Path Fall Ii Congenital Heart Disease

Front 1

what does congenital mean?

when do congenital heart defects occur

why?

Back 1

abnormality present at birth, can manifest at birth or delayed

3-8 weeks,

most are sporadic "why my baby" we dont know!

Front 2

why is day 28 criticle

Back 2

when neural crest migrates

**seperates the outflow of heart
**Defect in neiral crest seen in DiGeorge

Front 3

what makes the AV valves

Back 3

endocardial coushins

defect in down syndrome

Front 4

what makes the ventricular septum

Back 4

1. Muscle
2. Membranous- from neural crest

Front 5

what happens with a 22q11.2 deletion

Back 5

T Box microdeletion causes DiGeirge and partial diGeorge called velocardiofacial

**problem with neural crest migration

**Thymus is absent, no T cells
**Parathyroid is absent, hypocalcemiia
**heart disease: truncos arteriousus, TOF, double RV
**facies

Front 6

what common heart diseases are associated with a 22q11/2 deletion

Back 6

1. Truncous Arteriousus
2. TOF
3. Double RV

Front 7

what is stenosis
what is atresia

Back 7

stenosis: narrow

atresia: absent (no valve formed at all)

Front 8

what are the L to R shunts?

Back 8

pink babies, blue kids

VSD
ASD
PDA (aorta to pulm trunk)

Front 9

what are the R to L shunts?

Back 9

Blue babies, blood isnt maing it to the lungs

Tetralogy
Transposition of great vessels
Truncus
Tricuspid TAPVR (total anomalous pulmonary venous return)

Can see:
1. paradoxical emboli
2. clubbing of fingers
3. Polycythemia (more RBC- kidney senses hypoxia and sends out EPO to make more RBC)

Front 10

what are 3 consequences of R to L shunts

Back 10

R to L--> blood is not going to lungs

1. paradoxical emboli
2. clubbing
3. polycythemia (kidney sense decreased O2 and makes EPO to increase RBC)- increased risk for thrombus

**R to L are my "T's"
Truncous, TOF, Transposition, Tricuspid, TAPVR

Front 11

what is the fancy word for clubbing, when will you see it

Back 11

Hypertrophic Osteoarthropathy

**seen in R to L shunts, blue babies, all the T's

Front 12

when do we see polycythemie R to L or L to R

Back 12

polycysthemia when we are hypoxic, so seen in blue babies, this is R to L shunt, bypass lungs

Front 13

where does blood flow?

1. PDA
2. Tatralogy of Fallot (TOF)
3. ASD
4. VSD

Back 13

1. PDA: from aorta to pulm, L to R shung

2. TOF: VSD BUT also has pulm stenosis, so R vent to L vent

3. ASD: L atria to R atria (L to R)

4. VSD: L vent to R vent (L to R)

Front 14

in what type of shunt do we have pink babies? what will this lead to

Back 14

L to R

Increased flow to lungs so we get pulm HTN (eventually this leads to artherosclerosis, eventual hyperplastic arteriolosclerosis)

Front 15

what is eisenmengers syndrome

Back 15

L to R shunt that becomes a R to L shunt due to pulm HTN

Ex. VSD lets blood from L to R, eventually we have increased pulm HTN and then we get a R to L shunt

cor pulmonale

Front 16

what happens to VSD if left untreated

Back 16

initially a L to R shunt, but then we have lots of extra blood going to the Lungs and we develop Pulm HTN, this then increases the P in the R vent such that we have a R to L shunt

**Eisenmergers syndrome

*see hyperplastic arteriolosclerosis

Front 17

what is the arteriolo sclerosis that is benign, malignant

Back 17

benign- hylaine

malignant HTN- hyperplastic

Front 18

what pulmonary change is seen in a pt with Eisenmengers

Back 18

L to R that becomes R to L

**hyperplastic arteriolosclerosis, assocaited with malignant HTN

Front 19

what are the 4 things that can cause Eisenmengers

Back 19

1. VSD- most common
2. ASD
3. PDA
4. AV septal defect

**all the "d" L to R shunt, that increase pulm HTN and switch to R to L (causes late cyanosis)

Front 20

what is a jet stream injury

Back 20

its a common complication of the congenital heart disorders turbulent blood flow can increase risk of infective carditis

Front 21

wht is the most common ASD

Back 21

hole in septum secundum

Front 22

tell me about ASD,

L to R or R to L
Sx
Pulm HTN
Most common
Tx?

Back 22

L to R
often asymptomatic, mimics foramen ovale
Pulm HTN is uncommon
Common defect in septus secundum

Ya we treat them to prevent paradoxical emboli and infective endocarditis (not open heart surgery)

Front 23

what is the f of patent foramen ovale in adults?

what is the significance

Back 23

patent means open, hole

normal in neonates, when you breaath and L side of heart increases pressure this closes.

about 20% of adults have it not fused
**can open with pulmonary HTN (COPD, lung disease, asthma) seen with multilple/recurrent PE

Front 24

whats most common of the L to R shunts?

Back 24

ASD
VSD (membranous more common than muscular)
PDA

Front 25

where can the defect be in a VSD? what can happen over time

Back 25

1. Muscular- usually clse on their own

2. Membranous- MORE COMMON, neural crest problem

**over time pulm a can sclerosis bc of increased blood flow

Front 26

whats the presentation of large and small VSD

Back 26

1 LARGE
murmur at birth, R vent hypertrophy adn pulm HTN occur early

2. SMALL
LOUD! think of a whistle
complicated by jet injury- endocarditis

Front 27

A 2 month old male infant was brought for
evaluation of poor feeding and “rapid breathing.
Pregnancy and home delivery were uncomplicated.
In recent weeks mother had noted that infant
tendedto sweat during feedings. At other times
his breathing seemed fast and he was fussy.
• Physical exam: well‐developed, irritable infant
with pulse 160/min and respirations 72/min.
Skin and mucous membranes pink.

Back 27

pink baby- L to R shunt (TOF, Transposition, Tricuspid atresia, Truncus, TAPVR)

**not as much blood to body so increased RBC, clubbing

**eventually pressure in R increases and turns to a L to R and we get blue

Front 28

The precordium is hyperdynamic with systolic
and diastolic murmurs. The liver was slightly
enlarged. Biventricular hypertrophy was
evident on EKG. An echocardiograph
demonstrated a large infracristal ventricular
septal defect with dilatation of left atrium and
left ventricle.
Cardiac catheterization demonstrated moderate
pulmonary hypertension with normal
pulmonary vascular resistance.
The infant was treated with digoxin and lasix
and his symptoms gradually resolved. At 2 yrs.of age, his medications were discontinued. The murmur gradually decreased in intensity and disappeared by age 4 yr

why did the murmus go away
why the diastolic murmus

Back 28

it was muscular, they just go away as you got older

large volume of blood crossint mitral valve

Front 29

what does infracrystal VSD mean

Back 29

crystal meand crest, so

infra crest

means membranous VSD

Front 30

how can you keep PDA open, how can you close it

Back 30

END it with indomethacin

To KEEP it: PGE (prostaglandin E)

Front 31

tell me about PDA

Back 31

blodo from aorta to pulm trunk. L to R

**sounds like a machine murmur, continous

END with indomethacin/NSAIDS
KEEP with PGE (needs to be open for some congenital abnormalities)

Front 32

what is the embryo and most common association of AVSD

Back 32

AVDS- atrioventricular septal defect

L to R shunt

-failure of endocardial coushins to make AV valves- common AV valve

common in down syndrome

Front 33

what is down syndrome associated with

Back 33

endocardial coushin failure, no AV valves, we get one common one

L to R shunt

Front 34

what are the complications/clinical features of TOF,

Back 34

R to L (all the T's)

PROVe

1. Pulmonary stenosis** most important determininat for prognons
2. R vent hypertrophy
3. Overriding Aorta

**we have VSD, BUT we also have a pulm stenosis so the R vent increasese pressure and we have a R to L shunt

**classic boot shape
4. VSD

Front 35

what is the morphologic determant of the severity of TOF

Back 35

pulmonary stenosis

**neural crest that closes off septum didnt come down all the way and was shifted to the pulm side, this means smaller pulm and larger aorta

Front 36

what causes TOF

Back 36

Notch gene

**the neural crest has an uneven division of pulm a and aorta

**subpulmonic stenosis determines severity

Front 37

• A 1 day old infant turns blue when crying. She
was the product of an uncomplicated full term
gestation and delivery to a G1P1 mother with no
family history of heart disease. The infant appeared
well‐developed but faintly dusky just after birth. A more intense cyanosis was noted a short while
later when the infant began to cry. A systolic murmur was audible. The lungs sounded clear and the remainder of the physical examination was normal.

Chest x‐ray showed no cardiac enlargement.
The pulmonary vascular markings were
diminished. An EKG showed right ventricular
hypertrophy. An echocardiogram demonstrated
a large ventricular septal defect, a large aorta
and very small pulmonary arteries. There was a
severe pressure gradient across the pulmonic
valve. Pressures in right and left ventricles were
equal and no gradient was measured across the
septal defect

Back 37

blue baby, R to L shunt

TOF

give PGE to keep PDA open, let there be a L to R shunt so the blood can get oxygenated

Front 38

is TOF genetic, can we see it in older pts

Back 38

yep, notch gene

ya, the severity of subpulmonic stensosis determines severity

**R to L shunt- clubbing, polycysthemia

Front 39

transposition is associated with what

Back 39

DM

Front 40

what heart problem is associated with downs?
DeGeroge
DM
Turners (XO)

Back 40

Downs: endocardial defect, no AV valves

DiGeorge: 22q11.2, truncus, TOF, double outlet RV

DM: transposition

Turners: coarctation of aorta

Front 41

what is transposition of great vessesl

Back 41

aorticopulm septum doesnt spiral. RV goes to Aorta creating a systemic circut and LV hooked to pulm a creating a pulm circut.

Must have PDA, ASD or VSD to live. if PDS give PG E to keep it open. this is "stable type" stable has VSD

Unstable:not compatible, no shunt

REQUIRES IMMEDIATE SURGERY

Front 42

when is it a really good idea to give PGE

Back 42

when you have transposition of great vessles, in this case the systmic and pulm circut are not connected so the only way to oxygenate is through a defect. give PGE to keep PDA open

Front 43

what is persistent truncus arteriosus

what syndrome is it associated with

Back 43

single great artery that is fed by both ventricles

**VSD is common with it

**R to L shunt

**22q11.2 dletions are sommon

Front 44

what is it called if you dont have a seperate aorta/pulm artery. single outflow

Back 44

(persistent) truncus arteriosus

seen in 22q11.2 deletion (22q11.2 also sees TOF- degeorgi)

Front 45

define/describe tricuspid atresia

Back 45

R to L

**no valve forms, can see this in utero. bc no valve the R veny is really small. R atria is really big

**must have ASD or PDA, VSD also

**unequal division of AV canal

Front 46

what is TAPVC

Back 46

total anomalous pulmonary venous connection

R to L shunt, blue baby

Pulm veins dont enter L atrium, R heart hypertrophies

Front 47

what is it called whn the pulm veins dont enter the L artium

Back 47

TAPVC

Front 48

where is the problem with infintile coarctation and adult coarctation

Back 48

INfintile: coarctation is IN close to hte heart (before ductus arteriosus)

ADult; Distal to Ductus. rib notching, weak upper pulses- upper body HTN, lower body hypotension. claudication

Front 49

what are some associations with coarctation of aorta

Back 49

1. Valve defects, see a bicuspid aortic valve instead of tri

2. Berry Aneurysm, cicle of willis (2 to upper body HTN

3. Mitral regurg
4. ASD AVD

Front 50

what are the sx of coarctation

Back 50

1. Rib notching-
2. upper body HTN (berry aneurysm in circle of willis)
3. hypotension of LE- claudication, cold

Front 51

A 30 year old farmer was seen for dyspnea. He
admitted to aching calves with brisk walking.
He had no other symptoms.
• PE: BP 148/92 mmHg in the right arm, 148/72 in
the left arm while sitting. There was a grade 3/6
mid to late systolic murmur at the apex.
• EKG was normal. Echocardiogram revealed a
bicuspid aortic valve. Severe coarctation
of the descending aorta seen by Doppler
scanning

Back 51

coarctation see rib notching and bicuspid aorta. lots of collaterals
UE HTN, LE hypotesion

common in turners

Front 52

there will be a q on

Back 52

1. compare 22q11.2 and williams
2. Coaratation
3. TOF

Front 53

aortic stensosi

Back 53

narrowins, causes creseendo decresendo systolic murmus

Front 54

Hypoplastic Left Heart Syndrome

Back 54

when you have really bad aortic stenosis or even atresia- the L vent is underdeveloped as is the aorta, need PDA or surgery

keep PDA open with PGE

Front 55

what are some features of williams syndrome

Back 55

deletion of chromosome 7- elastin gene

2. thickend aorta with lumen constriction, supravalvualr stenosis

3. facies, cute, thick bottom lip, striambus

4. hyper calcemia (hypo in 22q11.2

Front 56

NOTCH
TBOX
ELN (elastin)

Back 56

TOF
22q11.2
Williams

Front 57

compare contrast williams and 22q11.2

1. calcuim
2. genes
3. faces
4. heart defect

Back 57

1. hypercalcemia in williams, hypo in 22q11.2

2. Elastin in williams, TBOX in 22q11.2

3. Faces in both (cuter in williams)

4. WIlliams, thick aorta with blocked lume, supravalvural stenosis. 22q11.2 truncus, TOF,

Front 58

what are complicatinos of heart transplant

Back 58

1. immunosuppression can cause lymphoma or infection (cytomegalovirus)

2. MI is silent in denervated heart