Congenital Heart Disease

Question 1

What heart defect can Down’s syndrome cause?

Answer 1

Atrio-ventricular septal defect (occurs in 15% of cases)
Duodenal atresia

Question 2

What characteristics can come with Turner syndrome?

Answer 2

Coarctation of aorta
Short stature
Gonadal dysgenesis

Puffy hands

Turners syndrome is when a girl has only one X chromosome and 45 chromosomes

Question 3

What does neck webbing suggest?

Answer 3

Pre natal cardiac difficulty

Question 4

What can come with 22q11 deletion syndrome?

Answer 4

Cardiac malformation
Abnormal faciès
Thymie hypoplasia
Cleft palate
Hypoparathyroidism

Question 5

What syndromes does 22q11 deletion syndrome encompass?

Answer 5

DiGeorge and Shprintzen syndrome

Question 6

What characterises Williams syndrome?

Answer 6

Aortic stenosis

Hypercalcaemia
Characteristic face
Cocktail party manner

Question 7

What are some teratogens causing cardiac malformation?

Answer 7

Alcohol
Antiepileptic drugs
Rubella
Maternal diabetes mellites