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
2
Q
BAV/Aortopathy
A
No gene identified
3
Q
Loey Dietz
A
TGF Beta 1
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
5
Q
Mendelian CVD (monogenic)
A
Marfans, LQTS, HCM, dilated CM
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
7
Q
ARVC
A
Autosomal dominant disease of desmosome
Plakoglobin
8
Q
Dystrophin
A
Muscular dystophy
Dilated CM
9
Q
Tafazzin
A
Dilated CM
LV noncompaction
10
Q
Myosin heavy chain
A
HCM
Dilated CM
11
Q
Fabry’s disease
A
alpha galactosidase deficiency
HFpEF, LVH, renal dysfxn
X-linked transmission
12
Q
Loeffer’s endocarditis
A
endocardial thickenign
mural thrombi
peripheral EOS
13
Q
Sarcoid
A
HF
ventricular arrhythmias
14
Q
Familial amyloid
A
transthyretin -
15
Q
Glycogen storage dz
A
HF at young age
rarely survive to adult hood
