5/24/2011

1

+

HelmiLubis, RidwanMuchtarDaulay,

WismanDalimunthe, Rini Savitri Daulay

DivisiRespirologiDepartemenIlmuKesehatanAnak

FakultasKedokteran – Universitas Sumatera Utara

Congenital Malformation

of the Lung and Airways

+

� 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

2

5/24/2011

2

+

Laryngomalacia

3

+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

4

5/24/2011

3

+

� Some cases �larynomalacia 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

5

+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

6

5/24/2011

4

+Diagnosis

Based on

• Clinical history

• Physical examination

Based on

• Clinical history

• Physical examination

Flexible laryngoscope

• Premature

• Prolonged intubation & failed extubation

Flexible laryngoscope

• Premature

• Prolonged intubation & failed extubation

Rigid bronchoscopyRigid bronchoscopy

7

+Management

• Beningn & self limited

• Symptoms usually resolve within 12-18 mo & almost always by 2 yo of age

Mild Case

• Positive airway pressure

Patients with sleep disturbance

• Epiglottoplasty

• Epiglottopexy

• Release arytenoepiglottic fold

• Tracheostomy (rarely)

Severe, sufficient growth & development

8

Surgical

5/24/2011

5

+Complication

� Pulmonary hypertension

� Corpulmonale

� Failure to thrive

� Impaired intellectual development secondary to episodes of

hypoxia and hypercapnia

9

+

Tracheomalacia

10

5/24/2011

6

+Introduction

� Primary or secondary

� Localized or generalized

� Primary Tracheomalacia:

� Uncommon

� Abnormal softness of cartilage or shortening of the cartilagerings

with a correspondingly pars membranacea

� Associated with Down syndrome, trisomy 9, DiGeorge syndrome

(22q11 deletion), Poland syndrome

11

+

� Most commonly tracheomalacia� localized abnormality

� Secondary to extrinsic compression such as vascular ring or

mediastinal cyst

� Secondary to prolonged intubation, tracheostomy and severe

tracheobronchitis

12

5/24/2011

7

+Clinical Symptoms

� 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

13

+

� Impaired clearance of normal mucous secretion past the

abnormal tracheal segment � cough&rattly chest

� Increased intrathoracic pressure during inspiration

�collapsmalacic segment � narrowing airway lumen,

airway obstruction and expiratory stridor

� Dyspnea and severe respiratory distress � acute severe

obstructive episode with cyanosis

14

5/24/2011

8

+Diagnosis

• Marked change airway caliber on lateral inspiratory& expiratory

• Particularly short segment malacia

Chest X rayChest X ray

• Direct visualization of malacicareaRigid

bronchoscopyRigid

bronchoscopy

15

+Management

Conservative: most patient (isolated tracheomalacia)

• Physiotherapy �improve clearance

• Anti biotic �recurrent infection

Conservative: most patient (isolated tracheomalacia)

• Physiotherapy �improve clearance

• Anti biotic �recurrent infection

Oxygen Oxygen

Positive pressure ventilation

• Face mask

• Nasopharyngeal tube & endotracheal tube

Positive pressure ventilation

• Face mask

• Nasopharyngeal tube & endotracheal tube

16

5/24/2011

9

+

Surgical

• Dying spell

• Recurrent Pneumonia

• Inability to extubate

• Feeding difficulties & failureto thrive

Surgical

• Dying spell

• Recurrent Pneumonia

• Inability to extubate

• Feeding difficulties & failureto thrive

TracheostomyTracheostomyLung

transplantationLung

transplantation

17

+

Pulmonary Agenesis

18

5/24/2011

10

+Introduction

Bilateral Agenesis • Rare

• Association with anencephali

• Rare

• Association with anencephali

Unilateral Agenesis • 1 in 10,000

to 20,000 autopsies

• 1 in 10,000 to 20,000 autopsies

Lobar Agenesis • Rarer than

compete absence of one lung

• When occur usually �right upper & middle lobe

• Rarer than compete absence of one lung

• When occur usually �right upper & middle lobe

19

+Clinical Manifestation

Detectable flattening & reduced

movement chest wall � affected side

Detectable flattening & reduced

movement chest wall � affected side

Reduce air entry on auscultation

Reduce air entry on auscultation

Breathlessness on exertion

Breathlessness on exertion

Chest wall deformity Chest wall deformity Secondary scoliosisSecondary scoliosis

20

5/24/2011

11

+Diagnosis

• Mediastinal shift

• Herniation contralateral lung across the mediastinumChest radiographyChest radiography

• Absence of carina

• Blind ending bronchusThorax CT ScanThorax CT Scan

• Absence of pulmonary arteryEchocardiography & angiography

Echocardiography & angiography

Rigid bronchoscopyRigid bronchoscopy

21

+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

22

5/24/2011

12

+Severe pulmonary hypoplasia

Total atelectasis cause by bronchial obstruction

Unilateral emphysema with compression or collaps of contra lateral

lung

Severe pulmonary hypoplasia

23

+Management

Supportive treatmentSupportive treatment

Correcting associated malformation

Correcting associated malformation

Prevention & treatment of respiratory infections

Prevention & treatment of respiratory infections

24

5/24/2011

13

+Complication

Normal blood volume must flow through a reduced pulmonary vascular bed � pulmonary hypertension

Normal blood volume must flow through a reduced pulmonary vascular bed � pulmonary hypertension

Presence of hypoxia (which is potent pulmonary constrictor) or a cardiac left to right shunt �accelerate pulmonary hypertension to irreversible pulmonary vascular disease

Presence of hypoxia (which is potent pulmonary constrictor) or a cardiac left to right shunt �accelerate pulmonary hypertension to irreversible pulmonary vascular disease

Severe mediastinal shift � progressive deterioration similar to postpneumonectomysyndrome

Severe mediastinal shift � progressive deterioration similar to postpneumonectomysyndrome

25

+

Pulmonary Hypoplasia

26

5/24/2011

14

+

� 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

27

+Causes

Condition leading to an egress of lung fluid

•Severe oligohydramnion (from 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

Table 1. Most common causes of Pulmonary Hypoplasia

5/24/2011

15

+

Conditions preventing normal fetal breathing movements

•Anencephaly•Phrenic nerve agenesis

Thoracic compression from below Abdominal tumorsAscites

Thoracic compression from the side Amniotic bandsOligohydramnionsAsphyxiating dystrophy/scoliosis or other chest wall deformity

+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

5/24/2011

16

+Diagnosis

� Chest X ray:

� Ribs may appear crowded

� Low thoracic to abdominal ratio

� Isotope scanning ���� perfusion>ventilation on the side of the

lesion

+Treatment

� No specific treatment

� Supportive measures :

� Mechanical ventilation

� Supplemental oxygen

5/24/2011

17

+Prognosis

� Infants who remain on high pressure ventilation and high inspired

oxygen concentration at the end of the first week ���� extremely bad prognostic

+Congenital Hernia

Diaphragmatica

34

5/24/2011

18

+

� Definition: developmental abnormality of the diaphragm that allow

abdominal viscera to enter the thoracic cavity

� Defect:

� Most common: posterolateral (Bochladeck) � 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

5/24/2011

19

+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

+Prenatal Diagnosis

� USG

� MRI

5/24/2011

20

+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 obstuction, gastric volvulus� Mild respiratory simptom

� Occasionally:� Ischemia � incarceration of the intestine� Sepsis� Cardiorespiratory collapse

� Unrecognized:� Sudden death

+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

5/24/2011

21

+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

+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

5/24/2011

22

+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

+ 44