Tetralogy of Fallot/ Transposition of great arteries Flashcards
Describe the ultrasound findings in a fetus with tetralogy of fallot.
Perimembranous VSD Overriding aorta Pulmonary stenosis or or atresia or absent pulmonary valve (RV hypertrophy is typically not seen inutero due to presence of ductus arteriosus)
Risk factors for tetralogy of fallot.
Diabetes Exposure to retinoic acid
How do you counsel your patient if tetralogy of fallot is suspected on ultrasound?
>90% survival if isolated. 32% mortality at 4 years if absent pulmonary valve is noted.
What genetic conditions are associated with tetralogy of fallot?
T13 T18 T21 - associated with ASVD + ToF 22q11 - associated with absent pulmonary valve (20% of cases in general, 75% if absent pulmonary valve) CHARGE syndrome - Coloboma, Heart defect, Atresia of the cloaca, Restriction of growth, GU abnormalities, Ear abnormality VACTRL- Vertebral, anorectal atresia, cardiac, trachea-esophageal fistula, renal abnormality, limb dysplasia Alagille syndrome - liver, heart and triangle face
What is the likelihood of associated anomalies if ToF is identified?
45%
What additional evaluation do you perform if tetralogy of Fallot is identified?
-Detailed anatomic survey -Serial growth ultrasound -Fetal echocardiogram (associated with right sided aortic arch in 25%, left SVC and tet-canal -AVSD) -Antenatal testing at 32 weeks -Pediatric CT surgery consultation if blue is suspected -Antenatal NICU consultation
Do you offer amniocentesis for fetuses with tetralogy of fallot?
Yes. The condition is associated with the following: T13 T18 T21 - associated with ASVD + ToF 22q11 - associated with absent pulmonary valve (20% of cases in general, 75% if absent pulmonary valve)
If you perform an amniocentesis for ToF what do you send the amniotic fluid for?
FISH reflect to karyotype and to CMA if karyotype is negative Alagille syndrome - Jag1, notch 2 genes affected
What is the likelihood of identifying a genetic condition or karyotype abnormality in a fetus with tetralogy of fallot?
Similar to associated anomalies - 45%
Overriding aorta in tetralogy of fallot:
Pulmonary stenosis in tetralogy of fallot:
Dimunitive pulmonary artery with foward flow on 3VTV in TOF
Criteria and findings for D- Transposition of Great Arteries
Left ventricular outflow tract divides as it arises from left ventricle in D-transposition of great vessels:
What do you expect to see in the 3VTV for fetus with D-transposition of great vessels:
2 vessels at 3-VT (Ao and superior vena cava); PA is not visible as it is posterior to the aorta
What do you expect to see with cross-over view of great vessel in fetus with D-transposition of great vessel
Parallel orientation of great arterires on oblique chest view
What are the different types of right sided aortic arch?
Right sided AA and DA
Right sided AA and Left DA
Double sided AA and Left DA
