Last edited: 6/7/2022

CYANOTIC CONGENITAL HEART DEFECTS

Cyanotic Congenital Heart Defects Medical Editors: Aldrich Christiandy

I) INTRODUCTION
II) TETRALOGY OF FALLOT
(A) RISK FACTORS
(B) CLINICAL PICTURE
(C) DIAGNOSTIC TEST
(D) MANAGEMENT
III) TRANSPOSITION OF THE GREAT
ARTERIES
(A) RISK FACTORS
(B) CLINICAL PICTURES
(C) DIAGNOSTIC TESTS
(D) MANAGEMENT
OUTLINE
IV) TRUNCUS ARTERIOSUS / VI) TRICUSPID ATRESIA VIII) HYPOPLASTIC LEFT HEART
PERSISTENT TRUNCUS ARTERIOSUS (A) AGE OF PRESENTATION SYNDROME
(A) RISK FACTORS (B) CLINICAL PICTURES (A) AGE OF PRESENTATION
(B) CLINICAL PICTURES (C) DIAGNOSTIC TESTS (B) CLINICAL PICTURE
(C) DIAGNOSTIC TOOLS (D) MANAGEMENT (C) DIAGNOSTIC TESTS
(D) MANAGEMENT VII) EBSTEIN ANOMALY (D) MANAGEMENT
V) TOTAL ANOMALOUS (A) RISK FACTORS IX) REVIEW QUESTIONS
PULMONARY VENOUS RETURN (B) CLINICAL PRESENTATION
(A) STRUCTURE (C) DIAGNOSTIC TESTS
(B) CLINICAL PICTURES (D) MANAGEMENT
(C) DIAGNOSTIC TESTS
(D) MANAGEMENT

I) INTRODUCTION

Cyanotic congenital heart defects In this cyanotic condition

o Obviously, these causes cyanosis (bluish o We can actually think about them as the opposite
discoloration) of the baby situation
If we think back to acyanotic condition with o They’re called right-to-left shunts
o Atrial septal defect ▪ Shunting deoxygenated blood from the right
o Ventricular septal defect side of the heart into the left side of the heart
o Endocardial cushion defect When we shunt deoxygenated blood into the systemic
o Patent ductus arteriosus circulation
These are primarily within the left-to-right shunt o We drop the actual systemic SaO2 (saturation of
category O2)
o They were shunting blood from o This causes bluish discoloration of the baby’s skin
▪ Left atrium → right atrium and another problem
▪ Left ventricle → right ventricle What we’ll be discussing for each type
▪ Aorta → pulmonary artery o Definition
o Risk factors
o Age of presentation
o Clinical pictures
o Diagnostic tests
o Treatments
▪ Acute and surgical

Cyanotic Congenital Heart Defects CARDIOVASCULAR PATHOLOGY: Note #27. 1 of 14

 II) TETRALOGY OF FALLOT

There are 4 particular findings

o Ventricular septal defect (VSD)
o Right ventricular hypertrophy
▪ Thickening of the right ventricle
o Pulmonary stenosis
o Overriding aorta
▪ Aorta is kind of overriding both left and right ventricle
• At the level of the ventricular septal defect

(A) RISK FACTORS (3) Auscultation – Single S2 and systolic ejection

murmur
DiGeorge syndrome
o Deletion in chromosome 22 Remember
o They have abnormal or no complete development of S1 sound
▪ Thymus o Closure of the tricuspid valve and mitral valve
• Important for T cell development S2 sound
▪ Parathyroid o Closure of aortic valve (A2) and pulmonary valve (P2)
▪ Heart defects

(B) CLINICAL PICTURE (i) Single S2

(1) Cyanosis
Patient has pulmonary stenosis → the pulmonary area
is super narrow
o Blood is very difficult to get from the right
ventricle into the pulmonary artery
Absence of P2
Because we’re trying to push blood into pulmonary artery
→ but it’s not going that way
o Because we have very big obstruction
o So, it shunts the blood into the left ventricle

What happens next is we start shunting blood from the (ii) Systolic ejection murmur
right side of the heart into the left side of the heart
The left ventricle is also pumping a lot of blood into the
via ASD
aorta
o So that we can push the blood into the aorta
So, there are lots of blood from both left ventricle and
In the aorta we’re having mixture of right ventricle being pumped into aorta
o Oxygenated blood from the left ventricle o This causes systolic ejection murmur
o Deoxygenated blood from the right ventricle o Can be heard at left upper sternal border
(2) Tet spells (C) DIAGNOSTIC TEST
These patients develop cyanosis (1) Chest X-Ray
o But it’s exacerbated by very specific triggers
during exertion Boot-shaped heart → pathognomic
▪ When they’re crying or even feeding (2) EKG
o During these time periods, can trigger cyanotic event
▪ Bluish discoloration due to hypoxemia Tend to have right-axis-deviation
(3) Echocardiogram (Gold standard)
Definite diagnostic test
Echo will be able to show us that they have
o Ventricular septal defect
o Right ventricular hypertrophy
o Right ventricular outflow tract obstruction →
pulmonary stenosis
o Overriding aorta

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 (D) MANAGEMENT
(1) Acute management (2) Surgical management
(i) Baby squat (i) Open the right ventricular outflow tract area
Very specific for the “tet spell” Go in and dilate, stretch open the right ventricular outflow
o When they’re exerting themselves (e.g., feeding) tract area
What we want to do is to make the blood not going
from the right ventricle into left ventricle and up to
(ii) Close the VSD
aorta So that we don’t shunt blood form the right to the left
o We can have the baby squat
▪ They actually learn this kind of incidentally (iii) Palliative shunt
When they squat down Sometimes we’ll put palliative shunt
o They actually squeeze their femoral arteries o Shunts blood from the pulmonary artery to the
o Increase the systemic vascular resistance of aorta subclavian artery
▪ Pressure in aorta is now higher → afterload is Summary
higher Tetralogy of fallot
• It’s harder to push blood from the right o RVH
ventricle to left ventricle o Pulmonary stenosis
o Right ventricle says, “Hey man, the pressure’s way o VSD
too high over here. I’m not going to push it here.” o Overriding aorta
▪ So, it reduces the mixing of the blood Think about DiGeorge Syndrome
Clinical features
(ii) Relax the stenotic area due to spasm o Cyanosis
Sometimes the stenotic area can spasm o Tet spells during aggravating factors
o When we try to relax it, we may be able to get a little o Systolic ejection murmur
▪ Due to increased aortic flow
bit more blood flow
o Single S2 sound
Morphine and 𝜷-blockers have been shown to be able ▪ Due to no blood flow through the pulmonary artery
to relax the actual spasmed area of the pulmonary area Diagnostic test
o Oxygen (O2) also has been shown to be able to dilate o Chest X-Ray
pulmonary vessels ▪ Boot-shaped heart
If we can get the blood into pulmonary artery o Echo
o We’re not shunting it over into the left ventricle and ▪ Definitive diagnostic test
aorta → not mixing the blood Management
o Baby squat
o Relax the spasmed area
o Open the right ventricular outflow tract area
o Close the VSD
o Palliative shunt

Cyanotic Congenital Heart Defects CARDIOVASCULAR PATHOLOGY: Note #27. 3 of 14

 III) TRANSPOSITION OF THE GREAT ARTERIES

Normally during embryonic development

o The arteries, particularly the pulmonary artery and aorta are supposed to kind of spiral and split
▪ We get pulmonary artery coming out of the right ventricle
▪ And the aorta coming out from the left ventricle
In this process
o They don’t actually spiral
▪ Failed spiraling of the aortic area and aortic pulmonary septum
o This leads to the aorta opening up into the right ventricle
▪ And pulmonary artery opening up into the left ventricle
This is called transposition of the great arteries
o Where the left ventricle empties into the pulmonary artery
o And the right ventricle empties into the aorta

(A) RISK FACTORS (3) Auscultation → Very loud S2 (single-sounding)

DiGeorge syndrome Remember
o Deletion in chromosome 22
o They have abnormal or no complete development of S1 sound
▪ Thymus o Closure of the tricuspid valve and mitral valve
▪ Parathyroid S2 sound
▪ Heart defects o Closure of aortic valve (A2) and pulmonary valve (P2)
Maternal diabetes
We still have the closure of the valves here
(B) CLINICAL PICTURES In this situation we’ll have a very loud S2
o But, we only actually have single sounding S2
(1) Cyanosis
▪ No splitting
The aorta is now getting blood from the right ▪ No murmur
ventricle
Remember in tetralogy of Fallot we have
→ Pumping all deoxygenated blood to the systemic
o Systolic ejection murmur
circulation
Unlike in tetralogy of Fallot where there are some mixing (C) DIAGNOSTIC TESTS
(some oxygenated and deoxygenated blood)
o In this situation, we’re literally pumping all (1) Chest X-Ray
deoxygenated blood from right ventricle into aorta Egg-on-a-string
(2) Reflexive tachypnea Remember in tetralogy of Fallot
o Boot-shaped heart
Whenever O2 levels are so low
o It stimulates the chemoreceptors (2) EKG
▪ Aortic bodies Tend to be normal
▪ Carotid bodies
o It then triggers a reflexive tachypnea (3) Echocardiogram (Gold standard)
▪ So, the babies are trying to breath really fast to Most definite diagnostic test
pull in more O2 Aorta rising anteriorly from the right ventricle
And the pulmonary artery arising posteriorly from the left
ventricle

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 (D) MANAGEMENT
(1) Acute management
Remember the right ventricle is pumping literally all
deoxygenated blood into the systemic circulation
o We have to mix the blood via ASD
(i) Balloon atrial septostomy
If the baby doesn’t have ASD
o We’ll literally go in and poke a hole in their atria
o Enter atrial septum → make a hole or make it bigger
→ balloon atrial septostomy
What it does is allows blood to go from the left atrium
into the right atrium
o Now we can push some oxygenated blood into the
right side of the heart → aorta
(ii) Keep the PDA (patent ductus arteriosus) open
Use prostaglandin E1 to keep PDA open
Push blood via the patent ductus arteriosus into the
pulmonary artery
o Pulmonary artery → pulmonary vein
→ We have ASD to keep shunting all the blood into
the right side of the heart to mix the blood
(2) Surgical management
The acute managements are not going to be helpful in the
end game until we switch the arteries back to where they
were supposed to
o Put the aorta coming out of the left ventricle
o Pulmonary artery coming out of the right ventricle

IV) TRUNCUS ARTERIOSUS / PERSISTENT TRUNCUS ARTERIOSUS

One big trunk that is emerging from both the right ventricle and left ventricle → truncus arteriosus
Remember
Tetralogy of Fallot Transposition of the great arteries
o Right ventricular hypertrophy o We switch them
o Pulmonary stenosis ▪ Right ventricle → aorta
o VSD ▪ Left ventricle → pulmonary trunk
o Overriding aorta
Structure
o Single trunk emerging from right and left ventricle and actually bifurcates into
▪ Pulmonary arteries
▪ Aorta
o They also have ventricular septal defect present

(A) RISK FACTORS

DiGeorge syndrome
o Deletion in chromosome 22
o They have abnormal or no complete development of
▪ Thymus
• Important for T cell development
▪ Parathyroid
▪ Heart defects

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 (B) CLINICAL PICTURES
(1) Cyanosis
Similar with tetralogy of Fallot
o Pushing deoxygenated blood from the right
ventricle into the truncus arteriosus
o Pushing oxygenated blood from the left ventricle
into the truncus arteriosus
But all of these bloods are actually flooding into the
pulmonary circulation → aorta
We’re having total mixing of blood into the truncus
arteriosus
(2) Left-sided heart failure
We’re pumping a ton of blood into this single trunk
o Remember the trunk bifurcates into the aorta and
pulmonary arteries
o The pulmonary arteries are getting way more
blood flow than they are used to
So the pulmonary arteries are filling the lungs and
pulmonary veins
o And subsequently into the left ventricle
If we get so much blood coming into the left side of the
heart
o Eventually the left side of the heart will be strained
and fail
→ They will develop left-sided heart failure
(3) Auscultation (Systolic ejection murmur + single S2)
Systolic ejection murmur
o Due to pushing a ton of blood through a single trunk
Single S2
o They don’t have pulmonary valve and aortic valve
▪ They just got one big trunk that’s opening up into
both
6 of 14 CARDIOVASCULAR PATHOLOGY: Note #27.
(C) DIAGNOSTIC TOOLS
(1) Chest X-Ray
(i) Increased pulmonary vasculature
Remember we’re pushing a ton of blood out the right and
left ventricle into a single trunk which bifurcates into the
pulmonary artery and aorta
o The actual pulmonary vascular vessels are going
to get hit with a lot of blood flow
o So, the pulmonary vasculature will actually be
more intense
▪ Increased pulmonary blood flow
▪ Increased pulmonary vasculature
(ii) Evident cardiomegaly
Because if we have a lot of pulmonary blood flow
o We’re pushing out a lot of blood back into the left side
of the heart
o The left side of the heart has to accommodate all the
volume
(2) EKG
Biventricular failure
o Left ventricular hypertrophy and right ventricular
hypertrophy
o But, we’ll focus more on increased pulmonary blood
flow and cardiomegaly
(3) Echocardiogram (Gold standard)
Definitive diagnostic test
Single trunk arising from the left ventricle and the right
ventricle
(D) MANAGEMENT
(1) Surgical management
Absolutely required within the first couple weeks of life
There’s minimal cyanosis because we do have some
mixing
o Unlike in transposition of the great arteries where
there’s complete cyanosis due to there’s only
deoxygenated blood
(2) Medical management
What we can do in the interim until we get surgical
management
Because we’re overloading the left ventricle with a lot of
blood flow from the pulmonary circulation
o We can try our best to reduce a lot of actual
pulmonary edema and actual congestion in the
lung by giving these babies
(i) Positive pressure ventilation
▪ To push some of the fluid out
(ii) Diuretics
▪ To remove some of the pulmonary edema
(iii) Inotropes
▪ To squeeze blood out of the heart
(iv) Give them drugs that actually relax the aorta
and some of the distal vessels
▪ So that reduces afterload and ensures that we
push a lot of blood out into this single trunk
Cyanotic Congenital Heart Defects
 V) TOTAL ANOMALOUS PULMONARY VENOUS RETURN
Normally pulmonary veins are supposed to empty into left atrium
o But in this situation, the pulmonary veins are emptied into right atrium via connecting veins
(A) STRUCTURE
Imagine we’re looking behind the heart
o We have right and left pulmonary veins
▪ And they come together and empty into left atrium
normally
▪ In this situation, they don’t
They have a little structure called
o Supracardiac total anomalous pulmonary venous
return
o Cardiac total anomalous pulmonary venous return
o Infracardiac total anomalous pulmonary venous
return
To get the basic concept, we’ll be discussing supracardiac
and cardiac only
(1) Supracardiac total anomalous pulmonary venous
return
We have superior vena cava empties into the right atrium
o What happens is that the pulmonary veins are
supposed to empty into the left atrium but they don’t
There’s a connecting vein that connects the
pulmonary veins into the superior vena cava → right
atrium
All oxygenated blood is going to the right atrium
o So, right atrium is getting all the oxygenated
blood
(2) Cardiac total anomalous pulmonary venous return
Connects right to the heart → right atrium
o Sometimes we can have these connecting veins
which empties blood directly into the right atrium
In both of these situations
The pulmonary veins which are carrying oxygenated
bloods supposed to go the left atrium
o It’s going right into the right atrium via connecting vein
▪ Superior vena cava via connecting vein
▪ Or directly into the right atrium via connection vein
Emptying oxygenated blood into the right side of the
heart
o Which is supposed to be primarily deoxygenated
blood
Cyanotic Congenital Heart Defects
(B) CLINICAL PICTURES
(1) Cyanotic
We have all the blood on the right ventricle
o All having oxygenated and deoxygenated blood
o We literally getting no oxygenated blood flow
coming into the left atrium
All oxygenated blood is going to the right ventricle
→ Pumped into pulmonary arteries → lungs to be able to
get more oxygenated
They’re supposed to come back via pulmonary veins and
empty the left atrium
o But they’re not
The condition is absolutely terrible
o The patient will die because literally pushing no blood
via the aorta
No oxygenated blood getting into the left atrium
(2) Respiratory distress
Because we’re pumping tons of blood via pulmonary
arteries and then back into the pulmonary veins
o The pulmonary veins as they try empty into the right
atrium
They kind of develop a pulmonary vein obstruction
Imagine all the blood that’s trying to be able to get into the
actual right atrium
It kinds of accumulates and backs up into the pulmonary
vessels → increase pulmonary pressure
o Fluid backs up into the pulmonary veins → can
cause a lot of pulmonary edema
o So, it can cause respiratory distress
▪ Tachypnea
▪ Dyspnea
CARDIOVASCULAR PATHOLOGY: Note #27. 7 of 14
Summary (C) DIAGNOSTIC TESTS
Cyanosis (1) Chest X-Ray
o All oxygenated blood that’s supposed to be going from
the pulmonary veins into the left atrium is not Increased pulmonary blood flow → increased pulmonary
▪ It’s all going into the right atrium vasculature
o No oxygenated blood is going into the left atrium → left Snowman’s sign
ventricle → aorta → systemic circulation Remember
Respiratory distress Tetralogy of Fallot
o We have the blood in the pulmonary vein kind of stasis o Boot-shaped
▪ Having difficult time going via connecting vein Transposition of the great arteries
▪ Blood backs up into lungs → pulmonary edema o Egg-on-a-string
• Respiratory stress
o Dyspnea
o Tachypnea (2) EKG
o Hypoxemia We’re actually overloading the right side of the heart
o Causing it to have to deal with more volume, more
(3) Auscultation → Systolic ejection murmur + split S2
volume
+ diastolic rumble ▪ Gets hypertrophy
Remember o Develop right ventricular hypertrophy
S1 sound ▪ Due to more blood going into right atrium → right
o Closure of the tricuspid valve and mitral valve atrial enlargement
S2 sound (3) Echocardiogram (Gold standard)
o Closure of aortic valve (A2) and pulmonary valve (P2)
Definitive diagnostic test
Right atrial enlargement
(i) Systolic ejection murmur Obstructed pulmonary veins
Because a huge amount of blood is going into the right (D) MANAGEMENT
side of the heart
o A ton of blood is being pushed into the pulmonary Surgical management
artery → causes systolic ejection murmur Surgically resect and reconnect these different structures
Particularly going through the pulmonary artery o From the pulmonary vein to the left atrium
Emergent
(ii) Split S2 o Has to happen right after birth
Because it’s going to get a longer time for the actual right
ventricle to contract and eject blood out of the right side
of the heart into the pulmonary artery
o Longer time for the pulmonary valve to close → so
pulmonary valve sound will come later

(iii) Diastolic rumble

Because we have a lot of blood that’s shunting and going
into the right atrium
o All of the blood is moving from the right atrium into the
right ventricle across tricuspid valve
o If a lot of blood is moving across the tricuspid valve
▪ Causes diastolic rumble

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 VI) TRICUSPID ATRESIA

Findings
o Tricuspid atresia is basically having an abnormal or not completely developed or absence of tricuspid valve
o Hypoplastic right ventricle
o VSD
o ASD
(A) AGE OF PRESENTATION
Prenatal diagnosis
o Please don’t forget this
Often times when the baby is born
o It’s usually going to be super evident whenever they have this severe cyanosis
(B) CLINICAL PICTURES
(1) Cyanosis Summary
Cyanosis present because right atrium can’t empty blood to
We’re getting literally no blood getting from the right the right ventricle
atrium to the right ventricle If they don’t have ASD, they will die
Therefore, no blood is getting from the right ventricle to If they do have, they will pump the blood from the right
the pulmonary artery atrium → left atrium
o This is disastrous o Pushing deoxygenated blood into the oxygenated
▪ So, if these patients don’t have ASD, they will die chamber of the heart
very quickly ▪ Pushing that out into the systemic circulation
If we need to get some kind of pulmonary blood flow
So hopefully they have ASD
occurring
o If they don’t have, we have to make one
o We need VSD for the blood from the left ventricle to
If they have ASD (most of them do have) pump across the VSD into the right side of the heart
o The blood will shunt from the right atrium to the left
atrium → down into left ventricle → pump blood into
(2) Auscultation
aorta
Holosystolic murmur at the left lower sternal border
But we need some blood to be able to go into the
o Due to VSD
pulmonary trunk
o Some blood will shunt over into the pulmonary trunk Single S2
The mixing process taking place
o Pushing deoxygenated blood from the right atrium →
left atrium → aorta → a mixture of blood
▪ Deoxygenated blood coming from the right
atrium to the left atrium
▪ Oxygenated blood that’s in the left side of the
heart
Now we need VSD hopefully to be able to pump blood
from the left ventricle into the pulmonary trunk
o Then from the pulmonary trunk into the actual
pulmonary arteries
o We need some pulmonary blood flow so that we can
oxygenate the blood
→ Send the blood back to the left side of the heart
We can’t get blood from the right atrium to the right
ventricle because of the atretic tricuspid valve

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 (C) DIAGNOSTIC TESTS (D) MANAGEMENT
(1) Chest X-Ray (1) Acute management

(i) Decreased pulmonary vasculature Remember if they don’t have ASD

o They will die because they have no way to mix the
Remember we’re not getting a lot of blood flow through blood and get some blood flow to the pulmonary
the pulmonary vessels circulation
o Because we aren’t able to get blood flow from the
So if they don’t have one, we will make one
right atrium → right ventricle → pulmonary
o If it’s small one, we’ll make it bigger
▪ Because of the atretic tricuspid valve
ASD allows for blood to go from the right atrium into the
So if we have ASD
left atrium because we can’t get it down into the right
o We can pump blood from right atrium → left atrium →
ventricle
left ventricle
o So now we get blood flow trying to get through the
o Then some blood if they have VSD, can pump over
pulmonary circulation
into the pulmonary artery
o If we don’t get any blood flow to the pulmonary
▪ But we’re not getting a lot of blood flow
circulation
through the pulmonary vascular
▪ We can’t oxygenate the blood
▪ So, they’ll have decreased pulmonary vasculature
(2) EKG (i) Balloon atrial septostomy
Might be somewhat helpful but not super helpful We make ASD with balloon atrial septostomy
May see left axis deviation o ASD allows us to shunt blood from the right atrium
Right atrial enlargement into the left atrium
▪ Because we can’t get it down into the right
(3) Echocardiogram (Gold standard) ventricle
Definitive diagnostic test ▪ So we need a way to be able to get it down into
Can show the right ventricle and up the pulmonary artery
o VSD From there, we need VSD to pump the blood through the
o ASD pulmonary arteries
o Hypoplastic right ventricle
o Atretic tricuspid valve (ii) Keep PDA open
We’re trying to get some kind of pulmonary flow
o If we don’t get any pulmonary flow → can’t oxygenate
the blood and bring the oxygenated blood to the left
side of the heart
So if they have the PDA open, we’ll keep it open
o Because it can continue to shunt blood into the
pulmonary artery
▪ To maintain good pulmonary blood flow
o So that we can get blood flow through the pulmonary
vessels oxygenate that blood
→ Send it back to the left side of the heart
→ Pump out to the systemic circulation
We keep the PDA open by giving prostaglandin E1
infusion

(iii) Cardiorespiratory support

Give them as much O2 as possible
Give inotropes to squeeze blood out of the left side of
the heart
(2) Surgical management
Need to be surgically treated as soon as possible
Surgical Fontan procedure

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 VII) EBSTEIN ANOMALY

“Ooowhoa!! That is the biggest heart I’ve ever seen!”

In this condition,
o They have a huge right atrium
o They also have ASD
o They also have abnormal tricuspid valve
▪ Low-hanging tricuspid
• Super inferiorly displaced

(A) RISK FACTORS

Maternal lithium
o Remember when we talked about tetralogy of Fallot; transposition of great arteries; truncus arteriosus
▪ It was DiGeorge syndrome
o Please don’t forget this
(B) CLINICAL PRESENTATION
Tend to be a little bit later; adolescent or sometimes even
into adulthood (3) Auscultation → Hollow systolic murmur +
summation gallop
(1) Cyanosis
These inferiorly displaced tricuspid valve actually kinds of (i) Hollow systolic murmur
block blood flow ▪ At left lower sternal border
o Makes it difficult for blood to go into pulmonary artery • Not due to VSD but due to tricuspid
o Also these tricuspid valves are super low-hanging and regurgitation
super displaced far away from one another o Due to the inferiorly displaced and
▪ It’s super easy to pump blood from the right furtherly displaced away from one another
ventricle back to the right atrium
When this happens, they have ASD and then starts (ii) Summation gallop
shunting blood from the right atrium into the left atrium S1 sound
o Then from the left atrium, it will go down into left o Closure of tricuspid and mitral valve
ventricle → pump into systemic circulation
S2 sound
o We’re pumping a mixture of oxygenated and
o Closure of aortic and then pulmonary valve
deoxygenated blood
▪ We have the cyanosis mixing of the blood S3 sound
o Due to a lot of blood flow moving into ventricles during
(2) Left heart failure present with pulmonary edema diastole → rapid ventricular filling
As we pump a lot blood back into right atrium → left S4 sound
atrium → left ventricle o There’s atrial contraction pushes blood down into
o We’re overloading the left side of the heart the left ventricle
o Left ventricles are overloaded → left atrial pressure is
super high
▪ So we can have left heart failure which can
present with pulmonary edema

Cyanotic Congenital Heart Defects CARDIOVASCULAR PATHOLOGY: Note #27. 11 of 14

 (C) DIAGNOSTIC TESTS
(1) Chest X-Ray
Not getting very much blood going into the pulmonary
artery → decreased pulmonary vasculature
o Because we have the inferiorly displaced tricuspid
valves kind of obstruct or block off the pulmonary
outflow tract
If we look at the right atrial border on the heart
o The heart shadow is going to be huge
(2) EKG
Wolff-Parkinson’s White Syndrome Type B
o Worth remembering
o There may be an abnormality where they have an
accessory bundle between the right atrium and right
ventricle
▪ May be a particular EKG finding that
differentiates this from another types
(3) Echocardiogram (Gold standard)
Definitive diagnostic test
We can see
o Big right atrium
o ASD
o Low hanging / inferiorly displaced tricuspid valve
12 of 14 CARDIOVASCULAR PATHOLOGY: Note #27.
(D) MANAGEMENT
(1) Acute management
Because we’re getting very little pulmonary blood flow
o Because of the inferiorly displaced tricuspid valve
o We have to get some kind of pulmonary blood flow
going to the pulmonary artery
▪ So we can at least oxygenate the blood
▪ And send the oxygenated blood to the left atrium
(i) Keep PDA open
Remember we have ASD
o Pumping blood from the right ventricle to the right
atrium → left atrium → left ventricle → pump a lot of
blood into the aorta
But if we notice the inferiorly displaced tricuspid valve
o Really makes it hard to get any blood into the actual
pulmonary artery
o We want to maintain a decent pulmonary blood
flow
▪ So we can oxygenate the blood if we keep PDA
open
PDA will shunt blood into the pulmonary artery
→ More pulmonary blood flow
→ Oxygenate the blood
→ Send them back to the left side of the heart
o We use drug called prostaglandin E1
(ii) Pulmonary vasodilators
Because the left atrial pressure is super high
o Because we’re pushing all the blood from the right
atrium to the left atrium
→ Left atrium is overfilled
o It’s going to start dilating
Pressure inside the left atrium kind of rises → backs up
into the pulmonary circulation → increase pulmonary
vascular resistance
o We can give certain type of pulmonary vasodilators
to relax these vessels
▪ Making it a little bit easier to pump blood flow into
the pulmonary artery
Inhaled pulmonary vasodilators
o Nitric oxide
o Milrinone
(2) Surgical management
Palliative surgery in this patient in severe cases
Cyanotic Congenital Heart Defects
 VIII) HYPOPLASTIC LEFT HEART SYNDROME

Basically defined as a patient having a hypoplastic, very malformed, maldeveloped left ventricle, even left ventricular
outflow tract going into the aorta
o Also may have some abnormalities of their mitral valve and aortic valve (e.g., missing one of the leaflets)
In short, hypoplastic
o Hypoplastic left ventricle
o Hypoplastic left ventricular outflow tract
o Abnormality of the mitral and aortic valve

(A) AGE OF PRESENTATION

Typically delayed, sometimes up to about a few weeks after birth when the ductus arteriosus closes
o This can be a problematic tissue

(B) CLINICAL PICTURE

We know they have
o Hypoplastic left ventricle
o Hypoplastic left ventricular outflow tract
o Abnormalities of the aortic valve and mitral valve
Clinical presentation appears sometimes a few weeks after ductus arteriosus closes
(1) Cyanosis
We can’t get blood out of the left ventricle into the aorta
o Because of the very decreased functioning left
ventricle or left ventricular outflow tract
▪ The blood will back up into the left atrium
▪ The left atrium will then pump blood into right
atrium via ASD
From right atrium → down into right ventricle
o The blood will be pumped into the pulmonary artery
→ pump into the PDA
o So what happens is, we get mixing of blood
Left ventricle can’t pump blood out into aorta → we
get no systemic arterial blood flow
o And the baby will go into cardiogenic shock
How to compensate?
o The blood will move via ASD from the left atrium into
the right atrium
o Now we have oxygenated and deoxygenated
blood in the right atrium and right ventricle
▪ Right ventricle will pump these blood into the
pulmonary artery
o If the PDA is open
→ They will pump mixture of deoxygenated and
oxygenated blood into the aorta
(2) Cardiogenic shock
Left ventricle is hypoplastic and not very good at being
able to contract and get blood out
o Because of that, left ventricular cardiac output
drops significantly
▪ Amount of blood we can pump out of the heart
within one minute
o Less blood flow moving through the left ventricle to
aorta
→ Drops the blood pressure (hypotension)
→ Putting the baby at risk of cardiogenic shock
Summary
Cyanosis because we can’t get blood out of their left
ventricle
o So they use ASD to pump oxygenated blood via left
atrium → right atrium → right ventricle → pulmonary
artery
o If the PDA is open
▪ It will pump the blood from the actual pulmonary
artery into the aorta
▪ Pushing a mixture of blood (deoxygenated and
oxygenated) into the aorta
Left ventricle can’t pump blood out of the heart → cardiac
output drops → hypotension → cardiogenic shock

Cyanotic Congenital Heart Defects CARDIOVASCULAR PATHOLOGY: Note #27. 13 of 14

(3) Auscultation (D) MANAGEMENT
No specific murmur (1) Acute management
May only hear single S2
o Because no blood is getting out through the aorta If we don’t have PDA
very well o Remember left ventricle can’t get blood out
o Doesn’t really cause a true complete aortic closure → Uses ASD to pump over into the right atrium
sound → Right ventricle → pulmonary blood flow
▪ So A2 component of S2 we don’t really hear that all ▪ We’re getting very little blood into aorta
▪ All they really have is pulmonary component (P2) We need blood in aorta to deliver O2
o Use PDA to shunt blood into aorta
▪ So that we can actually deliver some blood
(C) DIAGNOSTIC TESTS → Baby doesn’t die from cardiogenic shock even
though the blood is mixed blood
(1) Chest X-Ray
• At least there’s some blood flow
(i) Increased pulmonary vasculature Keep PDA open by using prostaglandin E1
Left ventricle is not pumping blood out into the aorta (2) Surgical management
o We’re shunting it over into the right side of the
heart via ASD Palliative surgery
o So, we’re pushing a lot of blood into the Sometimes this doesn’t even work
pulmonary artery o The baby will actually need a heart transplant

So, if we look at the pulmonary blood flow on their chest

X-Ray IX) REVIEW QUESTIONS
o It will be increased → increased pulmonary
vasculature
1) DiGeorge is the risk factor of these cyanotic
(2) EKG congenital heart diseases, EXCEPT
Potential right axis deviation a) Tetralogy of Fallot
o Because we’re pushing a lot of blood into the right b) Transposition of the great arteries
side of the heart c) Tricuspid atresia
o So it undergoes hypertrophy → we may have a little d) Truncus arteriosus
bit of enlargement of the right atrium
(3) Echocardiogram (Gold standard) 2) Baby squat may alleviate the “tet spell” in patient
with tetralogy of Fallot
Definitive diagnostic test a) True
Shows b) False
o Hypoplastic left ventricle
o Hypoplastic left ventricular outflow tract
3) Boot-shaped heart is pathognomic for transposition
o Mitral valve and aortic valve abnormality
of the great arteries
o ASD
a) True
b) False

4) What are the auscultation findings that we can get

from total anomalous pulmonary venous return,
EXCEPT?
a) Systolic ejection murmur
b) Split S2
c) Crescendo murmur
d) Diastolic rumble

5) Patient with tricuspid atresia will have chest X-Ray

reveal increased pulmonary vasculature
a) True
b) False

6) What are the characteristics of Ebstein abnormality,

EXCEPT?
a) Huge right atrium
b) ASD
c) Abnormal mitral valve
d) Wolff-Parkinson’s White syndrome type B

7) What is the acute management for hypoplastic left

heart syndrome?
a) Balloon atrial septostomy
b) Dilators
c) Diuretics
d) Prostagland

14 of 14 CARDIOVASCULAR PATHOLOGY: Note #27. Cyanotic Congenital Heart Defects