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Respirology > Congenital Lung Disease > Flashcards

Congenital Lung Disease Flashcards

1
Q

Clinical Approach to Congenital Lung Lesions

A

1) Describe what is actually seen on antenatal/postnatal imaging - do not make a diagnosis as this requires pathology.
2) Description should be in common language, avoid latin and ambiguous language.
3) Need to ensure lung AND other organs looked at in systematic manner - abnormalities are often multiple.
4) Keep clinical and pathological descriptions separate. Pathologist makes diagnosis after excision.

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2
Q

Antenatal presentation of congenital lung disease

A

Intrathoracic mass
Pleural effusion
Fetal hydrops
Oligo or polyhydramnios

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3
Q

Newborn presentation of congenital lung disease

A 
Respiratory Distress
Stridor
Bubble secretions in mouth, not able to swallow
Failure to pass NG tube
Unable to establish an airway
Cardiac failure
Poor respiratory effort
Cyanosis in a well baby
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4
Q

Later childhood/adulthood presentation of congenital lung disease

A 
Recurrent infection (including TB and Aspergillus)
Hemoptysis. hemothorax
Bronchiectasis, bronchopleural fistula
Steroid resistant airway obstruction
Cardiac failure
Malignant transformation
Cyanosis
Coughing on drinking
Chance finding
Air embolism
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5
Q

Differential diagnosis of Solid Fetal intrathoracic lesions

A 
Microcystic adenomatoid malformation
Pulmonary sequestration
Right sided diaphragmatic hernia
tracheal/laryngeal atresia
Rhabdomyoma
Mediastinal teratoma
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6
Q

Differential diagnosis of Cystic Fetal Intrathoracic lesions

A 
Macrocystic adenomatoid malformation
CDH
Bronchogenic cyst
Mediastinal encephalocele
Pleural and pericardial effusion
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7
Q

Characteristics of CDH

A

Assoc abn: aneuploidy (Trisomy 13,18), genetic synd (ex: Fryns syndrome), structural (ex: cleft lip and palate, midline anomalies, cardiac, NT defect like myelomeningocele)

Lung hypoplasia due to inhibited development by gut herniation

L>R.

  • Left → mediastinal shift, abdo viscera in thorax, cystic structure (stomach) in thorax
  • Right → liver herniated (however same echogen as fluid-filled lung), only clue often= mediastinal shift (and needs to be there at time of the scan)

Best prognostic indicator: Lung-to-Head ratio (LHR)
Good prog factors: Isolated Left, Intra-abdominal stomach, Dx after 24-weeks

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8
Q

Presentation of Upper Respiratory Tract Atresia

A

Suspected when you seen enlarged, uniformly hyperechogenic lungs on U/S prentally
- Other feat: mediastinal compression, flat/convex diaphragm, hydrops, polyhydramnios

Differential includes subglottic stenosis and bilateral microcystic CPAM

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9
Q

When to consider airway abnormality?

A

abnormal cry, weak/husky voice, recurrent croup-like eps - Feeding difficulty may also be a feature: recurrent aspiration (laryngeal cleft) or respiratrory distress + GERD (larnygomalacia)

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10
Q

Characteristics of Laryngeal webs/atresia

A

Laryngeal lumen recannalizes by 10th week - failure = laryngeal web or atresia.

Laryngeal atresia : Part of CHAOS - congenital high airway obstruction syndrome

Characterized by large echogenic lungs, dilated distal airway, inverted diaphragm, ascites.

Laryngeal Webs: strong assoc w/ 22q11.2 del

  • Majority = anterior - present w/ aphonia, abn cry or obstruction
  • May be thin band btw Vocal cords OR assoc. w/ abn cricoid ring w/ assoc subglottic stenosis
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11
Q

Characteristics of Laryngeal clefts

A

Laryngeal cleft = failure of tracheo-esophageal septum

Note: Clefts can occur in assoc w/ TEF, represent a commonly missed cause of aspiration

Classification and Mgmt:

  • Type I = Inter-arytenoid. Mgmt: 1st line = conservative (thickening). If fails endoscopic repair.
  • Type 2 = Up to partial Cricoid cleft. Mgmt: if small = endoscopic. Large = open repair.
  • Type 3 = Complete cricoid - to cervical trachea Mgmt = open repair: suturing vs. fascial graft
  • Type 4 = Extension into thoracic trachea = ↑↑ mobird/mortality. Thoracotomy +/- ECMO vs. palltv
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12
Q

Characteristics of Laryngomalacia

A

Most common UA abnormality

Spectrum of anomalies, dynamic:
Short AE folds → omega epiglottis, prolapsing arytenoid
cartilages, (ary)epliglottic redundancy w/ prolapse

Symp: Inspiratory stridor, noisy breathing which starts at ~1wk

Assoc: Feeding difficulty w/ incr WOB, regurg, aspiratn (4-40%), short feeds. ↓ wt gain if severe

Natural Hx: Resolution in 2nd year of life

Mgmt: Diagnosis - confirm w/ flex endoscopy, reassurance, follow-up (wts)

Active mgmt - for severe (<10%) = supraglottosplasty.

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13
Q

Characteristics of Unilateral VC paralysis

A

Unilateral = usually peripheral

  • L > R recurrent laryngeal since L longer
  • Unilateral may be assoc. w/ cardiac abn, birth traum
  • Diagnosis of unilateral often delayed: No obstruction, +weak/hoarse voice

Work-up: Image whole recurrent laryngeal N - assess abn of skull base, neck, thorax
If compensation inadequate, Rx: contra-lateral bulking or cord medialization

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14
Q

Characteristics of Bilateral VC paralysis

A

Stridor, often biphasic, inspiratory > expiratory
Traditional mgmt: Tracheostomy, may be avoided in ~50% - If possible, treat underlying neuro abn

Alternative Rxs: to ↓uaw resistance - unilat excision of part of cord/arytenoid

Cord lateralization (open) also possible, may allow decannulization

If no recovery by 2-yrs, presume PERMANENT - consider cord surgery to reverse trache

Minor risk of aspriation post cord resection

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15
Q

Difference between Laryngocele and Saccular cyst

A

Laryngocele = air-filled, may cause obstruction

Saccular cyst = mucous filled, in false cords/aryepiglottic folds, may obstruct

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16
Q

Characteristics of Subglottic/Tracheal Hemangioma

A

Benign vascular tumors (L>R), grow for 1st 12-18mo → slow involution to resolution

Asymptomatic at birth → a/w obstruction by ~3mo

Diagnosis: Endoscopic - small, compressible blueish mass in subglottic area (no biopsy reqd)

Treat: 1st line: Propranolol → rapid regressn. 2-3 mg/kg/d BID-QID x~12m. Monitor HR, BP, Glc

Other: systemic/lesional steroid, laser, open excision

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17
Q

Which is more common - congenital or acquired subglottic stenosis?

A

Acquired > Congenital. 1° RF = Intubation

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18
Q

Difference between Primary and Secondary Tracheomalacia

A

Primary = intrinsic abnormality in tracheal wall (Primary congenital may be assoc. w/ bronchomalacia. Also found w/ TEF, laryngeal cleft)

Secondary = extrinsic compression (usu cardiovascular abn)

  • Double Ao Arch = concerntric comp.
  • Anomalous innominate artery = compress R anterior
  • Pulmonary artery sling = compress R mainstem

Management: Most cases - no active rx, reach parents CPR +/- chest physio

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19
Q

Most common association with Congenital Tracheal Stenosis

A

Pulmonary Artery Sling

20
Q

Congenital Bronchial Stenosis vs Atresia

A

Stenosis: most often mainstem or RML bronchus

  • May produce acute or chronic pulmonary infection,
  • Ideal environment for suppuration, atelectasis, bronchiectasis

Atresia: usually asymptomatic, incidental finding or radiography

  • often results in cystic degeneration of distal lobe;
  • Distal airspace may be mucus-filled / cystic, often in continutity w/ area of hyperinflation -Difficult to distinguish from CPAM/CTM w/o histology, or CLHL/CLE due to mucus-plug
21
Q

With disorders of bronchial laterality, how do you figure out which is the right lung?

A

3 lobes, short mainstream

*-Important to disting laterality defect (PCD concern) vs hypoplastic R-lung causing dextroposition

22
Q

Characteristics of Mounier-Kuhn syndrome

A

congenital tracheobronchomegaly → tracheomalacia, bronchiectasis, dilated airway

23
Q

Characteristics of Williams-Campbell syndrome

A

diffuse bronchomalacia affecting generations 2-7.

24
Q

Causes of Bilateral Congenital Small Lungs

A

1) Lack of space = Abnormal thoracic, abdominal or amniotic cavity contents
2) Abnormal vascular supply = Pulmonary valve or artery stenosis, ToF
3) Neuromuscular disease = CNS, anterior horn cell, peripheral nerve or muscle disease reducing fetal breathing movements

25
Q

Causes of Congenital Small Lungs due to Extrapulmonary Mechanical Factors

A

1) Abnormal thoracic contents = Diaphragmatic hernia, pleural effusion, large congenital thoracic malformation
2) Thoracic compression from below = Abdominal tutors, Ascites
3) Thoracic compression from the sides = Amniotic banks, Oligohydramnios, Asphyxiating dystrophy/scoliosis or other chest wall deformity

26
Q

Characteristics of congenital small lungs

A

-Alveoli ↓ in size and/or #
-Bronchi may be underdeveloped also -Hyploplasia IF lung : body wt ratio < 0.012 -Many assoc malfomations
-Early correction of abnormality may allow alveolar growth
Note Aw branching complete @ 16wk

27
Q

Characteristics of Bronchogenic cysts

A
  • Most common cyst of infancy
  • ~50% in mediastinum close to carina
  • Other locations: along esophagus, tracheobronchial tree, rarely parenchyma
  • Usu singluar, unilocular, R > L. Contain systemic blood supply.
  • Symptoms 2° to compression of airways or complications (IE hemorrhage, infection)
28
Q

Characteristics of Enterogenous cysts

A
  • Esophageal (w/n wall of esophagus),
  • Gastroenteric (duplication) - unconnected to esophagus, often close to vertebrae (6-8). - Cause of POSTERIOR mediastinal mass

Symptoms - due to pressure, infection, hemorrhage, or due to vertebral anom
-Gastric mucosa → ulceration. Malignangt transfomatn ++rare.

29
Q

5 types of CPAM

A

Type 0: “acinar dysplasia” - rare, incompatible w/ life. Lungs = small, firm. Histology shows bronchial-airway and abundant mesenchymal tissue.

Type 1: Most common, best prognosis. Usu localized to 1-part of 1-lobe. Multiloculated cysts, larger than 2-cm by defn. Assoc w/ mucous cell hyperplasia (35-50%) - if this extends beyond the cyst: “ bronchioloalveolar carcinoma” - a mucinous adenoca good prognosis post- resection

Type 2: Second most freq. Cause resp distress in 1st month, assoc w/ renal agenesis, CV defects, CDH, syringomelia. Macroscopically = spongelike w/ multiple small cysts.

Type 3: Uncommon, almost all ♂, involves + expands a whole lobe w/ compressn of other lobes +/- hypoplasia. Macroscopic: soild. Absent pulm. arteries. ~Same as pulmonary hyperplasia.

Type 4: V. rare, peripheral thin walled cysts,(alveolar type 1, 2 cells), often
multiloculated. Continuum w/ type I pleuropulmonary blastoma (PPB). ∴If stroma hypercellular -
treat as PPB.

30
Q

Characteristics of Pulmonary Sequestration

A

Pulmonary tissue, isolated from fxning lung w/ systemic arterial supply.

Two variants: Intrapulmonary > Extralobar sequestration

Pathological classification: “complex bronchopulmonary-foregut malformation”

Intralobar - usu posterior basal LLL. More than 50% diagnosed as adult - often asymptomatic.
- Usually drain into pulmonary system (=shunt)
Extralobar - usu beneath LLL, 15% abdominal. More often detected in neonates - assoc abn
- Usu. drain into azygous

Both types: pulmonary tissue cystic w/ disorganized, airless alveoli, bronchi, cartilage, etc.
May becomes inftected, atelectattic, bronchiectatic. Histologically similar to Type-2 CPAM.

Treatment: Surgical excision. Vascular supply delineated prior. Collateral embolizatn considered

31
Q

Characteristics of Congenital Large Hyperlucent Lobe

A

Presentation 50% neonatal, other early infancy
Etiology - partial obstruction - (IE mucosal flaps, deficient bronchial cartillage).
-Histologically: Majority = Normal alveolar count but w/o maturation

Affected area: LUL (42%), RML (35%), RUL (21%), LLs (2%)

Lobe overdistends (may heniate), displaces adjacent lobes + mediatinal structures

Diagnosis: Following presentation of resp distress, or incidentally on CXR later in life Presentation in Infancy:

Findings similar to tension PTX: hyperresonance, decr breath sounds, deviatn of mediastinum -CXR: hyperlucent lobe w/ compressionn of adjacent/contralat lobes/structures, depressedd diaphragm

NB Difficult to differentiate distended lobe from contra-lateral hypoplasia

  • Bronchoscopy may reveal cause of intrinsic obstruction (IE FB, inspissated mucous)
  • CT may be useful to R/O contra-lateral hypoplasia
32
Q

2 groups of Congenital Large Hyperlucent Lobe

A

Intrinsic bronchial obstruction: inspissated material/mucous, granuloma (intubatn), bronchial stenosis/atresia (Pores of Kohn)

Extrinsic comp: congenital heart disease / abn great vessels (more gradual), bronchogenic cysts.

Also: Contra-lateral small lung: absent lung, hypoplastic lung, contra-lateral lobar/lung collapse

33
Q

Characteristics of TEF

A

Etiology - Isolated EA = deletions in gutrathione S-transferase gene
- Syndromic: CHARGE (CHD7 mut), VACTERL (FOXF1 or ZIC3 poly-ala exp)
Pathology - incomplete mesodermal separation of the primitive foregut → fistula

  • TEF commonly assoc w/ EA. 85% of EA assoc. With fistula.
  • Upper pouch usu large, blind sac - distal portion typically at level of lower trachea -Lower esophageal segment small - originates from distal membranous trachea, carina or right mainstem
34
Q

Most common type of TEF

A

-EA with Distal-TEF most common

35
Q

Associations with TEF

A
  • 2⁄3 have assoc abn -20% have BW <5th %ile
  • Assoc. w/ Charge, Vacterl.
  • 6% of Trisomy 13,18,21.
  • Other: Potter’s, PRS, polysplenia, DiGeorge,
  • Cardiac anomalies: 30-50%
  • 47% tracheobronchial anom: tracheomalacia, lung agenesis/hypoplasia, ectopic bronchi, glossoptosis, airway obstruction
  • Aspiration = common
  • Vertebtal/skeletal anomalies 20-50% -Higher risk: cleft lip, duodenal atresia
36
Q

Presentation of TEF

A
  • Polyhydramnios: 85% in isolated EA, 32% TEF -Antenatal U/S not reliable: false-pos 50%
  • At birth: frothing, choking, cyanotic spells despite oral sxn -Birth weight, other anomalies important for prognosis
  • Attempt to pass OG-tube → CXR = coiled in esophagus -Presence/absence bowel gas → +/- TEF
  • ECHO to r/o anomalies incl right Ao arch
37
Q

Long term complications of TEF

A

-Tracheomalacia common - “brassy” TEF cough a feature -Recurrent aspiration common - look more missed laryngeal cleft -17% fundoplication for severe reflux, 25% dysphagia at 2-years
-Long-term outcomes good.
Early mortality related to other anomalies

38
Q

2 groups of abnormalities for Congenital Disease of the Systemic Arterial Tree

A

1) Vascular Rings
a) Right arch with left ligamentum arteriosum / PDA
b) Double AO Arch
c) Anomalous innominate or left carotid
d) Aberrant right subclavian
e) PA Sling (AKA Left PA from Right +/- crossover from left-PA supplying RUL)

2) Abn collaterals from the Ao supplying CTM or Normal lung
- More common in absent PA, and/or may be part of a complex PAVM

39
Q

Characteristics of Scimitar Syndrome

A

= small right lung → cardiac dextroposition,

abn shadow representing abn venous drainage to systemic veins.

40
Q

Genetic association with Alveolar Capillary Dysplasia

A

FOXF1 mutation

Misaligned lung vessels → failure of capillaries to grow in appropriate # / location
Misaligned vessel = Abnormally sited pulmonary veins
Rare cause of severe hypoxemia, resp distress and pulmonary HTN

41
Q

Characteristics of Pulmonary AVMs

A

=direction cnxn between a PA and PV

Etiology: Many assoc. w/ HHT (AD genetic d/o assoc / epistaxis, telangiectasia, visceral AVMS) -HHT1 = endoglin (ENG) mut; HHT = ACVRL1 (ALK-1) mut

Pres: cyanosis, dyspnea, clubbing or complicatn (hemoptysis, neuro = TIA/stroke/abscess)

Lower lobe 60%, Single 60%, Unilat 75%. Single feeding artery w single draining vein 80%
Numerous communications or diffuse PAVMs possible

Diagnosis: Document R→L shunt. Screen: Contrast Bubble ECHO = primary. (Pc99m lung perfusn scan used prev). -Diagnosis confirmed via CT Angio

Embolization for PAVMs >3mm by IR

42
Q

Primary vs Secondary Pulmonary Lymphangiectasia

A

1) Primary = either limited to lung, or involving whole body High assoc. w/ other abn: asplenia, cardiac anom
2) Secondary = due to obstruction of either lymphatic system or pulmonary veins -Causes severe resp distress - often fatal in neonatal period - but milder cases descbd

43
Q

Characteristics of Congenital Diaphragmatic Hernia (Bochdalek’s)

A

Pathologic Anatomy: 80% left-sided via pleuroperintoneal canal. B/L rare. -Defect w/n diaphragm itself, diaphragm may be developed or deficient, -Usu no membranous sac, present in 10-15%
-Intestine, stomach, spleen, liver may all herniate.

Differential Dx: extensive congenital cystic lung dz, Morgagni anterior hernia, paraesophageal hiatus hernia, eventration

  • Long-term: GI, Resp, FTT problems 2° to REFLUX and oromotor dysfxn common. -Lung fxn: Variable: Nrml, Obstructive, Restrictive or mixed. V/Q scans abn
  • Bronchial hyper-reactivity common - more related to distal a/w dysfxn than inflammation
44
Q

Characteristics of Anterior Diaphragmatic Hernia (Morgagni Hernia)

A

Herniation through foramen of morgagni -Rarer. Do not typically present as neonates.
-Usually bilateral. IF unlateral R>L. Almost always assoc with hernial sac.
-Assoc with Cardiac Anom. Assoc with pentalogy of Cantrell.
-Principles of repair = same. Defect generally smaller - therefore sutures > patch. -Outcomes: Excellent. Determined by any other anomalies.
Long-Term: mild airflow obstructn, bronchial hyper-reactivity. Chest wall asym, scoliosis.

45
Q

Characteristics of Diaphragmatic Eventration:

A
  • Congenital (rare) - from incomplete development of muscular portion of diaphragm or its innervation
  • More common on Left.
  • Described in fetal rubella, congenital CMV
  • Assoc anomalies: rib, cardiac, renal ectopia, exomphalos
  • Acquired (most often due to phrenic nerve injury - instrumental delivery, chest tube or cardiac sx)
  • Assoc w/ Erb’s palsy
  • Presentation: Usu by chance on CXR.
  • Diagnosis: Confirmation w/ U/S = paradoxical movement of diaphragm
  • Treatment: usu none. If large repair followed by plication.
46
Q

Features for risk of malignant transformation of CPAM to PPB

A

Bilateral CTM
Type 4 CTM (~10%)
Family history of PPB, lung cysts or renal anomalies
Close relative with childhood malignancy (especially Wilm’s or medulloblastoma)
Heterozygous germline mutation in DICER1

Respirology (28 decks)

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