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. Antenatal II. Newborn III. Later childhood IV. 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 Antenatal intrathoracic mass pleural effusion fetal hydrops oligohydramnios/ polyhydramnios other associated abnormalities discovered

ANTENATAL Intrathoracic lesions A. Solid Lesions Microcystic adenomatoid malformation Pulmonary sequestration Right-sided diaphragmatic hernia Tracheal/laryngeal atresia Rhabdomyoma Mediastinal teratoma

ANTENATAL Intrathoracic lesions B. Cystic Lesions Macrocystic adenomatoid malformation Congenital diaphragmatic hernia Bronchogenic cyst Mediastinal encephalocele Pleural and pericardial effusion

NEWBORN PERIOD

Presentation of Congenital Lung Disease Newborn period respiratory distress stridor bubbly secretions in mouth failure to pass nasogastric tube unable to establish an airway cardiac failure

Presentation of Congenital Lung Disease Newborn period chance finding cyanosis in a well infant poor respiratory effort

NEWBORN PERIOD Respiratory distress Stridor Dysphagia/feeding problems Wheezing Recurrent Respiratory Infections Asymptomatic

I. Respiratory distress May be manifested by tachypnea, cyanosis, grunting, presence of retractions Early onset vs. late onset

I. Respiratory distress Choanal atresia Pyriform Aperture Stenosis Congenital Midline Nasal Masses Tracheal agenesis and atresia Congenital Diaphragmatic Hernia Congenital Large Hyperlucent Lobe

A. Choanal Atresia most common congenital anomaly of the nose frequency of ≈1/7,000 live births CHARGE 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 connections Diagnosis: 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 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 Laryngomalacia Congenital Subglottic Stenosis Vocal Cord Paralysis Congenital Laryngeal Webs and Atresia Congenital Subglottic Hemangioma Vascular and Cardiac Anomalies  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 inspiratory Recurrent 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 life precipitated by an acute respiratory illness Diagnosis: plain radiograph bronchoscopy

III. Dysphagia/Feeding Problems Vascular Ring Foregut Cysts 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

Tracheoesophageal fistula/ Esophageal Atresia Associated with maternal polyhydramnios Signs/Symptoms frothing choking cyanotic episodes despite oral suction

IV. Wheezing

IV. Wheezing Bronchomalacia 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 Foramen of Morgagni Hernia Congenital Cystic Lung Disease 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 malformation Cystic congenital thoracic malformation Five 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 exchange P.E: dullness to percussion decreased breath sounds over the lesion During infection, crackles may also be present

VI. Asymptomatic Foramen of Morgagni Hernia Congenital Cystic Lung Disease Eventration 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 nothing May require surgery

Congenital Lung Disease Gaps of knowledge: long term consequences of the lesions diagnosed antenatally need for registries need for refinement of MRI

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