8.3 Congenital Defects

Question 1

Describe the relationship between shunt direction and onset of cyanosis

Answer 1

Left - Right shunts can be asymptomatic at first, but can lead to Eisenmenger syndrome with a presentation of late cyanosis

Right - Left shunts present with cyanosis early

Question 2

What is Eisenmenger syndrome?

Answer 2

Left - Right shunts lead to pulmonary congestion and eventual pulmonary HTN leading to increased pressures in the right heart until the shunt switches to a Right - Left shunt leading to cyanosis. The classic features of the syndrome are polycythemia from the hypoxia, clubbing of extremities, and right ventricular hypertrophy

Question 3

What congenital cardiac defect is associated with fetal alcohol syndrome?

Answer 3

VSD

Question 4

What congenital cardiac defect is associated with down’s syndrome?

Answer 4

ASD

Question 5

What congenital cardiac defect is associated with congenital rubella?

Answer 5

PDA

Question 6

What congenital cardiac defect is associated with cyanotic spells that are treated by the patient squatting?

Answer 6

Tetralogy of Fallot

Squatting helps by raising the arterial pressure which decreases the R-L shunt improving the cyanosis by directing more blood to the lungs.

Question 7

What congenital cardiac defect is associated with maternal diabetes?

Answer 7

Transposition of the great vessels

Question 8

What congenital cardiac defect is associated with Turner syndrome? What two types are there and what are they also associated with?

Answer 8

Coarctation of the Aorta

Infantile: PDA and LE cyanosis

Adult: no PDA, rib notching, BP disparity between UE/LE, bicuspid aortic valve

Question 9

Which of the conditions lead to a Left-Right shunt?

Answer 9

VSD, ASD, PDA

Question 10

Which of the conditions leads to a Right-Left shunt?

Answer 10

Tetralogy, Transposition of vessels, Truncus arteriosis, Tricuspid atresia

Question 11

What are the features of tetralogy of fallot?

Answer 11

1. RV outflow stenosis
2. RVH
3. VSD
4. Overriding aorta

Boot shaped heart

Question 12

What two conditions should be considered with LE cyanosis?

Answer 12

Infantile coarctation as the narrowing occurs between the PDA and the branching of the aortic vessels

PDA itself as this is distal to the branching of the vessels

Question 13

Which condition is treated with indomethacin?

Answer 13

PDA to decrease the PGE which maintains the PDA

Question 14

Which condition should be given PGE to maintain the PDA to preserve life?

Answer 14

Transposition of the great vessels

Question 15

Describe VSD

Answer 15

Most common heart defect
Assoc. with fetal alcohol syndrome
Left-Right shunt, size of defect determines when in life symptoms develop
Can lead to Eisenmenger syndrome
Treat with surgery

Question 16

Describe ASD

Answer 16

Two types: Secundum (most common), Primum (assoc. with Down’s
Left-Right shunt, split S2
Paradoxical emboli possible

Question 17

Describe PDA

Answer 17

Assoc. with congenital Rubella
Left-Right shunt between aorta and pulmonary artery
Machine-like murmur
Can lead to Eisenmenger syndrome leading to LE cyanosis
Treat with Indomethacin to decrease PGE

Question 18

Describe Tetralogy of Fallot

Answer 18

RV outflow stenosis, RVH, VSD, overriding aorta
Right-Left shunt causing early cyanosis, degree of stenosis determines extent of symptoms
Patients squat during cyanotic spells to decrease Sx
Boot shaped heart

Question 19

Describe transposition of the great vessels

Answer 19

Associated with maternal DM
Early cyanosis
Creation of PDA needed to preserve life
Hypertrophy of RV and atrophy of LV

Question 20

Describe truncus arteriosis

Answer 20

Early cyanosis

Question 21

Describe tricuspid atresia

Answer 21

Tricuspid orifice fails to develop leading to ASD and hypoplastic RV
Right-Left shunt with early cyanosis

Question 22

Describe coarctation of the aorta

Answer 22

Infantile: assoc. with PDA and Turner syndrome, narrowing between vessels and PDA, LE cyanosis around birth

Adult: no PDA, narrowing after vessels leading to UE HTN and LE low BP, notching of ribs, bicuspid aortic valve

Question 23

What are the conditions to consider when you are presented with a blue baby?

Answer 23

Remember the 5 T's:
Tetralogy
Transposition
Truncus
Tricuspid atresia
Total anomalous pulmonary venous return

And, Coarctation

Question 24

Which condition has a fixed-split S2 on auscultation?

Answer 24

ASD

Question 25

Which condition can have a large pulse pressure and bounding pulses?

Answer 25

PDA

Because the blood in the aorta has more places to go causing a decrease in the diastolic pressure

Question 26

In what condition is it beneficial to maintain the PDA?

Answer 26

Tetralogy
Transposition
Total anomalous pulmonary venous return