Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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.

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

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2.

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

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3.

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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4.

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

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5.

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

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6.

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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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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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18.

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

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19.

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

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20.

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

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21.

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

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22.

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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Update: 14. August 2020
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