Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Tetralogy of Fallot

Tetralogy of Fallot is a complex congenital cardiac malformation that includes of a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy. Inheritance is autosomal dominant and mutations various genes can be involved.

Systematic

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

References:

1.

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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2.

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

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3.

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

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4.

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

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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.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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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16.

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

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17.

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

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18.

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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19.

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

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20.

Pacileo G et al. (1992) Tetralogy of Fallot in three siblings: a familial study and review of the literature.

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21.

Pankau R et al. (1990) Tetralogy of Fallot in three sibs.

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22.

Jones MC et al. (1985) An autosomal dominant syndrome of characteristic facial appearance, preauricular pits, fifth finger clinodactyly, and tetralogy of Fallot.

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23.

None (1974) Tetralogy of Fallot with right aortic arch in three successive generations.

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24.

OMIM.ORG article

Omim 187500 [^]
25.

Orphanet article

Orphanet ID 3303 [^]
26.

Wikipedia article

Wikipedia EN (Tetralogy_of_Fallot) [^]
Update: April 29, 2019