Pathology of the Heart II Flashcards
congenital heart disease
between 3 and 8 weeks gestational age
most common cause of congenital defect
trisomy 21
if have this -work up heart
most common congenital cardiac malformation
bicuspid aortic valve - 2% of population
second - ventricular septal defect
third - atrial septal defect
atrial septal defect
first diagnosed as adults
- no problems in childhood
- pulmonary HTN in adults shows symptoms
ventricular septal defect
picked up in kids
-can close on its own
neural crest cells
form aorta and first branches
boundary - coarctation of aorta occurs here
atrial septal defect genotype
NKX2-5
sinus venosus type
holt-oram syndrome
TBX5 mutation
- ASD, VSD, conduction defects
- also limb and hand problems
digeorge syndrome
deletion 22q11.2 **
TBX1
CATCH-22
cardiac outflow tract defects
marfan syndrome
mutation in fibrillin
congenital heart disease
-aortic aneurysm, valve abnormalities
CATCH-22
digeorge
cardiac abnormal facies thymic aplasia cleft palate hypocalcemia chromosome 22 deletion
cardiac defects from neural crest
5th brachial arch
3rd and 4th pharyngeal pouches
atresia
complete obstruction
left to right shunt
cause pulmonary volume overload
compensation - hypertrophy and vasc resistance
results in right to left shunt - eisenmenger syndrome
right to left shunt
hypoxia and tissue cyanosis
-bypass lungs
allow paradoxical emboli
finger and toe clubbing
- hypertrophic osteoarthropathy
- also polycytemia
causes of L > R shunts
ASD, VSD, PDA, AVSD
-baby pink usually
get pulmonary HTN - reversal (eisenmenger)
-reversal - needs transplant
eisenmenger
late cyanotic congenital heart disease
-with reversal of L > R shunt
VSD
ventricular septal defect
P hypertrophy RV
V hypertrophy LV
majority - membranous septum (upper)
minority - muscular septum (lower)
ASD
atrial septal defect
3 major types
- secundum (majority)
- primum
- sinus venosus
may be asymptomatic
-10% > pulmonary HTN
may have murmur
secundum ASD
majority
-involve fossa ovalis