Genetic Cardiology Flashcards
Marfan’s Gene
Fibrillin 1 - gene + 90%
Autosomal dominant
joint laxity, pectus evatum, aortic dilation
MVP, ocular lens displacment
BAV/Aortopathy
No gene identified
Loey Dietz
TGF Beta 1
Turners
Absense or abn of X chromosome short stature wide/webbed neck inferitility valvular AS - bicuspid Bicuspid aortic valve with systolic murmur aortic coarctation
Mendelian CVD (monogenic)
Marfans, LQTS, HCM, dilated CM
Familial cardiomyopathy
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
ARVC
Autosomal dominant disease of desmosome
Plakoglobin
Dystrophin
Muscular dystophy
Dilated CM
Tafazzin
Dilated CM
LV noncompaction
Myosin heavy chain
HCM
Dilated CM
Fabry’s disease
alpha galactosidase deficiency
HFpEF, LVH, renal dysfxn
X-linked transmission
Loeffer’s endocarditis
endocardial thickenign
mural thrombi
peripheral EOS
Sarcoid
HF
ventricular arrhythmias
Familial amyloid
transthyretin -
Glycogen storage dz
HF at young age
rarely survive to adult hood