Atriumseptumdefekt 7 mit AV-Leitungsstörung
Vorhofseptumdefekt 7 mit AV-Leitungsstörung ist ein seltener angeborerner Herzfehler, der autosomal dominant vererbt und durch Mutationen im NKX2-5-Gen ausgelöst wird.
Gliederung
Kongenitale Herzfehlbildungen
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Atriumseptumdefekt 7 mit AV-Leitungsstörung
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NKX2-5
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Fallot-Tetralogie
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Hypoplastisches Linksherzsyndrom 2
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Konotrunkaler Herzfehler
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Ventrikelseptumdefekt 3
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Referenzen:
| 1. |
Pease WE et. al. (1976) Familial atrial septal defect with prolonged atrioventricular conduction. [^] |
| 2. |
Schott JJ et. al. (1998) Congenital heart disease caused by mutations in the transcription factor NKX2-5. [^] |
| 3. |
Watanabe Y et. al. (2002) Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD. [^] |
| 4. |
McElhinney DB et. al. (2003) NKX2.5 mutations in patients with congenital heart disease. [^] |
| 5. |
Hirayama-Yamada K et. al. (2005) Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. [^] |
| 6. |
Gutierrez-Roelens I et. al. (2006) A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype? [^] |
| 7. |
Bosi G et. al. (1992) Familial atrial septal defect with prolonged atrioventricular conduction. [^] |
| 8. |
Bizarro RO et. al. (1970) Familial atrial septal defect with prolonged atrioventricular conduction. A syndrome showing the autosomal dominant pattern of inheritance. [^] |
| 9. |
Amarasingham R et. al. (1967) Congenital heart disease with arrhythmia in a family. [^] |
| 10. |
Basson CT et. al. (1995) Genetic heterogeneity of heart-hand syndromes. [^] |
| 11. |
WEIL MH et. al. (1961) A report of congenital heart disease in five members of one family. [^] |
