1. Clinical Presentation of Congenital Pulmonary Disorders
Emily B. Gaerlan – Resurreccion,M.D.
Pediatric Pulmonologist

2. Congenital Respiratory tract disorders
From the nose to the trachea, bronchi to the alveoli
May manifest early or late

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

4. Systematic Approach Bronchial venous drainage
no known abnormalities
Three other areas with malformations:
heart and great vessels
chest wall
abdomen
Multisystem disease

5. Presentation of Congenital Lung Disease
I. Antenatal
II. Newborn
III. Later childhood
IV. Adulthood

6. ANTENATAL Detected during routine fetal anomaly scan
Manifested by abnormalities of amniotic fluid
May also present with short limbs in skeletal dysplasia

7. Presentation of Congenital Lung Disease
Antenatal
intrathoracic mass
pleural effusion
fetal hydrops
oligohydramnios/ polyhydramnios
other associated abnormalities discovered

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

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

10. NEWBORN PERIOD

11. 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

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

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

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

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

16. 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)

17. 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

18. 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

19. A. Choanal Atresia Diagnosis:
established by the inability to pass a firm catheter through each nostril
seen directly with fiberoptic rhinoscopy
high-resolution CT

20. 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

21. C. Congenital Midline Nasal Masses
Dermoids, gliomas, and encephaloceles
Present intranasally or extranasally and may have intracranial connections
Diagnosis: CT scan or MRI

22. 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

23. 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

24. 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

25. E. Congenital Diaphragmatic Hernia
May present beyond the neonatal period
may experience vomiting as a result of intestinal obstruction or mild respiratory symptoms

26. E. Congenital Diaphragmatic Hernia

27. F. Congenital Large Hyperlucent Lobe
Hyperresonance in affected hemithorax
diminished breath sounds,
deviation of mediastinal structures to the contralateral side
Diagnosis
Chest radiograph

28. 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

29. 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

30. 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

31. 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

32. B. Congenital Subglottic Stenosis
2nd most common cause of stridor
Stridor is biphasic or primarily inspiratory
Recurrent or persistent croup is typical

33. C. Vocal Cord Paralysis 3rd most common congenital laryngeal anomaly
Congenital central lesions such as myelomeningocele, Arnold-Chiari malformation, and hydrocephalus are often associated

34. C. Vocal Cord Paralysis Bilateral vocal cord paralysis:
high-pitched inspiratory
stridor,
a phonatory sound
inspiratory cry
Unilateral paralysis :
aspiration
coughing
choking

35. D. Congenital Laryngeal Webs and Atresia
Most congenital laryngeal webs are glottic with subglottic extension and associated subglottic stenosis
Diagnosis: direct laryngoscopy

36. 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

37. 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

38. G. Tracheal Stenoses and Webs
typically presents in the 1st year of life
precipitated by an acute respiratory illness
Diagnosis: plain radiograph
bronchoscopy

39. III. Dysphagia/Feeding Problems
Vascular Ring
Foregut Cysts
Tracheoesophageal fistula/ Esophageal Atresia

40. A. Vascular Ring
Respiratory symptoms predominate, but dysphagia may be present
Diagnosis : barium esophagogram

41. A. Vascular Ring
posterior indentation of the esophagus by the vascular ring.

42. B. Foregut Cysts
Include bronchogenic cyst, intramural esophageal cyst (esophageal duplication), and enteric cyst
Diagnosis: chest radiographs or CT scan

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

44. IV. Wheezing

45. IV. Wheezing
Bronchomalacia
Tracheomalacia

46. A. Bronchomalacia/Tracheomalacia
common cause of persistent wheezing in infancy
either primary or secondary
most affected patients are born term

47. 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

48. 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

49. V. Recurrent Respiratory infection
Foramen of Morgagni Hernia
Congenital Cystic Lung Disease
Pulmonary Sequestration

50. A. Foramen of Morgagni Hernia
anteromedial diaphragmatic defect
Signs/Symptoms:
asymptomatic and are diagnosed beyond the neonatal period
Diagnosis: chest x-ray

51. B. Congenital Cystic Lung Disease
Congenital pulmonary airway malformation
Cystic congenital thoracic malformation
Five types(0,1,2,3,4)
Treatment: surgical excision

52. B. Congenital Cystic Lung Disease

53. 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).

54. 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

55. VI. Asymptomatic Foramen of Morgagni Hernia
Congenital Cystic Lung Disease
Eventration of the diaphragm

56. 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

57. Eventration of diaphragm

58. Presentation of Congenital Lung Disease
Later Childhood/Adulthood
recurrent infection
hemoptysis, hemothorax
bronchiectasis, bronchopleural fistula
steroid-resistant airway obstruction
cardiac failure
malignant transformation

59. Presentation of Congenital Lung Disease
Later Childhood/Adulthood
cyanosis
coughing on drinking
chance finding of mass or hyperlucent area on chest radiograph

60. SUMMARY

61. Congenital Lung Disease
Can present any time from 20 weeks of gestation to old age
May regress to virtually nothing
May require surgery

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

63. Thank you