Genetics of cardiovascular disease

Question 1

downs syndrome

Answer 1

trisomy 21
15% atrio ventricular septal defects
Risk increases with maternal age

Question 2

turners syndrome

Answer 2

45 chromosomes and one X
coarctation of aorta before aortic valve
short stature, puffy hands, neck webbing

Question 3

noonans syndrome

Answer 3

pulmonary stenosis which is autosomal dominant

Question 4

costello syndrome

Answer 4

cardiomyopathy

Question 5

22q11 deletion syndrome

Answer 5

cardiac malformation
abnormal facies
psychiatric problems

Question 6

Williams syndrome

Answer 6

aortic stenosis
hypercalcemia
talk a lot of nothing

Question 7

name a few cardiovascular connective tissue diseases

Answer 7

marfan, loeys-dietz, ehlers danlos

Question 8

describe marfan syndrome

Answer 8

autosomal dominant connective tissue disorder caused by fibrillin 1 gene

Question 9

how do you diagnose mafans syndrome

Answer 9

aortic dilation or dissection
ectopia lentís
systemic score>7
if they have fibrin 1 gene

Question 10

management of marfan

Answer 10

echocardiogram
beta blockets
angiotensin II receptor blockers
aortic surgery

Question 11

long QT syndrome

Answer 11

romano-ward syndrome
syncope, seizure and sudden death
brought on by emotion, exercise and drugs

Question 12

screening of inherited cardiac conduits

Answer 12

cardiac phenotype or genetic testing
family history
assess relatives