Congenital I Flashcards
1
Q
What are the six ‘trees’ that form the lung?
A
- bronchial
- arterial (systemic and pulmonary)
- venous (systemic and pulmonary)
- lymphatic
2
Q
Which tree is not considered due to the absence of known congenital abnormalities?
A
bronchial venous drainage
3
Q
What are the three other areas to consider in congenital lung disease?
A
- the heart and great vessels
- the chest wall, including the respiratory neuromuscular apparatus
- the abdomen
4
Q
What is an important multisystem disease to consider in congenital lung disease?
A
tuberous sclerosis
5
Q
What is a common antenatal presentation for congenital lung disease?
A
abnormality detected at the time of a routine fetal anomaly scan
6
Q
What condition is associated with oligohydramnios in bilateral congenital lung disease?
A
pulmonary hypoplasia
7
Q
What is one possible cause of polyhydramnios in antenatal presentations?
A
Pena-Shokeir phenotype
8
Q
What is a key prenatal imaging method for diagnosing congenital lung disease?
A
Ultrasound imaging
9
Q
What imaging technique is superior for diagnosing congenital high airway obstruction syndrome?
A
Fetal MRI
10
Q
What is the prenatal incidence of congenital diaphragmatic hernia (CDH)?
A
1 in 2000
11
Q
What are some abnormalities associated with congenital diaphragmatic hernia?
A
- aneuploidy (Trisomy 18 and 13)
- genetic syndromes (Fryns syndrome)
- structural abnormalities
12
Q
What is the main cause of death in isolated congenital diaphragmatic hernia?
A
pulmonary hypoplasia
13
Q
What is a major clue for diagnosing left-sided congenital diaphragmatic hernia?
A
identification of a cystic structure (the stomach) in the chest
14
Q
What is a significant indicator of poor prognosis in congenital diaphragmatic hernia?
A
liver within the chest and cardiac disproportion before 24 weeks
15
Q
What are favorable prognostic factors for congenital diaphragmatic hernia?
A
- isolated left-sided hernias
- intraabdominal stomach
- diagnosis after 24 weeks
16
Q
What management steps should be taken following the prenatal diagnosis of congenital diaphragmatic hernia?
A
- detailed search for other anomalies
- fetal echocardiography
- consultation with a pediatric surgeon
17
Q
What is the recommended approach for the management of a fetus with CPAM?
A
expectant approach reserved for hydropic fetuses or rapidly expanding lesions
18
Q
What does CPAM stand for?
A
Congenital Pulmonary Airway Malformation
19
Q
What are the two classifications for CPAM?
A
- macrocystic
- microcystic
20
Q
What is common in the presentation of congenital thoracic malformations postnatally?
A
immediate neonatal respiratory distress
21
Q
What is a differential diagnosis for acute unexpected respiratory distress in a term newborn?
A
- congenital lung disease
- congenital infections
- interstitial lung disease
- pneumothorax
- cardiac disease
- primary ciliary dyskinesia
22
Q
What imaging method is only 61% sensitive for detecting lesions compared to high-resolution computed tomography?
A
Chest x-ray (CXR)
23
Q
What is the prognosis for laryngeal or tracheal atresia?
A
invariably poor
24
Q
What genetic syndrome is commonly associated with laryngeal or tracheal atresia?
A
Fraser syndrome
25
What is the definition of an emergent airway?
transition point at which a patient’s O2 saturation becomes difficult or impossible to maintain above 90% during an intubation or procedure
26
What is an Emergent Airway?
The transition point at which a patient’s O2 saturation becomes difficult or impossible to maintain above 90% during an intubation or procedure.
27
What should be done to stabilize a patient before a definitive diagnosis is made?
* Intubation
* Use of oral airways in case of nasal obstruction
* Nursing the child prone in cases of oral/oropharyngeal obstruction
* Use of a nasopharyngeal airway (NPA)
* Immediate tracheostomy if difficulty in intubation
28
What is the purpose of passing a rigid bronchoscope in cases of very abnormal neck anatomy?
To allow ventilation and act as a marker for the trachea within the distorted anatomy of the neck.
29
What is required for successful extubation?
* Optimal respiratory function
* Patent airway
* Sufficient respiratory drive
* Neuromuscular function
30
What is laryngomalacia?
A dynamic condition and the most common cause of stridor in infants.
31
What are the pathophysiological causes of laryngomalacia?
* Neuromuscular immaturity
* Incoordination of the laryngeal muscles
* Collapse of immature cartilaginous supraglottic structures
32
What are the structural variations associated with laryngomalacia?
* Short and vertical aryepiglottic folds
* Prominent cuneiform and corniculate cartilages
* Loose, redundant mucosal covering of the aryepiglottic fold
33
What is the most common symptom of laryngomalacia?
Stridor.
34
When do symptoms of laryngomalacia typically present?
During the first few weeks of life.
35
What is the recommended management for mild laryngomalacia?
Conservative observation and reassurance until symptoms subside with age.
36
What are the types of laryngeal atresia?
* Laryngeal web
* Complete atresia
37
What is CHAOS?
Congenital high airway obstruction syndrome characterized by large echogenic lungs, dilated airway distal to obstruction, inverted diaphragms, and massive ascites.
38
What are the two possible choices for airway intervention in laryngeal atresia?
* Ex utero intrapartum treatment (EXIT)
* Fetal intervention (tracheostomy while still in utero)
39
What is the most common site for laryngeal webs?
Anterior commissure.
40
What is Cohen’s classification system for laryngeal webs?
* Type I: Anterior web involving 35% of the glottis or less
* Type II: Anterior web involving 35%–50% of the glottis
* Type III: Anterior web involving 50%–70% of the glottis
* Type IV: 75%–90% of the glottis involved
41
What is the main symptom of laryngeal webs?
Hoarseness.
42
What is the primary diagnostic tool for laryngeal webs?
Flexible nasoendoscopy.
43
What is the pathophysiology of laryngeal cleft?
Arises from incomplete development of the posterior cricoid lamina and trachea-esophageal septum.
44
What is the main symptom of laryngeal cleft?
Aspiration.
45
How are laryngeal clefts classified?
* Type 1: Interarytenoid cleft down to and including vocal cords
* Type 2: Extension into cricoid cartilage
* Type 3: Extension through cricoid into cervical trachea
* Type 4: Extension into intrathoracic trachea
46
What is the common presentation of vocal cord paralysis?
Inspiratory stridor and weak cry.
47
What are the possible causes of unilateral vocal cord paralysis?
* Nonfunctioning peripheral nerve
* Peripheral nerve pathology
* Mediastinal lesions
* Thoracic surgery
48
What are the diagnostic tools for vocal cord paralysis?
* Awake FNE
* Ultrasonography
* MRI
* CT scanning
* Laryngeal electromyography
* MLB
49
What is the management for bilateral vocal cord paralysis?
* Intubation
* Tracheostomy
* Careful monitoring may avoid tracheostomy in 50% of cases
50
What is the most common site for infantile hemangiomas?
Subglottis.
51
What is the first-line treatment for infantile hemangiomas?
Propranolol therapy.
52
What is the common presentation of congenital subglottic stenosis?
Stridor.
53
What is the first line treatment for management of certain conditions?
Propranolol therapy
## Footnote
Propranolol is a nonselective B adrenergic receptor antagonist that constricts vessels.
54
What are the two main types of Congenital Subglottic Stenosis (SGS)?
* Membranous SGS
* Cartilaginous SGS
## Footnote
Membranous SGS is the most common and milder form, while Cartilaginous SGS results from a deformity of the cricoid cartilage.
55
What is the gold standard for diagnosis and classification of SGS?
MLB (Microlaryngobronchoscopy)
## Footnote
The Cotton-Meyer grading system is used to classify the level of obstruction.
56
What are the grades of obstruction in the Cotton-Meyer grading system?
* Grade I: 0%–50% obstruction
* Grade II: 51%–70% obstruction
* Grade III: 71%–99% obstruction
* Grade IV: No detectable lumen
57
What is a common presentation of Congenital SGS?
Biphasic stridor
## Footnote
It can be mistaken for laryngotracheobronchitis or croup.
58
What is a typical management option for severe cases of SGS?
Surgical correction
## Footnote
Options include cricoid split, laryngotracheal reconstruction, and cricotracheal resection.
59
What is tracheomalacia?
An abnormal collapse of the trachea during the respiratory cycle
## Footnote
It is due to localized or generalized weakness of the tracheal wall.
60
What are the two types of tracheomalacia?
* Primary tracheomalacia
* Secondary tracheomalacia
## Footnote
Primary is an intrinsic abnormality, while secondary involves extrinsic compression.
61
What is the common presentation of congenital tracheomalacia?
Expiratory stridor
## Footnote
It may lead to recurrent acute episodes of stridor and dyspnea.
62
What diagnostic tool is used for tracheomalacia?
Endoscopy
## Footnote
Tracheobronchography is also used, with >25% reduction of the lumen considered significant.
63
What treatment may be considered for severe tracheomalacia cases?
* Surgery for Abnormal Vasculature
* Aortopexy
* Tracheostomy
* Nasal or Tracheostomy Continuous Positive Airway Pressure
* Internal Stents
* External Stents
64
What is congenital tracheal stenosis?
A very rare condition characterized by complete tracheal rings
## Footnote
It may lead to severe respiratory distress and is often associated with other abnormalities.
65
What is the typical management for congenital bronchial atresia?
Usually asymptomatic, detected incidentally on radiography
## Footnote
It may present with recurrent infection.
66
What are two abnormalities associated with bronchial laterality disorders?
* Right isomerism
* Left isomerism
## Footnote
Right isomerism is associated with asplenia, while left isomerism is associated with polysplenia.
67
What is the presentation of congenital tracheobronchomegaly?
Characterized by tracheomalacia and bronchiectasis, with greatly dilated major airways
## Footnote
It may present with recurrent respiratory infections.
68
What is the risk associated with congenital bronchial abnormalities?
Recurrent infections
## Footnote
These can lead to complications such as respiratory distress.
69
What is the typical presentation of tracheoesophageal fistula?
Recurrent bouts of coughing after drinking or hemoptysis
## Footnote
Symptoms may persist for years before diagnosis.
70
What are foregut cysts?
Closed epithelium-lined sacs developing abnormally in the thorax
## Footnote
They can be bronchogenic or enteric in origin.
71
What is congenital bronchomalacia?
A condition that may be isolated or associated with other congenital abnormalities
## Footnote
It often has a good prognosis.
72
What is a significant complication of cystic CTM?
Air embolism
## Footnote
This is rare but may be fatal during air travel.
73
What is the primary diagnostic tool for congenital lung disease?
Radiologic imaging
## Footnote
This includes CT scans and bronchoscopy for confirmation.
74
What are foregut cysts?
Closed epithelium-lined sacs developing abnormally in the thorax from the primitive developing upper gut and respiratory tract
75
What are bronchogenic cysts?
Cysts that differentiate toward airway and contain cartilage in the wall
76
What are enteric (or enterogenous) cysts?
Cysts developing toward the gut, likely of common origin from abnormal division of the embryonic foregut
77
What is the most common type of cyst in infancy?
Bronchogenic (foregut) cyst
78
Where are bronchogenic cysts commonly located?
About 50% are situated in the mediastinum close to the carina, less frequently adjacent to the esophagus and alongside the tracheobronchial tree
79
What symptoms can bronchogenic cysts cause?
Often relate to compression of the airways or complications, such as hemorrhage or infection
80
How is the diagnosis of bronchogenic cysts usually made?
Usually after surgical excision
81
What type of epithelium lines the bronchogenic cysts?
Respiratory-type epithelium
82
What are the potential complications of bronchogenic cysts?
Adenocarcinoma and mucoepidermoid carcinoma
83
What characterizes simple foregut cysts?
Cyst in the absence of cartilage
84
What are the two types of enteric (enterogenous) cysts?
Esophageal cysts and gastroenteric (duplication) cysts
85
What are esophageal cysts characterized by?
Intramural, do not involve the mucosa, lined by either squamous or respiratory-type epithelium
86
Where are gastroenteric cysts typically located?
Close association with the thoracic vertebrae, often in the region of the 6th to the 8th
87
What symptoms are associated with enteric cysts?
Due to pressure, infection, or hemorrhage, often causing a posterior mediastinal mass in infants
88
What is the histological feature of enteric cysts?
Lined by gastric or intestinal mucosa with a muscle layer akin to the muscularis propria
89
What is the most common cause of symptoms in gastroenteric cysts?
Ulceration of gastric mucosa
90
What does CPAM stand for?
Congenital pulmonary airway malformation
91
How many types of congenital pulmonary airway malformations are proposed by Stocker?
Five types (types 0–4)
92
What characterizes Type 0 congenital pulmonary airway malformation?
Acinar dysplasia, rare and nearly always incompatible with life
93
What is the most common type of CPAM?
Type 1
94
What mutations are associated with Type 1 CPAM?
K-RAS mutations
95
What is a histological feature of Type 2 CPAM?
Multiple small cysts related to overgrowth of dilated bronchiolar structures
96
What distinguishes Type 3 CPAM?
Involves and expands a whole lobe, solid with bronchiolar/alveolar duct features
97
What is a characteristic of Type 4 CPAM?
Very rare, peripheral thin-walled cysts, multiloculated
98
What is a rare variant of congenital pulmonary airway malformation?
Diffuse cartilage islands scattered throughout the lung parenchyma
99
What are the postnatal treatment considerations for congenital cystic lung disease?
Treatment decisions depend on size, compression of nearby structures, and complications such as infection
