tetralogy of Fallot
MIM.187500 20p12, 8q23, 5q34
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.
Types
autosomal dominant Tetralogy of Fallot
autosomal recessive Tetralogy of Fallot (MIM.605618)
syndromal Tetralogy of Fallot
- 22q11.2-associated syndromes (TBX1)
- velocardiofacial syndrome (MIM.192430)
- DiGeorge syndrome (MIM.188400)
- 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)
Associations
Preauricular pits
fifth finger clinodactyly
broad forehead
prominent eyes
severe mental retardation and growth retardation (MIM.601127)
hypertelorism (MIM.239711)
glaucoma (MIM.187501)
Etiology
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)
Variants
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)