Pediatr Surg Int
DOI 10.1007/s00383-017-4062-y
REVIEW ARTICLE
A review of congenital lung malformations with a simplified
classification system for clinical and research use
Michael Seear1 · Jennifer Townsend1 · Amy Hoepker1 · Douglas Jamieson2 ·
Deborah McFadden3 · Patrick Daigneault4 · William Glomb5 
Accepted: 10 January 2017
© Springer-Verlag Berlin Heidelberg 2017
Abstract  findings had greater clinical relevance: Group 1—Congeni-
Purpose  Congenital lung abnormalities are rare malfor-
mations increasingly detected early by prenatal ultrasound.
Whether management of these frequently asymptomatic
lesions should be surgical or conservative is an unresolved
issue. The necessary prospective studies are limited by
the absence of a widely accepted practical classification
system. Our aim was to develop a simple, clinically rel-
evant system for classifying and studying congenital lung
abnormalities.
Materials and methods  We based our proposed grouping
on a detailed analysis of clinical, radiological, and histo-
logical data from well-documented cases, plus an extensive
review of the literature.
Results  The existence of hybrid lesions and common his-
tological findings suggested a unified embryological mech-
anism—possibly obstruction of developing airways with
distal dysplasia. Malformations could be classified by their
anatomical and pathological findings; however, a system
based on the prenatal ultrasound plus initial chest X-ray
* Michael Seear
mseear@cw.bc.ca
1 CCAM), intralobar sequestration (ILS), bronchial atresia
Divisions of Respiratory Medicine, British Columbia’s
Children’s Hospital, Room 1C 31, 4480 Oak Street,
Vancouver, BC V6H 3V4, Canada
2
Divisions of Radiology, British Columbia’s Children’s
Hospital, Vancouver, Canada
3
Divisions of Pathology, British Columbia’s Children’s
Hospital, Vancouver, Canada
4
Division of Pediatric Respirology, Centre Mere‑Enfant du
CHUQ, Universite Laval, Quebec, Canada
5
Division of Pediatric Pulmonology, University of Texas
Medical Branch, Austin, USA
tal solid/cystic lung malformation, Group 2—Congenital
hyperlucent lobe, Group 3—Congenital small lung.
Conclusions  Pathological classification is academically
important but is unnecessarily complex for clinical and
research use. Our simple radiological-based system allows
unambiguous comparison between the results of different
studies and also guides the choice of necessary investiga-
tions specific to each group.
Keywords  Congenital lung malformations · Cystic
adenomatoid malformation · Sequestration · Hypoplastic
lung · Congenital lobar emphysema
Introduction
Congenital lung abnormalities include a wide range of
disorders of the large airways, lung tissue, and pulmonary
blood vessels [1]. In this review, we follow common prac-
tice and use the term to cover focal developmental anoma-
lies of the lung that often present to the pediatric surgeon
during infancy [2]. The following are included: congeni-
tal pulmonary airway malformation (CPAM, previously
(BA), lobar agenesis (LA), bronchogenic cyst (BC), extra-
lobar sequestration (ELS), congenital lobar emphysema
(CLE), and poly alveolar lobe (PL).
There are no reliable data on their frequency but they
are all rare. The incidence of CPAMs (usually said to be
the commonest of the group) is estimated at 1 in 25 to
35,000 live births by a Canadian study [3]. They are com-
plex conditions and have attracted a broad literature out of
proportion to their rarity. Unfortunately, congenital lung
abnormalities are viewed differently through the eyes of
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pathologists [4], radiologists [5], obstetricians [6], pediatri-
cians [7], and surgeons. The result has been a confusion of
classification systems [4, 6, 7], which has prompted calls
for a practical alternative based on clearly defined criteria
[7].
Universal access to prenatal ultrasound scans has made
this lack of clarity more important than a simple academic
debate [8]. Many congenital lung abnormalities detected
by early ultrasound will have regressed significantly by the
time of birth [3, 9]—opinions vary widely about the need
for surgery in such symptomless infants [10]. Using data
from eight well-documented cases plus a detailed literature
review, we searched for distinguishing features that could
be used to define a clinically relevant classification system
to support the multicenter studies needed to establish the
best management for these children.
Materials and methods
Our review was based on a detailed analysis of the clinical,
pathological, and radiological data, in eight fully investi-
gated cases, plus the available relevant literature. The study
group consisted of pediatric subspecialists from diverse
backgrounds (radiology, pathology, respirology, and inten-
sive care). Suitable examples were collected from the res-
piratory divisions of three pediatric referral centers (British
Columbia’s Children’s Hospital, Vancouver, Canada, Cen-
tre Mere-Enfant, Quebec City, Canada, University of Texas
Medical Branch, Austin, USA). Complete radiological data
were available for each case plus histopathology slides
from those that had undergone surgery. Details of the cases
are given below.
Congenital pulmonary airway malformation
This is a case report of a female child, born by unevent-
ful 38-week elective Cesarian section. Prenatal ultrasound
Fig. 1  Left chest X-ray showing multiloculated lucent area in the
right hemithorax. Middle CT angiogram reconstruction showing mul-
ticystic lesion consistent with a congenital pulmonary airway mal-
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Pediatr Surg Int
showed large cystic lung lesion occupying 50% of the right
hemithorax —confirmed by postnatal radiological investi-
gations (Fig. 1). The lesion was surgically resected at day
15 of life and was discharged home on day 30. The child
subsequently showed normal growth and development.
Histology was compatible with the preoperative diagnosis
of CPAM.
Lung agenesis
A case report of a male child, born after pregnancy compli-
cated by polyhydramnios but normal 39-week delivery, is
presented. At 20 weeks’ gestation, the ultrasound suggested
pulmonary and cardiac malformations. Postnatal investiga-
tions revealed agenesis of the left lung, absent left pulmo-
nary artery (Fig. 2) plus total anomalous pulmonary venous
return and an atrial septal defect. Uneventful cardiac repair
occurred at 3 weeks of age, followed by three subsequent
readmissions for respiratory tract infections. The extra
thumb on the right hand was removed at 11 months. Nor-
mal growth and development was observed at 16 months.
Intralobar sequestration
This is a case study of a female child, born after normal
pregnancy and delivery. At 20 weeks’ gestation, the ultra-
sound showed solid/cystic lung abnormality in the left
lower lobe. Her postnatal CT angiogram revealed an aor-
tic collateral supply and drainage to the pulmonary venous
system (Fig.  3). The child then showed normal growth
and development during subsequent follow-ups. The child
underwent uneventful surgery at 26 months. Her histo-
logical examination showed a cystically dilated bronchial
structure with inspissated secretions. The vasculature was
abnormal with prominent arterioles and thickened pulmo-
nary veins in keeping with sequestration.
formation. No anomalous vascular connections present. Right cystic
lung parenchyma with columnar ‘hobnail’ epithelium
Pediatr Surg Int

Fig. 2  Left chest X-ray show-

ing no visible aerated lung on
the left with rib crowding and
significant shift of the medi-
astinal structures. Right CT
angiogram taken at 14 months,
after cardiac surgery for ASD
closure, confirms the absence
of left lung and left pulmonary
artery. Right lung shows normal
vascular and bronchial anatomy.
Anterior sternal suture visible

Fig. 3  Left CT scan demonstrates partially cystic dysplastic lung tis- pulmonary vein in keeping with the vascular anatomy of an intralobar
sue in the left lower lobe. Middle 3D vascular reconstruction shows sequestration. Right abnormal pulmonary vasculature and inspissated
arterial supply from the aorta and venous drainage to the left inferior bronchiolar secretions

Bronchial atresia

We present herein the case report of a male child who was

born after normal pregnancy and delivery. Left lung cyst
was noted on 20-week ultrasound, which initially was large,
but it decreased in size during uneventful delivery. Post-
natal CT angiogram (Fig.  4) showed two fluid-filled cysts
in the left upper lobe, each with distal hyperinflation. The
larger cyst clearly had a proximal atretic bronchus compat-
ible with bronchial atresia. Surgery was considered unnec-
essary. Normal growth and development was observed at 2
years.

Bronchogenic cyst

This is a case report of a male child, born after normal

pregnancy and delivery. Large posterior mediastinal mass
was noted as an incidental finding on CXR taken at 18
months for a flu-like illness. There were no preceding res-
piratory problems. MRI (Fig. 5) confirmed large fluid-filled
Fig. 4  Coronal image from a reconstructed CT chest image demon-
strates air and mucous in an obstructed left upper lobe bronchus with
associated peripheral hyperinflated lung. A second smaller lesion is
present inferiorly. Both are consistent with bronchial atresia

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Fig. 5  Left chest X-ray dem-
onstrates a large homogenous
posterior mediastinal opacity.
Right a heavily T2-weighted
coronal MRI sequence confirms
a fluid-filled cyst, subsequently
shown to be bronchogenic on
histological exam
cyst that was removed uneventfully. Histology confirmed
the surgical diagnosis of bronchogenic cyst.
Extralobar sequestration
This is a case report of a Female child, born after normal
pregnancy and delivery. Prenatal ultrasound at 23 weeks
revealed echogenic mass in the left lung with arterial sup-
ply from the descending aorta. The child was discharged
home in good condition at day 3. A CT angiogram at 4
months showed aortic arterial supply with venous drain-
age through the azygous vein compatible with extralobar
sequestration (Fig.  6). Uneventful surgery was performed
at 18 months. Her pathological reports showed abnor-
mal bronchiolar development and hypertensive vascular
changes reflecting the effects of systemic vascularization.
Fig. 6  Left coronal view from a reconstructed CT angiogram dem-
onstrates dysplastic, partially cystic lung in the medial part of the left
lower lobe. Middle 3D vascular reconstruction demonstrates two sys-
temic arterial supplies from the thoracic aorta and prominent venous
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Pediatr Surg Int
Mixed lesion, abnormal foregut bud
This is a case report of a male child, twin A, born after
an uncomplicated term pregnancy and delivery. Early
CXR reported as showing a small cyst in the left lower
lobe. A CT angiogram at 4 months unexpectedly revealed
three abnormal areas—a fluid-filled cyst at the left hilar
level, a more solid area at the left costophrenic angle fed
by an aberrant vessel from the celiac axis, plus a cystic
area in the left lower lobe (Fig. 7). The child had an une-
ventful left lower and lingular lobectomy. Pathological
and vascular anatomical reports showed a mixed lesion
that included a bronchogenic cyst at the hilar level plus
an extralobar sequestration and a CCAM within the left
lower lobe.
drainage into the azygous system and superior vena cava, typical of
the vascular anatomy of an extralobar sequestration. Right pulmonary
hypertensive vascular changes with intra-alveolar hemorrhage
Pediatr Surg Int
Fig. 7  Three separate images from a single CT study. Left a fluid-
filled cyst at the level of the left hilum, histologically shown to be a
bronchogenic cyst. Middle a multiloculated cystic structure in the left
lower lobe subsequently shown to be a CCAM. Right an enhancing
Congenital lobar emphysema
This is a case report of a female child born after a normal
term pregnancy. The child was intubated following deliv-
ery because of respiratory distress and was extubated at day
4 and put on CPAP, and then was re-intubated following
deterioration. Radiological investigation (Fig.  8) revealed
hyperinflated right middle lobe with significant mediastinal
displacement to the left one. She had an uneventful right
middle lobectomy on day 26 of life and was discharged on
day 36. Pathology was reported as showing polyalveolar
lobe and bronchial cartilage deficiency consistent with con-
genital lobar emphysema.
Results
Etiology of congenital cystic lung malformations
We found that the presence of mixed lesions, containing
more than one congenital anomaly (case 7), combined with
similarities in histological findings between supposedly
Fig. 8  Left chest X-ray shows
hyperinflated area of lung in
the right middle lobe with
significant mass effect. Right
CT scan again demonstrates a
hyperinflated right middle lobe
with compression of the left
lung and shift of the mediasti-
num. Subsequent pathology is
consistent with congenital lobar
emphysema
soft tissue mass in the middle part of the left lower lobe subsequently
shown to be a sequestration, with an aberrant arterial supply from
celiac axis confirmed by CT angiogram
different lesions (cases 1 and 3), and supported the long-
held suggestion that congenital lung abnormalities are
part of a continuum of developmental abnormalities rather
than being separate entities [11]. While Bush rightly
warns against unsupported embryological speculation [7],
this theory was first raised over 30 years ago [12] and has
recently been fully elaborated by Langston [4].
Normal lung development depends on a complex inter-
action between the developing epithelial lung bud and
its surrounding mesenchyme [13, 14]. Inhibition of this
sequence by infection, vascular interruption, or other form
of obstruction to the developing airway has frequently been
suggested as a fundamental unifying mechanism behind the
development of congenital lung malformations [15, 16].
Based on this proposed mechanism, abnormalities can be
classified pathologically by two variables: firstly, by the
degree and timing of developing airway obstruction (com-
plete with distal dysplasia or partial with distal air trap-
ping) and secondly by the origin of the foregut airway bud
(normal or ectopic).
Using this argument, early complete occlusion would
lead to lung or lobar agenesis, while later occlusion
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would result in the more localized distal dysplasia com-
monly shared by CCAM, ILS, and BA. Partial obstruc-
tion to the developing airway would lead to the distal air
trapping and dysplasia found in CLE and PL. The same
basic mechanism applies to BC and ELS except that their
foregut airway buds arise ectopically—sometimes even
below the diaphragm.
Simplified classification of congenital lung
abnormalities
With access to prenatal ultrasound, most lung abnormali-
ties are now detected prior to birth. To be clinically rele-
vant, the classification of these disorders, at presentation,
should be based on the information immediately available
to the clinician. In the early stages, this will usually be
limited to the results of clinical examination, prenatal
ultrasound, and the first chest radiographs. Based on a
system suggested by Bush [7], we found that congenital
lung abnormalities could usefully be divided into three
management groups on the basis of their initial radio-
graphic results: (1) congenital solid/cystic lung abnor-
mality, (2) congenital hyperlucent lobe, and (3) congeni-
tal small lung (Table 1).
This descriptive system avoids archaic terminology
and does not require surgical pathology investigations.
Subdividing these three major group categories into
named variants produces no added insights into manag-
ing the abnormality, at the risk of adding nothing but a
confusion of extra terms. The system is simple and easily
applied. Apart from providing a standardized diagnostic
system for joint research studies, it also has clinical value
since it provides guidance for the extra investigations
needed that are specific to each group. Currently used
terms are listed under this new system in Table 1.
Table 1  Simplified classification of congenital lung malformations
Group 1 (Congenital solid/cystic lung malformation)
 Congenital pulmonary airway malformation
 Intra and extra lobar sequestrations
 Bronchial atresia
 Bronchogenic cyst
 Mixed malformations
Group 2 (Congenital hyperlucent lobe)
 Congenital lobar emphysema
 Polyalveolar lobe
Group 3 (Congenital small lung)
 Lung/lobar agenesis
 Pulmonary hypoplasia associations
Simplified classification of congenital lung abnormalities based only
on the findings of the prenatal ultrasound plus initial chest X-ray
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Pediatr Surg Int
Discussion
The widespread use of antenatal ultrasound screening has
allowed the early detection of congenital lung abnormali-
ties that, in the past, would often not have been diagnosed
unless they developed infectious or mechanical complica-
tions later in life [6]. The best management of these fre-
quently asymptomatic lesions has not yet been clearly
established [9, 10, 17]. These are all rare conditions and
hence research needs to be based on multicenter studies.
Our aim has been to establish a clinically relevant, eas-
ily defined classification system upon which such studies
can be based [17]. The system is based on the results of
a prenatal ultrasound plus a postnatal chest radiograph so
is intended for areas where these investigations are easily
available.
Although the exact pathogenesis of lung malformations
has not been established [14], frequent reports of mixed
lesions [18] and histological similarities between differ-
ent abnormalities [11] suggest that they share a common
embryological mechanism. The commonly noted presence
of bronchial atresia supports the theory that a localized
insult damages the developing airway and inhibits nor-
mal epithelial–mesenchymal interaction [16] distal to that
injury. The final result depends on the degree and timing
of the initial injury to the foregut bud. This malformation
sequence has been well defined by Langston [4].
While a classification based on the pathology of surgical
samples has some academic value, its use for clinicians is
limited. Apart from the confusion caused by archaic terms
such as intra- and extralobar sequestration, surgical deci-
sions cannot be based on a system that relies on histology
taken after surgery has been performed. Based on a call by
Bush for a more clinically relevant method of defining con-
genital lung abnormalities [7], we propose expanding his
suggestion by grouping them using the only information
initially available—prenatal ultrasound findings plus the
first chest X rays (Table  1). This simple method provides
practical guidance in choosing the specific investigations
for each group based on their most common associated
complications and causes.
Our classification into three groups, based on easily
observed radiological findings, is simple and serves a use-
ful clinical purpose by guiding the necessary initial inves-
tigations. For example, a solid–cystic mass found on pre-
natal ultrasound examination would be defined as a Group
1 malformation (Table  1). There is no further clinical
information to be gained by subclassifying it into named
variants. All masses within this group may have associ-
ated arterial or venous drainage abnormalities and, rarely,
might also retain a primitive foregut connection. In most
cases, a thoracic ultrasound is sufficient to rule out major
vascular abnormalities, although small accessory vessels
Pediatr Surg Int
arising below the diaphragm can be missed because of
signal obstruction from aerated lung. If surgery is not an
issue then ultrasound would likely be sufficient. However,
if surgery is considered and the surgeon wishes to have the
best chance of detecting potential complications then a CT
angiogram allows better discrimination. The extra risks
from sedation and the use of contrast would need to be
assessed on an individual basis.
Similarly, the presumed common etiology for Group 2
lesions is partial airway obstruction with distal air trapping
[19]. For this group, the initial investigation should include
CT scan and bronchoscopy to rule out intrinsic or extrinsic
causes of a flap-valve-type obstruction. The abnormalities
in Group 3 are more of a mixed bag. While lung and lobar
agenesis are likely due to an early insult to the lung bud,
pulmonary hypoplasia is more commonly the secondary
result of a wide range of disorders [20]. This group should
be investigated carefully because of the high chance of
coexisting anomalies.
While there is a general consensus that infants with
congenital lung malformations, who have respiratory dis-
tress, should undergo surgery [8], there is no clear agree-
ment on the best management of symptomless children
whose abnormalities were diagnosed incidentally by prena-
tal ultrasound [9, 21]. We hope that our simplified clinical
classification system will help to guide the initial investi-
gations and also allow unambiguous comparison of results
between the necessary prospective studies of these interest-
ing abnormalities.
Conclusions
Our suggested classification system for congenital lung
abnormalities is simple and based only on the data avail-
able to the surgeon at time of initial presentation. It avoids
unsupported embryological theories and confusing archaic
terminology. The simple grouping guides the choice of ini-
tial investigations and also provides a common set of clini-
cal definitions that allow comparison of outcomes between
the results of different studies.
Acknowledgements  We would like to thank Dr Geoffrey Blair for
his help with the development of this manuscript.
Compliance with ethical standards 
Conflict of interest  None of the seven authors has personal or finan-
cial conflicts of interest with any aspect of the research study.
Ethical approval  The manuscript is based on the analysis of data
from eight clinical cases and a review of relevant studies published in
medical journals, all of which followed conventional rules of patient
confidentiality. No individuals were identifiable, no human subjects
were directly involved and no treatments were administered. Given
these study conditions, our Institutional and University research ethics
committees waived the need for ethical approval.
Funding source  No research funding was used. Costs were covered
by the Divisional operating budget.
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