congenital heart disease

Question 1

What is nuchal translucency and what is its association with down syndrome

Answer 1

• Nuchal translucency is the fluid around the neck of the baby in the womb - the larger the amount of fluid, the greater the risk of down syndrome

Question 2

What mutation causes turner syndrome

Answer 2

45,X

Question 3

What congenital malformations are associated with turner syndrome

Answer 3

• Coarctation of the aorta
• short stature
• gonadal dysgenesis

Question 4

What is neck webbing associated with

Answer 4

Noonans syndrome

Question 5

What issues are associated with 22q11 deletion syndrome

Answer 5

CATCH22
C- Cardiac malformation
A- Abnormal facies
T- Thymic hypoplasia
C- Cleft palat
H- Hypoparathyroidism

Question 6

Describe Marfan syndrome

Answer 6

• Autosomal dominant - mutation to fibrillin 1 gene and chromosome 15q21

Question 7

What is the presentation of marfans

Answer 7

• Tall stature
• Long limbs and digits
• Pectus carinatum (pigeoun chest)
• Lens subluxation
• Greater risk of aortic dissection