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Tetralogy of Fallot

Definition

Congenital heart disease with four components

  • Right ventricular outflow tract obstruction
  • Ventricular septal defect
  • Overriding aorta
  • Right ventricular hypertrophy
Incidence 0.2-0.5/1000 livebirths (5-10% of congenital heart disease)
Diagnosis Ultrasound
Gestation at diagnosis 18-22 weeks
Known chromosomal or genetic association Yes, Trisomy 21, 18, 13, 22q11 deletion syndromes (10% of cases)
Further investigations Karyotype and Fetal Echocardiogram
Differential Diaganosis

VSD

Double outlet right ventricle

Pulmonary atresia with VSD

Prognosis If isolated good >95%
Recurrance risk 2.5%
Research Studies None

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