Genetic Determinants of CV Disorders Flashcards
3 types of cardiomyopathy
hypertrophic, dilated, restrictive
The end-stage of all types of cardiomyopathy is a ____ phenotype with ____
dilated w/CHF
*most forms associated w/conduction defects, dysrhythmia, or both
Most common cause of sudden death in young athletes.
familial hypertrophic cardiomyopathy
Histologic hallmark of FHC
interstitial fibrosis w/myofibril disarray (can be asymmetric or concentric hypertrophy)
Histologic hallmark of arrhythmogenic right ventricular dysplasia
deposition of fat in RV myocardium
*genes involved in structure and function of desmosomes
What feature defines long qt syndromes?
primary defects in repolarization w/predisposition to polymorphic ventricular tachycardia aka torsades de pointes due to dominant channelopathies
Which LQTS involves hearing abnormalities
Jervell and Lange Nielsen
Which is the common form of the LQTS
romano-ward
What are the features of Brugada LQTS
right BBB, ST segment elevation in V1-V3, sudden death
CV features of Marfan syndrome
aortic root dilation, aortic dissection, aortic regurgitation, mitral valve prolapse
Which txs have improved life expectancy among those with marfan’s?
earlier dx, regular followup, beta blockers, prophylactic aortic surgery, counseling aobut pregnancy, exercise modulation
etiology of marfan
fibrillin1 and 2 mutation –> component of microfibrils in skin, aortic media, perichondrium –> normally, the large latent complex is bound up by fibrillin and keeps TGFbeta inactive; w/ bad fibrillin, TGFbeta regulation breaks down and this leads to a lot of the vascular effects of marfans + poor valve development
What is the hypothesized effect of losartan (ARB) in marfan
tx from early age prevents and corrects aortic phenotype by modulation of tgfbeta expression
