41
Hypoplastic Left Heart Syndrome, Mitral
Atresia, and Aortic Atresia
PETER LANG AND DONALD C. FYLER
HYPOPLASTIC LEFT HEART SYNDROME
Definition
The term hypoplastic left heart syndrome describes a
diminutive left ventricle with underdevelopment of the
mitral and aortic valves.1 Because of its small size, the left
ventricle is incapable of supporting the systemic circulation.
Some patients have mitral or aortic stenosis, or both, but
most have aortic or mitral atresia and rarely, some with aortic
atresia have a nearly normal-sized left ventricle. These cases
are not properly examples of the hypoplastic left heart
syndrome. Similarly, cases of mitral atresia with a double-
outlet right ventricle are not examples of the hypoplastic left
heart syndrome, nor are those rare instances of mitral atresia
with inverse ventricles.
Prevalence
The recently reported prevalence of hypoplastic left
heart syndrome varies between 0.21 and 0.28 per 1000
live births.2,3 It is the fifteenth most common defect in the
Children’s Hospital Boston series, accounting for approxi-
mately 1% of patients of all ages with heart disease.
Anatomy
The left ventricle is small, often tiny (Fig. 41-1). Usually
the aortic valve is atretic and hypoplastic, although some
babies have severe stenosis. Similarly, the mitral valve may
be hypoplastic, severely stenotic, or atretic. The ascend-
ing aorta is hypoplastic; above an atretic aortic valve, the
diameter of the aorta may be 2 mm or less, very small but
sufficient to supply adequate coronary circulation in a retro-
grade fashion. Untreated infants rarely show coarctation
of the aorta at autopsy, but coarctation is a common prob-
lem among surgically managed survivors, suggesting that the
tendency to develop coarctation is inherent in this anomaly.4,5
The left atrium is small reflecting the limited blood flow in
utero. The atrial septum is thickened; the foramen ovale may
be small and, occasionally, may be closed. A patent ductus
arteriosus is required for survival.
Anomalies of the brain have associated with the hypoplas-
tic left heart syndrome.6
Physiology
Overview
With an atretic aortic valve, survival beyond birth is
dependent on persistent patency of the ductus arteriosus
to maintain the systemic circulation. There have been
occasional reports of long-term survival of children with
hypoplastic left heart syndrome because of prolonged
patency of the ductus arteriosus. Survival to 7 years has been
reported.7
Of necessity, the right ventricle supplies both the
pulmonary and the systemic circulations via the ductus arte-
riosus, the coronary arteries and brachiocephalic vessels
are supplied in retrograde fashion. The relative flow to the
pulmonary and systemic circuits depends on the relative
resistances of the two vascular beds. One of the major
influences on total pulmonary resistance is the size of the
interatrial orifice. A restrictive atrial defect tends to raise
left atrial pressure and total pulmonary resistance, limiting
715
716 Congenital Heart Disease
FIGURE 41–1 Drawing of the anatomy of the hypoplastic left
heart syndrome. Note the tiny ascending aorta (Ao) that supplies
the coronary circulation in a retrograde direction. No blood
passes through the diminutive left ventricle (LV). The left atrium
(LA) empties through an incompetent foramen ovale into the
right atrium (RA), where all systemic and pulmonary venous
blood becomes mixed. The ductus arteriosus (PDA) supplies the
entire circulation to the body.
From Nadas AS, Fyler DC [eds]. Nadas’ Pediatric Cardiology.
Philadelphia, PA: Hanley and Belfus, 1992.
pulmonary blood flow, whereas a nonrestrictive opening
does not.
There is a nearly direct relationship between the amount
of pulmonary blood flow and the systemic arterial oxygen
saturation. The greater the pulmonary blood flow, the
greater the quantity of oxygenated pulmonary venous blood
that will return to the heart and mix with the systemic
venous return (Fig. 41-2).
It is interesting to speculate that patients with completely
unrestricted pulmonary blood flow are likely to succumb
to severe congestive heart failure secondary to right ventric-
ular volume overload whereas those individuals with
FIGURE 41–2 Diagram showing ideal preoperative physiology.
Low systemic vascular resistance and high pulmonary vascular
resistance result in a Qp/Qs of approximately 1.
From Nadas AS, Fyler DC [eds]. Nadas’ Pediatric Cardiology.
Philadelphia, PA: Hanley and Belfus, 1992.
some resistance to pulmonary blood flow may survive.
Nonetheless, life for more than a few weeks is precluded.
Transitional Circulation
In the hypoplastic left heart syndrome, as in most forms
of congenital heart disease, the intrauterine circulation is
adequate to meet the needs of the developing fetus. It is
noteworthy that this most lethal congenital heart defect
supports normal intrauterine growth.
In utero, all circulation, with the exception of the small
amount of pulmonary venous return, passes through the
right side of the heart. Streams of superior and inferior
vena caval blood return to the right atrium and join the
pulmonary venous return (5% to 10% of the cardiac output).
The complete admixture of all venous return (that from
the placenta as well as the fetus) results in blood flow with
identical oxygen saturation to all parts of the fetus. The right
atrial return then crosses the tricuspid valve to the right
ventricle. The lack of a left ventricular contribution to cardiac
output results in a modest right ventricular volume overload.
 Hypoplastic Left Heart Syndrome, Mitral Atresia, and Aortic Atresia
At this point in the circulation, certain physiological
questions emerge, even in utero. The relative flow to the
pulmonary or systemic circulation is largely dependent on
the relative resistance of the pulmonary and systemic vascu-
lar beds. Of equal importance is the status of the pulmonary
venous return. There is growing evidence that the devel-
opment of the interatrial septum is abnormal8 (and of possi-
ble primary etiologic significance) in hypoplastic left heart
syndrome. In the face of mitral valve atresia, or even severe
mitral valve stenosis, an obstructive interatrial septum can
result in left atrial hypertension. Even though pulmonary
blood flow is low in utero, altered intrauterine pulmonary
venous pressure might be the best explanation for the abnor-
mal muscularization of the pulmonary veins in these patients.
Similarly, the abnormal atrial septal thickness may be caused
by left atrial hypertension in utero.
There is less speculation about the circulation beyond
the ductus arteriosus. It is common to see a posterior aortic
ridge of tissue opposite the site of the ductus; systemic
blood flow bifurcates at this point. In cases of aortic valve
atresia, in which the sole source of systemic blood flow
is from the ductus arteriosus, the aortic arch becomes
progressively smaller between the ductus and the coronary
arteries. Sometimes the origin of the left subclavian artery
is involved with ductal tissue and it may become stenotic
with time. The ascending aorta, carrying retrograde flow, is
an end artery (a common coronary artery) and is frequently
2 mm or less in diameter. This small size is appropriate for
the coronary flow required by the newborn heart. However,
it must be remembered that coronary blood flow is depend-
ent on a long unobstructed path from the right ventricle to
the ascending aorta via the ductus arteriosus. Shortly after
birth, coronary flow, as well as cerebral flow, can be compro-
mised, because the aortic isthmus may include ductal tissue
that can constrict and obstruct the aorta.
At birth, when the ductus arteriosus is widely patent
and the pulmonary arteriolar resistance is relatively high,
a brief honeymoon begins. The widely patent ductus arte-
riosus does not restrict systemic blood flow at a normal
right ventricular systolic pressure. In the absence of ductal
constriction, there is no narrowing of the aortic arch,
ensuring good coronary and renal perfusion.
A modestly restrictive foramen ovale limits pulmonary
blood flow to some extent. More important, in newborns
the elevation in pulmonary arteriolar resistance keeps
pulmonary blood flow at manageable levels. The moderate
limitation in pulmonary blood flow caused by the relatively
high resistance is not enough to produce dangerously low
systemic arterial oxygen saturation (Fig. 41-2).
Unfortunately, this ideal state of physiologic palliation
is short lived. Although infants diagnosed in utero by two-
dimensional echocardiography are seen in this state, most
children with the hypoplastic left heart syndrome pass
717
through this honeymoon period without recognition. They
behave normally and, unless their duskiness is questioned,
are often thought to be well.
Two normal physiologic events conspire to bring chil-
dren with a hypoplastic left heart to medical attention: The
ductus arteriosus begins to close and pulmonary vascular
resistance decreases. Partial closure of the ductus arterio-
sus has several profound effects. The first, and the most
obvious, is the alteration in the relative resistances of blood
flow to the systemic and pulmonary circulation. The effect
on the systemic circuit can be either subtle or dramatic.
A decrease in systemic output in a newborn has many mani-
festations. The child’s color may be poor despite a rise in
the systemic oxygen saturation (see below); the peripheral
pulses are weak with a narrow pulse pressure; periph-
eral perfusion can deteriorate; and the child may become
lethargic. Concomitant with these changes is an absolute
and relative increase in pulmonary blood flow. The major
manifestation of this change is tachypnea, with the inevitable
inability to breathe and suck at the same time. The force
feeding of the pulmonary circulation by the closure of the
ductus arteriosus is abetted by the normal fall in pulmonary
resistance. The relaxation of the pulmonary bed, which
may be seen even in the first day of life,9 may be tempered
by the development of acidosis secondary to poor cardiac
output.
Usually the end result of progressive ductal closure and
falling pulmonary vascular resistance is profound cardio-
genic shock. The decreased systemic blood flow is accom-
panied by poor coronary perfusion. Thus, the right ventricle
may have an increased pressure load (secondary to
ductal constriction), an increased volume load (secondary
to increased pulmonary blood flow), and, because of poor
coronary flow, has less wherewithal to do the work. Right
ventricular dysfunction and dilation with tricuspid regurgi-
tation only exacerbate the volume overload. Finally, the
increased pulmonary blood flow, with obstructed outflow
from the left atrium, increases pulmonary venous pressure,
contributing to the difficulty in breathing. It is no surprise
that children with hypoplastic left heart syndrome often pres-
ent to medical attention gasping for breath, in a profound
low-output state, acidotic, and in renal failure (Fig. 41-3).
Before the introduction of prostaglandin E1, a child in
profound cardiogenic shock secondary to hypoplastic left
heart syndrome died quickly, often before surgical inter-
vention could be organized. Although some children did
survive to undergo palliative surgery, they were a select
few whose systemic circulation was maintained by persist-
ent patency of the ductus arteriosus. With the use of
prostaglandin E1, the ductus arteriosus almost invariably
reopens. Once an unobstructed pathway from the right
ventricle to the aortic arch has been secured, support
for the right ventricle is needed. Usually, the ventricle has
718 Congenital Heart Disease
FIGURE 41–3 Diagram showing closing ductus physiology:
decreased systemic blood flow, poor coronary perfusion,
increased pulmonary blood flow, and the Qp/Qs is approximately
3. There is an increase in right ventricular volume overloading,
right ventricular end-diastolic pressure, and left atrial pressure.
There is right ventricular dysfunction.
From Nadas AS, Fyler DC [eds]. Nadas’ Pediatric Cardiology.
Philadelphia, PA: Hanley and Belfus, 1992.
suffered from a period of relative ischemia secondary to poor
coronary perfusion; indeed, right ventricular infarctions have
been seen occasionally. In addition, the ventricle has had
both a pressure and a volume overload and may have been
deprived of adequate metabolic substrate because of hypo-
glycemia and hypocalcemia. Renal failure may result in an
additional fluid overload and hyperkalemia. Finally, hepatic
insufficiency, a frequent finding in the setting of low systemic
output, may exacerbate the problems of hypoglycemia and
acidosis. Inotropic support of the right ventricle must be
given gingerly so that whatever metabolic aberrations are
present do not contribute to toxic drug reactions.
The physiologic state following resuscitation is never quite
as ideal as that seen shortly after birth (Fig. 40-4). The rela-
tive resistance of the pulmonary and systemic circuits will
have changed in the days following birth and that change may
have been influenced by the infusion of prostaglandin E1.
FIGURE 41–4 Diagram showing acceptable physiology. The
Qp/Qs is approximately 2. There is mild right ventricular volume
overloading (approximately three times that of normal), a mild
increase in right ventricular end-diastolic pressure, and a mild
increase in left atrial pressure.
From Nadas AS, Fyler DC [eds]. Nadas’ Pediatric Cardiology.
Philadelphia, PA: Hanley and Belfus, 1992.
The overall pulmonary-to-systemic flow ratio is likely to be
at least 2, with resulting systemic arterial oxygen saturation
in the range of 85%. Consequently, the right ventricle
is volume loaded to the extent that it is pumping three
times the normal volume in order to maintain an adequate
systemic cardiac output. An increase in right ventricular
end-diastolic pressure is a usual finding. The excessive
pulmonary blood flow results once again in a volume load
to the left atrium. The obstruction to atrial outflow results
in pulmonary venous hypertension.
All of this is relatively acceptable. Unfortunately, the
transitional circulation is not stable. With the passage of
hours, and with, ironically, metabolic improvement, there
is a continued decrease in pulmonary vascular resistance.
Because the relative resistance of the pulmonary and
systemic circulations determines the relative flows to the two
circuits, when the maximum volume capacity of the right
 Hypoplastic Left Heart Syndrome, Mitral Atresia, and Aortic Atresia
ventricle is reached (perhaps between four and five times
normal, a Qp/Qs of 4), there is a decrease in systemic output.
This time, the low output state is not a function of ductal
obstruction, but simply a product of the inability of the right
ventricle to meet the ever increasing volume demand caused
by a decreasing pulmonary vascular resistance. The result
of all of this is a continuation of the earlier evolution of the
transitional circulatory changes. There is severe right ventric-
ular volume overloading, the right ventricular end-diastolic
pressure rises, and there may be right ventricular dilation
with tricuspid regurgitation, making matters worse. Once
again, the poor systolic perfusion may result in renal failure
and acidosis. Left atrial hypertension will impair gas
exchange and, in all probability, necessitate intubation and
assisted ventilation (Fig. 41-5).
FIGURE 41–5 Diagram of the low pulmonary resistance physi-
ology. The Qp/Qs is approximately 4. There is severe right ventric-
ular volume overloading (approximately five times that of
normal), an increase in right ventricular end-diastolic pressure,
an increase in left atrial pressure, poor systemic perfusion, low
urine output, acidosis, poor right ventricular performance, right
ventricular dilation, and tricuspid regurgitation.
From Nadas AS, Fyler DC [eds]. Nadas’ Pediatric Cardiology.
Philadelphia, PA: Hanley and Belfus, 1992.
719
Clinical Manifestations
The infant, usually male (67%), seems healthy at birth.
The incidence of prematurity and associated extracardiac
anomalies is low. No murmur is heard. Within hours, or a day
or so, the nursery nurse may notice that the baby, at times,
has poor color, is pale, or somehow just “doesn’t seem right.”
These observations are an exception rather than the rule.
More often, without warning, the infant suffers circulatory
collapse, becoming ashen, cyanotic, gasping, and near death.
There are no palpable pulses. The infant is resuscitated, infu-
sion of prostaglandin E1 is begun, and the baby is transferred
immediately to the nearest pediatric cardiac center.
Electrocardiography
Although, statistically, electrocardiograms in infants
with hypoplastic left heart syndrome tend to show less than
the usual left ventricular voltages for a newborn infant, this
feature is not helpful because many normal newborns also
have this pattern. Suffice it to say that the electrocardiogram
of an infant with hypoplastic left heart syndrome is rarely
interpreted as showing left ventricular hypertrophy and
usually shows a little more right ventricular hypertrophy
than normal.
Chest Radiography
There is little about the chest radiograph that is specific.
The size of the heart and the amount of pulmonary vascu-
lature are variable; the heart may be very large and the
pulmonary vasculature increased.
Echocardiography
The hypoplastic left heart syndrome is recognized in
detail at echocardiography (Fig. 41-6). Indeed nowadays
increasing numbers of affected babies are being recog-
nized by fetal echocardiography long before delivery.
The abnormal mitral and aortic valves, the diminutive left
ventricle, and the hypoplastic ascending aorta, as well as the
flow of blood from the left atrium to the right, are readily
identified and confirm the diagnosis. The coronary arter-
ies are supplied from a tiny ascending aorta, often only a
few millimeters in diameter. Doppler imaging may reveal
retrograde flow in the ascending aorta. The left atrium
is small and the atrial septum bulges toward the right. An
absent or hypoplastic mitral valve is recognized and the
diminutive left ventricle is often visualized. The ductus arte-
riosus is large and carries blood from the pulmonary artery
to the aorta.
The atretic or hypoplastic mitral valve and the hypoplas-
tic left ventricle can be seen in subxiphoid or apical views.
Doppler examination of the mitral valve is useful to deter-
mine if it is atretic. A potential pitfall in evaluating left
ventricular size results from the tendency for the left
720 Congenital Heart Disease

A B

FIGURE 41–6 Echocardiographic images in newborn with hypoplastic left heart syndrome.
A, The apical four-chamber view shows the large, apex-forming right ventricle (RV) containing hypertrophied papillary muscles
(PM). The diminutive chamber of the left ventricle (LV) extends only a fraction of the heart length. B, In parasternal short axis views,
the tiny ascending aorta (Ao) giving rise to the left main coronary artery (LMCA) is seen to lie directly posterior to the very large
pulmonary valve (PV).

ventricle long-axis dimension to be reduced before the
short-axis dimension. If the left ventricle is evaluated using
either two-dimensional or M-mode echocardiography in
short-axis projection only, the severity of hypoplasia can be
underestimated.
Parasternal and suprasternal views are best for imaging
the hypoplastic ascending aorta and aortic arch. The point
of juncture of the ductus arteriosus and the arch is often
narrow, with a discrete coarctation being present.
The atrial septum can be imaged using subxiphoid views.
Tricuspid valve function should be evaluated with Doppler
technique from apical and parasternal views, in that tricus-
pid regurgitation occurs in a significant proportion of
patients. Right ventricular function can be evaluated using
subxiphoid views.
Cardiac Catheterization
Cardiac catheterization nowadays is rarely necessary in
the newborn period, except in those with a virtually intact
atrial septum. In those cases, it is undertaken to create
a septal defect to relieve left atrial hypertension and
pulmonary edema before the stage I surgical procedure.
Although most patients require catheterization at age
6 months before the bidirectional Glenn or hemi-Fontan
operations, it is likely that it will be replaced by magnetic
resonance imaging (MRI) studies in uncomplicated
survivors. It is, however, a standard procedure before the
Fontan operation.
Management
Medical Treatment
Most infants arrive at the cardiac center intubated and
receiving prostaglandin E1. An attempt must be made to
turn back the clock and return to the acceptable level of
pulmonary and systemic blood flow that existed before the
patient’s collapse. Factors that tend to increase pulmonary
vascular resistance (within limits) are needed. The most
direct and controllable means of meeting this end is with
controlled hypoventilation. The FiO2 should be reduced
 Hypoplastic Left Heart Syndrome, Mitral Atresia, and Aortic Atresia 721

to as close to 0.21 as possible to maintain an arterial PO2 of

30 mm Hg. The PCO2 should be allowed to rise to 40 mm Hg
in an attempt to maintain a pH of 7.35 to 7.40. Positive
end-expiratory pressure may also be beneficial in increas-
ing total pulmonary resistance. Because the intrinsic respi-
ratory drive leads to a lower than desired PCO2, heavy
sedation is often required.
The desired result is reduction of the Qp/Qs from 4 to 2
and reduction of the right ventricular volume load from
five to three times normal. This benefit may exceed the
potential benefit of intropic medications and vasodilator
agents. The judicious use of dopamine and milrinone will
aid right ventricular contractibility and reduce systemic
vascular resistance, a combination of effects particularly
beneficial to this group of patients.
A small subgroup of patients requires separate consid-
eration. Rarely, the interatrial communication can be so
obstructive that left atrial hypertension limits pulmonary
blood flow to levels that do not permit adequate oxygena-
tion for prolonged survival. In this instance, the PO2 is
below 20 mm Hg despite the reverse of the manipulations
described in the preceding paragraphs (i.e., high FiO2,
hyperventilation to the point of hypocarbia, and alkalosis).
In this setting, rapid relief of the pulmonary venous obstruc-
tion by an atrial septostomy with or without stent placement
at catheterization is the only alternative.10

Surgical Treatment FIGURE 41–7 Diagram showing ideal postoperative physiology.

Based on the initial attempts to manage the hypoplastic
left heart syndrome, the following goals for successful
palliation were established. First is the need to establish a
permanent unobstructed communication between the
right ventricle and the aorta with preservation of the right
ventricular function. Second is the necessity of limiting
pulmonary blood flow with preservation of pulmonary artery
architecture. The third goal is to relieve pulmonary venous
obstruction (Fig. 41-7).
The surgical procedure developed by Norwood most
nearly satisfies the goals for initial palliation and subsequent
repair of children with hypoplastic left heart syndrome.11
Minimal prosthetic material is used in both the systemic
and pulmonary circulations, allowing for maximal potential
growth. The prosthetic aortopulmonary shunt placed at the
time of initial palliation is, of course, removed at the time
of reparative surgery. The first-stage operation consists of
transection of the distal main pulmonary artery. The aorta,
from the takeoff of the left subclavian artery to the ascending
aorta, is incised, and an anastomosis is established between
the proximal main pulmonary artery and the ascending
aorta and the aortic arch. This connection is almost always
augmented with homograft tissue in order to avoid arch
obstruction. Pulmonary blood flow can be established by a
modified Blalock-Taussig shunt, a central shunt, or a right
Widely patent pathway from the right ventricle to the aorta, limita-
tion of pulmonary blood flow without distortion to the pulmonary
arteries, unrestricted pulmonary venous return, normal-sized
right ventricle, and normal tricuspid valve.
From Nadas AS, Fyler DC [eds]. Nadas’ Pediatric Cardiology.
Philadelphia, PA: Hanley and Belfus, 1992.
ventricle to distal main pulmonary artery shunt (Fig. 41-8).
The latter modification, popularized by Sano12 has the
disadvantage of a small systemic ventriculotomy but the
advantage of avoiding diastolic pulmonary artery run-off,
which can compete with flow to the small ascending aorta
and the coronary arteries. This stage of the operation is
completed by ligating the ductus arteriosus and opening
the atrial septum, unless there is an atrial septal defect.
Surgical Complications
There are numerous potential problems after surgery.4
Some relate primarily to the underlying anatomic defect,
some to the physiologic derangements associated with the
circulatory collapse that first signaled the presence of heart
disease, and some to the surgery.
Atrial Septum. This structure is thicker and more left-
ward in orientation than it is in healthy individuals. It is
722 Congenital Heart Disease
A B
FIGURE 41–8 Drawing showing pulmonary blood supplied by (A) modified (arrow) Blalock-Taussig shunt (arrow) and (B) right
ventricle to pulmonary artery shunt (arrow).
not readily amenable to balloon septostomy. If obstruc-
tive, catheter-directed septostomy, often using a stent, is
performed preoperatively to achieve left atrial acute decom-
pression for stabilization before surgery. At surgery, septec-
tomy is an integral part of the initial palliative operation in
all. Even with purported wide excision of atrial septal tissue,
obstruction to flow has developed (Fig. 40-9). As opposed
to initial palliation, subsequent management with stent
placement or blade atrial septostomy can be achieved,10,13
beneficial, although likely temporary, maneuvers. Because
pulmonary venous hypertension can adversely affect the
development of the pulmonary vascular bed, a restrictive
atrial septal defect should be treated aggressively.
Postoperative development of obstruction to flow across
the interatrial septum may be subtle. Increasing cyanosis
before the time when the child should be outgrowing the
systemic-to-pulmonary shunt might be the first indication
that there is a problem. The intensity of the shunt murmur
may decrease as pulmonary artery pressure increases
subsequent to pulmonary venous hypertension. Fortunately,
two-dimensional echocardiography usually provides a
definitive diagnosis of the problem.
Stenosis of the Pulmonary Veins. Progressive stenosis
of the pulmonary veins may be associated with extreme left
atrial hypoplasia. Whether this occurs because of ongoing
underdevelopment of the left heart structures, progressive
mediastinal fibrosis, or inflammatory difficulties based on
the initial surgery remains unclear.
Tricuspid Regurgitation. The next level of concern
following palliative surgery is the status of the tricuspid
valve. As mentioned earlier, the right ventricle carries an
excess volume and may have been subjected to metabolic
and ischemic injury prior to palliation. Thus, some degree
of tricuspid regurgitation may be expected. The effect of
 Hypoplastic Left Heart Syndrome, Mitral Atresia, and Aortic Atresia 723

than for those with mitral stenosis. A study comparing

those two groups failed to demonstrate a significant differ-
ence. Right ventricular dysfunction after palliative surgery
has not been a prominent finding.4,14 The potentially dele-
terious effect of the ventriculotomy if the right ventricular
to pulmonary artery shunt is used to supply pulmonary
blood flow is an important consideration.
Coarctation of the Reconstructed Aorta. Until
patients began to survive with palliative surgery, it was not
recognized that coarctation of the aorta is a common compo-
nent of the hypoplastic left heart syndrome (Fig. 41-10).4,5
How much of this is caused by constricting ductal tissue
and how much is the result of surgical manipulation is not
always clear. After testing a variety of ways to avoid this prob-
lem, our current practice is to bypass the area of potential
coarctation with an extensive homograph patch augmented
aortic arch reconstruction at the time of initial palliation.9
If coarctation develops, the resulting increase in right
ventricular pressure and the increased pulmonary blood

FIGURE 41–9 Diagram showing restrictive atrial septal defect

physiology. The Qp/Qs is approximately 1. There is pulmonary
artery hypertension due to high left atrial pressure and decreased
oxygen saturation caused by low Qp/Qs and pulmonary venous
desaturation.
From Nadas AS, Fyler DC [eds]. Nadas’ Pediatric Cardiology.
Philadelphia, PA: Hanley and Belfus, 1992.

tricuspid regurgitation on early and late mortality is not

clear.14,15 How much tricuspid regurgitation can occur before
it is necessary to recommend annuloplasty or valve replace-
ment or simply to refer these children for allotransplanta-
tion, remains under discussion.
Right Ventricular Myocardial Problems. The right
ventricle may fare poorly regardless of the status of the
tricuspid valve. Right ventricular dysfunction secondary to
a period of ischemia, acidosis, or severe volume loading
may preclude normal (or even adequate) functional status.
Ventriculocoronary connections may play a role in poor
right ventricular function in the hypoplastic left heart
syndrome.14–19 Thick-walled coronary arteries and myocar-
FIGURE 41–10 Diagram showing coarctation physiology. The
dial fibrillar disarray have been demonstrated in a subset of Qp/Qs is approximately 4. There is increased right ventricular
these patients, particularly those with a patent left ventric- end-diastolic pressure because of decreased ventricular function
ular inflow and obstructed left ventricular outflow tract. and tricuspid regurgitation, pulmonary artery hypertension due
If these were to have a major effect on survival following to increased pulmonary flow, and increased left atrial pressure.
palliative surgery, one would think that overall survival From Nadas AS, Fyler DC [eds]. Nadas’ Pediatric Cardiology.
would be significantly better for patients with mitral atresia Philadelphia, PA: Hanley and Belfus, 1992.
724 Congenital Heart Disease
flow will produce symptoms; the diminished femoral pulses
may provide diagnosis. Management with balloon dilation
has been successful.20,21
Pulmonary Vascular Disease. The pulmonary vascular
bed must evolve normally if a successful Fontan operation is
to be performed later. The excess of blood volume and pres-
sure to which the pulmonary vasculature is exposed must be
kept in mind. Pulmonary vascular disease may be as devastat-
ing as right ventricular dysfunction in terms of the subsequent
suitability of a patient for a modified Fontan operation.
Peripheral Pulmonary Stenosis. If a later Fontan
operation is to be successful, undistorted pulmonary arter-
ies are required (Fig. 41-11). Three features conspire to
deform the pulmonary arteries:
1. If the surgeon uses a long segment of the proximal
main pulmonary artery in reconstructing the ascending
FIGURE 41–11 Diagram showing distorted pulmonary artery
physiology. The Qp/Qs is approximately 2. There is right pulmonary
artery hypertension and left pulmonary artery hypoplasia because
of low flow.
From Nadas AS, Fyler DC [eds]. Nadas’ Pediatric Cardiology.
Philadelphia, PA: Hanley and Belfus, 1992.
aorta, central pulmonary artery deformity may be
the result.15,22,23
2. Constricting ductal tissue may produce obstruction at
the point of insertion of the ductus into the origin of the
left pulmonary artery. Severe narrowing at the takeoff
of the proximal left pulmonary artery may be seen.
3. The point of insertion of the arterial-pulmonary shunt
may cause distortion of the pulmonary artery.
Arterial-Pulmonary Shunts. A modified right Blalock-
Taussig shunt may be the preferred method to supply
pulmonary blood flow.9 Although this provides a favorable
regulation of overall pulmonary blood flow, the distribu-
tion to right and left lungs is not symmetric. The usual
2:1 (ipsilateral:contralateral) distribution of blood flow that
occurs following a Blalock-Taussig shunt is exaggerated by
whatever degree of proximal left pulmonary artery obstruc-
tion is present. This combination of factors can lead to
potential right pulmonary artery hypertension and left
pulmonary artery hypoplasia. Once again, the adverse effects
on a subsequent Fontan operation are apparent. A poten-
tial benefit of the right ventricular to pulmonary artery
shunt as a source of pulmonary blood flow is the central
location of the distal anastomosis; a more symmetric distri-
bution of pulmonary blood flow is expected.
The Systemic Pulmonary Valve. Concern about the
ability of the pulmonary valve to manage the systemic
circulation seems to be unwarranted. There have been few
recognizable problems.24
Management after Palliation
The initial palliation must allow the baby to survive
surgery (Exhibit 41-1), to accommodate to the changes in
pulmonary arteriolar resistance that occur during the first
weeks of life, and to accommodate to the doubling or
tripling of body size. Indeed, cardiopulmonary bypass (with
or without a period of circulatory arrest), general anesthe-
sia, and neuromuscular blockade, followed by a period
of assisted ventilation, all have profound effects on the
pulmonary vasculature. It is not unusual to have an anatom-
ically large shunt appear to be physiologically small imme-
diately following cardiopulmonary bypass. Within hours
there may be a profound lowering of the pulmonary arte-
riolar resistance and the shunt that was too small an hour
ago has suddenly become too large. The same modalities
of treatment that were used before surgery are equally
important immediately following surgery. Administration
of high inspired oxygen, together with hyperventilation and
alkalosis, may be necessary in the first hour after surgery,
rapidly followed by a decrease in FiO2 to room air, with
controlled hypoventilation for the remainder of the period
of assisted ventilation. The right ventricle may require some
degree of inotropic support in the days following surgery.
 Hypoplastic Left Heart Syndrome, Mitral Atresia, and Aortic Atresia
Exhibit 41–1
Children’s Hospital Boston Experience
1988-2002
Hypoplastic Left Heart Syndrome
A total of 402 patients with hypoplastic left heart syndrome
was seen between 1988-2002—of these, 177 are known to
have died. Of the 402, 330 underwent their initial surgery
at Children’s Hospital Boston, with 141 known deaths.
A modified Fontan procedure has been carried out in 149
patients at Children’s Hospital, with 7 deaths (5% mortality
compared with 52% 1973-1987.)
Survival curves for patients operated on at Children’s
Hospital Boston, showing considerable improvement in
more recent group (1995-2002) compared to earlier
groups (1988-1994, 1973-1987.)
Following hospital discharge, virtually all children require
a cardiotonic regimen, of digoxin and diuretics for the period
during which the shunt is relatively large. If all goes well, it
will take several months for the child to grow into the shunt.
The status of the interatrial septum, right ventricular func-
tion, aortic arch reconstruction, and the pulmonary artery
architecture should be monitored using oximetry and two-
dimensional echocardiography. Cardiac catheterization or
MRI is carried out some time before the child is 6 months
old. Assuming an adequate atrial septectomy, good right
ventricular and tricuspid valve function, an unobstructed
pathway from the right ventricle around the aortic arch, and
normal growth of the pulmonary arterial bed with a normal
pulmonary arteriolar resistance. A bidirectional Glenn
shunt, although others advocate a hemi-Fontan operation, is
then carried out. If preoperative evaluation demonstrates a
restrictive atrial septal defect, significant aortic arch obstruc-
tion, or hemodynamically significant aortic to pulmonary
artery collaterals, these are usually addressed in the cardiac
catheterization laboratory. Major pulmonary artery distortion
725
or tricuspid regurgitation can be repaired at the time of the
second stage procedure.
Fontan Operation
In earlier years, despite the initial success of the Fontan
operation following palliative surgery for the hypoplastic
left heart syndrome,11 a number of problems subsequently
occurred.4,25 In part, these resulted from poor patient selec-
tion (Exhibit 41-1). Many of the problems that adversely
affect the outcome of Fontan operation are the result of
the near-lethal preoperative physiology and the complicated
surgical manipulation required for survival. Today, with an
eventual Fontan procedure in mind, every effort is made
to avoid right ventricular injury, to assist the normal evolu-
tion of the pulmonary vasculature, and to avoid distortion
of the pulmonary arteries. Current practice calls for aggres-
sive catheter-directed treatment of residual structural
defects following the initial stage I procedure, an early Glenn
operation at 4 to 6 months to relieve the volume load on
the single right ventricle, and a Fontan procedure, with a
fenestration in the intra-atrial lateral tunnel wall, at two
years of age. This strategy has resulted in a decrease in the
mortality of the Fontan procedure to 5%.
Cardiac Transplantation
Cardiac transplantation is an alternative form of therapy
for infants born with the hypoplastic left heart syndrome.26,30
The technical feasibility of such a procedure has never been
seriously questioned. Issues are the availability of donors30
and the problems of rejection. The results of allotransplan-
tation in newborns are good.31 If issues of donor availabil-
ity are resolved, and if the exceptionally low incidence of
rejection reactions is confirmed over a longer period of
observation, cardiac transplantation will remain as an alter-
native form of treatment.
Ethical Issues
The management of babies with hypoplastic left heart
syndrome, whether by palliation leading to a Fontan proce-
dure or by transplantation, has provoked vigorous ethical
discussion. The scientific facts are as follows:
1. Untreated hypoplastic left heart syndrome is rapidly
and virtually 100% fatal.
2. Surgical treatment (palliation followed by a Fontan
procedure) has an improving mortality and unknown
long-range outcome.
3. The initial mortality for transplantation may be better,
provided a donor heart is found, but the long-range
outcome is equally unknown.
4. Both approaches have produced children who appear
and act normal.
726 Congenital Heart Disease

It is clear that not all physicians would recommend Exhibit 41–2

either surgical route and not all parents would choose
to risk the grief and expense associated with either form
of treatment. The present standard of practice does not
require that either form of treatment be recommended by
the cardiologist or that the parents should agree.
The only ethical question remaining concerns the
adequacy of the information available to all concerned in
such decisions. A responsible physician may recommend
against either approach, but no responsible physician would
withhold his or her opinion or deny the information to
anyone.
Children’s Hospital Boston Experience
1988-2002
Mitral Atresia
There were 58 patients with mitral atresia and an adequate
aortic outflow. Of these 28 had pulmonary stenosis, 13 had
pulmonary atresia, 5 had coarctation and 3 had total anom-
alous pulmonary venous return: 10 of these patients died.
Of the 21 pulmonary banding procedures, 12 were at our
hospital: among our 35 modified Fontan procedures there
were 3 deaths (9%), much improved compared to the 33%
of the 1973-1987 era.

MITRAL ATRESIA WITH NORMAL

AORTIC ROOT

Patients with mitral atresia and a normal aortic outflow32

are not properly classified under the hypoplastic left heart
syndrome; yet, by convention, this lesion complex appears
in the hypoplastic left ventricle file of the Children’s
Hospital Boston.

Prevalence
In the period from January 1988 to January 2002, 58 chil-
dren with mitral atresia and a normal aortic root were seen
at Children’s Hospital Boston. Of these, 41 had pulmonary
outflow obstruction due to pulmonary atresia in 13 and
pulmonary stenosis in 28. Coarctation of the aorta was pres-
ent in five, and total anomalous pulmonary venous return in
Survival curves showing considerable improvement in
three. Of the 58 patients, 10 have died and 35 have under-
1988-2002 group compared to 1973-1987 patients.
gone a Fontan procedure with 3 deaths (Exhibit 41-2).

Pathophysiology
Mitral atresia with a good-sized left ventricle is associ-
ated with a ventricular septal defect if the aorta arises from
the left ventricle. Sometimes the tricuspid valve is strad-
dling. There may be a double-outlet right ventricle with
the left ventricle being a blind pouch, or the ventricles may
be inverted, with the physiology being that of tricuspid
atresia. The great vessels may be transposed, the aorta aris-
ing from the right ventricle. A patent and incompetent fora-
men ovale is usually present, although egress from the left
atrium may take other routes (i.e., via a sinoseptal defect).
Often the orifice of the foramen ovale is small enough to
raise left atrial pressure and the atrial septum is thickened.
Most of our patients are classified as having a double-outlet
right ventricle, the aorta arising from the right ventricle.
Others use different terminology.33 Sometimes the aorta
arises from the left ventricle, in which case the size of
the ventricular defect may have important hemodynamic
consequences. Roughly half of these patients have
pulmonary stenosis and occasionally one sees a patient
who has pulmonary valve atresia. Coarctation of the aorta
was noted in about 10% of our patients. Others have
reported similar experience.34,35
Clinical Manifestations
All of these patients are cyanotic, although among those
with excessive pulmonary blood flow this may not be appar-
ent at first. Tachypnea is common because left atrial pres-
sures are often high, causing pulmonary edema, or there
is excessive pulmonary blood flow. When there is limited
pulmonary blood flow because of pulmonary stenosis or
atresia, cyanosis may be the chief complaint. Most are
 Hypoplastic Left Heart Syndrome, Mitral Atresia, and Aortic Atresia
symptomatic in the first weeks of life with tachypnea or
cyanosis.
Electrocardiography
In most cases, the electrocardiogram shows right ventric-
ular hypertrophy.
Chest Radiography
Chest radiograph shows that the heart size is variably
enlarged, depending on the amount of pulmonary blood
flow, and the pulmonary vasculature may be prominent
because of excess flow or may be diminished because of
pulmonary stenosis. There may be evidence of pulmonary
edema. Pulmonary edema is possible in the presence of
pulmonary stenosis because the size of the foramen ovale
determines left atrial pressure, and it may be very small
even in the presence of normal or reduced amounts of
pulmonary flow.
Echocardiography
The detailed anatomy can be documented by two-
dimensional echocardiography using previously described
techniques (see Chapter 13).
Cardiac Catheterization
Cardiac catheterization may be important to the success-
ful management. If pulmonary artery flow, pressure, and
resistance cannot be assessed by noninvasive imaging, then
catheterization can measure these parameters. In addition,
relief of an obstructive interatrial septum, likely critical for
the development of the pulmonary vasculature, can be
accomplished.
Management
With excessive pulmonary blood flow, pulmonary artery
banding may be needed, or with diminished flow an arterial
shunt may be helpful.36 Enlargement of the atrial septal
defect should be considered in all patients, particularly if a
shunt procedure is being considered.11 Recent experience
with stent-augmented balloon septoplasty suggests that it
may have longer lasting palliation than balloon septostomy
alone. The goal is survival with anatomy and physiology
that satisfy the requirements for a Fontan procedure at a
later date (Exhibit 41-2).
AORTIC ATRESIA WITH NORMAL
LEFT VENTRICLE
Aortic atresia with right and left ventricles of functionally
normal capacity is an extremely rare anomaly and repair has
been reported.37
727
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