Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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
Atriumseptumdefekt 7 mit AV-Leitungsstörung
NKX2-5
Fallot-Tetralogie
Hypoplastisches Linksherzsyndrom 2
Konotrunkaler Herzfehler
Ventrikelseptumdefekt 3

Referenzen:

1.

Pease WE et. al. (1976) Familial atrial septal defect with prolonged atrioventricular conduction.

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2.

Schott JJ et. al. (1998) Congenital heart disease caused by mutations in the transcription factor NKX2-5.

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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.

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4.

McElhinney DB et. al. (2003) NKX2.5 mutations in patients with congenital heart disease.

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5.

Hirayama-Yamada K et. al. (2005) Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.

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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?

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7.

Bosi G et. al. (1992) Familial atrial septal defect with prolonged atrioventricular conduction.

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8.

Bizarro RO et. al. (1970) Familial atrial septal defect with prolonged atrioventricular conduction. A syndrome showing the autosomal dominant pattern of inheritance.

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9.

Amarasingham R et. al. (1967) Congenital heart disease with arrhythmia in a family.

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10.

Basson CT et. al. (1995) Genetic heterogeneity of heart-hand syndromes.

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11.

WEIL MH et. al. (1961) A report of congenital heart disease in five members of one family.

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