Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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

Referenzen:

1.

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

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2.

De Luca A et. al. (2011) New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.

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3.

Kodo K et. al. (2009) GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling.

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4.

Rein AJ et. al. (1990) Genetics of conotruncal malformations: review of the literature and report of a consanguineous kindred with various conotruncal malformations.

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5.

le Marec B et. al. (1989) [Truncus arteriosus: an autosomal recessive disease?].

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6.

Pierpont ME et. al. (1988) Cardiac malformations in relatives of children with truncus arteriosus or interruption of the aortic arch.

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7.

Matsuoka R et. al. (1994) Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.

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8.

Rein AJ et. al. (1994) Genetics of conotruncal malformations: further evidence of autosomal recessive inheritance.

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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.

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10.

Debrus S et. al. (1996) Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion.

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11.

Takahashi K et. al. (1995) Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: a prospective study.

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12.

Devriendt K et. al. (1996) The incidence of a deletion in chromosome 22Q11 in sporadic and familial conotruncal heart disease.

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13.

Matsuoka R et. al. (1998) Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome.

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14.

Saitta SC et. al. (1999) A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects.

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15.

Goldmuntz E et. al. (2002) CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.

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16.

Yagi H et. al. (2003) Role of TBX1 in human del22q11.2 syndrome.

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17.

Heathcote K et. al. (2005) Common arterial trunk associated with a homeodomain mutation of NKX2.6.

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18.

Karkera JD et. al. (2007) Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.

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19.

Obler D et. al. (2008) Double outlet right ventricle: aetiologies and associations.

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20.

Tan ZP et. al. (2012) Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle.

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21.

Ta-Shma A et. al. (2013) Isolated truncus arteriosus associated with a mutation in the plexin-D1 gene.

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22.

Ta-Shma A et. al. (2014) Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.

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