Genetics and Cardiovascular Disease

Question 1

What syndromes that you know of are due to microdeletions

Answer 1

22q11 deletion syndrome

Williams syndrome

Question 2

what syndromes that you know of are due to single gene deletions

Answer 2

Noonan syndrome

Marfan syndrome

Question 3

Down syndrome is a trisomy, what chromosome does it effect

Answer 3

trisomy of chromosome 21

Question 4

what is the most common cause leading to trisomy in Down syndrome

Answer 4

maternal non-disjunction

Question 5

what is a common heart defect in people who have Down syndrome

Answer 5

atrio-ventricular septal defects

Question 6

duodenal atresia is a development defect commonly seen in what genetic condition

Answer 6

Down syndrome

Question 7

what is Turner syndrome

Answer 7

only effects females, where the female is partially or completely missing a X chromosome

Question 8

what is the cardiovascular defect that can happen in Turner syndrome

Answer 8

contraction of the aorta

Question 9

What may a female with Turner syndrome look like

Answer 9

short stature
neck webbing
puffy hands
early loss of ovarian function

Question 10

What may an individual with Noonan syndrome look like

Answer 10

neck webbing 
short stature 
wide forehead
droopy eyelids
absence of 1 testicle in males

Question 11

what is the cardiac defect that can be present in Noonan syndrome

Answer 11

pulmonary stenosis

Question 12

what does CATCH 22 stand for in relation to 22q11 deletion syndrome

Answer 12

C ardiac malformation
A bnormal facies
T hymic hypoplasia 
C left palate
H ypoparathyroidism
22 q11 deletion

Question 13

apart from the CATCH22 signs what other problems may a person with 22q11 deletion present with

Answer 13

renal problems

psychiatric

Question 14

what percent of 22q11 syndrome cases are familial

Answer 14

only 25%

Question 15

What is the typical features of a patient with Williams syndrome

Answer 15

characteristic face with low nasal bridge
cocktail party manner
5th finger clinodactyly
hypercalcemia

Question 16

what cardiovascular defects may a person with Williams syndrome present with

Answer 16

aortic stenosis (supravalvar)

Question 17

what is the genetic cause of Williams syndrome

Answer 17

deletion of elastin on chromosome 7

Question 18

what are known teratogens

Answer 18

alcohol
antiepileptic drugs
rubella
maternal diabetes mellitus

Question 19

what are 3 antiepiletic drugs that can cause Fetal Anticonvulsant Syndrome

Answer 19

valproate
phenytoin
carbamazepine

Question 20

what are the features a person with Fetal Antiepileptic Syndrome may have

Answer 20

characteristic face
malformation patterns
development delay

Question 21

what are 3 connective tissue diseases that commonly effect the heart

Answer 21

Marfan syndrome
Loeys-Dietz
Ehlers Danlos

Question 22

what is the chance that a patient with Marfans has inherited it

Answer 22

75%

Question 23

Marfans syndrome can be describe as Autosomal (what)

Answer 23

autosomal dominant

Question 24

the Ghent syndrome can be used to diagnose what condition

Answer 24

Marfans

Question 25

what does pectus mean

Answer 25

chest wall deformity- looks like the chest wall has sunken in

Question 26

hypermobile joint is a feature of what condition

Answer 26

Marfans

Question 27

In suspected Marfans syndrome what patients would get an ECG

Answer 27

every case- mandatory

Question 28

in suspected Marfans Syndrome when would you do an MRI and/or pelvic X-ray

Answer 28

where diagnosis would change if positive

Question 29

the Fibrillin 1 gene is mutated in Marfans syndrome, can this be detected in many patients

Answer 29

yes 70-90%

Question 30

How would you manage Marfans

Answer 30

annual clinical review
echo regularly 
B blockers
ARBs
aortic surgery if needed 
monitor aortic root in pregnancy