congenital malformations-path
Terms
undefined, object
copy deck
- most common CHD
- VSD (42%)
- CHD occurs in ___ of live births
- 1%
- Transcription factor Gene mutation that causes ASD & VSD (Holt-Oram syndrome: arm & hand defects)
- TBX-5
- Transcription factor Gene mutation that causes Isolated ASD defect in humans (“tinman gene†[no heart] when homozygous in fruit fly)
- NKX2.5
- Chromosome deletions cause outflow defects (e.g., Di George syndrome)
- 22q11.2
- This grouping is described by primary left to right shunt. When pulmonary hypertension develops, the shunting of blood will reverse; i.e., a right to left shunt. Cyanosis will develop.
- Acyanotic group
- This grouping is described by permanent right to left shunt
- Cyanotic group
- Initial Left to Right Shunt (Acyanotic group) includes these 4 categories
-
Ventricular septal defect
Atrial septal defect
Patent ductus arteriosus
Atrioventricular septal defects - most common type of VSD is
- Membranous
- 90% of ASD’s are in the _______
- osteum secundum
- more than 1/3rd of those with complete atrioventricular canal defect have _______. AV can defect is surgically treatable.
- down syndrome
- Right to Left Shunt - Cyanotic - CHD includes
-
Tetralogy of Fallot
Transposition of the great vessels
Tricuspid atresia
Total anomalous PV connection
Truncus arteriosus - tetrology of fallot includes:
-
Narrowed pulmonary artery
interventricular septal defect
hypertrophied right ventricle
dextroposed aorta overriding septal defect - with TOF you probably see ______ of fingers
- clubbing
- examples of obstructive CHD
-
Coarctation of the aorta
Pulmonary stenosis or atresia
Aortic stenosis or atresia
Coronary artery origin from pulmonary artery - Coarctation of the aorta in ________ presents cyonotic and the _________ remains patent
-
Infants
ductus arteriosus - Coarctation of the aorta in ________ presents asymptomatic and the _________ is present
-
Adults
Ligamentous arteriosum - Coarctation of the aorta often affects _______ more than _______ and those with ______ syndrome
-
Males > Females
Turner syndrome -
You will often see characteristic ________
between pre- and post
coarctation segments - collaterals
-
Clinical presentation of coarctation of the aorta
is with ______ of upper extremities, ________ of lower extremities, & cold legs and claudication (limping). -
hypertension
Weak pulses - Aortic Stenosis includes these three types.
-
-valvular
-subvalvular
-supravalvular - Aortic Stenosis may be associated with dense, porcelain-like, ________ endocardial fibroelastosis
- left ventricular