Genetics and embryological mechanisms of congenital heart diseases

Archives of Cardiovascular Diseases

Volumn 102, Issue 1, 2009, Pages 59-63

  Bajolle, Fanny ^a   Zaffran, Stéphane ^b   Bonnet, Damien ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b AIX MARSEILLE UNIVERSITÉ   (France)

Author keywords

Cardiogenesis; Congenital heart diseases; Genetics

Indexed keywords

CONGENITAL HEART DISEASE; DEVELOPMENTAL GENETICS; DISEASE CLASSIFICATION; FAMILIAL DISEASE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HEART DEVELOPMENT; HEART HEMODYNAMICS; HUMAN; MOLECULAR GENETICS; MORPHOGENESIS; MUTATIONAL ANALYSIS; NONHUMAN; PATHOGENESIS; POPULATION GENETICS; REVIEW; TRANSGENIC ANIMAL;

EID: 63049126695     PISSN: 18752136     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.acvd.2008.06.020     Document Type: Review

References (21)

1. Meilhac SM, Esner M, Kelly RG, Nicolas JF, Buckingham ME. The clonal origin of myocardial cells in different regions of the embryonic mouse heart. Dev Cell 2004;6:685-98.
2. Cai CL, Liang X, Shi Y, Chu PH, et al. Isl1 identifies a cardiac progenitor population that proliferates prior to differentiation and contributes a majority of cells to the heart. Dev Cell 2003;5:877-89.
3. Zaffran S, Kelly RG, Meilhac SM, Buckingham ME, Brown NA. Right ventricutar myocardium derives from the anterior heart field. Circ Res 2004;95:261-8.
4. Buckingham M, Meilhac S, Zaffran S. Building the mammalian heart from two sources of myocardial cells. Nat Rev Genet 2005;6:826-35.
5. Christoffels VM, Habets PE, Franco D, et al. Chamber formation and morphogenesis in the developing mammalian heart. Dev Biol 2000;223:266-78.
6. Bajolle F, Zaffran S, Kelly RG, et al. Rotation of the myocardial wall of the outflow tract is implicated in the normal positioning of the great arteries. Circ Res 2006;98:421-8.
7. Nora JJ. Multifactorial inheritance hypothesis for the etiology of congenital heart diseases. The genetic-environmental interaction. Circulation 1968;38:604-17.
8. Kirby ML, Turnage KL, Hays BM. Characterization of conotruncal malformations following ablation of "cardiac" neural crest. Anat Rec 1985;213:87-93.
9. 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-year prospective study. J Pediatr 2001;138:520-4.
10. Heymann MA, Rudolph AM. Effects of congenital heart disease on fetal and neonatal circulations. Prog Cardiovasc Dis 1972;15:115-43.
11. Garg V, Muth AN, Ransom JF et al. Mutations in NOTCH1 cause aortic valve disease. Nature 2005;437:270-4.
12. Auman HJ, Coleman H, Riley HE, Olale F, Tsai HJ, Yelon D. Functional modulation of cardiac form through regionally confined cell shape changes. PLoS Biol 2007;5:604-15.
13. Clark EB. Pathogenetic mechanisms of congenital cardiovascular malformations revisited. Semin Perinatol 1996;20: 465-72.
14. Marino B, Vairo U, Corno A, et al. Atrioventricular canal in Down syndrome. Prevalence of associated cardiac malformations compared with patients without Down syndrome. Am J Dis Child 1990;144:1120-2.
15. Boudjemline Y, Fermont L, Le Bidois J, Villain E, Sidi D, Bonnet D. Can we predict 22q11 status of fetuses with tetralogy of Fallot? Prenat Diagn 2002;22:231-4.
16. Kamath BM, Spinner NB, Emerick KM, et al. Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation 2004;109:1354-8.
17. Goldmuntz E, Bamford R, Karkera JD, deia Cruz J, Roessler E, Muenke M. CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am J Hum Genet 2002;70:776-80.
18. Muncke N, Jung C, Rudiger H, et al. Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). Circulation 2003;108:2843-50.
19. Megarbane A, Salem N, Stephan E, et al. X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3. Eur J Hum Genet 2000;8:704-8.
20. Bajolle F, Bonnet D. Left heart defects and genetics. Arch Mal Coeur 2006;99:494-6.
21. Bajolle F, Zaffran S, Bonnet D. Molecular aspects of congenital heart diseases. Arch Mal Coeur 2007;100:484-9.