Tetralogy of Fallot (TOF)
Epidemiology and Etiology:
- Results from embryological
anterosuperior displacement of the infundibular septum
Common sites:
Gross features:
- Tetralogy:
- VSD
- large –
diameter of aortic orifice
- aortic valve is
the superior border of the VSD
- Obstruction of
the right ventricular outflow tract (subpulmonary
stenosis)
- Overriding aorta
(overrides the VSD)
- Right ventricular
hypertrophy
- Enlarged, “boot-shaped”
heart
- Marked right
ventricular hypertrophy
- Right aortic arch
(25%)
Histologic features:
Immunophenotype:
Marker:
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Sensitivity:
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Specificity:
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Molecular features:
Other features:
- untreated:
- 10% survival at
20y
- 3% survival at
40y
References: