CVS and genetic diseases

Question 1

what does down syndrome cause

Answer 1

15% - atrioventricular septal defects

Question 2

chromosomal abnormalities are more common in what foetuses

Answer 2

ones with cardiovascular heart disease

Question 3

what is the down syndrome mutation

Answer 3

trisomy 21`

Question 4

what is caused by turner syndrome

Answer 4

coarctation of the aorta
short stature
neck webbing

gonadal dysgenesis
puffy hands

Question 5

what can neck webbing be a sing of

Answer 5

turner syndrome

Noonan syndrome

Question 6

what does noonan syndrome causer

Answer 6

pulmonary stenosis
short stature
neck webbing

Question 7

what does 22q11 deletion syndrome cause

Answer 7

CATCH 22

Cardiac malformation 
Abnormal facies 
Thymic hypoplasia
Cleft palate 
hypothyroidism 

psychiatric problems

Question 8

what does Williams syndrome cause

Answer 8

aortic stenosis

hypercalcemia

cocktail party manner (smile and wave - doesn’t listen)

Question 9

what is Marfan syndrome

Answer 9

autosomal dominant
multisystem
connective tissue

Question 10

what symptoms (especially cardiac does marfans show)

Answer 10

aortic dilation/dissection

pectus carinatum - Pidgeon chest

Question 11

what is the management of marfans

Answer 11

echocardiogram
beta blockers
ACE inhibitors

prophylactic surgery

Question 12

what causes sudden expected death

Answer 12

assumed to be arrhythmic

sometimes undiagnosed long QT syndrome (in relatives)

Question 13

what should be done after a diagnosis of inherited cardiac conditions

Answer 13

family history

asses relatives

cascade screening of relatives