Pathology Congenital Defects

Front 1

Name 7 common congenital malformations

Back 1

(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)

Front 2

Name 2 neural tube defects (NTDs)

Back 2

Spina bifida and anencephaly

Front 3

Name 2 diagnostic associations with NTDs during gestation

Back 3

increased serum and amniotic fluid levels of a-fetoprotein

Front 4

How can the incidence of NTDs be reduced?

Back 4

Folate ingestion during pregnancy

Front 5

What kind of shunts cause early cyanosis?

Back 5

R-to-L "blue babies"

Front 6

What kind of shunts cause late cyanosis?

Back 6

L-to-R "blue kids"

Front 7

Name 3 common R-to-L shunts.

Back 7

The 3 T's: Tetralogy of Fallot (most common cause of early cyanosis), Transposition of the great vessels, truncus arteriosus

Front 8

What might you see children with a R-to-L shunt do to relieve discomfort?

Back 8

Squat to increase venous return

Front 9

Name 3 common L-to-R shunts.

Back 9

VSD, ASD, PDA

Front 10

Rank them in order of frequency

Back 10

VSD > ASD > PDA

Front 11

What are the auscultatory signs of an Atrial Septal Defect?

Back 11

Loud S1; wide, fixed split S2

Front 12

How do you treat PDA?

Back 12

Indomethacin

Front 13

Name 3 sequelae of L-to-R shunts.

Back 13

1) Increased pulmonary resistance due to arteriolar thickening. 2) Progressive pulmonary HTN 3) R-to-L shunt (Eisenmenger's)

Front 14

What are signs/symptoms of Eisenmenger's?

Back 14

Late cyanosis, clubbing, polycythemia

Front 15

Tetrology of Fallot: What is the Tetrology?

Back 15

(1) Pulmonary Stenosis (2) RVH (3) Overriding aorta (4) VSD (mnemonic: PROVe)

Front 16

Tetrology of Fallot: What is the direction of the shunt in the tetralogy?

Back 16

right-to-left across the VSD

Front 17

Tetrology of Fallot: What is the x-ray finding on the tetralogy?

Back 17

Boot-shaped heart due to RVH

Front 18

Tetrology of Fallot: What is the embryological cause of the tetralogy?

Back 18

Anterosuperior displacement of the infundibular septum.

Front 19

transposition of great vessels occurs because of a failure of the --------------- --------- to -------

Back 19

failure of the aorticopulmonary septum to spiral

Front 20

In transposition of the great vessels, the aorta leaves ------------ and the pulmonary trunk leaves the ------------

Back 20

aorta leaves the RV (anterior) and the pulmonary trunk leaves the LV (posterior)

Front 21

How might transposition of the great vessels, be compatible with life?

Back 21

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.

Front 22

Transposition of the great vessels is a common congenital heart disease in offspring of mothers with what disease?

Back 22

Diabetes

Front 23

Coarctation of aorta: Where is the aortic stenosis in the infantile type of coarctation?

Back 23

Preductal (proximal to insertion of ductus arteriosus) - INfantile (in close to heart)

Front 24

Coarctation of aorta: Where is the aortic stenosis in the adult type of coarctation?

Back 24

Postductal (distal to ductus arteriosus). - ADult (Distal to Ductus)

Front 25

Coarctation of aorta: Name 3 symptoms in adult type coarctation?

Back 25

(1) Notching of the ribs (2) HTN in upper extremities (3) Weak pulses in upper extremities

Front 26

Coarctation of aorta: What is the Male-to-Female ratio in coarctation?

Back 26

3-to-1

Front 27

Coarctation of aorta: What pulses should you check on physical exam?

Back 27

Femoral

Front 28

Which direction is the shunt in a neonate with PDA?

Back 28

Left-to-right

Front 29

What change occurs to the heart in PDA?

Back 29

RVH and failure

Front 30

What is the auscultatory finding in PDA?

Back 30

Continuous, "machine-like" murmur.

Front 31

How is patency maintained in PDA?

Back 31

PGE synthesis and low Oxygen tension.

Front 32

What drug is used to close a PDA?

Back 32

Indomethacin

Front 33

How is a PDA kept open?

Back 33

PGE

Front 34

Why would you want to keep a PDA open?

Back 34

To sustain life in conditions such as transposition of the great vessels.