocytic myocarditis. Ino, T., Kishiro, M., Okubo, M., Akimoto, K., Nishimoto, K., Yabuta, K., Okada, R. Cardiovasc. Res. (1997) [Pubmed]
  29. DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene. Conti, E., Grifone, N., Sarkozy, A., Tandoi, C., Marino, B., Digilio, M.C., Mingarelli, R., Pizzuti, A., Dallapiccola, B. Eur. J. Hum. Genet. (2003) [Pubmed]
  30. Assessment of right ventricular overload by a thallium-201 SPECT study in children with congenital heart disease. Nakajima, K., Taki, J., Ohno, T., Taniguchi, M., Taniguchi, M., Bunko, H., Hisada, K. J. Nucl. Med. (1991) [Pubmed]
  31. C. Walton Lillehei and total correction of tetralogy of Fallot. Gott, V.L. Ann. Thorac. Surg. (1990) [Pubmed]
  32. The first open-heart repairs of ventricular septal defect, atrioventricular communis, and tetralogy of Fallot using extracorporeal circulation by cross-circulation: a 30-year follow-up. Lillehei, C.W., Varco, R.L., Cohen, M., Warden, H.E., Patton, C., Moller, J.H. Ann. Thorac. Surg. (1986) [Pubmed]
  33. Phenylephrine increases pulmonary blood flow in children with tetralogy of Fallot. Tanaka, K., Kitahata, H., Kawahito, S., Nozaki, J., Tomiyama, Y., Oshita, S. Canadian journal of anaesthesia = Journal canadien d'anesthésie. (2003) [Pubmed]
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