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pathology congenital defects


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Name 7 common congenital malformations
(1) Heart Defects (congenital rubella) (2) Hypospadias (3) Cleft lip with or without cleft palate (4) congenital hip dislocation (5) spina bifida (6) anencephaly (7) pyloric stenosis (associated with polyhydramnios & projectile vomiting)
Name 2 neural tube defects (NTDs)
Spina bifida and anencephaly
Name 2 diagnostic associations with NTDs during gestation
increased serum and amniotic fluid levels of a-fetoprotein
How can the incidence of NTDs be reduced?
Folate ingestion during pregnancy
What kind of shunts cause early cyanosis?
R-to-L "blue babies"
What kind of shunts cause late cyanosis?
L-to-R "blue kids"
Name 3 common R-to-L shunts.
The 3 T's: Tetralogy of Fallot (most common cause of early cyanosis), Transposition of the great vessels, truncus arteriosus
What might you see children with a R-to-L shunt do to relieve discomfort?
Squat to increase venous return
Name 3 common L-to-R shunts.
Rank them in order of frequency
What are the auscultatory signs of an Atrial Septal Defect?
Loud S1; wide, fixed split S2
How do you treat PDA?
Name 3 sequelae of L-to-R shunts.
1) Increased pulmonary resistance due to arteriolar thickening. 2) Progressive pulmonary HTN 3) R-to-L shunt (Eisenmenger's)
What are signs/symptoms of Eisenmenger's?
Late cyanosis, clubbing, polycythemia
Tetrology of Fallot: What is the Tetrology?
(1) Pulmonary Stenosis (2) RVH (3) Overriding aorta (4) VSD (mnemonic: PROVe)
Tetrology of Fallot: What is the direction of the shunt in the tetralogy?
right-to-left across the VSD
Tetrology of Fallot: What is the x-ray finding on the tetralogy?
Boot-shaped heart due to RVH
Tetrology of Fallot: What is the embryological cause of the tetralogy?
Anterosuperior displacement of the infundibular septum.
transposition of great vessels occurs because of a failure of the --------------- --------- to -------
failure of the aorticopulmonary septum to spiral
In transposition of the great vessels, the aorta leaves ------------ and the pulmonary trunk leaves the ------------
aorta leaves the RV (anterior) and the pulmonary trunk leaves the LV (posterior)
How might transposition of the great vessels, be compatible with life?
If a shunt (e.g. VSD, PDA or patent foramen ovale) exists, blood from the systemic and pulmonary circulations can mix. Clinicians use PGE to keep PDA open.
Transposition of the great vessels is a common congenital heart disease in offspring of mothers with what disease?
Coarctation of aorta: Where is the aortic stenosis in the infantile type of coarctation?
Preductal (proximal to insertion of ductus arteriosus) - INfantile (in close to heart)
Coarctation of aorta: Where is the aortic stenosis in the adult type of coarctation?
Postductal (distal to ductus arteriosus). - ADult (Distal to Ductus)
Coarctation of aorta: Name 3 symptoms in adult type coarctation?
(1) Notching of the ribs (2) HTN in upper extremities (3) Weak pulses in upper extremities
Coarctation of aorta: What is the Male-to-Female ratio in coarctation?
Coarctation of aorta: What pulses should you check on physical exam?
Which direction is the shunt in a neonate with PDA?
What change occurs to the heart in PDA?
RVH and failure
What is the auscultatory finding in PDA?
Continuous, "machine-like" murmur.
How is patency maintained in PDA?
PGE synthesis and low Oxygen tension.
What drug is used to close a PDA?
How is a PDA kept open?
Why would you want to keep a PDA open?
To sustain life in conditions such as transposition of the great vessels.

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