0.1 Embryological Diseases

Question 1

What mechanism fails in laryngeal atresia?

Answer 1

Recanalization

Question 2

What is laryngomalacia?

What is the cause?

Answer 2

Collapse of the supraglottic structures during inspiration.

Cause unknown

(Also called congenital laryngeal stridor)

Question 3

What fails in a tracheoesophageal fistula?

Bonus: in what week does the failure occur?

Answer 3

Tracheoesophageal septation

Week 5

Question 4

What are the symptoms of a tracheoesophageal fistula?

Answer 4

Hacking and coughing while feeding (difficulty feeding)

Recurrent airway infections

Question 5

What can be caused by oligohydramnios?

Answer 5

Lung underdevelopment

(pulmonary hypoplasia)

Question 6

What are the symptoms of hyaline membrane disease?

Answer 6

Tachypnea

Grunting

Suprasternal, intercostal, or subcostal retractions

Nasal Flaring

Cyanosis

Question 7

What is the cause of hyaline membrane disease (respiratory distress syndrome)?

Answer 7

Irreversible changes in the type II pneumocytes make them incapable of producing surfactant.

Question 8

What are the symptoms of a congenital diaphragmatic hernia?

Answer 8

Respiratory distress

Lung hypoplasia

Cyanosis

Barrel Chest

Absent breath sounds

Scaphoid shaped abdomen

Displaced heart sounds

Question 9

What diseases are associated with polyhydramnios?

Answer 9

Trachoesophageal fistula

Esophageal atresia

Question 10

What is the main finding for congenital lung cysts?

What is the hypothetical cause?

Answer 10

Honeycomb like appearance in X-Rays

Disturbance in bronchial devlopment during late fetal life

Question 11

Is patent ductus arteriosus acyanotic or cyanotic?

Answer 11

Acyanotic

Question 12

High levels of prostaglandin E2 can lead to what congenital abnormality?

Answer 12

Patent ductus arteriosus

Question 13

What are the clinical manifestations of a large PDA?

Answer 13

Continuous murmur

Poor eating

sweating with crying or eating

rapid heart rate

Easily tires

Tachypnea

Question 14

Is an atrial septal defect cyanotic or acyanotic?

Answer 14

Acyanotic

Question 15

What are the three types of atrial septal defects we covered?

Answer 15

Foramen primum

Foramen secundum

Probe patent foramen ovale

Question 16

Are ventricular septal defects cyanotic or acyanotic?

Answer 16

Acyanotic

Question 17

What is seen in a partial atrioventricular septal defect?

Answer 17

Primum atrial septal defect, with a common opening into the valves, but with both cuspid valves intact.

Question 18

What defect always goes along with a patent truncus arteriosus?

Answer 18

Ventricular septal defect

Question 19

Tetralogy of Fallot presents with four features, what are they?

What cardiac “defect” is necessary for life in these patients?

Answer 19

Pulmonary stenosis

Right ventricular hypertrophy

Overriding aorta

Interventricular Septal Defect

Patent ductus arteriosus

Question 20

If a neonatal patient turns cyanotic after crying, what diagnosis can be expected?

Answer 20

Tetrology of Fallot

(“Tet” spells)

Question 21

What is the embryological basis for the tetrology of fallot?

Answer 21

Abnormal septation of the outflow tract

(Neural crest)

Question 22

What is the embryological basis for an atrioventricular septal defect?

What three features do we typically see related to these cases?

Answer 22

Failure of the endocardial cushions to fuse.

ASD

VSD

Abnormal valve leaflets

Question 23

What cardiac malformation is often seen in children with Down’s syndrome?

Answer 23

Atrioventricular septal defect

Question 24

Is a corrected transposition of the great vessels cyanotic or acyanotic?

Answer 24

Acyanotic

Question 25

Is transposition of the great vessels cyanotic or acyanotic?

Answer 25

Cyanotic PDA is necessary for life

Question 26

Is a double outlet right ventricle cyanotic or acyanotic? What is the embryological mechanism that describes this defect?

Answer 26

Cyanotic Abnormal migration of bulbar ridges Misalignment of ventricular septum

Question 27

Is a patent truncus arteriosus cyanotic or acyanotic? What causes this defect?

Answer 27

Cyanotic Bulbus cordis and truncus arteriosus doesn't develop the bulbar and truncal ridges.

Question 28

Is critical pulmonary stenosis cyanotic or acyanotic?

Answer 28

Cyanotic

Question 29

What disease can occur as a result of critical aortic stenosis?

Answer 29

Hypoplastic left heart syndrome

Question 30

What defects must patients with hypoplastic left heart syndrome have to survive?

Answer 30

Patent ductus arteriosus Atrial septal defect

Question 31

What are the primary symptoms of a coarctation of the aorta?

Answer 31

Exaggerated pulse in the upper extremity and diminished pules in the lower extremity.

Question 32

What is the embryological cause of a double aortic arch?

Answer 32

Failure of the right dorsal aorta to disintegrate after forming the part of the right subclavian

Question 33

What is the embryological cause of an interrupted aortic arch?

Answer 33

Obliteration of the **left and right** 4th aortic arch (The left portion of the 4th normally creates the left portion of the aortic arch)

Question 34

What disease is associated with DiGeorge Syndrome?

Answer 34

Interrupted aortic arch syndrome

Question 35

What provides blood to the lower extremity in an interrupted aortic arch?

Answer 35

Patent ductus arteriosus and a ventricular septal defect. The ventricular septal defect allows oxygenated blood to enter the pulmonary artery, and the patent ductus arteriosus actually ports the partially oxygenated blood to the lower extremity.

Question 36

What is the embryological cause of abnormal origin of the right subclavian artery?

Answer 36

The right subclavian originates from the distal part of the right dorsal aorta instead of the proximal part. The right 4th aortic arch and the proximal part of the right dorsal aorta obliterate.

Question 37

What is the embryological mechanism behind a right aortic arch?

Answer 37

The left 4th aortic arch and the left dorsal aorta obliterate and are replaced by the corresponding vessels on the right side.

Question 38

What is the embryologic mechanism for a left superior vena cava?

Answer 38

Persistence of the left anterior cardinal vein Obliteration of the common cardinal and proximal part of anterior cardinal on the right

Question 39

What is the embryological mechanism for a double superior vena cava?

Answer 39

Persistence of the left anterior cardinal vein Failure of the left brachiocephalic vein to form