Pathology: Pediatric Cardiology I and II

Question 1

Overview of Congenital Heart Disease

• What do most defects that allow live birth have in common?
• What is the most common defect?
• When do most defects occur during gestation?
• What are the environmental causes of CHD?
• What are the common genetic causes?

Answer 1

• What do most defects that allow live birth have in common?
  
  • Effect a single chamber region of the heart
• What is the most common defect?
  
  • VSD
• When do most defects occur during gestation?
  
  • Between weeks 3 and 8
• What are the environmental causes of CHD?
  
  • Rubella, teratogens, maternal diabets
• What are the common genetic causes?
  
  • Trisomies
    
    • 13, 15, 18, 21
  • Turner Syndrome

Question 2

What are the 5 key steps in correct cardiac development?

Answer 2

Question 3

What are the 6 key molecular pathways needed for correct cardiac development?

Answer 3

Question 4

Overview

• What is the type of inheritance do most genetic defects follow?
• What 3 key transcription factors are needed to coregulate the target genes for proper cardiac involvement?

Answer 4

Question 5

DiGeorge Syndrome

• What chromosome is implicated in half of these patients?
  
  • What are the 5 main conditions/signs of mutations of this chromosome?
• What developmental structures are affected by this mutation?
  
  • What organs are thus affected (besides the heart)?

Answer 5

Question 6

CATCH 22

• What is the gene implicated most in CHD?
  
  • What 2 key functions does it have related to development?

Question 7

Genetics of CHD

• What condition affects the X chromosome that is implicated in many cases of CHD?
• What is the most common genetic condition associated with CHD?
  
  • What is the most common structure that is affected by this condition?

Answer 7

Question 8

• What are the common left to right shunts?
• What are the common right to left shunts?

Answer 8

• What are the common left to right shunts?
  
  • ASD
  • VSD
  • PDA
• What are the common right to left shunts?
  
  • TOF
  • TGV
    
    • w/ VSD
    • w/o VSD

Question 9

What is the biggest indication/sign of R-L shunts? Why?

Answer 9

Question 10

Left to Right Shunts

• What happens to the blood flow to the pulmonary circulation?
  
  • What does this do the lung vascular resistance?
  • How does this affect heart development?
• What L to R shunts eventually cause if untreated?

Answer 10

Question 11

How can you reverse the significant pulmonary HTN seen in L to R shunts?

Answer 11

You can’t

Question 12

Patent Foramen Ovale

• What are the 2 fenestrations that eventually become the foramen ovale?
• How common is this condition?
• What can it lead to?
  
  • How can it manifest clinically?

Answer 12

Question 13

ASDs

• What is the most common developmental structure associated with ASDs?
  
  • What is the common name for this type of defect?
• Hemodynamic induced changes
  
  • What happens to the right atria and ventricles?
    
    • What happens to the RV alone?
  • What happens to the pulmonary artery?
  • What is the mechanical reason for the changes?

Answer 13

Question 14

ASDs

• What defect usually affects the lowest part of the atrial septum?
  
  • What valves are implicated in this?
• What defect usually affects the highest part of the atrial septum?
  
  • How does affect flow in the pulmonary veins?

Answer 14

Question 15

Clinical Features of ASD

• When do symptoms manifest?
• This is a hole in between the atria. Why is this a L to R shunt and not an R to L shunt?
• Why would someone develop pulmonary hypertension from this?
• What is the Tx for it?

Answer 15

Question 16

VSDs

• How common is this defect?
• Why do most VSDs occur at the basal (membranous) region of the ventricular septum?
• Does this defect usually occur in isolation or with other cardiac defects?

Answer 16

Question 17

VSDs

• What happens to the right ventricle?
• What happens to the pulmonary artery? Why?

Answer 17

Question 18

VSDs

• Small to medium VSDs
  
  • These may be asymptomatic, and many close spontaneously if they are in the muscular portion. However, they can still cause pathology. How?
• Larger VSDs
  
  • These are associated with pulmonary hypertension, just like ASDs. How does the pulmonary HTN differ with VSDs, compared to ASD?

Answer 18

Question 19

PDA

• Where is a normal ductus arteriosis located?
• Normally, when/Why does the ducts close? (3 reasons why)
• What is left after the patent ductus arteriosis completely obliterates?

Answer 19

Question 20

PDA

• What can cause the ductus to not close or at the very least delay the closing?
• How common is this?
  
  • Does it usually occur with some other pathology?

Answer 20

Question 21

PDAs

• What type of carditis can occur with this defect?
• Why would you suspect this upon physical examination?
• How do small PDAs present?
• Large PDA: What condition can manifest?
• What 2 conditions could a PDA be a life-saving for?
  
  • What would be needed in order to keep a PDA open?

Answer 21

Question 22

R to L shunts

• What is the early sign of these? Why does it occur?
• What are the 3 common clinical consequences that these shunts have? (different than the above question?
• What are the 2 common conditions associated with this?

Answer 22

Question 23

TOF

• What are the 4 cardinal features of this?

Answer 23

Question 24

TOF

• What shape does the heart have? Why?
• What happens to the aorta and pulmonary trunk?
• What happens to the left side of the heart?

Answer 24

Question 25

TOF

• Is the VSD small or large?
• Where does it occur in the septum?
• What causes the right ventricular flow obstruction?

Answer 25

Question 26

TOF

• Hemodynamics
  
  • What happens to pulmonary blood flow?
  • What happens to aortic volumes?
• What does the severity of this condition largely depend on?

Answer 26

Question 27

TOF

• Why would TOF present as isolated VSD?
• Pulmonic Stenosis
  
  • What condition can this cause early in life?
  • As the patient gets older, pulmonic stenosis can be a “good” thing. Why?

Answer 27

Question 28

TOF

• What are the typical manifestations of cyanotic heart disease?
• Can you cure a TOF?
• What do all R to L shunts increase the risk for?

Answer 28

Question 29

TGA

• Where does the aorta arise from? Pulmonary artery?
• What is the functional outcome?
• What other defects occur with this condition?
• What happens to each ventricle?

Answer 29

Question 30

TGA

• What is the dominant manifestation of this?
• What are the 3 factors that predict prognosis?
• What are some examples of congenital obstructions?

Answer 30

Question 31

COA

• What kind of congenital heart defect is this? What other common defects are in this group?
• What other defect is seen in almost half of the cases?
• What gender gets this more?
• What genetic condition is associated with this?
• What are the two types?

Answer 31

Question 32

COA

• Preductal Coarctation
  
  • Where does the narrowing occur?
  • Where does the deoxygenated blood go?
  • What happens to the pulmonary trunk?
  • What happens to the right ventricle?
• Postductal
  
  • What happens to the aorta?
    
    • Where does it dilate?
  • What happens to the left ventricle?

Answer 32

Question 33

Clinical Features of COA

• Preductal with a PDA
  
  • What happens the lower body?
• Postductal without PDA
  
  • Why would this not be dx until later in life?
• What happens to the upper extremity blood flow?
• What happens to vessels around the coarctation, and how is the seen in an x-ray?
• What can heard/felt upon PE?
• How do you treat this?

Answer 33