[Downloaded free from http://www.annals.in on Thursday, December 13, 2018, IP: 116.206.32.

34]

Annals of Cardiac Anaesthesia 2007; 10: 19–26 Chowdhury REVIEW ARTICLE

Pathophysiology of CHD 19

Pathophysiology of Congenital Heart Diseases

Devyani Chowdhury, MBBS, FAAP, FACC
Consultant, Department of Paediatric Cardiology, St. Stephens Hospital, Tis Hazari, Delhi

C ongenital heart disease occurs in 8 children

for every 1000 liveborns. Out of these 50% are
significant in the sense that they produce
haemodynamic effects. The classification of
congenital heart diseases is shown in table 1.
This article will focus on the pathophysiology
of some of the commonly encountered congenital
heart defects. In addition, physiology of some
surgical procedures such as Glenn and Fontan will
also be described.

LEFT TO RIGHT SHUNTS

Table 1. Classification of Congenital Heart Diseases:
1. Left to right shunts
The commonest physiology that is seen in
Atrial level: ASD, TAPVC
patients with congenital heart disease is left to right
Ventricular level: VSD
shunts. A physiological left to right shunt is when
Great artery level: PDA, AP window,
oxygenated blood returns back to the lungs to
Truncus arteriosus
get re-oxygenated. This creates a redundancy in
Coronary level: ALCAPA, coronary fistula
the circulation. In patients with left to right shunt,
2. Right to left shunts
there is an increased venous return from the
TOF physiology
TGA physiology
lungs via the pulmonary veins to the left atrium
3. Left heart obstructive lesions
and the left ventricle (LV). This creates a volume
Obstructed veins
overload on the LV. Thus, in a left to right shunt
Mitral stenosis there is a volume overload to the LV, pulmonary
Aortic stenosis circulation and a decreased systemic cardiac
Coarctation output.
Interrupted aortic arch
Hypoplastic left heart syndrome The physiological alterations associated with
4. Right heart obstructive lesion left to right shunt lesions at the ventricular or
Pulmonary stenosis / atresia great artery level are determined principally by the
Tricuspid stenosis size of the defect and the post-natal changes in
Hypoplastic right heart systemic (SVR) and pulmonary (PVR) vascular
5. Single ventricle resistances. In the foetal stage a large defect has no
6. Others major physiological effect as the PVR is high,
Vascular rings which limits the blood flow to the lungs. With
Venous anomalies transition to extra-uterine circulation there is a
Arteriovenous fistulae decrease in the PVR with a simultaneous increase
ASD: atrial septal defect, TAPVC: total anomalous pulmonary venous connection,
in SVR (Fig. 1). This usually happens between
VSD: ventricular septal defect, PDA: patent ductus arteriosus, AP: aorto- 2-6 weeks of life and causes manifestation of
pulmonary, ALCAPA: anomalous left coronary artery from pulmonary artery,
TOF: tetralogy of Fallot, TGA: transposition of great arteries. left to right shunts in the form of congestive heart
failure. In addition, the physiological nadir in the
haemoglobin that occurs in the first 3 months also
Address for Correspondence: Dr. Devyani Chowdhury, Consultant Paediatric
Cardiologist, St. Stephens Hospital, Tis Hazari, Delhi.
exaggerates heart failure.
E-mail: devyani0822@gmail.com
Annals of Cardiac Anaesthesia 2007; 10: 19–26 Any manoeuvres that decrease the PVR such as
Key words: Congenital heart disease, Pathophysiology, Heart disease administration of oxygen, nitric oxide, or low

Review Article.p65 19 12/27/2006, 1:30 AM

[Downloaded free from http://www.annals.in on Thursday, December 13, 2018, IP: 116.206.32.34]
20 Chowdhury Pathophysiology of CHD
Fig. 1. X-axis depicts age of the patient from antenatal to postnatal
period and Y-axis depicts the pulmonary vascular resistance (PVR).
There is a decrease in PVR at birth which continues to decline in the
first 2-6 weeks.
arterial carbon dioxide tension and alkalosis will
increase the left to right shunt. This increase in left
to right shunt will be at the cost of decreased
systemic output. With continued left to right
shunting of blood, there is damage to the
pulmonary vasculature ultimately causing
hyperplasia of the vessel walls and pulmonary
hypertension. Reversible pulmonary hypertension
patho-physiologically indicates that with the
discontinuation of the left to right shunt there will
be return to normal PVR so the elevated PVR is
secondary to increased pulmonary blood flow
(Qp). Another circumstance, which is unrelated
to left to right shunt where the PVR is reversible,
is when the left atrial pressure is elevated as in
mitral stenosis in the face of a normal Qp. In these
patients relief of the mitral stenosis decreases the
trans-pulmonary gradient and PVR returns to
normal.
Irreversible pulmonary hypertension indicates
that the elevated resistance is secondary to changes
in the vessel wall (Heath Edward Class III or
greater). In this circumstance the Qp can be same
or just slightly above systemic flow but the mean
pulmonary artery pressure is elevated or there is a
high trans-pulmonary gradient. A PVR greater than
8 woods unit or a ratio of PVR:SVR > 0.5 is even
more significant indicator of pulmonary vascular
disease.
Review Article.p65 20
Annals of Cardiac Anaesthesia 2007; 10: 19–26
Atrial septal defect (ASD, Fig. 2)
Fig. 2. Showing atrial septal defect (ASD). Arrows depict flow of red
blood from left atrium (LA) to right atrium (RA) across the ASD. There
is dilated RA and right ventricle (RV). (LV: left ventricle, PA: pulmo-
nary artery, A: aorta, IVC: inferior vena cava, SVC: superior vena cava,
PV: pulmonary vein)
In an ASD, there is a left to right shunt at the
atrial level. This results in dilatation of right atrium
and right ventricle with increased pulmonary
venous return to the left atrium. This causes a
volume overload to the left atrium also. In an ASD
there is therefore bi-atrial volume overload and a
volume overload to the right ventricle (RV). With
time there is a progression towards irreversibility
of the PVR.
Haemodynamics
Saturation data: Since the left to right shunt is at
the atrial level there is a step up of saturation from
the superior vena cava (SVC) to the right atrium.
The pulmonary artery saturation will be higher
than the SVC saturation and will indicate the
degree of left to right shunt. Higher the pulmonary
artery saturation greater is the left to right shunt.
Pressure Data: The right atrial and left atrial
pressures will be equal and normal. The RV
pressure will be lower than the LV pressure, but
may be slightly higher than normal. The RV
12/27/2006, 1:30 AM
[Downloaded free from http://www.annals.in on Thursday, December 13, 2018, IP: 116.206.32.34]
Annals of Cardiac Anaesthesia 2007; 10: 19–26
Fig. 3. A picture depicting a ventricular septal defect (VSD) with a left
to right shunt.
pressure can be about 1/3 to 1/2 systemic pressure
in a large ASD.
Ventricular septal defect (VSD, Fig. 3)
In VSD, there is a left to right shunt across the
ventricular level. This shunting occurs during
systole and blood from LV is ejected in systole to
the pulmonary circulation and causes a volume
overload to the left atrium and the LV. There is
increased Qp. There is no volume overload to the
RV as blood physiologically during systole makes
it directly into the pulmonary circulation. Since in
a VSD, the shunting occurs during systole (high
pressure), the left to right shunt is
haemodynamically more significant and the
progression towards pulmonary vascular disease
is sooner. It is important to recognize that in a large
VSD both the right and the left ventricles are at
systemic pressure, but the blood still shunts left to
right due to lower PVR distally.
Haemodynamics
There is a step up in the saturation from SVC to
pulmonary artery. The RV pressure is determined
by the size of the VSD— a large VSD (equal or
larger than the size of aortic annulus) will have
systemic RV pressure. In the face of a small VSD,
the RV pressure can be normal. If there is
pulmonary vascular disease then the RV pressure
will be elevated. It is possible to have a VSD that is
Review Article.p65 21
Chowdhury Pathophysiology of CHD 21
Fig. 4. Showing patent ductus arteriosus (PDA). The arrow depicts a
left to right shunt from the aorta to the pulmonary artery via PDA.
(RA: right atrium, LA: left atrium, RV right ventricle, LV: left ventricle,
PA: pulmonary artery, Ao: aorta, IVC: inferior vena cava, SVC: superior
vena cava, PV: pulmonary vein)
pressure restricted (RV pressure less than half
systemic pressure) but still is not volume restricted
(i.e Qp:Qs > 2:1).
Patent ductus arteriosus (PDA, Fig. 4)
In a PDA, there is a left to right shunt during
systole and diastole from the aorta to the
pulmonary artery. Compared to the aorta the
pulmonary artery pressures are lower in both
systole and diastole so there is a continuous shunt.
This shunt creates a volume overload on the left
atrium and LV. The shunting during diastole,
particularly in a large PDA may produce steal of
blood from coronary artery. Again in a large PDA,
there is progression of pulmonary vascular disease.
An aorto-pulmonary window physiologically is
like a large PDA.
Haemodynamics
With left to right shunt there is a step up of
saturation from the SVC to pulmonary artery. The
RV pressure is normal unless there is pulmonary
artery hypertension.
12/27/2006, 1:30 AM
[Downloaded free from http://www.annals.in on Thursday, December 13, 2018, IP: 116.206.32.34]
22 Chowdhury Pathophysiology of CHD
Truncus arteriosus
In truncus arteriosus, the pulmonary arteries are
connected to the aorta. A decrease in PVR at birth
causes a left to right shunt with evidence of
congestive heart failure. These patients have a very
high incidence of pulmonary hypertension and
vascular disease.
Total anomalous pulmonary venous connection
(Fig. 5)
In this condition, the pulmonary venous return
is to the right heart. There is complete mixing of
blue and red blood. Some of this mixed blood
crosses over to the left heart via an atrial level shunt
and the patient has systemic cyanosis. There is a
left to right shunt as the oxygenated blood returns
back to the lungs to get oxygenated. However, the
right atrium and RV are enlarged and the left heart
appears small as there is paucity of blood returning
to the left heart. Although the left heart is formed
normally, it is very non-compliant and has diastolic
dysfunction.
There is a very dynamic pulmonary vascular bed
and these patients are very predisposed to
Fig. 5. Showing total anomalous pulmonary venous return. All the
pulmonary venous return returns to the right heart and then mixed
blood crosses over via an atrial septal defect (ASD) to the left heart.
(RA: right atrium, LA: left atrium, RV: right ventricle, LV: left ventricle,
PA: pulmonary artery, Ao: aorta, IVC: inferior vena cava, SVC: superior
vena cava, PV: pulmonary vein)
Review Article.p65 22
Annals of Cardiac Anaesthesia 2007; 10: 19–26
pulmonary hypertensive crisis. In addition, it is
important to recognize those patients that have
pulmonary venous obstruction as in these patients,
there is a mechanical obstruction to the return of
pulmonary venous blood causing systemic to
supra-systemic pulmonary pressures with an
extremely low cardiac output.
Anomalous left coronary artery from
pulmonary artery (Fig. 6)
The left coronary artery arises from the
pulmonary artery. With a decrease in PVR, there is
left to right shunt created within the myocardial
bed. The oxygenated blood from aorta goes to the
right coronary artery, in the capillary network with
the left coronary artery there is a left to right shunt,
the blood from right coronary artery goes into the
left coronary artery and then into the pulmonary
artery. There is retrograde filling of the left
coronary artery and at the same time there is
myocardial steal causing myocardial ischaemia and
infarction. This causes a dilated cardiomyopathy
with mitral regurgitation.
Fig. 6. Showing anomalous left coronary artery from pulmonary artery.
The figure demonstrates retrograde filling of the left corononary artery.
RIGHT TO LEFT SHUNTS
A physiological right to left shunt is when the
deoxygenated blood that returns from the tissues
returns back to the body without getting re-
oxygenated.
12/27/2006, 1:30 AM
[Downloaded free from http://www.annals.in on Thursday, December 13, 2018, IP: 116.206.32.34]
Annals of Cardiac Anaesthesia 2007; 10: 19–26
Tetralogy of Fallot (Fig. 7)
In a Tetrology of Fallot, due to presence of RV
outflow tract obstruction, there is a right to left
shunt across the large non-restricted VSD. The
patient is cyanotic due to paucity of pulmonary
blood flow. In the absence of additional sources of
blood flow, the LV is smaller than RV as the
pulmonary venous return is decreased.
Haemodynamics
The saturation in the pulmonary artery is the
same as the superior vena cava. The saturation in
the aorta is lower than the saturation in the
pulmonary vein due to a right to left shunt at the
ventricular level. The RV pressures are systemic
due to the presence of a non-restrictive VSD and
the pulmonary artery pressures are normal.
Fig 7. Showing tetralogy of Fallot. There is obstruction to blood flow
across the pulmonary artery causing a right to left shunt across the
ventricular septal defect as indicated by the arrow. (RA: right atrium,
LA: left atrium, RV: right ventricle, LV: left ventricle, PA: pulmonary
artery, Ao: aorta)
In a “Tet” spell, there is spasm of the
infundibular muscle causing all the blood from the
Review Article.p65 23
Chowdhury Pathophysiology of CHD 23
RV to shunt across the VSD to the systemic
circulation. There is no pulmonary venous return
to the left heart. The physiological treatment of
“Tet” spell is to increase the SVR and to increase
the preload of the right heart. These manoeuvres
will decrease the right to left shunt and increase
the flow across the pulmonary valve.
Transposition of great arteries (TGA, Fig. 8)
In transposition of great arteries there is
ventriculo-arterial discordance; RV connected to
aorta and LV to pulmonary artery. This creates a
parallel circulation in contrast to a normal series
circulation. The deoxygenated blood returning to
the right heart returns back to the systemic
circulation and the oxygenated blood from the
pulmonary venous side returns back to the lungs.
Therefore, in transposition, there is physiologically
a complete left to right shunt and a complete right
to left shunt. The only way for the patient to survive
is, if there is anatomically a shunt from the right heart
to the left heart and vice versa. This will allow some
of the deoxygenated blood to reach the pulmonary
circulation and oxygenated blood to the systemic
circulation. So in a transposition physiology, there
is no paucity of pulmonary blood flow, but there
is poor “mixing” of blood. So manoeuvres to
augment pulmonary blood flow like a shunt do not
necessarily treat the cyanosis. To increase the atrial
level mixing by creating a septostomy is a more
effective way to treat the cyanosis.
Haemodynamics
There is a step up of saturation from the SVC to
the aorta if there is mixing of blood at the atrial or
ventricular level or great artery level. The
pulmonary artery saturations are increased as the
pulmonary venous blood returns to the pulmonary
artery. The saturation data is extremely difficult to
interpret in a TGA. If there is an anatomical shunt
from the RV to LV, then only there is a decrease in
pulmonary artery saturation. The RV pressures
remain systemic, however, the LV pressures
decrease in association with a decrease in PVR,
unless there is another cause of maintaining high
LV pressure like a large non-restrictive VSD or a
large non-restrictive PDA.
12/27/2006, 1:30 AM
[Downloaded free from http://www.annals.in on Thursday, December 13, 2018, IP: 116.206.32.34]
24 Chowdhury Pathophysiology of CHD
Fig. 8. Showing circulation in transposition of great arteries. In
transposition, there is a parallel circulation creating a physiological
state that is incompatible with life. There is shunting of blood between
right heart and left heart (anatomical shunts) at atrial, ventricular or
great artery level causing mixing that allows compatibility with life.
(RV right ventricle, LV: left ventricle, PA: pulmonary artery, Ao: aorta)
Double outlet right ventricle (DORV)
In a patient with DORV depending on the
relationship of the great arteries and the VSD, there
can be manifestation of one of the 3 physiology:
VSD physiology with left to right shunt and
congestive heart failure, Tet physiology in the face
of pulmonary stenosis causing paucity of
pulmonary blood flow causing cyanosis, or a
transposition physiology causing cyanosis with
congestive heart failure.
Single ventricle (Fig. 9)
There is complete mixing of blood and the
quantity of pulmonary flow will be governed by
degree of pulmonary stenosis. In the face of no
pulmonary stenosis the Qp is far greater than Qs,
as the PVR will be much lower than SVR, causing
increased left to right shunt and congestive heart
failure. In case of severe stenosis, there is a
necessity of a ductus or a shunt to maintain
adequate pulmonary blood flow. Also, there can
be cases with just enough pulmonary stenosis that
may create a balanced circulation where Qp:Qs is
between 1:1 and 2:1.
In any of the above scenarios the single ventricle
Review Article.p65 24
Annals of Cardiac Anaesthesia 2007; 10: 19–26
Fig. 9. This demonstrates complete mixing as is seen in a single
ventricle when compared to a normal ventricular heart.
(RA: right atrium, LA: left atrium, RV: right ventricle, LV: left ventricle,
PA: pulmonary artery, Ao: aorta, SV: single ventricle)
is pumping cardiac output Q, which is equal to Qs
plus Qp (Q = Qp + Qs). This creates a volume load
on the single ventricle.
Single ventricle physiology with severe
pulmonary stenosis or pulmonary atresia will
require a systemic to pulmonary shunt (Blalock-
Taussig shunt) as there is paucity of pulmonary
blood flow.
Superior vena cava to pulmonary artery
connection
In the steps of palliation of a single ventricle
towards a Fontan operation, a SVC to pulmonary
artery connection is made (Glenn shunt). This now
directs the venous return from the SVC as the sole
venous return to the lungs. This return will be
dependent on upper body circulation, especially
the circulation to brain in children and distally on
the PVR. There is no pumping chamber
incorporated in this connection, so the flow is
completely passive. Manoeuvres that decrease
venous return from brain will decrease the venous
return to the lungs. Hyperventilation decreases
cerebral perfusion and hence will decrease the
venous return to the SVC and decrease Glenn flow.
However, hyperventilation will also decrease PVR
and may augment the passive venous return to the
lungs in a Glenn circulation. So it is important that
12/27/2006, 1:30 AM
[Downloaded free from http://www.annals.in on Thursday, December 13, 2018, IP: 116.206.32.34]

Annals of Cardiac Anaesthesia 2007; 10: 19–26 Chowdhury Pathophysiology of CHD 25

very important that the PVR be low to allow

forward flow of blood in the pulmonary circulation.
Positive pressure ventilation increases the intra-
thoracic pressure and hinders the Fontan
circulation. It is prudent to discontinue positive
pressure ventilation in this circulation as soon as
possible. Also, hyperventilation by providing rapid
multiple breaths also hinders the circulation, as this
does not allow for the blood to go through the
Fontan circulation. A Fontan physiology requires
normal number of breaths in the face of positive
pressure ventilation.

Sometimes patients have elevated pressures in

the Fontan baffle and in these patients to avoid a

SVC

RPA

Fig. 10. Bi-directional Glenn shunt demonstrating a superior vena cava

to pulmonary connection and the blood flow is passive. This is a
temporary surgical procedure as an intermediate procedure for hearts
with only one usable ventricle. (in this illustration tricuspid atresia)
(RA: right atrium, LA: left atrium, LV: left ventricle, PA: pulmonary artery,
Ao: aorta)

there be a balance of ventilation to avoid extreme

IVC
situations.

After a Glenn shunt, the single ventricle receives Fig. 11. Demonstrates a Fontan baffle which is fenestrated as indicated
by the arrow. (SVC: superior vena cava, IVC: inferior vena cava, RPA:
the inferior vena cava (IVC) blood, so the systemic right pulmonary artery)
circulation still receives cyanotic blood, but now
the ventricle is pumping only one cardiac output;
Q is equal to Qs only, Qp is exclusively from passive
SVC
flow from the SVC. Thus a Glenn shunt takes the
volume load off from the single ventricle.
RPA

Fontan physiology
RA
In a patient with Fontan repair, the IVC and SVC
blood is directed passively to the pulmonary
circulation. The only source of blue blood to the
systemic circulation is from the coronary sinus. The
blue and the red blood are thus separated. The
venous return from the liver is also directed to the
pulmonary circulation, which then allows the IVC
regression or prevention of formation of pulmonary
arteriovenous malformations. Since the Fontan Fig. 12. Demonstrates an extra cardiac Fontan connection made with
a Gore-tex tube.
circulation does not incorporate a pumping (SVC: superior vena cava, RPA: right pulmonary artery, RA: right
chamber, there is a passive flow in the circuit. It is atrium, IVC: inferior vena cava)

Review Article.p65 25 12/27/2006, 1:30 AM

[Downloaded free from http://www.annals.in on Thursday, December 13, 2018, IP: 116.206.32.34]
26 Chowdhury Pathophysiology of CHD
low output state, often a fenestration is created
between the Fontan baffle and the right atrium,
which allows for a “pop-off” and maintains cardiac
output but at the cost of cyanosis.
The current strategy in placing the Fontan baffle
is to place it outside the heart to minimize atrial
surgery and future risks of arrhythmias – this is
then called an extra-cardiac Fontan.
In conclusion, there is a complex cardiac and
respiratory physiology that is created by congenital
heart disease. An understanding of the
Review Article.p65 26
Annals of Cardiac Anaesthesia 2007; 10: 19–26
pathophysiology is extremely important for safe
anaesthetic management of these patients.
Further reading:
1. Garson Jr. A, Bricker JT, Fisher DJ, Neish SR,
Eds. The Science and Practice of Pediatric
Cardiology, 2nd edition, William & Wilkins,
Baltimore 1998
2. Rudolph AM, Ed. Congenital disease of the
heart: clinical-physiological considerations, 2nd
edition, Blackwell Publishing, 2001
12/27/2006, 1:30 AM