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Congenital Malformation
of the Lung and Airways

RidwanMuchtarDaulay,WismanDalimunthe,
Rini Savitri Daulay
DivisiRespirologiDepartemenIlmuKesehatanAnak
FakultasKedokteran – Universitas Sumatera Utara
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 Congenital anomalies:
 Account for one third infant deaths
 Leading cause of death  developing countries

 Congenital malformation of respiratory system:

 7,5-18,7% of all congenital anomalies
 Rank second of congenital malformation  infant mortality
 Wide spectrum: asymptomatic to infant deaths
 0,25 deaths per 1000 live births (US)
 80% infant deaths cause by lung hypoplasia or dysplasia
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Laryngomalacia

3
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Introduction

 Most common congenital anomaly in the upper airway

 Associated with multiple congenital anomaly

 Most cases are mild

 Not a true malformation  delay maturation of the supporting

structures of the larynx  larynx more collapsible than normal
during inspiration
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 Some cases laryngomalacia due to short arytenoepiglottic folds,

flaccidity of an omega-shaped epiglottis or collapsing arytenoid

 Laryngomalacia may acquired: infants with Pierre Robin sequence 

upper airway obstruction  generate high negative pressure during
inspiration
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Clinical manifestation

 Inspiratorystridor:
 Early neonatal period
 6 weeks of age  most patients
 Following intercurrent upper respiratory tract infection
 More prominent during crying, feeding and respiratory tract infection

 Inspiratory force

 Significant airway obstruction  unusual

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Diagnosis

Based on
Clinical history
Physical examination
Flexible laryngoscope
Premature
Prolonged intubation & failed extubation

Rigid bronchoscopy
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Management
Surgical
●
Benign & self limited
●
Symptoms usually resolve
within 12-18 mo & almost
always by 2 yo of age

Mild Case

●
Positive airway
pressureTreatment of Gastroesophageal Reflux Disease
Patients with sleep
disturbance
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Complication

 Pulmonary hypertension

 Corpulmonale

 Failure to thrive

 Impaired intellectual development secondary to episodes of hypoxia

and hypercapnia
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Tracheomalacia

10
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Introduction
 Flaccidity of the tracheal support cartilage which  tracheal collapse

 Three types :
 Type 1 — congenital (primary) ;
 Uncommon
 Abnormal softness of cartilage
 Down syndrome, trisomy 9, DiGeorge syndrome (22q11 deletion), Poland
syndrome

 Type 2 — extrinsic compression sometimes due to vascular rings

 Type 3 — acquired :
 chronic infection
 prolonged intubation

 Eextends further to the bronchi  tracheobronchomalacia

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Clinical Symptoms
 Usual symptom is expiratory stridor
 Impaired clearance of normal mucous secretion past the abnormal tracheal
segment  cough & rattly chest
 Usually appear in early infancy
 Harsh loud vibratory cough
 Rattly chest
 Dyspnea
 Wheeze
 Possibly stridor
 Bagpipe sign  sibilant expiratory note persisting after the end of visible
expiration
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Diagnosis

Chest X ●
Marked change airway caliber on
lateral inspiratory & expiratory

ray Particularly short segment malacia

●

Rigid ●
Direct visualization of
bronchoscop malacic area
y
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Management

Conservative: most
patient (isolated Positive pressure
tracheomalacia) ventilation
Physiotherapy Face mask
 improve Oxygen Nasopharyngeal
clearance tube &
Anti biotic  endotracheal
recurrent tube
infection
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Surgical
Dying spell
Recurrent
Pneumonia
Inability to Tracheostomy Lung transplantation
extubate
Feeding
difficulties &
failureto thrive
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Pulmonary Agenesis

16
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Introduction
Bilat Unil Loba
Rarer
Ra 1
●
●
●
eral ●
atera than
r
re Age in l comp Age
nesis Age lete nesis
●
As 10, nesis absen
soc 00 ce of
one
iati 0 lung
on to ●Whe
●

n
wit 20, occur
usual
h 00 ly 
ane 0 right
upper
nce aut &
ph ops midd
le
ali ies lobe
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Clinical Manifestation

Detectable flattening
& reduced movement Reduce air entry
chest wall  affected on auscultation
side

Breathlessnes Chest wall

s on exertion deformity
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Diagnosis

Mediastinal shift
Chest radiography
●

●
Herniation contralateral lung across the mediastinum

●
Absence of carina
Thorax CT Scan ●
Blind ending bronchus

Echocardiography ●
Absence of pulmonary artery
& angiography

Rigid
bronchoscopy
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Screening

 Prenatal: ultrasound screening

 Fetal MRI  avoid catastrophic consequences of an exit resection of

this presumed abnormaly enlarged lung, which would in fact be the
infant’s one and only lung
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Severe pulmonary hypoplasia

Unilateral emphysema Severe
Total atelectasis cause with compression or
by bronchial obstruction collaps of contra lateral pulmonary
lung
hypoplasia
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Management

Supportive Correcting Prevention &

treatment associated treatment of
malformation respiratory
infections
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Complication
Presence ofblood
Normal hypoxiavolume
(which is must
potent
pulmonary constrictor) or a cardiac left
flow
to
through
Normal
Presenceblood avolume
right shunt
reducedmust
 accelerate
of hypoxia (whichpulmonary
is potent
pulmonary tovascular
pulmonary constrictor)
hypertension or abed
irreversible left
cardiac
pulmonary
flow through
to right shunt
vascular
a reduced
hypertension
disease accelerate pulmonary
pulmonary
pulmonary
hypertension tovascular
irreversiblebed 
pulmonary
vascular disease hypertension
pulmonary

Sev
Sev
ere
ere
me
me
dia
dia
stin
stin
al
al
shif
shif
tt


pro
pro
gre
gre
ssi
ssi
ve
ve
det
det
eri
eri
ora
ora
tio
tio
n
n
sim
sim
ilar
ilar
to
to
pos
pos
tpn
tpn
eu
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nec
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syn
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Pulmonary Hypoplasia

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 Pulmonary hypoplasia (small lung)  defined as lung weight

more than 2 SD below the normal for age (or gestational age)
 Almost always accompanied by hypoplasia of the
corresponding pulmonary vessel
 Hypoplasia as an isolated phenomenon is rare
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Causes
Table 1. Most common causes of Pulmonary Hypoplasia
Condition leading to an egress of lung •Severe oligohydramnion (from
fluid premature rupture of membranes,
bilateral renal agenesis, urinary tract
obstruction)
•Compression of thoracic cage and
abdominal contents by the uterus 
limitation of breathing movement
SOL •Congenital diaphragmatic hernia
•Lung malformation
•Thoracic tumor
•Pleural effusion
•Abdominal condition pressing on the
diaphragma (massive ascites)
Thoracic cage anomalies •Achondroplasia
•Scoliosis
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Conditions preventing normal fetal •Anencephaly

breathing movements •Phrenic nerve agenesis

Thoracic compression from below Abdominal tumors

Ascites

Thoracic compression from the side Amniotic bands

Oligohydramnions
Asphyxiating dystrophy/scoliosis or
other chest wall deformity
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Clinical Finding

 Early infancy  respiratory distress ( mild to severe

depending on the degree of hypoplasia)
 Severe bilateral hypoplasia thoracic cage
reduced in size  bell shaped
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Diagnosis
 Chest X ray:
 Ribs may appear crowded
 Low thoracic to abdominal ratio

 Isotope scanning  perfusion>ventilation on the side of the lesion

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Treatment

 No specific treatment

 Supportive measures :
 Mechanical ventilation
 Supplemental oxygen
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Prognosis

 Infants who remain on high pressure ventilation and high inspired

oxygen concentration at the end of the first week  extremely bad
prognostic
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Diaphragmatica

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 Definition: developmental abnormality of the diaphragm that allow
abdominal viscera to enter the thoracic cavity

 Defect:
 Most common: posterolateral (Bochdaleck)  90% on the left side, 10% on the
right side and 1% bilateral
 Retrosternal (Morgagni)

 Epidemiology
 Incidence:
1 in 2000-4000 lives birth
♂:♀ = 1,5:1
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Pathogenesis
Premature migration of the gut into the abdominal cavity
after the periode of extracoelomic growth (compression
theory)
Abnormal lung development/hypoplasia which permits the
herniation of the gut into the chest
Problem with phrenic nerve development leading to
incomplete formation of the diaphragm
Delayed closure of the pleuroperitoneal fold
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Prenatal Diagnosis
 USG

 MRI
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Clinical Manifestation
 Majority:
 Severe respiratory distress (first hour of life)
 Scaphoid abdomen
 Apparent dextrocardia (since 90% CHD are on the left)
 Decreased breath sound over the involve chest
 Delayed presentation:
 Vomiting  intestinal obsturction, gastric volvulus
 Mild respiratory simptom
 Occasionally:
 Ischemia  incarceration of the intestine
 Sepsis
 Cardiorespiratory collapse
 Unrecognized:
 Sudden death
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Initial Management
 Avoiding bag and mask ventilation  minimize gaseous
distention of the stomach and intestines, which would
further compromise lung function
 Prompt endotracheal intubation
 Nasogastric tube passed and placed then chest x ray was
done
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Diagnosis post natal
 Radiology:
 CXR  lateral: intestine passing the through posterior portion of
diaphragm

 USG & Fluoroscopy  distuingish true hernia and evantratio

 Barrium follow through

 CT Scan

 Echocardiography  pulmonal hypertension

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Treatment
 Preoperative stabilization:
 Intubated
 Mechanical ventilation :
 Peak inspiratory pressure <25mmHg
 Sedation  allow coordination of the patient with the
ventilator

 Operative:
 Generally shift from emergency repair to a delayed approach
after stabilization of the infant
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Prognosis
 Mortality rate after birth: 7-10%
 Poor prognosis:
 Large anomaly
 Symptoms occur in first 24 hours
 Severe respiratory distress

 Recurency: 20-40% in first year

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