Cardio

Question 1

Types of heritable cardiovascular diseases

Answer 1

Cardiomyopathies
Aortopathies
Structural
Channelopathies
Familial dyslipidemia

Question 2

Types of cardiomyopathies

Answer 2

Hypertrophic cardiomyopathy (HCM)
Noncompaction cardiomyopathy (NCM)
Restrictive cardiomyopathy (RCM)
Arrhythmogenic cardiomyopathy (ACM)
Dilated cardiomyopathy (DCM)

Question 3

Genetic yield for HCM

Answer 3

70%

Question 4

Genetic yield for LVNC (left-ventricular non-compaction cardiomyopathy)

Answer 4

10%

Question 5

Genetic yield for RCM

Answer 5

60%

Question 6

Genetic yield for ARVC (Arrhythmic right ventricular cardiomyopathy)

Answer 6

80%

Question 7

Genetic yield for DCM

Answer 7

30%

Question 8

Cardiac channelopathies can’t be seen by

Answer 8

cardiac imaging or autopsy

Question 9

Types of channelopathies

Answer 9

Long QT Syndrome
Short QT syndrome
Brugada Syndrome
CPVT (catecolaminergic polymorphic ventricular tachycardia)
Idiopathic VF (ventricular fibrillation)

Question 10

Genetic yield of Long QT Syndrome

Answer 10

75%

Question 11

Genetic yield of Brugada syndrome

Answer 11

30%

Question 12

Genetic yield of short QT syndrome

Answer 12

20%

Question 13

Genetic yield of CPVT

Answer 13

65%

Question 14

Genetic yield of idiopathic VF

Answer 14

20%

Question 15

Torsades de pointes

Answer 15

Specific type of ventricular tachycardia

Question 16

Proportion of channelopathy gene variants that will have a change in pathogenicity in ClinVar

Answer 16

1:10

Question 17

Variant calls are becoming ______ certain

Answer 17

less

Question 18

Brugada Syndrome Gene

Answer 18

SCN5A

Question 19

How is CHD defined

Answer 19

structural/congenital heart disease

Question 20

Types of congenital heart disease

Answer 20

Structural heart disease with extracardiac manifestations
Cardiac-only disease

Question 21

What type of testing is recommended for syndromic CHD

Answer 21

Chromosomal

Question 22

What type of testing is recommended for non-syndromic structural CHD

Answer 22

Chromosomal and/or sequencing

Question 23

What type of testing is recommended for cardiomyopathies

Answer 23

Sequencing

Question 24

Cardiomyopathy is a CHD of the what

Answer 24

Myocardium (heart muscle)

Question 25

Channelopathies are CHDs with

Answer 25

EGC abnormalities and/or arrhythmias

Question 26

What type of testing is recommended for channelopathies

Answer 26

Sequencing

Question 27

Family history questions for CHD

Answer 27

1st degree relatives CDH, need for heart surgery, need for pacemaker or ICD Syncope (specifically with exertion), seizures, sudden death, sudden infant death, stillbirths or miscarriages Unexplained drownings, unexplained car accidents

Question 28

Cardiac work-up for physical exam

Answer 28

4 ex-bp Pre-/post-ductal sats 12 or 15-lead ECG CXR

Question 29

Things to think about for genetic testing

Answer 29

Extracardiac manifestations or cardiac only Structural, myocardial, arrhythmic

Question 30

Cardiac features associated with Turner Syndrome

Answer 30

Left-sided obstructive lesions - aortic stenosis/bicuspid aortic valve, coarctation, HLHS Partially anomalous pulmonary veins

Question 31

What percent of neonates with HLHS (hypoplastic left heart syndrome) have a syndrome

Answer 31

10%

Question 32

What percent of neonates with HLHS have a CMA with a VUS

Answer 32

25%

Question 33

Percent of live births with CHD

Answer 33

1%

Question 34

Risk of recurrence for CHD with sibling or parent with CHD

Answer 34

2-5%

Question 35

Risk of recurrence for CHD with left-sided obstructive lesions

Answer 35

8-19%

Question 36

Risk of recurrence for CHD with 2nd degree relative

Answer 36

1-2%

Question 37

Risk of recurrence for CHD with 3rd degree relative

Answer 37

1%

Question 38

What is the most common CHD

Answer 38

Bicuspid aortic valve

Question 39

Bicuspid aortic valve has risk for

Answer 39

progressive aortic valve disease Aortic root aneurysm

Question 40

What gene is associated with aortic valve disease

Answer 40

NOTCH1

Question 41

What percent of neonates with CHD have likely pathogenic mutation

Answer 41

2%

Question 42

11% of Shone complex patients have a mutation in what gene

Answer 42

MYH6

Question 43

2% of tetralogy of fallot have a mutation in what gene

Answer 43

FLT4

Question 44

What percent of CHD is de novo

Answer 44

8%

Question 45

Neonatal dilated cardiomyopathy

Answer 45

rare my be a syndrome, genetic, and/or idiopathic

Question 46

Syndromic cardiomyopathies

Answer 46

HCM w/ WPW Pompe Fabry Friedreich Ataxia Kearns-Sayre Emery-Dreifuss Duchenne/Becker

Question 47

What process if interrupted for Pompe and HCM w/ WPW

Answer 47

Glycogen storage

Question 48

What process if interrupted for Fabry

Answer 48

Lysosomal storage

Question 49

What process if interrupted for Friedreich Ataxia and Kearns-Sayre

Answer 49

Mitochondria

Question 50

What process if interrupted for Emery-Dreifuss and Duchenne/Becker

Answer 50

Neuromuscular

Question 51

Primary non-syndromic cardiomyopathy gene

Answer 51

TTN (Titin)

Question 52

Primary cardiomyopathies presenting in neonates is _____

Answer 52

rare

Question 53

Congenital Long QT Syndrome is what and caused by what genes

Answer 53

delayed repolarization KCNQ1, KCNH2

Question 54

Torsades de pointes gives a predisposition to what

Answer 54

lethal ventricular arrhythmias

Question 55

A child with Duchenne’s muscular dystrophy presents to clinic for regular follow-up care and education. Which of the following cardiovascular conditions should be discussed with the family during the appointment?

Answer 55

Cardiomyopathies

Question 56

Lifestyle changes are often recommended for patients with channelopathies such as Long QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. Which of the following is true about such recommendations?

Answer 56

Elimination of exercise can have negative psychological impacts