Konotrunkaler Herzfehler
Die konotrunkalen Herzfehler betreffen den Ausflusstrakt des Herzens und umfassen Fallotsche Tetralogie, Truncus arteriosus communis, Pulmonalis-Atresie, rechter oder linker Doppelausstromventrikel und Transposition der großen Arterien. Sie machen etwa 30% aller angeborenen nicht-syndromalen Herzfehler aus.Es kommen verschiedene Vererbungsmuster vor und verschiedene Gene können betroffen sein.
Gliederung
Kongenitale Herzfehlbildungen
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Atriumseptumdefekt 7 mit AV-Leitungsstörung
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Fallot-Tetralogie
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Hypoplastisches Linksherzsyndrom 2
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Konotrunkaler Herzfehler
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NKX2-5
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Ventrikelseptumdefekt 3
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Referenzen:
| 1. |
McElhinney DB et. al. (2003) NKX2.5 mutations in patients with congenital heart disease. [^] |
| 2. |
De Luca A et. al. (2011) New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. [^] |
| 3. |
Kodo K et. al. (2009) GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. [^] |
| 4. |
Rein AJ et. al. (1990) Genetics of conotruncal malformations: review of the literature and report of a consanguineous kindred with various conotruncal malformations. [^] |
| 5. |
le Marec B et. al. (1989) [Truncus arteriosus: an autosomal recessive disease?]. [^] |
| 6. |
Pierpont ME et. al. (1988) Cardiac malformations in relatives of children with truncus arteriosus or interruption of the aortic arch. [^] |
| 7. |
Matsuoka R et. al. (1994) Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2. [^] |
| 8. |
Rein AJ et. al. (1994) Genetics of conotruncal malformations: further evidence of autosomal recessive inheritance. [^] |
| 9. |
Patterson DF et. al. (1993) A single major-gene defect underlying cardiac conotruncal malformations interferes with myocardial growth during embryonic development: studies in the CTD line of keeshond dogs. [^] |
| 10. |
Debrus S et. al. (1996) Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion. [^] |
| 11. |
Takahashi K et. al. (1995) Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: a prospective study. [^] |
| 12. |
Devriendt K et. al. (1996) The incidence of a deletion in chromosome 22Q11 in sporadic and familial conotruncal heart disease. [^] |
| 13. |
Matsuoka R et. al. (1998) Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. [^] |
| 14. |
Saitta SC et. al. (1999) A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects. [^] |
| 15. |
Goldmuntz E et. al. (2002) CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. [^] |
| 16. |
Yagi H et. al. (2003) Role of TBX1 in human del22q11.2 syndrome. [^] |
| 17. |
Heathcote K et. al. (2005) Common arterial trunk associated with a homeodomain mutation of NKX2.6. [^] |
| 18. |
Karkera JD et. al. (2007) Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. [^] |
| 19. |
Obler D et. al. (2008) Double outlet right ventricle: aetiologies and associations. [^] |
| 20. |
Tan ZP et. al. (2012) Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle. [^] |
| 21. |
Ta-Shma A et. al. (2013) Isolated truncus arteriosus associated with a mutation in the plexin-D1 gene. [^] |
| 22. |
Ta-Shma A et. al. (2014) Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation. [^] |
