Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Congenital cadiac malformations

The group of congenital cadiac malformations includes inborn abnormalities of the heart.

Systematic

Hereditary cardiac disease
Arteriosclerosis
Congenital cadiac malformations
Atrial septal defect 7 with or without AV conduction defects
NKX2-5
Conotruncal heart malformations
NKX2-5
Hypoplastic left heart syndrome 2
NKX2-5
Tetralogy of Fallot
NKX2-5
Ventricular septal defect 3
NKX2-5
Hereditary arrhythmia
Hereditary cardiomyopathy

References:

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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Update: Sept. 26, 2018