Items To Review

Question 1

Pompes Disease

Answer 1

GSD2,

Question 2

PKU (and a similar disorder)

Answer 2

Deficiency of PAH (converts phenylalanine to tyrosine), P toxic to brain, T needed for melanin = fair eyes/hair
Similar disorder - tetrahydrobiopterin (PAH cofactor)

Question 3

Abnormal odor and IEM:
Maple syrup
Boiled cabbage
Fish
Sweaty foot

Answer 3

MSUD
Tyrosinemia
3 methylcrotonylglycinuria
Glutaric aciduria 2

Question 4

Galactosemia

Answer 4

Galactose 1 phosphate uridyltransferase def (GALT)
Poor feeding lethargy jaundice cataracts E. coli sepsis
Tx: dietary restriction (no lactose). Even with tx can have mental retardation.
Girls have premature ovarian failure.

Question 5

MCAD def

Answer 5

Most common d/o fatty acid oxidation.
Usually asymptomatic as neonate. Can have vomiting, HM, lethargy, coma, seizures with fasting or an illness.
Increased C6-10 acylcarnitines.

Question 6

Ectopic atrial contraction

Answer 6

180-240 bpm
Speeds up and slows down
Atrial contraction before vent ctx

Question 7

HLHS management

Answer 7

Norwood palliation. Atrial septectomy and convert RV into the main ventricle for pulm and systemic flow. MPA and Ao are connected, MPA disconnected from PAs. Shunt placed from PA to lungs.
Then Glenn then fontan.

Question 8

Tx for SVT
Tx for AV reentry tachycardia

Answer 8

SVT - digoxin
AVRT - amiodarone

Question 9

Hydrocortisone mechanism

Answer 9

Inhibit NO synthase
Upregulate adrenergic receptors
Upregulate angiotensin II receptors
Inhibit catecholamine metabolism.
Increase intracellular Ca.

Question 10

Milrinone mechanism

Answer 10

Phosphodiesterase 3 inhibitor. Decreases breakdown of cAMP = increases Ca influx to cells.
Inotropic, inodilator, lusitrope.

Question 11

Norepi mechanism

Answer 11

Activates alpha1,2 and beta1 receptors to increase SVR and CO. Greater systemic constriction than pulmonary

Question 12

Ebstein anomaly associated with which EKG abnormality

Answer 12

RBBB. Also WPW

Question 13

DM CHD

Answer 13

VSD
DORV
TA

Question 14

HCM in IDM

Answer 14

Histologically different than congenital HCM. Caused by insulin and hyperglycemia. Supportive care, can be reversible, treatment includes beta blockers to improve ventricular output.

Question 15

Most common cause hypertrophic cardiomyopathy and Tx

Answer 15

Noonans
Beta blocker

Question 16

How to assess atrial communication in fetal echo for HLHS

Answer 16

Flow reversal thru pulmonary vein in atrial systole

Question 17

Dobutamine mechanism

Answer 17

Acts on alph. and beta without releasing norepi. Increased myocardial contractility and vasodilation of peripheral vasculature

Question 18

CCHDs

Answer 18

HLHS, PA intact septum, ToF, TAPVR, TGA, TA, TA

Question 19

PHACES

Answer 19

Posterior fossa anomalies
Hemangioma
Arterial anomalies
Cardiac
Eye anomalies

Question 20

LEOPARD syndrome

Answer 20

Lentigines
It is Noonans with lentigines

Question 21

Graves

Answer 21

> 90% babies born to graves moms habe subclinical thyrotoxicosis. fT4 peak at 5 days. 1-5% are diagnosed.

PTU drug of choice. Methimazole is teratogenic

Question 22

Smith lemli optiz

Answer 22

7a dehydrocholesterol reductase deficiency.
Impaired choles synth. Cardiac, cleft palates, syn poly dactyly , amb gebitalia

Question 23

Goldenhar syndrome

Answer 23

Ear abnormalities, eyelid notching abnormalities (eyelid coloboma), spinal deformity like scoliosis

Question 24

Failed hearing screen sensorineural deficit

Answer 24

Hearing aid trail if no improvement by 1 year then cochlear implant may be good, better to get by 12 mo

Question 25

Follow up schedule for ROP if treated with becavizumab

Answer 25

45-55 weeks PMA and up to 65 weeks

Question 26

3 types of lymphatic malformations

Answer 26

Macrocystic - cystic hygroma usually head and neck Micro cystic - can look like vesicle clusters that leak lymphatic fluid Mixed

Question 27

When to fu ROP in 1 week

Answer 27

If zone 1 any stage or any stage 3

Question 28

Brachial plexus injuries - what innervates upper middle and lower roots - what root gives Horner syndrome - what are the clinical palsies - 4 palsy groups

Answer 28

- C5-6, C7, C8-T1 - lower root - Erb (upper c5-7, waiters tip, intact grasp). Klumpke (grasp absent, rare), and total - 1- c5-6, 90% recovery rate, 2- 65%

Question 29

Covid isolation

Answer 29

Vertical - test 24-72 h and remove from isolation if negative Horizontal - test at 0 and then 5-7 days and isolate 10 days regardless Need droplet for low flow and airborne for high flow