Cardio

Question 1

what are the various types of cardio disease?

Answer 1

structural, cardiomyopathies, connective tissue, channelopathies, familial dyslipidemia, coronary artery disease

Question 2

what type of genetic testing might you use for structural heart disease w/ extracardiac manifestations?

Answer 2

chromosomal (think syndrome)

Question 3

what type of genetic testing might you use for structural heart disease w/o extracardiac manifestations?

Answer 3

chromosomal or sequencing/panel

Question 4

what type of genetic testing might you use for heart disease affecting only the heart muscle (i.e. cardiomyopathy)?

Answer 4

sequencing

Question 5

what type of genetic testing might you use heart disease with ECG abn or arrhythmia?

Answer 5

channelopathy -> sequencing

Question 6

what should we look for in a FHx if we suspect CHD? What accidents can point to cardiac?

Answer 6

maternal hx including exposures

CHD

need for heart surgery, pacemaker or ICD

syncope (with exertion), seizures, sudden death, SIDS, stillbirths, or miscarriages

unexplained car accidents, drawings, etc.

Question 7

what condition is associated with “people at the bottom of the pool”?

Answer 7

Long Qt syndrome

Question 8

what cardiac features can we see in 45,X/Turner syndrome? what workup do they need?

Answer 8

left-sided lesions:

aortic stenosis/bicuspid aortic valve; coarctation; HLHS

CMA, 4-exBP, ECho

Question 9

what is the yield of CMA in hypoplastic left heart syndrome?

Answer 9

10% have a syndrome

25% have a VUS

Question 10

what is the most common CHD? what gene is implicated and what should you do with relatives?

Answer 10

bicuspid aortic valve

NOTCH1

eval of FDRs

Question 11

what is the yield of WES and WGS in non-syndromic CHD?

Answer 11

2% in WES will have LP mutation

8% with CHD in WGS

Question 12

What is the yield of genetic testing in the peds population for HCM, LVNC, RCM, ARVC, DCM (cardiomyopathies)?

Answer 12

70% HCM, 10% LVNC, 60% RCM, 80% ARVC, 30% DCM

Question 13

what are some of the major genes associated with pediatric CHD?

Answer 13

TTN (1:5 KIDS WITH DCM)
LMNA
MYH7
TNNT2
SCN5A

Question 14

Congenital long QT syndrome, short QT syndrome, Brugada syndrome, CPVT and Idiopathic VF are examples of: ________. GT yield for each?

Answer 14

channelopathies

LQT -> 75%
SQT -> 20%
Brugada -> 30%
CPVT -> 65%
Idiopathic VF -> 20%