Last edited: 5/31/2022

ACYANOTIC CONGENITAL HEART DEFECTS

Acyanotic Congenital Heart Defects Medical Editors: Camille, Sarah, Ana

OUTLINE
I) INTRODUCTION III) OBSTRUCTION VIII) DIAGNOSIS
II) LEFT-TO-RIGHT SHUNTS (A) COARCTATION OF THE AORTA IX) TREATMENT
(A) ATRIAL SEPTAL DEFECT (ASD) X) APPENDEX
(B) VENTRICULAR SEPTAL DEFECT (VSD)
IV) CAUSES
V) PATHOPHYSIOLOGY XI) REVIEW
(C) PATENT DUCTUS ARTERIOSUS (PDA)
(D) ENDOCARDIAL CUSHION DEFECT / ATRIOVENTRICULAR SEPTAL VI) CLINICAL FEATURES XII) REFERENCES
DEFECT
VII) LEFT TO RIGHT SHUNTS AND THEIR
SPECIFIC FINDINGS

I) INTRODUCTION

Congenital Heart Defects (CHD)

refer to abnormalities of the heart or great vessels that are present at birth [Kumar et al, 2021]
o They may be classified based on whether they are cyanotic or acyanotic
o Cyanosis – bluish-purple discoloration of the mucus membranes and/or skin, which may indicate inadequate oxygenation
Acyanotic Congenital Heart Defects do not cause cyanosis
Congenital heart defects may also be classified according to the major functional abnormalities they cause:
o Left-to-right shunt
o Right-to-left-shunt
o Obstruction
Generally, left-to-right shunts and some obstructive defects cause acyanotic CHDs

II) LEFT-TO-RIGHT SHUNTS

Most common type of Congenital Heart Defect (CHD)
A shunt is an abnormal communication between chambers or blood vessels [Kumar et al, 2021]
Generally, these permit blood flow from a high-pressure system (systemic circulation) to a low-pressure system (pulmonary circulation)
o Oxygenated blood from the systemic circulation is shunted towards the pulmonary circulation, which contains deoxygenated blood
o These increase pulmonary blood flow and are not associated with cyanosis
Cyanosis only occurs when deoxygenated blood is shunted to the left side of the heart, where it is pumped into the systemic
circulation (right-to-left shunts)

(A) ATRIAL SEPTAL DEFECT (ASD) (C) PATENT DUCTUS ARTERIOSUS (PDA)
Atrial septal defects are abnormal, fixed openings in the A “patent” ductus arteriosus connects the pulmonary
atrial septum caused by incomplete tissue formation, artery and the aorta, allowing blood to shunt from the
allowing blood to shunt from the left atrium to the right former to the latter
atrium [Kumar et al, 2021] Oxygenated blood from the aorta is shunted towards the
Oxygenated blood is pushed to the right side of the heart pulmonary aorta
(pulmonary circulation), before entering the systemic o Increases pulmonary blood flow
circulation o Does not cause cyanosis
o It does not cause cyanosis
(D) ENDOCARDIAL CUSHION DEFECT /
(B) VENTRICULAR SEPTAL DEFECT (VSD) ATRIOVENTRICULAR SEPTAL DEFECT
Ventricular septal defects are incomplete closures of the This congenital heart defect involves:
ventricular septum, allowing blood to shunt from the left o Atrial septal defect
ventricle to the right ventricle [Kumar et al, 2021] o Ventricular septal defect
Like with ASDs, oxygenated blood is shunted towards the o Missing leaflets on the miitral and tricuspid valves
right side of the heart (pulmonary circulation), before Due to defects in both the atrial and ventricular septa,
entering the systemic circulation oxygenated blood is pushed towards the right side
o It does not cause cyanosis

Acyanotic Congenital Heart Defects CARDIOVASCULAR PATHOLOGY: Note #26. 1 of 13

 III) OBSTRUCTION
Obstructive CHD occurs when there is abnormal
narrowing of chambers, valves, or blood vessels
(A) COARCTATION OF THE AORTA
Coarctation of the aorta involves a narrowing or
constriction along the aorta, restricting blood flow distal to
the constriction
When the narrowing is located after/distal to the aortic
branches supplying the head and upper extremities, there
is differential blood flow
o Higher blood flow and pressure in the upper
extremities
o Lower blood flow and pressure in the lower
extremities
(1) Primum ASD
(2) Secundum ASD
(3) Patent Foramen Ovale (PFO)
V) PATHOPHYSIOLOGY
(A) ATRIAL SEPTAL DEFECT
The interatrial septum develops from the septum primum
and septum secundum
The septum primum is a membranous ingrowth that sits
posteriorly between the right and left atria and partially
separates them [Kumar et al, 2021]
o The ostium primum is an anterior opening allowing
blood to shunt from the left to right atria
o The ostium secundum is a posterior opening
The septum secundum develops subsequently to grow
over the ostium secundum [Kumar et al, 2021]
o This leaves a small channel called the foramen ovale
The foramen ovale/ostium secundum permits continued
right-to-left shunting of blood during intrauterine
development [Kumar et al, 2021]
When a baby is born, the foramen ovale normally closes
off and turns into the fossa ovalis
Rare type of ASD
If the septum primum does not come all the way down, it
leaves a defect through which blood can shunt
Left-to-right shunt
If the septum secundum doesn’t come all the way down
to cover the ostium secundum, it leaves a defect
Left-to-right shunt
PFO is completely different from ASD
This results from failure of the foramen ovale to close at
birth
Right-to-left shunt
o The unsealed flap (PFO) can open if right-sided
pressures become elevated
o It can cause paradoxical embolism, wherein a clot in
the RA is shunted through the PFO and into the LA

IV) CAUSES
Down syndrome / Trisomy 21
o Associated with ASD, VSD, ECD, and PDA
Turner Syndrome
o Absent Y chromosome
o Clinical features: webbed neck, short stature
o Associated with coarctation of the aorta
Fetal Alcohol Syndrome
o Associated with ASD and PDA
TORCH Infections
o Intrauterine rubella infection is associated with VSD
and PDA
Maternal Diabetes
o increases risk for VSD

2 of 13 CARDIOVASCULAR PATHOLOGY: Note #26. Acyanotic Congenital Heart Defects

 (B) VENTRICULAR SEPTAL DEFECT
From the apex of the ventricles, the muscular component
grows upward, and the membranous component grows
downward → forming the interventricular septum
(1) Membranous VSD
More common
Occur in the region of the membranous interventricular
septum
(2) Muscular VSD
Muscular VSD
Occur within the muscular septum
(C) PATENT DUCTUS ARTERIOUSUS
The ductus arteriosus arises from the pulmonary artery
and joins the aorta distal to the origin of the left
subclavian artery [Kumar et al, 2021]
o In utero, the ductus arteriosus permits blood flow from
the pulmonary artery to the aorta, bypassing the
unoxygenated lungs [Kumar et al, 2021]
o Normally, this closes/regresses at birth, becoming the
ligamentum arteriosum
In some situations, it stays open/patent, causing a
congenital heart defect
Acyanotic Congenital Heart Defects
(D) ENDOCARDIAL CUSION DEFECT
The endocardial cushions unite to form the septum
intermedium
The endocardial cushions are involved in the
development of the:
o Interventricular septum
o Interatrial septum
o Mitral and tricuspid valves
Aside from blood shunting, there can also be
reflux/regurgitation due to the dysfunctional mitral and
tricuspid valves
(E) COARCTATION OF THE AORTA
There is formation of constriction rings
There are various clinical manifestations, depending on
the location of these constrictions with respect to the
ductus arteriosus / ligamentum arteriosum
(1) Preductal Coarctation Aorta
Infantile type
The constriction is located before or proximal to the
ductus arteriosus
o Blood pressure is decreased distal to the constriction
When blood pressure in the pulmonary circuit is higher,
blood can be shunted from the pulmonary artery via the
patent ductus arteriosus to the aorta
o This causes cyanosis of the lower extremities
(2) Postductal Coarctation of the Aorta
Adult type
The constriction is located after or distal to the ductus
arteriosus
o This may cause differential blood pressure between
upper and lower extremities
CARDIOVASCULAR PATHOLOGY: Note #26. 3 of 13
 VI) CLINICAL FEATURES
(A) PULMONARY BLOOD PRESSURE (B) ↓ LV CARDIAC OUTPUT
When there is a left to right shunt, a lot of blood enters As the blood is shunting to the right side of the heart, this
the right side of the heart and there is an ↑ in blood flow can cause left heart failure as there is:
in the pulmonary circulation. ▪ ↓ Filling of the LV
o This ↑↑↑ the pulmonary blood pressure. ▪ ↓ Blood being pushed out of the LV.
• Therefore, ↓↓ total cardiac output
Increased Pulmonary Pressure results in: o ↓↓↓ Blood Pressure.
Increases leaking of fluid from pulmonary capillaries
leading to edema.
Signs:
o This can alter the gas exchange process leading to As there is ↓ BP, there is ↓ perfusion of tissues, resulting in:
dyspnea and tachypnea o Pale skin
Increased congestion of the lungs makes it difficult to o Cool extremities
clear infections in the lungs. o Sympathetic reflexes actviation
o This increases the risk of bacteria thriving causing
recurrent bronchopulmonary infections.
As the right side of the heart is overloaded with blood and
starts to fail the heart, it can back flow into the liver.

• Poor feeding
• Failure to thrive
o This is because they do not have enough
energy to feed.

Figure 1. Increased Pulmonary Pressure caused by a Left to

Right Shunt leads to hepatomegaly, bronchopulmonary
infections and pulmonary edema

Signs:
Hepatomegaly
Sometimes swollen eyes
In infants, they do not present with ankle/pedal edema,
jugular venous distention.

Table 1.Increased Pulmonary Blood Pressure results in various Figure 2. Left to Right Shunts causes decreases LV CO and
symptoms leads to decreased BP and Sympathetic Activation

Mechanism Result

o Increases leaking o dyspnea and

of fluid tachypnea

o recurrent
o Increased
bronchopulmonary
congestion
infections

o Back flow into the

o Hepatomegaly
liver

4 of 13 CARDIOVASCULAR PATHOLOGY: Note #26. Acyanotic Congenital Heart Defects

 (C) EISENMENGER SYNDROME
This is the worst-case scenario for infants. It is seen in severe VSD, ECD and severe PDAs.

Mechanism of Action: Signs:

Constant filling and overload of the right side of the heart Blue-ish discoloration of the skin, mucosa, sclera, etc.
causes the walls of the right heart to thicken and become Clubbing of fingers
stronger→ right ventricular hypertrophy. Low oxygen saturation (checked with pulse oximeter)
Due to the shunting, the pulmonary vessels are filled with
blood and are under constant high pressure.
After a while they are unable to tolerate the high
pressure, they respond by vasoconstriction and
thickening of the walls of the vessels to protect
themselves.
o This leads to ↓ in lumen diameter which ↑↑↑
pulmonary vascular resistance (PVR).
▪ ↑↑↑ PVR leads to RV to work even harder to pump
blood.
Normally, left sided pressure is higher than the right sided
pressure. However, in this case, if the PVR is increased
for a long time, the right sided pressure starts to
overcome the left sided pressure.
o The shunt is now reversed.

Figure 4. Signs of Eisenmenger Syndrome

Overproduction of erythropoietin (EPO) in the kidneys

When right to left shunt turns into left to right shunt, this is
called Eissenmenger syndrome.
causing ↑↑ production of RBCs in the bone marrow.
o The kidneys interpret the ↑↑ of deoxygenated blood
as ↓ RBC, which is why it is stimulated to release
EPO. This mechanism works in hopes of increasing
perfusion of organs.
▪ However, this is not the issue, the problem is the
oxygen being mixed in the chambers of the heart.
▪ One of the findings is polycythemia (↑↑ of RBCs).

Figure 3. Eisenmenger Syndrome is when the left to right shunt

is reversed due to increased PVR

Figure 5. The kidney increases EPO production in order to

compensate for the decreased deoxygenated blood, this results
in polycythemia

Acyanotic Congenital Heart Defects CARDIOVASCULAR PATHOLOGY: Note #26. 5 of 13

 VII) LEFT TO RIGHT SHUNTS AND THEIR SPECIFIC FINDINGS
(A) ATRIAL SEPTAL DEFECT (B) VENTRICULAR SEPTAL DEFECT
In ASD, blood is being pushed from the LA to the RA (1) Holosystolic Murmur
therefore the RV is being filled more.
o Therefore, more blood is being pumped to the The murmur can be heard the entire period of systole.
pulmonary circulation. o This is because there is a lot of blood flowing from the
LV into the RV
Normal findings in auscultation: ▪ When the LV contracts → turbulence of blood
flow creates the murmur.
S1 sound → closure of the tricuspid and mitral valve.
S2 sound → closure of aortic and pulmonary valves.
REMEMBER:
In ASD, there are 3 particular findings: The smaller the defect, the louder the murmur
o Small diameter → more velocity → more turbulence
(1) Systolic Ejection Murmur → louder murmur.
This is caused by more blood being pumped to the
pulmonary vasculature from the RV. (2) Loud S2
o The high velocity of blood flow through the
pulmonary vessels causes a turbulence of blood flow Since there is a lot of blood being pushed into the RV and
thus precipitating a murmur. pulmonary arteries

(2) Fixed split S2

Normally, the RV takes a long time to pump blood but
now it has more blood than usual, therefore it will take
even longer now as it is filled with more blood. (3) Diastolic rumble
o Therefore, it takes longer for the valve to close,
splitting the S2. Blood flows from the LV into the RV
Then blood is pushed into the pulmonary arteries →
“Fixed” means it does not change during inspiration or
pulmonary veins.
expiration, it stays the same.
o From the pulmonary veins they empty into the LA,
(3) Diastolic rumble therefore there is a large amount of blood flowing
through the mitral valve.
As lots of blood is going through to the RA, there is more
▪ ↑ ↑ ↑ blood flowing through the mitral valve in
blood flowing to the tricuspid valve into the RV, this
diastole causes the diastolic rumble at the apex.
causes a rumbling sound.
o This is heard in the left lower sternal border.

Figure 6. ASD causes 3 different sounds in auscultation

Complication of ASD:
If someone has a DVT, the thrombosis can go up the IVC.

• This can enter the systemic circulation and

reach the brain causing strokes

Figure 8. In VSD, there are 3 different sounds in auscultation

Figure 7. Patients with DVT are at risk of strokes

6 of 13 CARDIOVASCULAR PATHOLOGY: Note #26. Acyanotic Congenital Heart Defects

 (C) PATENT DUCTUS ARTERIOSUS
(1) Continuous “machine-like” murmur
Aortic pressure is always higher than pulmonary pressure,
and since pressure flows from high to low, blood flows from
the Aorta to the Pulmonary arteries, and that is why the
murmur is continuous.
Figure 9: Continuous "machine-like" murmur in P.D.A.
(2) Wide pulse pressure
The difference between SBP and DBP is large or wide.
Normally:
In P.D.A. blood shunts from the Aorta to the Pulmonary
arteries, during diastole the DBP drops really low while
the SBP is high, and this causes the wide difference.
Figure 10: Wide pulse pressure in PDA.
Acyanotic Congenital Heart Defects
(D) ENDOCARDIAL CUSHION DEFECT
Compiles all the findings from ASD. and VSD.
(1) Holosystolic murmur (at the LLSB)
Because of the V.S.D.
(2) Holosystolic murmur (at the apex)
Caused by Mitral Regurgitation
o Since these patients do not have complete valves,
one leaflet (anterior leaflet) of the mitral valve is
missing, therefore blood flows easily back into the
atrium.
(3) Systolic ejection murmur
Blood is being pushed:
o ASD: LA → RA → RV
o VSD: LV → RV
Then from the RV → pulmonary arteries
o A lot of blood is being pumped into the pulmonary
circulation, this high velocity causes turbulence of
blood flow and then causes a murmur.
Pushing a lot of blood into the right heart results
ultimately in a systolic ejection murmur
Figure 11: Systolic murmurs in E.C.D.
(4) Fixed split S2
Caused by A.S.D.
o Blood flows from Left heart to the right heart and
causes the right side of the heart to overflow,
therefore it takes more time to contract and push all
the blood into the pulmonary arteries, which causes
delayed closure of the pulmonic valve, this delay
leads to a split in the second heart sound (S2) and
the P2 comes later than the A2.
o Since this split does not change during inspiration or
expiration it is fixed.
Figure 12: Fixed Split S2 in ECD. (caused by ASD.)
CARDIOVASCULAR PATHOLOGY: Note #26. 7 of 13
 (E) COARCTATION OF AORTA
There are 2 types defined by the place of the constriction ring in relation to the PDA or Ligamentum arteriosum
(1) Preductal (Infantile type)
Constriction ring is before the PDA/ligamentum
arteriosum.
1st segment (before the constriction ring)
o LV → Aorta → oxygenated blood goes to the Head
and neck and upper extremities
o Pressure is really high in this segment + more blood
to those parts
2nd segment (after the constriction ring) + PDA.
o Blood goes to the lower extremities
o Pressure in this segment is low, and in result: it would
be easier for blood to flow from the pulmonary artery
to the Aorta via the PDA.
▪ This results in more blood flow to the lower
extremities. However, this blood is mixed (from
the aorta and also the pulmonary arteries) which
is less oxygenated, this leads to differential
cyanosis
(i) Differential cyanosis
▪ Where the upper limb and head and neck are
receiving oxygenated blood, and lower limb and
torso are receiving mixed blood, which makes
them cyanotic (bluish discoloration of skin)
(ii) Systolic ejection murmur
▪ Since the diameter of the constriction ring is small
→ high velocity of blood flow → turbulence →
systolic ejection murmur heard at the left posterior
hemithorax
Figure 13: Symptoms of preductal coarctation of the Aorta
(Differential cyanosis and Systolic ejection murmur)
8 of 13 CARDIOVASCULAR PATHOLOGY: Note #26.
(2) Post-ductal (Adult type)
Constriction ring is after the PDA/ligamentum arteriosum
1st segment (before the constriction ring) + P.D.A.
o Higher blood pressure + high perfusion to the upper
body
Resulting signs and symptoms:
▪ Headaches
▪ Tinnitus
▪ Ballooning of brain vessels (Berry aneurysms
which have a risk of rupturing and causing
intracranial hemorrhage)
▪ Left ventricular hypertrophy
• Because it is harder for the LV to pump blood
into the high-pressure aorta
▪ High BP (Hypertension)
▪ Left heart failure (develops with time as the LV
fails to pump blood)
2nd segment (after the constriction ring)
o Very low pressure and low profusion to the lower
body, this is because less blood flows through the
ring to the lower body.
Resulting signs and symptoms:
▪ Pain in lower extremities especially on exertion
which is called “claudication”
▪ ↓ pulses and pale and cold extremities
▪ Brachio-femoral delay
(Normally, femoral pulse is felt before brachial/radial pulse,
but here it is felt later “delay”. This is because of the high
BP and pulse in the upper body and the low BP and pulse
in the lower body)
Figure 14: Symptoms of post-ductal coarctation of the Aorta in
the upper and lower body
Acyanotic Congenital Heart Defects
 VIII) DIAGNOSIS

(A) A.S.D. (C) P.D.A.

(1) ECG
Because of the overload from left atrium to right atrium
and the extra blood flow going to the right ventricle
(1) ECG

(2) CXR (2) CXR

Because all the blood flowing to the pulmonary circulation Because all the blood flowing to the pulmonary circulation

(3) Echocardiogram
(3) Echocardiogram

(B) V.S.D. (D) E.C.D.

(1) ECG (1) ECG

Because of the extra effort the left ventricle has to do in Due to a potential problem within the AV node
order to send blood through the aorta
A large amount of blood flowing from left to right ventricle

Due to all the blood flowing from the right atrium to the
ventricle (2) CXR
Because all the blood flowing to the pulmonary circulation
Overfilling of the right ventricle caused by all the blood
coming for the left ventricle
(3) Echocardiogram

(2) CXR
Because all the blood flowing to the pulmonary circulation

(3) Echocardiogram

Acyanotic Congenital Heart Defects CARDIOVASCULAR PATHOLOGY: Note #26. 9 of 13

 (E) COARCTATION OF THE AORTA (F) NEWBORN SCREENING

(1) ECG

(2) CXR
Because of the constriction ring

Because of the decreased perfusion on the descending Compares preductal right hand vs postductal right foot by
aorta checking their pulse
o Difference >10% needs follow up

(3) Echocardiogram

IX) TREATMENT
(A) A.S.D.

(i) For a small defect

(ii) For a larger defect causing symptoms or

concerning signs

(B) V.S.D.

(i) For a small defect

(ii) For a larger defect causing symptoms or

concerning signs

(iii) Medical Therapy

o In case of CHF symptoms

(C) E.C.D.

(i) Due to high risk of Eisenmenger Syndrome

(ii) Medical Therapy

o For CHF symptoms

10 of 13 CARDIOVASCULAR PATHOLOGY: Note #26. Acyanotic Congenital Heart Defects

 (D) P.D.A.
(i) For a small defect
(i) Conditions:
(ii) Preterm infants a. Coarctation of the Aorta
b. D-transposition of great arteries
c. Hypoplastic left heart syndrome
d. Total anomalous pulmonary venous connection
e. Tricuspid atresia

(iii) For a larger defect causing symptoms or

concerning signs

Sometimes PDA keeps patients alive

(E) COARCTATION OF THE AORTA

(i) For infant type (preductal)

(ii) For the adult type (postductal)

(F) EISENMENGER SYNDROME

(i) Pulmonary vasodilators

(ii) Heart and/or lung transplant

Acyanotic Congenital Heart Defects CARDIOVASCULAR PATHOLOGY: Note #26. 11 of 13

 X) APPENDEX

Table 2. Summary of the Heart Sounds and their pathophysiology in different heart defects

12 of 13 CARDIOVASCULAR PATHOLOGY: Note #26. Acyanotic Congenital Heart Defects

 XI) REVIEW 11) An echocardiogram performed on a six-months-old
baby revels a stenotic lesion located right before a
1) Which of the following is a physiologic change P.D.A.
associated with left-to-right shunts?
What would be the right treatment in this case?
a) Increased systemic blood flow
a) Stay expectant since it will be fixed spontaneously
b) Increased pulmonary blood flow
b) Indomethacin or ibuprofen
c) Decreased central venous pressure
c) Pulmonary vasodilators
d) Decreased aortic pressure
d) PGE1 infusions
2) Incomplete formation of the septum secundum
results in which congenital defect?
a) Coarctation of the Aorta XII) REFERENCES
b) Ventricular Septal Defect
c) Atrial Septal Defect Kumar, V., Abbas, A. K., & Aster, J. C. (2020). Robbins
d) Endocardial Cushion Defect & Cotran Pathologic Basis of Disease. Elsevier
3) Which of the following is FALSE regarding patent Gezondheidszorg.
ductus arteriosus?
a) It shunts blood from the pulmonary artery to the
aorta
b) It is associated with intrauterine rubella infection
c) The purpose of the ductus arteriosus in utero is to
redirect blood away from the hepatic circulation
d) In a healthy infant, the ductus arteriosus regresses
and forms the ligamentum arteriosum
4) Which of the following mechanism results in
hepatomegaly in infants with left to right shunt
defects?
a) Decreased blood pressure in the systemic
circulation
b) Decreased Cardiac Output
c) Increased Pulmonary Blood Pressure
d) Eisenmenger Syndrome
5) Which of the following is not typical of Eisenmenger
Syndrome?
a) Overproduction of EPO
b) Low Hematocrit Levels
c) Low Oxygen Saturation
d) Clubbing of Fingers
6) In auscultation, where is the diastolic rumble heard
in patients with ASD?
a) Left 2nd intercostal space
b) Right Mid-axillary Line
c) Mediastinum
d) Lower Sternal Borders
7) Which of the following heart sound is found in both
ECD and VSD?
a) Holosystolic murmur
b) Diastolic Rumble
c) Wide Pulse Pressure
d) Loud S2
8) In which of the following defects is there differential
cyanosis?
a) ASD
b) VSD
c) ECD
d) Coarctation of Aorta
9) In most acyanotic CHD an ECG won’t show a
characteristic finding EXCEPT for the following one:
a) A.S.D.
b) V.S.D.
c) P.D.A.
d) E.C.D.
10) In which acyanotic CHD you will find a “three sign”
when getting a CXR of the patient?
a) A.S.D.
b) P.D.A.
c) CoA
d) E.C.D.

Acyanotic Congenital Heart Defects CARDIOVASCULAR PATHOLOGY: Note #26. 13 of 13