77 Congenital Cardiac Disease in the Setting of Genetic Syndromes
References
Nội dung
pathogenetic considerations Wyse RKH, Al-Mahdawi S, Burn J, et al Congenital heart disease in CHARGE association Pediatr Cardiol 1993;14:75–81 Review of congenital heart defects in CHARGE syndrome Digilio MC, Calzolari F, Capolino R, et al Congenital heart defects in patients with oculoauriculo-vertebral spectrum (Goldenhar syndrome) Am J Med Genet 2008;146A:1815– 1819 Review of congenital heart defects in Goldenhar syndrome Digilio MC, Marino B, Giannotti A, Dallapiccola B, Opitz JM Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxy Birth Defects Res A Clin Mol Teratol 2003;67:149–153 Review on pathogenetic considerations regarding the relationship between ciliopathies and Sonic Hedgehog pathway References Ferencz C, Rubin JD, Loffredo CA Epidemiology of Congenital Heart Disease The Baltimore-Washington Infant Study 1981-1989 Futura Publishing Company Inc: Mount Kisco, New York; 1993 Miller A, Riehle-Colarusso T, Alverson CJ, Frias JL, Correa A Congenital heart defects and major noncardiac anomalies, Atlanta, Georgia, 1968 to 2005 J Pediatr 2011;159:70–78 Wimalasundera RC, Gardiner HM Congenital heart disease and aneuploidy Prenat Diagn 2004;24:1116–1122 de la Cruz MV, Sanchez-Gomez C, Arteaga MM, Arguello C Experimental study of the development of the truncus and the conus in the chick embryo J Anat 1977;123:661–686 Marino BS, Lipkin PH, Newburger JW, et al Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American heart association Circulation 2012;126:1143–1172 Burnham N, Ittenbach RF, Stallings VA, et al Genetic factors are important determinants of impaired growth after infant cardiac surgery J Thorac Cardiovasc Surg 2010;140:144–149 Pradat P, Francannet C, Harris JA, et al The epidemiology of cardiovascular defects, Part I: a study based on data from three large registries of congenital malformations Pediatr Cardiol 2003;24:195–221 Robinson WM, Newburger JW Ethical issues concerning cardiac surgery in patients with syndromic abnormalities Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2003;6:147–151 Formigari R, Michielon G, Digilio MC, et al Genetic syndromes and congenital heart defects: how is surgical management affected? Eur J Cardiothorac Surg 2009;35:606–614 10 Marino B, Digilio MC Congenital heart disease and genetic syndromes: specific correlation between cardiac phenotype and genotype Cardiovasc Pathol 2000;9:303–315 11 Calcagni G, Unolt M, Digilio MC, et al Congenital heart disease and genetic syndromes: new insights into molecular mechanisms Expert Rev Mol Diagn 2017;17:861–870 12 Pueschel SM Clinical aspects of Down syndrome from infancy to adulthood Am J Med Genet Suppl 1990;7:52–56