Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kongenitale Herzfehlbildungen

In der Erkrankungsgruppe kongenitale Herzfehlbildungen werden angeborene Herzfehler zusammengefasst.

Gliederung

Erbliche Herzerkrankungen
Arteriosklerose
Hereditäre Arrhythmie
Hereditäre Kardiomyopathie
Kongenitale Herzfehlbildungen
Atriumseptumdefekt 7 mit AV-Leitungsstörung
NKX2-5
Fallot-Tetralogie
NKX2-5
Hypoplastisches Linksherzsyndrom 2
NKX2-5
Konotrunkaler Herzfehler
NKX2-5
Ventrikelseptumdefekt 3
NKX2-5

Referenzen:

1.

Benson DW et. al. (1999) Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.

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2.

Goldmuntz E et. al. (2001) NKX2.5 mutations in patients with tetralogy of fallot.

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3.

Rauch R et. al. (2010) Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

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4.

Chen Y et. al. (2010) A novel mutation of GATA4 in a familial atrial septal defect.

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5.

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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6.

Peng T et. al. (2010) Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.

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7.

Wang J et. al. (2011) A novel NKX2-5 mutation in familial ventricular septal defect.

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8.

Maitra M et. al. (2010) Identification of GATA6 sequence variants in patients with congenital heart defects.

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9.

Lin X et. al. (2010) A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.

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10.

Wang J et. al. (2011) A novel GATA4 mutation responsible for congenital ventricular septal defects.

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11.

Boon AR et. al. (1972) A family study of Fallot's tetralogy.

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12.

Hirt-Armon K et. al. (1996) Type III tracheal agenesis with familial tetralogy of Fallot and absent pulmonary valve syndrome.

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13.

Digilio MC et. al. (1997) Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion.

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14.

Johnson MC et. al. (1997) Chromosome abnormalities in congenital heart disease.

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15.

Eldadah ZA et. al. (2001) Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.

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16.

None (1962) A family study of Fallot's tetrad.

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17.

Pizzuti A et. al. (2003) Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.

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18.

Lambrechts D et. al. (2005) Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study.

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19.

Tomita-Mitchell A et. al. (2007) GATA4 sequence variants in patients with congenital heart disease.

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20.

Zhang W et. al. () GATA4 mutations in 486 Chinese patients with congenital heart disease.

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21.

Greenway SC et. al. (2009) De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.

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22.

Soemedi R et. al. (2012) Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.

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