Die Fallot-Tetralogie ist eine complexe kongenitale Fehlbildung des Herzens mit Ventrikelseptumdefet, Obstruktion des rechten Ausflusstraktes, reitende Aorta und Rechtsherzhypertrophie.
Kongenitale Herzfehlbildungen | ||||
Atriumseptumdefekt 7 mit AV-Leitungsstörung | ||||
Fallot-Tetralogie | ||||
NKX2-5 | ||||
Hypoplastisches Linksherzsyndrom 2 | ||||
Konotrunkaler Herzfehler | ||||
Ventrikelseptumdefekt 3 | ||||
1. |
Benson DW et al. (1999) Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. |
2. |
None (1974) Tetralogy of Fallot with right aortic arch in three successive generations. |
3. |
Jones MC et al. (1985) An autosomal dominant syndrome of characteristic facial appearance, preauricular pits, fifth finger clinodactyly, and tetralogy of Fallot. |
4. |
Pankau R et al. (1990) Tetralogy of Fallot in three sibs. |
5. |
Pacileo G et al. (1992) Tetralogy of Fallot in three siblings: a familial study and review of the literature. |
6. |
Soemedi R et al. (2012) Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. |
7. |
Greenway SC et al. (2009) De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. |
8. |
Zhang W et al. () GATA4 mutations in 486 Chinese patients with congenital heart disease. |
9. |
Tomita-Mitchell A et al. (2007) GATA4 sequence variants in patients with congenital heart disease. |
10. |
Lambrechts D et al. (2005) Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study. |
11. |
Pizzuti A et al. (2003) Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. |
12. |
None (1962) A family study of Fallot's tetrad. |
13. |
Eldadah ZA et al. (2001) Familial Tetralogy of Fallot caused by mutation in the jagged1 gene. |
14. |
Johnson MC et al. (1997) Chromosome abnormalities in congenital heart disease. |
15. |
Digilio MC et al. (1997) Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion. |
16. |
Hirt-Armon K et al. (1996) Type III tracheal agenesis with familial tetralogy of Fallot and absent pulmonary valve syndrome. |
17. |
Boon AR et al. (1972) A family study of Fallot's tetralogy. |
18. |
Lin X et al. (2010) A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. |
19. |
Maitra M et al. (2010) Identification of GATA6 sequence variants in patients with congenital heart defects. |
20. |
De Luca A et al. (2011) New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. |
21. |
Rauch R et al. (2010) Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. |
22. |
Goldmuntz E et al. (2001) NKX2.5 mutations in patients with tetralogy of fallot. |
23. |
Peng T et al. (2010) Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. |
24. |
OMIM.ORG article Omim 187500 |
25. |
Orphanet article Orphanet ID 3303 |
26. |
Wikipedia Artikel Wikipedia DE (Fallot-Tetralogie) |