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tetralogy of Fallot

MIM.187500 20p12, 8q23, 5q34

Sunday 9 January 2005

Definition: Tetralogy of Fallot is the association of a pulmonary valve stenosis, a ventricular septal defect (VSD), an overriding aorta and a right ventricular hypertrophy.

Tetralogy of Fallot is the most common form of complex congenital heart disease, occurring in approximately 1 in 3000 live births. Sib recurrence risk is 1% for tetralogy.


- One Minute #CardioEd: Tetralogy of Fallot


- autosomal dominant Tetralogy of Fallot
- autosomal recessive Tetralogy of Fallot (MIM.605618)
- syndromal Tetralogy of Fallot

  • recombinant chromosome 8 syndrome (MIM.179613)
  • CHARGE syndrome (MIM.214800)
  • frontonasal syndrome (MIM.136760)
  • progeroid facial appearance with hand anomalies (MIM.602249)
  • association ectrodatcyly of lower limbs, cardiac malformations and micrognathia (ECMM association) (MIM.601348) (ECMM association)
  • association porencephaly, cerebellar hypoplasia and internal malformations (MIM.601322)


- preauricular pits
- fifth finger clinodactyly
- broad forehead
- prominent eyes
- severe mental retardation and growth retardation (MIM.601127)
- hypertelorism (MIM.239711)
- glaucoma (MIM.187501)


- Loci: 20p12, 8q23, 5q34

- germline mutations in

  • JAG1 coding the jagged1 protein in familial Tetralogy of Fallot (11152664)
  • NKX2E (CSX) at 5q34 (MIM.600584)
  • ZFPM2 at 8q23
  • GDF1 (MIM.602880)


- Tetralogy of Fallot with pulmonary atresia

Case records

- Case #10207 - Association tetralogy of Fallot (ToF), corpus callosum agenesis, cleft palate, vertebral malformations

- Case #10182 - Cantrell Pentalogy and tetralogy of Fallot (ToF)