Congential Defects

Question 1

Atrial Septal Defect

Answer 1

• Most commonly septum secundum, can be septum primum in downsyndrome
• DX: S2 splitting (closure of aortic valve and pulmonary valve are not synchronized)
• Causes a L to R shunt and may allow emboli to enter systemic circulation.

Question 2

Ventricular Septal Defect

Answer 2

-Most common
-Occurs because there is not complete fusion of the muscular and membranous septum. Defect is generally in membranous
Symtpoms L to R shunting = easy fatiguability, can cause RV hypertrophy, pulmonary HTN and reversal to R to L shunt. Will lead to eisenberg’s: hypoxia, cyanosis, polycythemia, clubbing
Dx: Harsh holosystolic murmur at lower left sternal border

Question 3

Persistent Truncus Arteriosus

Answer 3

• Normally outflow tract is divided by conotruncal ridges (cushion tissue) and neural crest cells. If this doesn’t occur the single outflow tract is maintained.
• Symptoms: Blood mixing and cyanosis

Question 4

Transposition of the Great Vessels

Answer 4

-Normally there is 180 degree rotation of the outflow tract to generate the aorta on the LV and Pulmonary on the RV. Improper rotation leads to transposition. 2 separate circualtions.
Symptoms: Profound early cyanosis.
Tx: must keep DA open, administer PGE to keep open.
-Associated with maternal diabetes

Question 5

Tetrology of Fallot

Answer 5

-Nerual Crest defect most commonly, seen in DiGeorge syndrome. Pulmonary Artery Stenosis, RV hypertrophy, VSD, Overriding Aorta.
Symptoms: Cyanosis from R to L shunt and overriding aorta.
Symptoms: Cyanoisis. Boot shaped heart. Patients may experince relief by squating and increasing systemic resistance therefore shunting blood through the pulmonary vascualature.

Question 6

Persistent Ductus Arteriosus

Answer 6

-As a fetus, the DA allows for flow to occur between the oxygenated pulmonary circulation and the aorta. Does not close at birth. At birth presure higher on left leads to pulmonary hypertension and RV hypertrophy
-Symptoms: pHTN and RV hypertophy. Cyanosis.
Dx: Holosystolic murmur. Associated with maternal rubella infection.
Tx: PGE keeps open, therefore adminsiter indomethacin which is a COX inhibitor and stops PDE formation.

Question 7

Tricuspid Atresia

Answer 7

• Dysformation of the tricuspid valve, absent. No flow from RA to RV Leads to hypoplasia of the RV. Must have an ASD to survive. Also keep DA open with PGE.

Question 8

Coarcation of the Aorta

Answer 8

-Narrowing of the aorta proximal to the DA and distal to the arch. Infantile form attempt to keep PDA. Adult form there is formation of extensive collateral circualtion through intercoastals that bypasses the coarctation.
Symptoms: Hypertension in the upper extremeties and obvious hypotension in the lower extremeties. In adult form there will also be pitting of the ribs because of the siginificant hyperplasia of the intercostal arteries.
-Associated with bicuspid aortic valve and turner syndrome.