Genetic Basis of SCA-Associated Disease

Question 1

True or false: SCD happens independent of age

Answer 1

True

Question 2

What are the 5 types of heritable cardiovascular diseases?

Answer 2

CM, channelopathies, aortopathies, structural, familial dyslipidemia

Question 3

Should a gene panel come before or after a clinical dx for CM/channelopathies?

Answer 3

After

Question 4

In cases of sudden death in children, what is the proportion of children who have a heart muscle condition?

Answer 4

2/3

Question 5

What is the most common pediatric CM?

Answer 5

HCM

Question 6

True or False: cardiac channelopathies can be seen by cardiac imaging or autopsy

Answer 6

False

Question 7

What is the genetic yield for the 5 types of channelopathies?

Answer 7

• Long QT (75%)
• CPVT (65%)
• Brugada (30%)
• Short QT (20%)
• Idiopathic VF (20%)

Question 8

What are the implications of making the wrong call for a VUS?

Answer 8

• pathologic variants –> inappropriate therapies, interventions, psycho-social impact
• physiologic variants –> failure to treat, no mitigation of life-threatening risk

Question 9

1 in ___ channelopathy gene variants will have a change in pathogenicity in ClinVar

Answer 9

10

Question 10

Are variant calls becoming more or less certain?

Answer 10

Less