Clinical Presentation of Congenital Pulmonary Disorders

Emily B. Gaerlan – Resurreccion,M.D.

Pediatric Pulmonologist

Congenital Respiratory tract disorders

From the nose to the trachea, bronchi to the alveoli

May manifest early or late

Systematic Approach

Six “trees” of the lung: bronchial arterial (systemic and pulmonary) venous (systemic and pulmonary) lymphatic

Systematic Approach

Bronchial venous drainage no known abnormalities

Three other areas with malformations: heart and great vessels chest wall abdomen

Multisystem disease

Presentation of Congenital Lung Disease

I. AntenatalII. NewbornIII. Later childhoodIV. Adulthood

ANTENATAL

Detected during routine fetal anomaly scan

Manifested by abnormalities of amniotic fluid

May also present with short limbs in skeletal dysplasia

Presentation of Congenital Lung Disease

Antenatalintrathoracic mass

pleural effusion

fetal hydrops

oligohydramnios/ polyhydramnios

other associated abnormalities discovered

ANTENATAL

Intrathoracic lesionsA. Solid Lesions

Microcystic adenomatoid malformation Pulmonary sequestration Right-sided diaphragmatic hernia Tracheal/laryngeal atresia Rhabdomyoma Mediastinal teratoma

ANTENATAL

Intrathoracic lesions

B. Cystic LesionsMacrocystic adenomatoid malformationCongenital diaphragmatic herniaBronchogenic cystMediastinal encephalocelePleural and pericardial effusion

NEWBORN PERIOD

Presentation of Congenital Lung Disease

Newborn periodrespiratory distress

stridor

bubbly secretions in mouth

failure to pass nasogastric tube

unable to establish an airway

cardiac failure

Presentation of Congenital Lung Disease

Newborn periodchance finding

cyanosis in a well infant

poor respiratory effort

NEWBORN PERIOD

I. Respiratory distress

II. Stridor

III. Dysphagia/feeding problems

IV. Wheezing

V. Recurrent Respiratory Infections

VI. Asymptomatic

I. Respiratory distress

May be manifested by tachypnea, cyanosis, grunting, presence of retractions

Early onset vs. late onset

I. Respiratory distress

A. Choanal atresia

B. Pyriform Aperture Stenosis

C. Congenital Midline Nasal Masses

D. Tracheal agenesis and atresia

E. Congenital Diaphragmatic Hernia

F. Congenital Large Hyperlucent Lobe

A. Choanal Atresia

most common congenital anomaly of the nose frequency of ≈1/7,000 live birthsCHARGE syndrome (coloboma, heart

disease, atresia choanae, retarded growth and development or CNS anomalies or both, genital anomalies or hypogonadism or both, and ear anomalies or deafness or both)

A. Choanal Atresia

Bilateral:• difficulty with mouth breathing, • make vigorous attempts to inspire, • often suck in their lips, and develop

cyanosis • crying relieves the cyanosis and become

calmer • repeats the cycle after closing their mouths

A. Choanal Atresia

Unilateral:• the infant may be asymptomatic for a prolonged

period, often until the 1st respiratory infection• Present with unilateral nasal discharge or

persistent nasal obstruction

A. Choanal Atresia

Diagnosis:• established by the inability to pass a firm

catheter through each nostril • seen directly with fiberoptic rhinoscopy • high-resolution CT

B. Pyriform Aperture Stenosis

bony abnormality of the anterior nasal aperture

Signs/Symptoms:

severe nasal obstruction at birth or shortly thereafter

Diagnosis: CT scan of the nose

C. Congenital Midline Nasal Masses

Dermoids, gliomas, and encephaloceles Present intranasally or extranasally and

may have intracranial connectionsDiagnosis: CT scan or MRI

D. Tracheal agenesis and atresia

rare anomalies that are incompatible with life

associated with other congenital anomalies, particularly laryngeal conditions and tracheoesophageal fistula

Diagnosis: bronchoscopy in the newborn with severe respiratory distress

E. Congenital Diaphragmatic Hernia

typically refers to the Bochdalek form communication between the abdominal

and thoracic cavities with or without abdominal contents in the thorax

can be associated with other congenital anomalies

E. Congenital Diaphragmatic Hernia

Respiratory distress is a cardinal sign in babies with CDH.

may occur immediately or there may be a “honeymoon” period of up to 48 hr when the baby is relatively stable

E. Congenital Diaphragmatic Hernia

May present beyond the neonatal period may experience vomiting as a result of

intestinal obstruction or mild respiratory symptoms

E. Congenital Diaphragmatic Hernia

F. Congenital Large Hyperlucent Lobe

P.E.• Hyperresonance in

affected hemithorax• diminished breath

sounds,• deviation of mediastinal

structures to the contralateral side

Diagnosis• Chest radiograph

II. Stridor

predominant monophonic noise inspiratory stridor caused by the

extrathoracic lesions of congenital laryngeal anomalies, specifically laryngomalacia and bilateral vocal cord paralysis

intrathoracic lesions typically cause expiratory wheezing or stridor

II. Stridor

A. Laryngomalacia

B. Congenital Subglottic Stenosis

C. Vocal Cord Paralysis

D. Congenital Laryngeal Webs and Atresia

E. Congenital Subglottic Hemangioma

F. Vascular and Cardiac Anomalies

G.  Tracheal Stenoses and Webs

A. Laryngomalacia

Comprise 60% of congenital laryngeal anomalies in children

stridor is inspiratory, low pitched, and exacerbated by any exertion (crying, agitation, feeding), supine position, and viral infections of the upper airway

A. Laryngomalacia

Stridor results from the collapse of supraglottic structures inward during inspiration

appear in the first 2 wk of life and increase in severity up to 6 mo, although gradual improvement can begin at any time

Diagnosis: flexible laryngoscopy

B. Congenital Subglottic Stenosis

2nd most common cause of stridor Stridor is biphasic or primarily inspiratoryRecurrent or persistent croup is typical

C. Vocal Cord Paralysis

3rd most common congenital laryngeal anomaly

Congenital central lesions such as myelomeningocele, Arnold-Chiari malformation, and hydrocephalus are often associated

C. Vocal Cord Paralysis

Bilateral vocal cord paralysis:• high-pitched inspiratory • stridor, • a phonatory sound • inspiratory cry

Unilateral paralysis :• aspiration• coughing• choking

D. Congenital Laryngeal Webs and Atresia

Most congenital laryngeal webs are glottic with subglottic extension and associated subglottic stenosis

Diagnosis: direct laryngoscopy

E. Congenital Subglottic Hemangioma

Symptoms of airway obstruction typically occur in the 1st 2 mo of life

Stridor is biphasic but usually more prominent during inspiration

F. Vascular and Cardiac Anomalies

Vascular ring result from abnormal development of the aortic arch complex

symptomatic by 3 mo of age Signs/Symptoms:

• expiratory wheezing • cough • dysphagia

G.  Tracheal Stenoses and Webs

typically presents in the 1st year of lifeprecipitated by an acute respiratory illnessDiagnosis: plain radiograph

bronchoscopy

III. Dysphagia/Feeding Problems

A. Vascular Ring

B. Foregut Cysts

C. Tracheoesophageal fistula/Esophageal Atresia

A. Vascular Ring

Respiratory symptoms predominate, but dysphagia may be present

Diagnosis : barium esophagogram

A. Vascular Ring

posterior indentation of the esophagus by the vascular ring.

B. Foregut Cysts

• Include bronchogenic cyst, intramural esophageal cyst (esophageal duplication), and enteric cyst

• Diagnosis: chest radiographs or CT scan

C. Tracheoesophageal fistula/Esophageal Atresia

Associated with maternal polyhydramnios

Signs/Symptoms• frothing • choking • cyanotic episodes

despite oral suction

IV. Wheezing

IV. Wheezing

A. Bronchomalacia

B. Tracheomalacia

A. Bronchomalacia/Tracheomalacia

common cause of persistent wheezing in infancy

either primary or secondary most affected patients are born term

A. Bronchomalacia/Tracheomalacia

Secondary tracheomalacia and bronchomalacia refers to the situation in which the central airway is compressed by adjacent structure (e.g., vascular ring) or deficient in cartilage due to tracheoesophageal fistula

A. Bronchomalacia/Tracheomalacia

dominant finding, low-pitched monophonic wheezing, most prominent over the central airways.

persistent respiratory congestion even in the absence of a viral respiratory infection

Diagnosis: flexible or rigid bronchoscopy

V. Recurrent Respiratory infection

A. Foramen of Morgagni Hernia

B. Congenital Cystic Lung Disease

C. Pulmonary Sequestration

A. Foramen of Morgagni Hernia

anteromedial diaphragmatic defect Signs/Symptoms:

• asymptomatic and are diagnosed beyond the neonatal period

Diagnosis: chest x-ray

B. Congenital Cystic Lung Disease

Congenital pulmonary airway malformationCystic congenital thoracic malformationFive types(0,1,2,3,4)Treatment: surgical excision

B. Congenital Cystic Lung Disease

C. Pulmonary Sequestration

lung tissue that does not connect to a bronchus

receives its arterial supply from the systemic arteries

returns its venous blood to the right side of the heart through the inferior vena cava (extralobar) or pulmonary veins (intralobar).

C. Pulmonary Sequestration

functions as a space-occupying lesion within the chest

it does not function in gas exchangeP.E: dullness to percussion

decreased breath sounds over the lesion

During infection, crackles may also be present

VI. Asymptomatic

Foramen of Morgagni HerniaCongenital Cystic Lung DiseaseEventration of the diaphragm

Eventration of diaphragm

abnormal elevation, consisting of a thinned diaphragmatic muscle producing elevation of the entire hemidiaphragm or, more commonly, the anterior aspect of the hemidiaphragm

produces a paradoxical motion of the affected hemidiaphragm

Most are asymptomatic

Eventration of diaphragm

Presentation of Congenital Lung Disease

Later Childhood/Adulthood

recurrent infection

hemoptysis, hemothorax

bronchiectasis, bronchopleural fistula

steroid-resistant airway obstruction

cardiac failure

malignant transformation

Presentation of Congenital Lung Disease

Later Childhood/Adulthood

cyanosis

coughing on drinking

chance finding of mass or hyperlucent area on chest radiograph

SUMMARY

Congenital Lung Disease

Can present any time from 20 weeks of gestation to old age

May regress to virtually nothingMay require surgery

Congenital Lung Disease

Gaps of knowledge:o long term consequences of the lesions

diagnosed antenatallyo need for registrieso need for refinement of MRI

Thank you