See discussions, stats, and author profiles for this publication at: https://www.researchgate.

net/publication/11531224

Hypoplastic left heart syndrome: diagnosis and management

Article  in  Hospital medicine (London, England: 1998) · February 2002

DOI: 10.12968/hosp.2002.63.1.1721 · Source: PubMed

CITATIONS READS

5 775

2 authors:

Rachel E Andrews Robert Michael Rhys Tulloh

Great Ormond Street Hospital for Children NHS Foundation Trust University Hospitals Bristol NHS Foundation Trust
24 PUBLICATIONS   460 CITATIONS    238 PUBLICATIONS   2,742 CITATIONS   

SEE PROFILE SEE PROFILE

Some of the authors of this publication are also working on these related projects:

Kawasaki disease in children View project

Kawasaki disease. BPSU Survey in the UK View project

All content following this page was uploaded by Robert Michael Rhys Tulloh on 24 June 2014.

The user has requested enhancement of the downloaded file.

 Hypoplastic Left Heart Syndrome: Diagnosis and Early Management
Frederick Jay Fricker
NeoReviews 2008;9;e253-e259
DOI: 10.1542/neo.9-6-e253

The online version of this article, along with updated information and services, is
located on the World Wide Web at:
http://neoreviews.aappublications.org/cgi/content/full/neoreviews;9/6/e253

NeoReviews is the official journal of the American Academy of Pediatrics. A monthly publication,
it has been published continuously since 2000. NeoReviews is owned, published, and trademarked
by the American Academy of Pediatrics, 141 Northwest Point Boulevard, Elk Grove Village,
Illinois, 60007. Copyright © 2008 by the American Academy of Pediatrics. All rights reserved.
Online ISSN: 1526-9906.

Downloaded from http://neoreviews.aappublications.org by JoDee Anderson on June 20, 2008

 Article cardiology

Hypoplastic Left Heart

Syndrome: Diagnosis and Early
Management
Frederick Jay Fricker,
Objectives After completing this article, readers should be able to:
MD*
1. Describe the morphology of hypoplastic left heart syndrome (HLHS).
2. Recognize clinical findings suggestive of patent ductus arteriosus-dependent systemic
Author Disclosure blood flow.
Dr Fricker has 3. Delineate initial postnatal management of HLHS.
disclosed no financial 4. Describe surgical palliation of HLHS.
relationships relevant
to this article. This
commentary does not
Abstract
Hypoplastic left heart syndrome (HLHS) is the only congenital heart lesion that
contain a discussion
requires the talents of the neonatologist, pediatric cardiologist, and cardiovascular
of an unapproved/ surgeon operating and communicating as a team to effect the desired outcome of
investigative use of a survival with normal neurodevelopment. Prenatal diagnosis, initial resuscitation, and
commercial preoperative management are key elements that allow the best opportunity for low
product/device. surgical morbidity and mortality in the affected infant. Physicians and nurses caring for
such infants must understand the physiology of oxygen delivery and the response of
the neonatal pulmonary and systemic vascular bed to interventions that affect the
balance between systemic and pulmonary blood flow. Outcomes with current surgical
management, including the Norwood procedure and the Sano modification, are
equivalent to those associated with the arterial switch procedure and repair of neonatal
tetralogy of Fallot. Families of infants born with HLHS should be encouraged by the
current results of palliation and long-term outcome.

Introduction
HLHS is a common, potentially lethal congenital heart defect that accounts for a
significant proportion of infant mortality from congenital heart disease in the first year after
birth. This defect has morphologic variability and accounts for 7% to 9% of all infants born
with congenital heart defects. Noonan and Nadas coined the term “hypoplastic left heart
syndrome” in 1958, but Lev described the defect nearly a decade earlier. The defect was
uniformly fatal until 25 years ago, when Norwood performed the first successful palliative
procedure. A number of earlier palliation attempts involved establishing stable systemic
blood flow and restricting pulmonary blood flow, but it was Norwood who persisted and
reported the first survival in early 1980. Surgical modifications by the recent generation of
pediatric congenital heart surgeons have resulted in excellent early survival after the
first-stage Norwood procedure. Paramount to surgical success are early diagnosis and
preoperative management strategies of the neonatologist and pediatric cardiologist. This
review emphasizes findings that create suspicion that an infant has ductus arteriosus-
dependent systemic blood flow and highlights strategies to balance systemic and pulmo-
nary blood flow until surgery is accomplished.

Morphology
The anatomic features of infants who have HLHS vary, but hypoplasia of the left ventricle
is a consistent finding. The classic phenotype is left ventricular hypoplasia associated with
mitral stenosis/atresia, aortic atresia, coarctation of the aorta, and an intact ventricular
septum (Figs. 1, 2, and 3). Variations include common atrioventricular septal defect with

*Chief of Pediatric Cardiology, University of Florida, Gainesville, Fla.

NeoReviews Vol.9 No.6 June 2008 e253

Downloaded from http://neoreviews.aappublications.org by JoDee Anderson on June 20, 2008
cardiology hypoplastic left heart disease

Figure 1. A cross-section of a heart specimen demonstrating

the key features of hypoplasia of the left heart, including
aortic atresia (A), mitral valve stenosis (MV), and large right Figure 3. Specimen demonstrating aortic atresia with tiny
heart. TVⴝtricuspid valve, PAⴝpulmonary valve, coronary ascending aorta (Ao) and the presence of discrete coarctation
arteriesⴝarrows. (arrow) related to insertion of the ductus arteriosus.
AAⴝaortic arch, DAⴝdescending aorta, PDAⴝpatent ductus
arteriosus, RAⴝright atrium.
a dominant right ventricle and hypoplasia of the left
ventricle. The ascending aorta and aortic arch have vary-
ing degrees of stenosis and hypoplasia (Fig. 3). The onary artery obstruction because the ascending aorta is
ascending aorta size is a risk factor for surgical palliation. the only gateway to the coronary circulation (Fig. 1).
Aortic atresia with less than 2 mm ascending aorta make Hypoplasia of the transverse aortic arch and isthmus
reconstruction of the ascending aorta vulnerable to cor- always is present, with an associated discrete coarctation

Figure 2. Heart specimens with degrees of left heart hypoplasia. Note the increased mass and small cavity of specimen A. In
specimen B, the right ventricle (RV) is large and apex-forming. Note the small mitral valve and left ventricular (LV) cavity size.

e254 NeoReviews Vol.9 No.6 June 2008

Downloaded from http://neoreviews.aappublications.org by JoDee Anderson on June 20, 2008
 cardiology hypoplastic left heart disease

(Fig. 3). An unrestricted interatrial communication is

critical to survival. If interatrial communication is intact
or restrictive, the infant will be in extremis shortly after
birth unless the left atrium is decompressed through the
levocardial vein (remnant of the left superior vena cava)
or through coronary artery sinusoids from the left ven-
tricle to the coronary sinus. The right ventricle and
tricuspid valve represent the systemic ventricle and atrio-
ventricular valve, and their functional status determines
the approach to palliation.

Diagnosis
Neonatologists and pediatric cardiologists have wit-
nessed the cardiovascular collapse of an infant who has
patent ductus arteriosus (PDA)-dependent systemic blood
flow. Recovery of end-organ function from the insult of
severe metabolic acidosis and hypoxemia is, at best, slow
and uncertain. Identifying affected infants in a newborn
nursery can be challenging because the ductus arteriosus
remains patent early after birth. Even though infants have
complete admixture of systemic and pulmonary venous
return, pulmonary blood flow relative to marginal systemic
blood flow is increased, resulting in oxygen saturation
greater than 85%. Cyanosis is difficult to recognize at this Figure 4. Anatomic heart specimen of aortic atresia demon-
level. However, certain clues can increase suspicion of the strating the course of blood flow from the main pulmonary
presence of a critical heart lesion. Hyperdynamic precordial artery (PA) through the patent ductus arteriosus (PDA) ret-
activity is a consistent finding that reflects right ventricular rograde into the tiny ascending aorta (double arrows),
volume and pressure overload. Decrease in amplitude of DAⴝdescending aorta, RAⴝright atrium.
peripheral pulses often is cited but is only evident after
ductal constriction in a symptomatic infant. The second
heart sound is single if aortic atresia is present. A heart the infant to the intrauterine state. Re-establishment of
murmur of tricuspid valve regurgitation or increased pul- PDA patency and securing the airway is the priority to
monary blood flow may be audible. re-establish systemic blood flow (Fig. 4). Prostaglandin
Newborn screening with pulse oximetry has been E1 (PGE1) is administered at 0.05 to 0.1 mcg/kg per
advocated. Oxygen saturations rarely are greater than minute. Because PGE1 can cause apnea initially, the
85% to 88% in affected infants, and decreased saturation neonatologist and transport physician should take pre-
is an indication for cardiology evaluation with echocar- cautions to secure the airway before transport.
diography. Oxygen saturation screening should be un- Balancing systemic and pulmonary blood flow to op-
dertaken in both the right arm (preductal saturation) and timize peripheral organ perfusion and function is para-
leg (postductal saturation). Electrocardiography (ECG) mount for successful transition to surgery. PGE1 can
and chest radiography are not adequate ancillary screen- decrease both pulmonary (PVR) and systemic vascular
ing methods if the neonatologist suspects a serious con- resistance (SVR); oxygen administration decreases PVR
genital heart lesion. Prenatal diagnosis avoids the early and increases SVR. Although oxygen administration
diagnostic and management problems incurred by af- while preparing the infant for surgery is potentially det-
fected infants and optimizes their outcome. rimental, administration during the resuscitation, stabi-
lization, and transport period can be beneficial. Main-
Initial Postnatal Management taining oxygen delivery to tissues can be approached by
The initial management of infants who have HLHs phys- either decreasing SVR through use of inodilators such as
iology focuses on safe transport and hemodynamic and milrinone or increasing PVR by manipulating the ambi-
respiratory stabilization. The principal goal is to return ent oxygen environment by controlled hypoxia (FiO2 of

NeoReviews Vol.9 No.6 June 2008 e255

Downloaded from http://neoreviews.aappublications.org by JoDee Anderson on June 20, 2008
cardiology hypoplastic left heart disease

100%
infant who has HLHS is necessary for survival. Restrictive
interatrial communication is analogous to pulmonary
85% venous obstruction because there is no exit from the left
atrium. Pulmonary venous obstruction results in pulmo-
nary edema, decreased lung compliance, and hypoxemia.
75%
Oxygen
Attempted high-risk interventional septostomy in the
Saturation
catheterization laboratory can be considered. Urgent
50% surgery in this clinical setting rarely has a successful
outcome.

1:1 2:1 3:1 HLHS Surgery

Qp/Qs Pulmonary blood/Systemic blood flow In 1980, Norwood and colleagues were the first to
Figure 5. Effect of increasing oxygen saturation on the ratio
describe neonatal palliation that eventually leads to the
of pulmonary blood flow to systemic blood flow. staged Fontan (atrial-to-pulmonary connection) ap-
proach for infants who have single-ventricle physiology.
The conventional Norwood procedure must provide un-
17% to 20%) or by hypoventilation resulting in hypercar- restricted systemic blood flow by reconstructing the aor-
bia. Milrinone is both an inotropic drug and an effective tic arch, a widely patent interatrial septum, and a source
systemic vasodilator agent (phosphodiesterase inhibitor) of pulmonary blood flow. Early favorable outcome de-
that is used in the preoperative management of infants pends on such preoperative variables as the size of the
ascending aorta (preferable situation is prograde flow
who have HLHS. One other point should be emphasized
through the ascending aorta) and good right ventricular
regarding oxygen administration. The diagnosis should
and tricuspid valve function.
be confirmed before discontinuing oxygen because a
Reconstruction of the ascending aorta and aortic arch
missed diagnosis of persistent pulmonary hypertension of
require incorporation of the main pulmonary artery and
the newborn is lethal.
patch augmentation of the aortic arch with homograft
The relationship between pulmonary blood flow and
material to relieve the associated coarctation completely.
systemic blood flow is assessed by clinical examination
The new source of pulmonary blood flow in the modified
and oxygen saturation/arterial blood gas determina-
Norwood operation was a 3.0 to 3.5 Gortex威 central
tions. The oxygen saturation trend is key to day-to-day
shunt between the right innominate artery and the right
management and to evaluating an acute change in the
pulmonary artery. Systemic-to-pulmonary shunt failure
infant’s clinical condition. Because HLHS is a complete and postoperative difficulty managing pulmonary blood
admixture lesion (complete mixing of systemic and pul- flow led to the resurgence of the Sano modification. This
monary venous return), the relative pulmonary blood modification uses a right ventricle (RV)-to-pulmonary
flow (QP)-to-systemic blood flow (QS) ratio is deter- artery (PA) conduit instead of a central systemic-to-
mined by assessing changes in systemic oxygen saturation pulmonary artery shunt. The RV-to-PA conduit results
through pulse oximetry or arterial blood gas changes. in higher systemic diastolic pressure and better coronary
A balanced QP/QS saturation is 75% QP/QS 1:1. Be- artery perfusion. A multicenter trial is evaluating the
cause PVR is lower than SVR, the oxygen saturation for central shunt versus Sano modification in terms of peri-
infant who has HLHS in a stable balanced hemodynamic operative and late morbidity and mortality. The other
state should range from 75% to 85%. As PVR decreases evolving area of study is the management of cerebral
and the QP/QS ratio increases, the oxygen saturation/ perfusion during aortic arch reconstruction. This opera-
arterial PO2 increases (Fig. 5). If PGE1 administration is tion is performed during a period of deep hypothermic
interrupted and the ductus arteriosus constricts, QS rel- circulatory arrest. Concern for long-term neurologic se-
ative to QP decreases, a marked increase in oxygen quelae has stimulated the development of techniques to
saturation and arterial PO2 occurs, and metabolic acidosis eliminate deep hypothermic circulatory arrest. Tech-
develops. Oxygen saturation falling below 70% should niques for maintaining continuous cerebral perfusion are
raise concern about lung atelectasis or restriction of the now part of intraoperative management.
interatrial communication causing a decrease in QP rel- Advances in critical care and postoperative manage-
ative to QS. Communication at the interatrial level in the ment have played major roles in improving outcomes.

e256 NeoReviews Vol.9 No.6 June 2008

Downloaded from http://neoreviews.aappublications.org by JoDee Anderson on June 20, 2008
 cardiology hypoplastic left heart disease

The availability of mechanical/oxygenation support flow, and factors controlling initial formation of the left
(extracorporeal membrane oxygenation) is mandatory in atrioventricular junction, have been inferred from chick
centers that perform such procedures. The most impor- model experiments. It is likely that multiple causes con-
tant factor is the availability of a multidisciplinary team tribute to HLHS.
around the clock for these complex patients. Prenatal diagnosis has had a major favorable impact
on both survival and neurologic outcome. In addition,
prenatal diagnosis affords the opportunity for counseling
HLHS Heart Transplant
The Norwood procedure is offered to most patients who with neonatology and cardiology. Finally, prenatal diag-
have HLHS. Neonatal heart transplant was pioneered by nosis has allowed attempts at in utero treatment of
Bailey and Loma Linda University for infants who have hypoplasia of the left ventricle by balloon dilatation of
HLHS. Although transplantation would be the preferred critical aortic stenosis. However, the group of infants
palliation, donor heart availability limits its use. Centers amenable to this treatment represent only a small subset
that recommended heart transplantation have reported a of those born with HLHS.
30% mortality rate among infants waiting for donor
hearts. This factor made it clear that the infants who have ACKNOWLEDGMENT. Morphology photographs are
HLHS and are good Norwood candidates should be
from the Van Mierop Collection at University of Florida.
referred for a single-ventricle surgical approach. Infants
Courtesy of Diane Spicer.
who have tiny ascending aortas or right ventricular dys-
function and severe atrioventricular valve regurgitation
should be referred for heart transplantation.
Suggested Reading
Alsoufi B, Bennetts J, Verma S, Caldarome CA. New developments
Comfort Care in the treatment of hypoplastic left heart syndrome. Pediatrics.
The offer of no intervention to a family for an infant who 2007;119:109 –117
is a candidate for single-ventricle palliation remains con- Bailey LL. Role of cardiac replacement in the neonate. J Heart
troversial. Although neonatologists and pediatric cardi- Transplant. 1985;4:506 –509
ologists review with families the diagnosis, prognosis, Bailey L, Concepcion W, Shattuck BS, Huang L. Method of heart
transplantation for treatment of hypoplastic left heart syndrome.
and potential long-term issues related to single-ventricle
J Thorac Cardiocasc Surg. 1986;92:1–5
palliation, it is the unusual family that chooses no inter- Bove EL, Lloyd TR. Staged reconstruction for hypoplastic left
vention. The current surgical outcomes for infants who heart syndrome: contemporary results. Ann Surg. 1996;224:
experience excellent hemodynamic repair and maintain 387–394
normal developmental landmarks makes it difficult not to Bradley SM, Atz AM. Postoperative management: the role of mixed
encourage families to pursue care in spite of an uncertain venous oxygen saturation monitoring. Semin Thorac Cardiovasc
Surg Pediatr Card Surg Annu. 2005;8:22–27
future.
Chrisant MR, Naftel DC, Drummond-Webb J, et al; Pediatric
Heart Transplant Study Group. Fate of infants with hypoplastic
left heart syndrome listed for cardiac transplantation: a multi-
Advances in Understanding and Treatment center study. J Heart Lung Transplant. 2005;24:576 –582
Although congenital heart disease remains the leading DeOliveria NC, Van Arsdell GS. Practical use of alpha blockade
cause of death from congenital malformations, advances strategy in the management of hypoplastic left heart syndrome
in neonatal surgery, accurate fetal diagnosis, and improv- following stage one palliation with Blalock Taussig shunt. Semin
ing neonatal management have resulted in increased Thorac Cardiovasc Surg Pediatr Card Surg Annu. 2004;7:
11–15,
survival. In fact, there are now more patients who have
Ghanayem NS, Cava JR, Jaquiss RD, Tweddell JS. Home monitor-
congenital heart disease older than age 18 years than ing of infants after stage one palliation for hypoplastic left heart
there are younger patients. HLHS causes significant syndrome. Semin Thorac Cardiovasc Surg Pediatr Card Surg
mortality from birth to age 3 years, when all of the Annu. 2004;7:32–38
palliative procedures are completed. The cause of HLHS Jenkins PC, Flanagan MF, Jenkins KJ. Survival analysis and risk
still has not been identified. The condition is reported in factors for mortality in transplantation and staged surgery for
hypoplastic left heart syndrome. J Am Coll Cardiol. 2000;36:
families, and the diagnosis is associated with other ge-
1178 –1185
netic chromosomal abnormalities, including Turner syn- Liske MR, Greeley CS, Law DJ, Reich JD, et al. Report of the
drome. Hemodynamic causes, including abnormalities Tennessee Task Force on Screening Newborn Infants for critical
of atrial septum development, intrauterine cardiac blood congenital heart disease. Pediatrics. 2006;118:e1250 – e1256

NeoReviews Vol.9 No.6 June 2008 e257

Downloaded from http://neoreviews.aappublications.org by JoDee Anderson on June 20, 2008
cardiology hypoplastic left heart disease

Mahle WT, Spray TL, Gaynor JW, Clark BJ. Unexpected death Reich JD, Miller S, Brogdon B, et al. The use of pulse oximetry to
after reconstructive surgery for hypoplastic left heart syndrome. detect congenital heart disease. J Pediatr. 2003;142:268 –272
Ann Thorac Surg. 1997;71:61– 65 Sano S, Ishino K, Kawada M, Honjo O. Right ventricle-pulmonary
Mahle WT, Wernovsky G. Neurodevelopmental outcomes in artery shunt in first stage palliation of hypoplastic left heart
hypoplastic left heart syndrome. Semin Thorac Cardiovasc Surg syndrome. Semin Thorac Cardiovasc Surg Pediatr Card Surg
Pediatr Card Surg Annu. 2004;127:490 – 497 Annu. 2004;7:22–31
Marshall AC, Tworetzky W, Bergersen L, et al. Aortic valvuloplasty Sedmera D, Cook AC, Shirali G, McQuinn TC. Current issues and
in the fetus: technical characteristics of successful balloon dila- perspectives in hypoplasia of the left heart. Cardiol Young.
2005;15:56 –72
tation. J Pediatr. 2005;147:535–539
Tabbutt S, Ramamoorthy C, Montenegro LM. Impact of inspired
Norwood WI, Kirklin JK, Sanders SP. Hypoplastic left heart syn-
gas mixtures on preoperative management of infants with
drome: experience with palliative surgery. Am J Cardiol. 1980;
hypoplastic left heart syndrome during controlled ventilation.
45:87–91
Circulation. 2001;104(suppl 1):I159 –I164
Norwood WI, Lang P, Hansen DD. Physiologic repair of aortic Tworetzky W, McElhinney DB, Reddy VM, Hanley FL, Silverman
atresia-hypoplastic left heart syndrome. N Engl J Med. 1983; NH. Improved surgical outcome after fetal diagnosis of hypo-
308:23–26 plastic left heart syndrome. Circulation. 2001;103:1269 –1273
Pigula FA, Nemoto EM, Griffith BP, Siewers RD. Regional low- Vlahos AP, Lock JE, McElhinney DB, van der Velde ME. Hypo-
flow perfusion provides cerebral circulatory support during neo- plastic left heart syndrome with intact or highly restrictive atrial
natal aortic arch reconstruction. J Thorac Cardiovasc Surg. septum: outcome after neonatal transcatheter atrial septostomy.
2000;119:331–339 Circulation. 2004;109:2326 –2330

NeoReviews Quiz
5. The classic phenotype of hypoplastic left heart syndrome (HLHS) includes left ventricular hypoplasia
associated with mitral stenosis/atresia, aortic atresia, coarctation of aorta, and an intact ventricular septum.
Of the following, the most accurate statement regarding HLHS is that:
A. An intact interatrial septum is critical for survival.
B. Functional status of the right ventricle determines the approach to palliation.
C. HLHS accounts for approximately 25% of all cases of congenital heart disease.
D. Left ventricular communication with coronary sinusoids worsens the prognosis.
E. The size of the descending aorta is a risk factor for surgical palliation.

6. You suspect that a 6-hour-old term newborn has HLHS. Of the following, the most consistent clinical
finding in this infant would be:
A. Decreased amplitude of peripheral pulses.
B. Ductal systolic heart murmur.
C. Hyperdynamic precordial activity.
D. Severe cyanosis.
E. Split second heart sound.

e258 NeoReviews Vol.9 No.6 June 2008

Downloaded from http://neoreviews.aappublications.org by JoDee Anderson on June 20, 2008
 cardiology hypoplastic left heart disease

7. In the initial stabilization of a newborn who has HLHS, attention to balancing the systemic and pulmonary
blood flow is critical for successful transition to surgery. Of the following, the initial step in the
management of HLHS is the administration of:
A. Inhaled nitric oxide.
B. Mechanical hyperventilation.
C. Phosphodiesterase inhibitor milrinone.
D. Prostaglandin E1 infusion.
E. Subatmospheric oxygen.

8. Management of HLHS has evolved over the last 3 decades. Of the following, the current approach to
management of HLHS in most infants is:
A. Blalock-Taussig shunt.
B. Comfort care.
C. Glenn shunt procedure.
D. Neonatal heart transplantation.
E. Norwood palliation.

NeoReviews Vol.9 No.6 June 2008 e259

Downloaded from http://neoreviews.aappublications.org by JoDee Anderson on June 20, 2008
 Hypoplastic Left Heart Syndrome: Diagnosis and Early Management
Frederick Jay Fricker
NeoReviews 2008;9;e253-e259
DOI: 10.1542/neo.9-6-e253

Updated Information including high-resolution figures, can be found at:

& Services http://neoreviews.aappublications.org/cgi/content/full/neoreview
s;9/6/e253
Permissions & Licensing Information about reproducing this article in parts (figures,
tables) or in its entirety can be found online at:
http://neoreviews.aappublications.org/misc/Permissions.shtml
Reprints Information about ordering reprints can be found online:
http://neoreviews.aappublications.org/misc/reprints.shtml

Downloaded from http://neoreviews.aappublications.org by JoDee Anderson on June 20, 2008

View publication stats