Dr.Rajan.

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Introduction
Embryology of lung development
Classification
Individual anomalies
 Introduction
Developmental anomalies of the lung are usually
detected in the neonatal period and in early
childhood
Some are not encountered until later childhood
or adulthood.
Some can be confused with acquired lung
abnormalities.
An understanding of their imaging features
& presentation are important for the physician.
 Embryology
 Intrauterine development: Embryonic, pseudoglandular
canalicular & saccular (alveolar).

 26th day gestation - Ventral diverticulum of the foregut

 Next 2 days, the right and left lung buds arise from this
outpouching

 Respiratory portion of the gut becomes separated from the

esophageal portion by tracheoesophageal septum.

 Lung buds elongate into primary lung sacs & the 5 lobar
bronchi appear.( Upto 5th week – Embryonic phase)
 Embryology contd
5 lobar bronchi branch in a dichotomous fashion
By 16th week, virtually all of the conducting airways are
present.
Airways are blind tubules lined by columnar or cuboidal
epithelium
– Pseudoglandular (5 -16 th week)
Canalicular period (17th to 25th–28th weeks)
Saccular (alveolar) period – Alveoli demonstrated as early
as 30 weeks gestation
Final period of normal intrauterine lung development
from 36 weeks to term - Prolific development of alveoli.

Postnatal period - Alveolar development continues

CLASSIFICATION
 TRACHEAL ATRESIA
Absence of whole or part of trachea
Type-1 : proximal trachea deficient with distal
tracheo-oesophagal fistula
Type-2 : whole trachea absent. Main bronchi join
midline, communicate with oesophagus by single
fistula
Type-3 : Rt. And Lt. bronchi join oesophagus
independently
 TRACHEO-OESOPHAGEAL FISTULA
Oesophageal atresia with fistula between trachea and
distal oesophagus-more common
Assoc. polyhydramnios
Rx-tie off fistula and achieve primary repair of
oesophagus
H- Type fistula -5 to 8% children with TOF
Trachea and oesophagus patent
Recurrent symptoms from infancy
Aspiration- choking with cough and cyanotic

episodes after feeding

Abdominal distention
Endoscopy
 TRACHEOMALACIA
Defined as tracheal wall softening due to an
abnormality of the cartilaginous ring and hypotonia of
the myoelastic elements
dynamic collapse leads to airway obstruction
Max. collapse –expiration
Affected portion-intrathoracic
 TRACHEOMALACIA

Primary tracheomalacia -caused by congenital

immaturity of the tracheal cartilage.
May persist in adult –idiopathic giant trachea,
“Mounier Kuhn Syn”.
Bronchiectasis, recurrent RTI common
Secondary-tracheostomy, ET intubation
Dyspnoea,cough, sputum , haemoptysis, wheezing
,stridor
 TRACHEOMALACIA

Direct bronchoscopic visualization-narrowing of

tracheal lumen during expiration
Dynamic 3 dimensional CT
Rx- treat assoc. infections
C PAP
Surgical intervention
 TRACHEAL STENOSIS
A rare disorder characterized by the presence of focal
or diffuse complete tracheal cartilage rings, resulting
in a fixed tracheal narrowing
May occur with other anomalies-Pulmonary sling
complex
50% focal, 30% generalized,20% funnel shaped
 TRACHEAL BRONCHUS

Aberrant bronchus that arises from Rt.tracheal wall above

carina
Result of additional tracheal outgrowth in embryonic life
Usually diagnosed accidently during bronchoscopy or
bronchography
Occassionally may cause recurrent pneumonia,
emphysema, atelectasis
Asymptomatic-no Rx.
Symptomatic- resection of aberrant bronchus and lobe it
supplies
 BRONCHIAL ATRESIA

Pulmonary anomaly of unknown aetiology in which a

segmental bronchus does not communicate with
central airways
Usually involves apico-posterior seg. –Lt. upper lobe
bronchi distal to the stenosis become filled with
mucus - bronchocele
The alveoli supplied by these bronchi are ventilated by
collateral pathways and show features of air-trapping,
Most cases-asymptomatic
Symptomatic cases-recurrent chest infections,
dyspnoea cough, wheeze
chest radiographic finding consists of a bronchocele,
seen as rounded, branching opacities radiating from
the hilum
distal lung is emphysematous and produces an area of
hyperlucency
Rx. – Asymptomatic – no Rx.
Symptomatic – surgical resection
 BRONCHOGENIC CYST
Due to abnormal budding of tracheo-bronchial tree
during course of development
May be central[mediastinal] or peripheral
[intraparenchymal , intralobar ]
Usually single
Lined by ciliated respiratory epithelium , contains
smooth muscle ,elastic tissue ,cartilage and muccous
glands
 BRONCHOGENIC CYST

Frequently asymptomatic
Symptoms caused by compression of trachea or
bronchi- dyspnoea ,cough ,stridor
Radiograph – well circumscribed round homogenous
opacity.
If fistulous communication present- air fluid level
may be visible
Rx.—surgical excision
 LUNG PARENCHYMAL ANOMALIES
Pulmonary agenesis
Pulmonary hypoplasia
Azygos lobe
Pulmonary sequestration
Congenital cystic adenomatoid malformation
Congenital lobar emphysema
 PULMONARY AGENESIS

Bronchus and lung are absent

Occurs during the embryogenic period
(approximately 4 weeks gestation)
 Etiology is unknown, although genetic, teratogenic,
and mechanical factors have been proposed
 associated congenital anomalies that involve the
cardiovascular (more frequent patent ductus
arteriosus and patent foramen ovale), gastrointestinal,
skeletal, and genitourinary systems
 PULMONARY AGENESIS

Bilateral lung agenesis – incompatible with life.

Unilateral – left lung commonly involved
Contralateral lung is normal in structure but has
compensatory hypertrophy.
 APLASIA
There is suppression of growth but rudimentary
bronchus, which ends in a blind pouch, with no
evidence of pulmonary vasculature or parenchyma.
 PULMONARY HYPOPLASIA
Defined as deficient or incomplete development of
the lungs
Aetiology : 1. factors directly or indirectly
compromising the thoracic space available for lung
growth such as a congenital diaphragmatic hernia
2. extrathoracic causes include oligohydramnios
decreased pulmonary vascular perfusion (tetralogy
of Fallot, unilateral absence of the pulmonary artery
 Most common manifestation is early respiratory
distress after birth, cyanosis, tachypnea, hypoxia,
hypercapnea, and acidosis.
Pneumothorax , pulmonary hypertension – serious
complications
common finding is a displacement of the
mediastinum to the side of the hypoplasia
 AZYGOS LOBE
Abnormality of lobulation
Really the medial portion of bifurcated Rt. Upper lobe
In this anomaly Rt. Upper lobe assumes bifid
configuration so that a portion of lung lies on either
side of venous arch formed by azygos vein
Incidental finding on X ray
No morbidity
 PULMONARY SEQUESTRATION
defined as an aberrant lung tissue mass that has no
normal connection with the bronchial tree or with the
pulmonary arteries
arterial blood supply arises from the systemic arteries,
usually the thoracic or abdominal aorta
venous drainage via the azygous system, the
pulmonary veins, or the inferior vena cava
 PULMONARY SEQUESTRATION

2 types – intralobar and extralobar

Intralobar- more common. Contained within
substance of normal lung tissue that completely
surrounds it
Most common site – post. basal seg. of left lower
lobe
Extralobar –located outside pleural coverings of
lung. Covered by its own pleural membrane
Most common site – between left lower lobe and
diaphragm
Intra lobar Extra lobar
 More common  Less common
 M:F - 1:1  4:1
 (MC site) Within post.basal  Between LL and diaphragm
segment
 60% LEFT  90% LEFT
 70%Thoracic aorta  40%
 Usually drains to pulmonary  To systemic veins
veins
 Rarely diagnosed in neonates
 Commonly

 Congenital defects uncommon

 Frequent

 Does’nt have it’s own pleura

 Have its own pleura
Intra lobar Extra lobar
 PULMONARY SEQUESTRATION -TREATMENT

Symptomatic – resection after controlling infection

Intralobar – segmental resection or lobectomy
Extralobar- resected without disturbing normal lung
 CONGENITAL CYSTIC ADENOMATOID MALFORMATION

Also called congenital bronchiectasis or

pulmonary cystic disease
May involve a part or whole of a lobe or an entire
lung
Affected lobe derives blood supply from
pulmonary circulation
Consists of a firm and airless mass of
disorganized pulmonary tissue that lacks properly
defined bronchial system , but consists of excess
of air passages resembling terminal bronchioles
 Stocker’s classification
Type 1: Single or multiple large cysts.
Most common form . Good prognosis
Type 2 : Multiple small cysts of less than 1 cm. in
diameter. Poor prognosis
Type 3 : Consists of solid airless mass of tissue .
Very poor prognosis.
50 %Of cases born prematurely. 25%Still born
Infection of cyst commonly occurs if infant survives
beyond neonatal period
Pneumothorax may occur, due to air trapping in
cystic spaces
Can be diagnosed antenatally by ultrasound
surgical resection of affected parts of lung can be
done
 CONGENITAL LOBAR EMPHYSEMA

 Characterized by progressive over distention of a

lobe, sometimes two lobes.
 Thought to result from a check-valve mechanism at
the bronchial level that causes progressive
hyperinflaction of the lung by allowing more air to
enter the involved area on inspiration than leaves on
expiration
most commonly affected lobe is the left upper lobe
Myers described three clinical types, classified
according to whether congenital lobar emphysema
becomes symptomatic in infancy (type I), in older
children (type II), or is an incidental finding in
asymptomatic patients (type III).
. Diagnosis is obtained by means of chest
radiography and CT, which show hyperinflation of
the segment or lobe affected
May be confused with pneumothorax or with a
simple lung cyst or acquired cyst. In congenital
lobar emphysema, there are bronchovascular
markings within the overdistended lobe, and the
adjacent lobe collapses are either caudal or
cephalad but not medial, toward the hilum
 VASCULAR ANOMALIES
Scimitar synd.
Absent pulmonary artery trunk
Absent unilateral pulmonary artery
Aberrant Rt. Subclavian artery
Aberrant Lt. subclavian artery
Double aortic arch
Rt. Aortic arch
Pul. Arterio venous malformations and
telangiectasia
 SCIMITAR SYNDROME
Also called venolobar syndrome and hypogenetic
lung syndrome
Syndrome consists of ipsilateral anomalous
pulmonary drainage of part or all of the right lung
into the inferior vena cava, hypoplasia of the right
lung , dextrorotation of the heart, hypoplasia or
other malformation of the right pulmonary artery,
and anomalous systemic arterial supply to the
lower lobe of the right lung from the
subdiaphragmatic aorta or its main branches .
Associations….
An anomalous systemic arterial supply.
Lung hypoplasia.
Cardiac dextroposition
Diaphragmatic abnormalities.
Familial; autosomal dominant.
Usually asymptomatic.
 Pulmonary AV malformations.
These lesions, although sometimes categorized as
tumours, contain no neoplastic cells and are infact
developmental anomalies in which there are
persistent vascular communications between arteries
and veins with in the lung that effectively bypass parts
of the normal pulmonary capillary bed.
95% AV malformations derive their blood supply
from pulmonary artery.. Others systemic
Majority in women
Majority single lesions
10% B/L
Usually closely related to the visceral pluera
70% LL
 Pulmonary Telangiectasia
Results if there is a fistulous communication between
a peripheral arteriole and a venule.
If in large numbers :pulmonary Telangiectasia.
50 – 60% Osler-Rendu-Weber syndrome.
 Clinical features
 Discrete AV malformations : usually after 3rd decade.
 Hereditary hemorrhagic Telangiectasia : manifests at
puberty or later.
 Syndrome of pulmonary Telangiectasia : childhood.

More than ½ asymptomatic at diagnosis.

Symptomatic if the radiologic diameter >2 cm
Red lesions over skin, mucosal surfaces 2-3 mm ,blanch on
pressure, may bleed.
May present as dyspnoea +/-cyanosis clubbing .
 Complications.
Heamorrhage
Pneumothorax.
Secondary polycythemia.
Systemic arterial hypoxemia.
TIA.
CVA-embolisation ,thrombosis, heamorrhage
Cerebral abscesses.
 Radiology .
As one or more rounded lobulated or tortuous
opacity, frequently occupying the periphery of lower
lung fields +/- feeding or draining vessels.
Size vary with intra thoracic pressure.
DD’s :metastasis, pulmonary fibrosis.
CXR,CT, Pulmonary angiography, Aortography, may
be required.
 Treatment.
Surgery .
Local resection with ligation of afferant and efferent
vessels.
+/- segmental resection or lobectomy.
Occlusion devices.
 Other variant syndromes…
Drainage of R lung to SVC, azygous or R innominate
vein.
Drainage of L lung to a L sided SVC.
Drainage of pulmonary veins to coronary sinus.
Drainage of a common single pulmonary vein into L
atrium by way of an additional atrium like chamber,
called as CORTRIATRIUM deformity.
 CONCLUSION
Congenital anomalies an important cause of
mortality and morbidity in children and adults
Understanding of their imaging features
& presentation are important for the physician.