Tetralogy of Fallot
Synonyms :
- TDF
Description
Tetralogy of Fallot is secondary to an anterior deviation of the upper part of the interventricular septum (septum conal).
This deviation is responsible for interventricular communication, aortic overlap on the interventricular septum (dextroposition of the aorta or riding aorta), and sub-pulmonary obstruction (pulmonary stenosis). Besides that, there is a right ventricular hypertrophy.
Incidence
1/2500 - 1/4000
and it represents 10% of congenital heart disease
Codification :
OMIM : 187500 & 618780
CIM-10 : Q21.3
HPO : 0001636
A little story
Its name is associated with Etienne-Louis Arthur Fallot who described it in 1888.
The term "tetralogy of Fallot" has only been used since 1924.
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Ultrasound diagnosis
Ultrasound signs detectable in the 1st trimester
- four-chamber view :
cardiac axis deviation to the left
perimembranous ventricular septal defect - three vessels and trachea view :
discrepant size between the aorta and pulmonary artery with antegrade flow in both vessels on color Doppler - left ventricular outflow tract view :
overriding of the dilated aorta over the ventricular septal defect
ultrasound signs detectable in the 2nd & 3rd trimester
- four-chamber view :
interventricular communication
right ventricular hypertrophy (rarely present in the antenatal period) - left ventricular outflow tract view :
the ventricular septum with the anterior wall of the aorta is lost
aortic overlap on the interventricular septum
interventricular communication - right ventricular outflow tract view :
pulmonary stenosis
discrepant size between the aorta and pulmonary artery - three vessels and trachea view :
discrepant size between the aorta and pulmonary artery
Reversal of flow in arterial duct if pulmonary severe obstruction
Differential Diagnosis
The other conotruncal anomalies that share the same ultrasound call sign of the "aortic overlap on interventricular communication" are :
- isolated sub-aortic interventricular communication where the pulmonary pathway is of normal caliber
- pulmonary atresia with open septum (PAOS) where, on the contrary, the pulmonary ring is atretic, impermeable, and the pulmonary trunk so hypoplastic that it is usually not visible on ultrasound. Of the pulmonary route, only the bifurcation and the pulmonary arteries remain, supplied against the current by the arterial duct.
- the common arterial trunk malformation where, a single artery (the "common trunk") gives rise to both the aorta and the pulmonary arteries.
and also : - transposition of the great arteries
Associated anomalies
Nuchal translucency with normal karyotype
Right aortic arch
Association with extracardiac anomalies is frequent : in particular gastrointestinal and thoracic ones (esophageal and duodenal atresia, and diaphragmatic hernia), even independently of chromosomal anomalies.
Thymic hypoplasia, polyhydramnios.
Risk of chromosomal anomalies
High : 20%
Trisomy 13, 18, 21
Trisomy 8p
del 22q11.2 (Di George syndrome)
Risk of nonchromosomal syndromes
Relatively high
CHARGE syndrome, VACTERL, Fetal alcohol syndrome, Goldenhar syndrome, 4p syndrome, Cornelia Delange syndrome, TAR syndrome, Nager syndrome, Alagille syndrome, Noonan syndrome, Kabuki syndrome, Melnick-Needles syndrome, Townes-Brocks syndrome, 3C syndrome, Coffin-Siris syndrome, WAGR syndrome, , Holt-Oram Syndrome, Yunis-Varon syndrome, Steinfeld syndrome, McKusick Kaufman syndrome
Etiologies - others
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Some key figures
Recognisable syndromes
Recognisable signs
Prenatal diagnosis practitioners have already adopted it
References
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- Hoffman JI, Christianson R. Congenital heart disease in a cohort of 19,502 births with long-term follow-up. Am J Cardiol. 1978;42:641–647.
- Baker EJ. Tetralogy of Fallot with pulmonary atresia. In: Anderson RH, Macartney FJ, Shinebourne EA, et al. eds. Paediatric Cardiology. Edinburgh: Churchill Livingstone, 2001; 1251–79.
- Dupont C, Grati FR, Choy KW, et al. Prenatal diagnosis of 24 cases of microduplication 22q11.2 : an investigation of phenotype-genotype correlations. Prenat Diagn 2015 ; 35(1) : 35–43.
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