Congenital Cardiac Defects

Question 1

R to L shunts

Answer 1

Blue Babies (early cyanosis): 5 T's
Tetralogy of Fallot > Transposition of great vessels > persistant Truncus Arteriosus > Tricuspid atresia > TAPVR (total anomolous pulmonary venous return)
*All due to failed truncus arteriosus development (involving AP septum migration from neural crest), except TAPVR (?)

Question 2

Tetralogy of Fallot

Answer 2

PROVe: Pulmonary artery stenosis, RVH, Overriding aorta (overrides VSD), VSD

• R to L shunt (blue baby), Boot-shaped heart, squatting relieves symptoms by increasing PVR -> decreasing R to L shunt.
• D/t anterosuperior displacement of infundibular septum

Question 3

Transposition of Vessels

Answer 3

Due to failure of aorticopulmonary septum to spiral (from neural crest) -> Aorta leaves RV (anterior) and pulmonary artery leaves LV (posterior) -> Isolated systemic and pulmonary circulations.

• R to L shunt (blue baby)
• Not compatible unless shunt (VSD, PDA, or PFO) present

Question 4

Persistant Truncus Arteriosus

Answer 4

Failure of truncus arteriosus to divide into pulmonary trunk and aorta –> most patients have accompanying VSD
*R to L shunt (blue baby)

Question 5

Total Anomalous Pulmonary Venous Return (TAPVR)

Answer 5

Pulmonary veins drain into right heart circulation (SVC, coronary sinus, etc.); associated with ASD and sometimes PDA to allow for R to L shunting to maintain CO.
*R to L shunt (blue baby)

Question 6

Tricuspid Atresia

Answer 6

Absence of tricuspid valve and hypoplastic RV; requires ASD and VSD for viability
*Ebstein’s anomaly from Lithium: tricuspid leaflets displaced into RV -> hopoplastic RV, triscuspid regurg -> widely split S2, tricuspid regurg -> risk of SVT and WPW

Question 7

L to R shunts

Answer 7

Blue Kids (late cyanosis): VSD > ASD > PDA

Question 8

VSD

Answer 8

L to R shunt (blue kid): most common congenital cardiac anomaly -> Compensatory pulmonary vascular hypertrophy -> Pulmonary HTN -> Reversed shunt (R to L) -> Eisenmenger’s syndrome
*Late cyanosis, clubbing, polycythemia

Question 9

ASD

Answer 9

L to R shunt (blue kid): Compensatory pulmonary vascular hypertrophy -> Pulmonary HTN -> Reversed shunt (R to L) -> Eisenmenger’s syndrome

• Late cyanosis, clubbing, polycythemia
• Loud S1, Wide fixed split S2

Question 10

PDA

Answer 10

L to R shunt (blue kid): Compensatory pulmonary vascular hypertrophy -> Pulmonary HTN -> Reversed shunt (R to L) -> Eisenmenger’s syndrome

• Late cyanosis, clubbing, polycythemia
• PGE kEEps it open (and low O2); End with Endomethacin (Indomethacin)
• Continuous, “machine-like” murmur.

Question 11

Continuous, “machine-like” murmur

Answer 11

PDA

Question 12

22q11 syndromes Heart Defects

Answer 12

Tetralogy of Fallot, persistent Truncus Arteriosus

Question 13

Tetralogy of Fallot, persistent Truncus Arteriosus Associations

Answer 13

22q11 syndromes

Question 14

Trisomy 21 Heart Defects

Answer 14

ASD, VSD, AV septal defect (endocardial cushion defect)

Question 15

ASD, VSD, AV septal defects Associations

Answer 15

Trisomy 21

Question 16

Congenital rubella heart defects

Answer 16

Septal defects, PDA, Pulmonary Artery Stenosis

Question 17

Septal defects, PDA, Pulmonary Artery Stenosis Association

Answer 17

Congenital Rubella

Question 18

PDA Association

Answer 18

Congenital Rubella (+ septal defects, pulmonary artery stenosis), or Transposition of great vessels (diabetic mother)

Question 19

Turner Syndrome Heart Defects

Answer 19

Coarctation of the Aorta (usually preductal aka infantile): aortis stenosis proximal to DA, can cause aortic regurgitation

Question 20

Coarctation of the aorta Association

Answer 20

Turner Syndrome
Adult type: stenosis distal to ligamentum arteriosum (commonly associated with bicuspid atrial valve), can cause aortic regurgitation
*Notching of ribs (collateral circulation), upper extremity HTN, weak pulses in lower extremities

Question 21

Marfan Syndrome Heart Defects

Answer 21

Aortic insufficiency -> Dissection

Question 22

Aortic insufficiency Association

Answer 22

Coarctation of aorta (Turner’s or Bicuspid Aortic Valve) or Marfan Syndrome (leading to Dissection)

Question 23

Gestational Diabetes Heart Defects

Answer 23

Transposition of great vessels; Hypglycemia; Erb-Duchenne Palsy (C5-C6 injury due to clavicle fracture)

Question 24

Transposition of Great Vessels Association

Answer 24

Diabetic mother