Genetics of congenital heart diseases;Génétique des cardiopathies congénitales chez l'homme

Archives de Pediatrie

Volumn 10, Issue 7, 2003, Pages 635-639

  Bonnet, D ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Genetic counseling; Heart defects, congenital; Heart defects, genetics

Indexed keywords

CONGENITAL HEART DISEASE; DISEASE CLASSIFICATION; GENE IDENTIFICATION; GENE ISOLATION; GENETIC COUNSELING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; PEDIATRICIAN; PEDIGREE; REVIEW;

EID: 0042734569     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0929-693X(03)00275-6     Document Type: Review

References (29)

1. Dees E, Baldwin HS. New frontiers in molecular pediatric cardiology. Curr Opin Pediatr 2002;14:627-33.
2. Prall OW, Elliott DA, Harvey RP. Developmental paradigms in heart disease: insights from tinman. Ann Med 2002;34:148-56.
3. Hoess K, Goldmuntz E, Pyeritz RE. Genetic counseling for congenital heart disease: new approaches for a new decade. Curr Cardiol Rep 2002;4:68-75.
4. Clark EB. Pathogenetic mechanisms of congenital cardiovascular malformations revisited. Semin Perinatol 1996;20:465-72.
5. Boudjemline Y, Fermont L, Le Bidois J, Lyonnet S, Sidi D, Bonnet D. Prevalence of 22q11 deletion in fetuses with conotruncal cardiac defects: a 6-years prospective study. J Pediatr 2001;138:520-4.
6. Phillips HM, Renforth GL, Spalluto C, Hearn T, Curtis AR, Craven L, et al. Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis. Genomics 2002;79:475-8.
7. Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 1998;281:108-11.
8. Ruiz-Perez VL, Tompson SW, Blair HJ, Espinoza-Valdez C, Lapunzina P, Silva EO, et al. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Am J Hum Genet 2003;72:728-32.
9. Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones MA, Steiner RD, et al. Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Am J Hum Genet 2003;72: 1047-52.
10. Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001;29: 465-8.
11. Goldmuntz E, Geiger E, Benson DW. NKX2.5 mutations in patients with tetralogy of Fallot. Circulation 2001;104:2565-8.
12. Eldadah ZA, Hamosh A, Biery NJ, Montgomery RA, Duke M, Elkins R, et al. Familial tetralogy of Fallot caused by mutation in the jagged1 gene. Hum Mol Genet 2001;10:163-9.
13. Chessa M, Butera G, Bonhoeffer P, Iserin L, Kachaner J, Lyonnet S, et al. Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia-ventricular septal defect. Heart 1998;79:186-90.
14. Marino B. Complete atrioventricular septal defect in patients with and without Down's syndrome. Ann Thorac Surg 1994;57:1687-8.
15. Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth A, Penman-Splitt M, et al. X-linked situs abnormalities result from mutations in ZIC3. Nat Genet 1997;17:305-8.
16. Kosaki K, Bassi MT, Kosaki R, Lewin M, Belmont J, Schauer G, et al. Characterization and mutation analysis of human Lefty A and Lefty B, homologues of murine genes implicated in left-right axis development. Am J Hum Genet 1999;64:712-21.
17. Bamford RN, Roessler E, Burdine RD, Saplakoglu U, dela Cruz J, Splitt M, et al. Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet 2000;26:365-9.
18. Nomura M, Li E. Smad2 role in mesoderm formation, left-right patterning and craniofacial development. Nature 1998;393:786-90.
19. Stalmans I, Lambrechts D, De Smet F, Jansen S, Wang J, Maity S, et al. VEGF: A modifier of the del22q11 (DiGeorge) syndrome? Nat Med 2003;9:173-82.
20. Meno C, Shimono A, Saijoh Y, Yashiro K, Mochida K, Ohishi S, et al. Lefty-1 is required for left-right determination as a regulator of lefty-2 and nodal. Cell 1998;94:287-97.
21. Seo JW, Brown NA, Ho SY, Anderson RH. Abnormal laterality and congenital cardiac anomalies. Relations of visceral and cardiac morphologies in the iv/iv mouse. Circulation 1992;86:642-50.
22. Sharma S, Devine W, Anderson RH, Zuberbuhler JR. Identification and analysis of left atrial isomerism. Am J Cardiol 1987;60:1157-60.
23. Anderson RH, Webb S, Brown NA. Defective lateralisation in children with congenitally malformed hearts. Cardiol Young 1998;8: 512-31.
24. Franco D, Kelly R, Lamers WH, Buckingham M, Moorman AF. Regionalized transcriptional domains of myosin light chain 3f transgenes in the embryonic mouse heart: morphogenetic implications. Dev Biol 1997;188:17-33.
25. Thomas T, Yamagishi H, Overbeek PA, Olson EN, Srivastava D. The bHLH factors, dHand and eHand, specify pulmonary and systemic cardiac ventricles independent of left-right sidedness. Dev Biol 1998; 196:228-36.
26. Harvey RP. Seeking a regulatory roadmap for heart morphogenesis. Semin Cell Dev Biol 1999;10:99-107.
27. Goldmuntz E, Bamford R, Karkera JD, dela Cruz J, Roessler E, Muenke M. CFCl mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am J Hum Genet 2002;70: 776-80.
28. Burn J. Disturbance of morphological laterality in humans. Ciba Found Symp 1991;162:282-96.
29. Lougheed J, Sinclair BG, Fung Kee Fung K, Bigras JL, Ryan G, Smallhorn JF, et al. Acquired right ventricular outflow tract obstruction in the recipient twin in twin-twin transfusion syndrome. J Am Coll Cardiol 2001;38:1533-8.