Congenital heart disease

Question 1

causes of congenital heart disease

Answer 1

extra or missing whole chromosome or part of chromosome, mendelian disorders, teratogens, CHARGE associations, VACTERL associations, multifactorial

Question 2

down syndrome is

Answer 2

trisomy 21

Question 3

15% of babies with Down syndrome have and some have

Answer 3

atrioventricular septal defects and duodenal atresia

Question 4

techniques for finding congenital heart defects

Answer 4

ultrasound scan

Question 5

Turner syndrome is

Answer 5

45 chromsomes and only one x

Question 6

people with Turner syndrome can get

Answer 6

coarctation of aorta, short stature, gonadal dysgenesis, puffy hands

Question 7

Noonan sydrome

Answer 7

pulmonary stenosis, short stature, neck webbing, cryptorchidism, PTPN11 gene

Question 8

22q11 deletion syndrome acronym

Answer 8

CATCH 22-
cardiac malformation, abnormal facies, thyme hypoplasia, Cleft palate, hypoparathyroidism, 22q11 deletion. also speech delay, very variable disorder, if 2 or more features then test, can have psychiatric problems eg schizophrenia

Question 9

22q11 syndrome encompasses both what syndromes

Answer 9

DiGeorge and Velocardiofacial (shprintzen)

Question 10

williams syndrome can cause

Answer 10

aortic stenosis (supravalvar), hypercalcemia, 5tn finger clinodactylyl, characteristic face, cocktail party manner

Question 11

williams syndrome caused by

Answer 11

deletion of elastin on chromosome 7, deletion of continuous genes, LIM kinase

Question 12

foetal alcohol syndrome

Answer 12

face, ADHD, head less than 10th centile, IUGR less than 10th centile, caused by anti epileptic drugs, rubella, maternal diabetes mellitus

Question 13

what can you take to reduce chance of congenital heart disease

Answer 13

folic acid