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Respirology > Congenital Lung Anomalies (Raf) > Flashcards

Congenital Lung Anomalies (Raf) Flashcards

1
Q

Most common type of congenital lung anomaly?

A

CPAM - congenital pulmonary airway malformation

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2
Q

Second most common type of congenital lung anomaly?

A

Pulmonary sequestration

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3
Q

What is the most common cause of stridor in newborns?

A

Laryngomalacia

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4
Q

What is the second most common cause of stridor in newborn?

A

Vocal cord paralysis

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5
Q

What are the symptoms of unilateral versus bilateral vocal cord paralysis?

A

Unilateral: no airway obstruction, but issues with aspiration and phonation
Bilateral: issues with airway obstruction, no issues with phonation of aspiration

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6
Q

Is congenital vocal cord paralysis usually bilateral or unilateral? Is further work up required?

A
  • Bilateral
  • MRI brain for look for chiari malformation or hydrocephalus.
    another cause: myasthenia gravis
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7
Q

Is acquired vocal cord paralysis usually unilateral or bilateral? Causes?

A
  • Unilateral and more often left sided since longer course of recurrent laryngeal nerve
  • Often post op: cardiac surgery, TEF repair , thyroid surgery
  • can happen post birth trauma (congenital) or if mediastinal mass is present
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8
Q

What is the treatment for a newborn with vocal cord paralysis?

A
  • Unilataral: may medialize the cord, feeding interventions since risk of aspiration, but no permanent interventions for the first year since there can be spontaneous recover
  • Bilateral: MOST need tracheostomy, 1/2 of those with an idiopathic cause will spontaneously recover by end of first year (Trach and wait)
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9
Q

Which muscle separates vocal cords for normal breathing?

A

Posterior cricoarytenoid

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10
Q

What type of flow volume is seen with vocal cord paralysis?

A

Variable extrathoracic obstruction

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11
Q

What type of flow volume loop is seen with tracheomalacia?

A

Variable extrathoracic obstruction

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12
Q

What can cause fixed extrathoracic airway obstruction?

A

Tracheal stenosis
Goitre
Subglottic stenosis
Tracheostomy tube

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13
Q

Examples of vascular rings? Most common?

A

Most common: double aortic arch
Second most common: right aortic arch with aberrant left subclavian
Others:
- left aortic arch with aberrant right subclavian and ductus arteriosus
- circumflex aorta

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14
Q

Symptoms of vascular ring

A

More often respiratory than GI presentation

  • Esophageal symptoms don’t usually present till patients begin solid food
  • Respiratory symptoms: stridor, wheeze, apnea, noisy breathing, barking cough, frequent respiratory infections, cyanosis
  • GI symptoms: slow eating, extension of neck during feeds, food being stuck in throat
  • Double aortic arch: often presents in first month of life
  • Right aortic arch with aberrant left subclavian: usually presents at 1-6 months of age
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15
Q

Anomaly associated with pulmonary artery sling?

A

Complete tracheal rings

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16
Q

Pattern of indentation associated with vascular rings?

A
  • Double aortic arch: anterior trachea and posterior esophagus, both with bilateral compression
  • right arch with aberrant left subclavian: bilateral anterior trachea and posterior esophagus compression, but compression is greater on right than left side
  • Pulmonary artery sling: compress anterior esophagus and posterior trachea (compression of right main bronchus and trachea displaced to right)
  • Aberrant right subclavian: posterior esophageal indentation, generally normal trachea on bronch
17
Q

Describe genetics of AAT

A
  • M = normal allele
  • PI*MM = homozygous for the normal gene
  • PI*ZZ = homozygous for the Z allele, which is the most common mutation. Eg. Z mutation corresponds to a point mutation of Glu342Lys
  • PI*SZ = two different mutation of the gene, increased risk for emphysema
  • PI*SS = no increased risk of emphysema
18
Q

Indications for genetic testing of AAT

A
  • If a child is symptomatic from liver disease of no clear etiology–>grade A recommendation
  • Surpisingly, adolescent with persistent airflow obstuction–?grade B recommendation, though for adults this ends up being a grade A recommendation
  • Sibling of an individual with AAT deficiency–>grade A
  • Offspring of an individual with AAT deificency–>grade B recommendation
  • WHO: early onset COPD or adult onset asthma
19
Q

Follow up for AAT, but asymptomatic

A
  • spirometry every 6-12 months
20
Q

AAT level that would signify deficiency?

A

<20 micromol/L (ATS 2003 statement(

21
Q

If you are suspicious for AAT, what are the series of steps for diagnosis?

A
  • Start with AAT level in blood, then genetic testing (start with testing common variants, before pursuing gene sequencing). This approach is similar to CF, where we would start with the functional test of the sweat chloride
22
Q

Does PI*MZ have an increased risk for COPD?

A

If never smoker, then no increased risk for COPD

If they are a smoker, then increased risk for COPD

23
Q

When considering genetic testing in asymptomatic relatives of patient with AAT, what should you consider?

A
  • genetic counselling to discuss risks/benefits (eg. pyschological effect, genetic discrimination)
  • informed consent
  • consider testing the other parent before testing a child who is unable to consent
24
Q

Inheritance of AAT?

A

Autosomal co-dominant (but it basically behaves like autosomal recessive)

25
Q

What are associated anomalies you should consider in a TEF patient?

A

Often associated abnormalities (2/3 of cases), though less likely to have associated abnormalities fo H type

  • Think about cardiac anomalies
  • Associated with VACTERL and CHARGE syndrome:
    • Vertebral, anal, cardiac, tracheoesophageal, renal, radial limb
    • Coloboma, heart, choanal atresia, retardation of growth, genital hypoplasia, ear
    • Associated with trisomy 21, 13, 18
  • Can have associated tracheobronchial anomalies: tracheomalacia, lung agenesis, ectopic bronchi
26
Q

Long term complications of TEF?

A

Even after repair, the trachea and esophagus are still abnormal:

  • Reflux
  • Aspiration
  • Esophageal stricture or obstruction
  • tracheomalacia
  • bronchospasm
  • recurrence of fistula
27
Q

What is the most common type of TEF?

A

Type C - proximal atresia and distal fistula

28
Q

Which type of TEF does not have esophageal atresia?

A

H type (which is type E)

29
Q

Which type of TEF does not have a fistula?

A

Type A - esophageal atresia, but no fistual

30
Q

What are the stages of lung development?

A 
Embryonic (3-6 weeks)
Pseudoglandular (6-16 weeks)
Canalicular (16-26 weeks) 
Saccular (26-36 weeks) 
Alveolar (36 weeks to adolescence) 
(Every pulmonologist can see alveoli)
31
Q

Describe the key points of what happens are each stage of lung development

A

Embryonic: basic branching architecture till 6th generation. Trachea and esophagus are separating
Pseudoglandular: form up to terminal bronchiole and primitive acinar structure, but there is no capacity for gas exchange
Canalicular: formation of respiratory bronchioles and acinar tubules. Formation of alveolar capillary membrane. If there is preterm birth, then gas exchange can be supported if surfactant is given. (There is a small amount of surfactant production and giving glucocorticoids will increase this)
○ saccular (26- 36 weeks)- surfactant ,thinning of alveolocapillary membrane
○ alveolar(from 36 weeks)-septation, proliferation, and thinning of the alveolar walls and tubular elongation of airways

32
Q

Give examples of lung malformation that can happen at different stages of lung development

A 
Embryonic: 
o   Laryngotracheal malformation
o   TEF
o   Esophageal atresia, stenosis
o   Tracheal stenosis
o   Defects in pulmonary lobe formation
o   Pulmonary hypoplasia, agenesis
o   Bronchogenic cyst
o   Ectopic lobe
o   Extrapulmonary sequestration

Pseudoglandular:

  • Tracheomalacia
  • Bronchomalacia
  • Intralobar bronchopulmonary sequestration
  • Congenital pulmonary airway malformation
  • Acinar dysplasia
  • Alveolar capillary dysplasia +/- misalignment of pulmonary veins
  • Congenital pulmonary lymphangiectasia
  • Pulmonary vascular malformation
  • Diagphragmatic hernia

Cannalicular:
Alveolar dysplasia, alveolar capillary dysplasia, pulmonary hypoplasia of various causes (CDH, thoracic mass, renal agenesis, oligo)

33
Q

CCHS gene mutation?

A

PHOX2B

Inheritance: autosomal dominant

34
Q

Monitoring for CCHS patient?

A

All patients need annual PSG, neurocog assessment, echo, holter, optho evaluation (frequency not specified), clinical assessment for hirscupsrung disease
For patient with PARM 28-33/20: annual CXR/abdo U/S to look for neural crest tumor
For patients with NPARM: abdo U/S and urine catecholamine q3 month till 2 years, then every 6 months till 7 years

35
Q

Which nerve is responsible for unilateral vocal cord paralysis and which root does it come form?

A
  • Recurrent laryngeal nerve, which comes from vagus nerve (CN 10)

Respirology (28 decks)

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