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Amy's Updated Board Exam Deck > Week 4: Cardiovascular Genetics > Flashcards

Week 4: Cardiovascular Genetics Flashcards

1
Q

Sudden cardiac death definition

A

Death from an abrupt loss of heart function within 1 hour of the onset of cardiac symptoms (natural, rapid, unexpected)

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2
Q

What percent of sudden cardiac death has structural cardiac disease

A

95%

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3
Q

Inheritance of familial hypercholesteremia

A

AD

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4
Q

Gene for Familial Hypercholesteremia

A

LDLR

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5
Q

Clinical features of familial hypercholesteremia

A

Significant elevations in total serum cholesterol and LDL cholsterol- xanthomas, atheroma, elevated risk for CAD

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6
Q

Most common inheritance pattern for HCM

A

AD

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7
Q

Most common genes implicated in HCM

A

MYH7, MYBPC3

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8
Q

HCM characterized by

A

Thickening of the wall of the heart muscle causing LV hypertrophy; myocyte hypertrophy and disarray

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9
Q

Most common inheritance pattern of DCM

A

AD

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10
Q

Most common genes implicated in DCM

A

LMNA, TNNT2, MYH7

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11
Q

DCM characterized by

A

LV enlargement and systolic dysfunction

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12
Q

Pacemaker

A

An electronic device implanted to provide electrical impulses to regulate the heartbeat

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13
Q

ICD

A

An electrical device is implanted to monitor and correct for cardiac arrhythmia

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14
Q

Most common inheritance pattern ARVD

A

AD

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15
Q

Incidence of ARVD is higher in what gender?

A

Males

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16
Q

Naxos Disease Inheritnace

A

AR

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17
Q

Naxos Disease Clinical Features

A

Wooly hair, palms-plantar keratoderma, ARVD

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18
Q

ARVD characterized by

A

progressive fibrofatty replacement of the myocardium- dilation of the RV causes poor contractions of the heart

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19
Q

Clinical presentation of ARVD

A

Concealed phase– electrical disorder with symptomatic arrhythmias, biventricular pump failure resembling DCM

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20
Q

Non-Compaction Cardiomyopathy characterized by

A

LV non-compaction (due to an error in heart formation)

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21
Q

Inheritance of NCCM

A

AD

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22
Q

Inheritance of restrictive cardiomyopathy

A

AD

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23
Q

Restrictive cardiomyopathy characterized by

A

walls of ventricles become stiff (not thickened) and resist normal filling with blood

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24
Q

Which cardiomyopathy has highest risk of sudden cardiac death

A

Restrictive cardiomyopathy

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25
Q

Long QT 1 Gene

A

KCNQ1

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26
Q

Long QT 2 Gene

A

KCNH2

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27
Q

Long QT 3 Gene

A

SCN5A

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28
Q

LQT1 Trigger

A

Exercise

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29
Q

LQT2 Trigger

A

Emotion

30
Q

LQT3 Trigger

A

Rest/sleep

31
Q

LQT is characterized by

A

Prolonged T-wave (>450 ms in males, >460 ms in females)

32
Q

Clinical features of Jervell-Lange-Nielson Syndrome

A

LQTS and SNHL

33
Q

Clinical features of Anderson-Tawil Syndrome

A

Skeletal abnormalities, periodic paralysis

34
Q

Clinical features of Timothy Syndrome

A

Syndactylyl, dysmorphic features, ID, autism, Arrhythmia

35
Q

Short QT syndrome is characterized by

A

short QT interval (<320 ms) and tall/peaked T waves

36
Q

What gender is more likely to have symptoms in Brugada syndrome

A

Males

37
Q

Brugada syndrome is also known as

A

SUNDS (SIDS)

38
Q

CPVT is characterized by

A

episodic syncope occurring during exercise or acute emotion

39
Q

Gene for Pulmonary Arterial Hypertension

A

BMPR2

40
Q

What is the penetrance of PAH with BMPR2 mutation

A

20%

41
Q

Gene for TTR-associated amyloidosis

A

TTR

42
Q

TTR-associated amyloidosis

A

slowly progressive peripheral sensiomotor neuropathy and autonomic neuropathy, cardiomyopathy, vitreous opacities, CNS amyloidosis

43
Q

Heart defect in fetus exposed to retinoid acid

A

Aortic arch anomalies

44
Q

Heart defect in fetus exposed to lithium

A

Ebstein’s Anomaly

45
Q

Most common heart defect in T21

A

Atrioventricular canal defect

46
Q

Most common heart defect in Turner syndrome

A

coarctation of the aorta

47
Q

Most common heart defect in 22q11

A

Conotruncal defects

48
Q

Most common heart defect in Williams

A

Supravalvular aortic stenosis

49
Q

Most common heart defect in syndromic CHD

A

Aortic stenosis and pulmonary hypertension

50
Q

Most common heart defect in Noonan

A

Pulmonic stenosis

51
Q

Most common heart defect in Holt Oram

A

ASD, VSD, cardiac conduction defect

52
Q

Most common heart defect in CHARGE syndrome

A

Truncus arteriosus, VSD, ASD

53
Q

RR if parent has one child with a CHD

A

2-4%

54
Q

RR for child if father had CHD

A

2%

55
Q

RR for child if mother had CHD

A

6%

56
Q

4 metabolic diseases with HCM

A

Danon disease, Wolf-Parkinson-White Syndrome, Fabry disease, TTR-associated amyloidosis

57
Q

2 clinical findings in Wolf Parkinson White Syndrome

A

HCM with conduction abnormalities

58
Q

2 clinical findings in Danon disease

A

HCM with pre excitation, skeletal myopathy, retinal dystrophy

59
Q

4 clinical findings in Fabry disease

A

Angiokeratomas, hypohidrosis, pain with heat, HCM

60
Q

Inheritance WPW

A

AD

61
Q

Inheritance Danon Disease

A

XL

62
Q

Inheritance Fabry Disease

A

XL

63
Q

Inheritance Pompe Disease

A

AR

64
Q

2 clinical features of Pompe Disease

A

HCM, hypotonia

65
Q

2 metabolic conditions that can have DCM

A

Hemochromatosis, mt disease

66
Q

What type of cardiomyopathy is often seen in muscular dystrophies

A

DCM

67
Q

3 clinical features of Barth Syndrome

A

HCM/DCM, neutropenia, abnormal urine organic acids

68
Q

Inheritance of Barth syndrome

A

XLR

69
Q

3 clinical features of Carvajal Syndrome

A

NCCM, woolly hair, palmoplantar keratoderma

70
Q

Inheritance of Carvajal Syndrome

A

AR

71
Q

How do you bring out Brugada pattern?

A

Procainamide challenge (or fever)

72
Q

4 syndromes with TAAD

A

Marfan, Loeys-Dietz, Congenital contractural arachnodactyly, EDS

Amy's Updated Board Exam Deck (30 decks)

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