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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
Long QT 1 Gene
KCNQ1
26
Long QT 2 Gene
KCNH2
27
Long QT 3 Gene
SCN5A
28
LQT1 Trigger
Exercise
29
LQT2 Trigger
Emotion
30
LQT3 Trigger
Rest/sleep
31
LQT is characterized by
Prolonged T-wave (>450 ms in males, >460 ms in females)
32
Clinical features of Jervell-Lange-Nielson Syndrome
LQTS and SNHL
33
Clinical features of Anderson-Tawil Syndrome
Skeletal abnormalities, periodic paralysis
34
Clinical features of Timothy Syndrome
Syndactylyl, dysmorphic features, ID, autism, Arrhythmia
35
Short QT syndrome is characterized by
short QT interval (<320 ms) and tall/peaked T waves
36
What gender is more likely to have symptoms in Brugada syndrome
Males
37
Brugada syndrome is also known as
SUNDS (SIDS)
38
CPVT is characterized by
episodic syncope occurring during exercise or acute emotion
39
Gene for Pulmonary Arterial Hypertension
BMPR2
40
What is the penetrance of PAH with BMPR2 mutation
20%
41
Gene for TTR-associated amyloidosis
TTR
42
TTR-associated amyloidosis
slowly progressive peripheral sensiomotor neuropathy and autonomic neuropathy, cardiomyopathy, vitreous opacities, CNS amyloidosis
43
Heart defect in fetus exposed to retinoid acid
Aortic arch anomalies
44
Heart defect in fetus exposed to lithium
Ebstein's Anomaly
45
Most common heart defect in T21
Atrioventricular canal defect
46
Most common heart defect in Turner syndrome
coarctation of the aorta
47
Most common heart defect in 22q11
Conotruncal defects
48
Most common heart defect in Williams
Supravalvular aortic stenosis
49
Most common heart defect in syndromic CHD
Aortic stenosis and pulmonary hypertension
50
Most common heart defect in Noonan
Pulmonic stenosis
51
Most common heart defect in Holt Oram
ASD, VSD, cardiac conduction defect
52
Most common heart defect in CHARGE syndrome
Truncus arteriosus, VSD, ASD
53
RR if parent has one child with a CHD
2-4%
54
RR for child if father had CHD
2%
55
RR for child if mother had CHD
6%
56
4 metabolic diseases with HCM
Danon disease, Wolf-Parkinson-White Syndrome, Fabry disease, TTR-associated amyloidosis
57
2 clinical findings in Wolf Parkinson White Syndrome
HCM with conduction abnormalities
58
2 clinical findings in Danon disease
HCM with pre excitation, skeletal myopathy, retinal dystrophy
59
4 clinical findings in Fabry disease
Angiokeratomas, hypohidrosis, pain with heat, HCM
60
Inheritance WPW
AD
61
Inheritance Danon Disease
XL
62
Inheritance Fabry Disease
XL
63
Inheritance Pompe Disease
AR
64
2 clinical features of Pompe Disease
HCM, hypotonia
65
2 metabolic conditions that can have DCM
Hemochromatosis, mt disease
66
What type of cardiomyopathy is often seen in muscular dystrophies
DCM
67
3 clinical features of Barth Syndrome
HCM/DCM, neutropenia, abnormal urine organic acids
68
Inheritance of Barth syndrome
XLR
69
3 clinical features of Carvajal Syndrome
NCCM, woolly hair, palmoplantar keratoderma
70
Inheritance of Carvajal Syndrome
AR
71
How do you bring out Brugada pattern?
Procainamide challenge (or fever)
72
4 syndromes with TAAD
Marfan, Loeys-Dietz, Congenital contractural arachnodactyly, EDS

Amy's Updated Board Exam Deck (30 decks)

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