0.1 Embryological Diseases Flashcards
What mechanism fails in laryngeal atresia?
Recanalization
What is laryngomalacia?
What is the cause?
Collapse of the supraglottic structures during inspiration.
Cause unknown
(Also called congenital laryngeal stridor)
What fails in a tracheoesophageal fistula?
Bonus: in what week does the failure occur?
Tracheoesophageal septation
Week 5
What are the symptoms of a tracheoesophageal fistula?
Hacking and coughing while feeding (difficulty feeding)
Recurrent airway infections
What can be caused by oligohydramnios?
Lung underdevelopment
(pulmonary hypoplasia)
What are the symptoms of hyaline membrane disease?
Tachypnea
Grunting
Suprasternal, intercostal, or subcostal retractions
Nasal Flaring
Cyanosis
What is the cause of hyaline membrane disease (respiratory distress syndrome)?
Irreversible changes in the type II pneumocytes make them incapable of producing surfactant.
What are the symptoms of a congenital diaphragmatic hernia?
Respiratory distress
Lung hypoplasia
Cyanosis
Barrel Chest
Absent breath sounds
Scaphoid shaped abdomen
Displaced heart sounds
What diseases are associated with polyhydramnios?
Trachoesophageal fistula
Esophageal atresia
What is the main finding for congenital lung cysts?
What is the hypothetical cause?
Honeycomb like appearance in X-Rays
Disturbance in bronchial devlopment during late fetal life
Is patent ductus arteriosus acyanotic or cyanotic?
Acyanotic
High levels of prostaglandin E2 can lead to what congenital abnormality?
Patent ductus arteriosus
What are the clinical manifestations of a large PDA?
Continuous murmur
Poor eating
sweating with crying or eating
rapid heart rate
Easily tires
Tachypnea
Is an atrial septal defect cyanotic or acyanotic?
Acyanotic
What are the three types of atrial septal defects we covered?
Foramen primum
Foramen secundum
Probe patent foramen ovale
Are ventricular septal defects cyanotic or acyanotic?
Acyanotic
What is seen in a partial atrioventricular septal defect?
Primum atrial septal defect, with a common opening into the valves, but with both cuspid valves intact.
What defect always goes along with a patent truncus arteriosus?
Ventricular septal defect
Tetralogy of Fallot presents with four features, what are they?
What cardiac “defect” is necessary for life in these patients?
Pulmonary stenosis
Right ventricular hypertrophy
Overriding aorta
Interventricular Septal Defect
Patent ductus arteriosus
If a neonatal patient turns cyanotic after crying, what diagnosis can be expected?
Tetrology of Fallot
(“Tet” spells)
What is the embryological basis for the tetrology of fallot?
Abnormal septation of the outflow tract
(Neural crest)
What is the embryological basis for an atrioventricular septal defect?
What three features do we typically see related to these cases?
Failure of the endocardial cushions to fuse.
ASD
VSD
Abnormal valve leaflets
What cardiac malformation is often seen in children with Down’s syndrome?
Atrioventricular septal defect
Is a corrected transposition of the great vessels cyanotic or acyanotic?
Acyanotic
Is transposition of the great vessels cyanotic or acyanotic?
Cyanotic
PDA is necessary for life
Is a double outlet right ventricle cyanotic or acyanotic?
What is the embryological mechanism that describes this defect?
Cyanotic
Abnormal migration of bulbar ridges
Misalignment of ventricular septum
Is a patent truncus arteriosus cyanotic or acyanotic?
What causes this defect?
Cyanotic
Bulbus cordis and truncus arteriosus doesn’t develop the bulbar and truncal ridges.
Is critical pulmonary stenosis cyanotic or acyanotic?
Cyanotic
What disease can occur as a result of critical aortic stenosis?
Hypoplastic left heart syndrome
What defects must patients with hypoplastic left heart syndrome have to survive?
Patent ductus arteriosus
Atrial septal defect
What are the primary symptoms of a coarctation of the aorta?
Exaggerated pulse in the upper extremity and diminished pules in the lower extremity.
What is the embryological cause of a double aortic arch?
Failure of the right dorsal aorta to disintegrate after forming the part of the right subclavian
What is the embryological cause of an interrupted aortic arch?
Obliteration of the left and right 4th aortic arch
(The left portion of the 4th normally creates the left portion of the aortic arch)
What disease is associated with DiGeorge Syndrome?
Interrupted aortic arch syndrome
What provides blood to the lower extremity in an interrupted aortic arch?
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.
What is the embryological cause of abnormal origin of the right subclavian artery?
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.
What is the embryological mechanism behind a right aortic arch?
The left 4th aortic arch and the left dorsal aorta obliterate and are replaced by the corresponding vessels on the right side.
What is the embryologic mechanism for a left superior vena cava?
Persistence of the left anterior cardinal vein
Obliteration of the common cardinal and proximal part of anterior cardinal on the right
What is the embryological mechanism for a double superior vena cava?
Persistence of the left anterior cardinal vein
Failure of the left brachiocephalic vein to form
