Genetic Cardiology Flashcards

1
Q

Marfan’s Gene

A

Fibrillin 1 - gene + 90%
Autosomal dominant
joint laxity, pectus evatum, aortic dilation
MVP, ocular lens displacment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

BAV/Aortopathy

A

No gene identified

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Loey Dietz

A

TGF Beta 1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Turners

A
Absense or abn of X chromosome
short stature
wide/webbed neck
inferitility 
valvular AS - bicuspid
Bicuspid aortic valve with systolic murmur
aortic coarctation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Mendelian CVD (monogenic)

A

Marfans, LQTS, HCM, dilated CM

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Familial cardiomyopathy

A
No genetic testing
Clinical screening with fhx depends on genotype of patient - if  neg do not need further screening
Clinical dx with 3 generations required
Auto dominant
Known mutations 30-50%
80-90% autosomal dominant
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

ARVC

A

Autosomal dominant disease of desmosome

Plakoglobin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Dystrophin

A

Muscular dystophy

Dilated CM

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Tafazzin

A

Dilated CM

LV noncompaction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Myosin heavy chain

A

HCM

Dilated CM

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Fabry’s disease

A

alpha galactosidase deficiency
HFpEF, LVH, renal dysfxn
X-linked transmission

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Loeffer’s endocarditis

A

endocardial thickenign
mural thrombi
peripheral EOS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Sarcoid

A

HF

ventricular arrhythmias

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Familial amyloid

A

transthyretin -

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Glycogen storage dz

A

HF at young age

rarely survive to adult hood

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Noonan

A

web neck, hypertelorism, low set ears, micrognathia
Dysplasitc pulmonic valve
Pulmonic stenosis

17
Q

Down’s syndrome Trisomy 21

A

complete or partial AV defect

cleft mitral or TV

18
Q

Shone complex

A

Left obstructive dx

subvavlular AS
valvular AS
parachute MV
suprvalvular MS
Ao coarctation