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MedGen (Personal) > Cardio > Flashcards

Cardio Flashcards

1
Q

Types of heritable cardiovascular diseases

A

Cardiomyopathies
Aortopathies
Structural
Channelopathies
Familial dyslipidemia

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2
Q

Types of cardiomyopathies

A

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

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3
Q

Genetic yield for HCM

A

70%

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4
Q

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

A

10%

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5
Q

Genetic yield for RCM

A

60%

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6
Q

Genetic yield for ARVC (Arrhythmic right ventricular cardiomyopathy)

A

80%

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7
Q

Genetic yield for DCM

A

30%

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8
Q

Cardiac channelopathies can’t be seen by

A

cardiac imaging or autopsy

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9
Q

Types of channelopathies

A

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

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10
Q

Genetic yield of Long QT Syndrome

A

75%

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11
Q

Genetic yield of Brugada syndrome

A

30%

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12
Q

Genetic yield of short QT syndrome

A

20%

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13
Q

Genetic yield of CPVT

A

65%

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14
Q

Genetic yield of idiopathic VF

A

20%

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15
Q

Torsades de pointes

A

Specific type of ventricular tachycardia

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16
Q

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

A

1:10

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17
Q

Variant calls are becoming ______ certain

A

less

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18
Q

Brugada Syndrome Gene

A

SCN5A

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19
Q

How is CHD defined

A

structural/congenital heart disease

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20
Q

Types of congenital heart disease

A

Structural heart disease with extracardiac manifestations
Cardiac-only disease

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21
Q

What type of testing is recommended for syndromic CHD

A

Chromosomal

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22
Q

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

A

Chromosomal and/or sequencing

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23
Q

What type of testing is recommended for cardiomyopathies

A

Sequencing

24
Q

Cardiomyopathy is a CHD of the what

A

Myocardium (heart muscle)

25
Q

Channelopathies are CHDs with

A

EGC abnormalities and/or arrhythmias

26
Q

What type of testing is recommended for channelopathies

A

Sequencing

27
Q

Family history questions for CHD

A

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

28
Q

Cardiac work-up for physical exam

A

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

29
Q

Things to think about for genetic testing

A

Extracardiac manifestations or cardiac only
Structural, myocardial, arrhythmic

30
Q

Cardiac features associated with Turner Syndrome

A

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

31
Q

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

A

10%

32
Q

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

A

25%

33
Q

Percent of live births with CHD

A

1%

34
Q

Risk of recurrence for CHD with sibling or parent with CHD

A

2-5%

35
Q

Risk of recurrence for CHD with left-sided obstructive lesions

A

8-19%

36
Q

Risk of recurrence for CHD with 2nd degree relative

A

1-2%

37
Q

Risk of recurrence for CHD with 3rd degree relative

A

1%

38
Q

What is the most common CHD

A

Bicuspid aortic valve

39
Q

Bicuspid aortic valve has risk for

A

progressive aortic valve disease
Aortic root aneurysm

40
Q

What gene is associated with aortic valve disease

A

NOTCH1

41
Q

What percent of neonates with CHD have likely pathogenic mutation

A

2%

42
Q

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

A

MYH6

43
Q

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

A

FLT4

44
Q

What percent of CHD is de novo

A

8%

45
Q

Neonatal dilated cardiomyopathy

A

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

46
Q

Syndromic cardiomyopathies

A

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

47
Q

What process if interrupted for Pompe and HCM w/ WPW

A

Glycogen storage

48
Q

What process if interrupted for Fabry

A

Lysosomal storage

49
Q

What process if interrupted for Friedreich Ataxia and Kearns-Sayre

A

Mitochondria

50
Q

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

A

Neuromuscular

51
Q

Primary non-syndromic cardiomyopathy gene

A

TTN (Titin)

52
Q

Primary cardiomyopathies presenting in neonates is _____

A

rare

53
Q

Congenital Long QT Syndrome is what and caused by what genes

A

delayed repolarization
KCNQ1, KCNH2

54
Q

Torsades de pointes gives a predisposition to what

A

lethal ventricular arrhythmias

55
Q

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?

A

Cardiomyopathies

56
Q

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?

A

Elimination of exercise can have negative psychological impacts

MedGen (Personal) (12 decks)

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