congenital heart diseases Flashcards
down syndrome
trisomy 21 non-disjunction and mostly maternal inheritance due to age
cystic hygroma
abnormal chromosomes
turner`s syndrome characteristics
coarctation of the aorta , short stature , gonadal dysgenesis , puffy hands
what is noonan syndrome characterised with ?
pulmonary stenosis
short stature
neck webbing
cryptorchidism
characteristic face
what heart disease is associated with costello syndrome
cardiomyopathy
22q11 deletion syndrome
digeorge syndrome
shprintzen syndrome
familial cardiomyopathy
HCOM -hypertrophic cardiomyopathy
dilated cardiomyopathy
familial arrythmias
long QT
brugada
CPVT
ARVC
genetic connective tissue disease that affect the cardiovascular system
marfans syndrome
FTAA
ehlers danlos
loeys-dietz
what systems of the body are affected marfan`s syndrome
it is an autosomal dominant disease
multisystem disease
affects the connective tissue
diagnosis of marfan`s syndrome
tall stature / pectus carinatum / aortic root at upper limit of normal at certain age in life.
prophyllactic treatment?
diagnosis of marfan`s syndrome
aortic dilatation / dissection
ectopia lentis
family history
systemic score of above or equal to 7
management of marfan`s syndrome
echocardiogram
beta blockers
arb
aortic surgery
aortic root surgery
to treat marfans syndrome
what is long qt syndrome characterised by
romano ward syndrome;
syncope
emotion , exercise and drugs
ECG shows prolonged qtc
