gen 3

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Author:
sweetlu
ID:
118677
Filename:
gen 3
Updated:
2011-11-23 14:27:44
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gen 3
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  1. Hypertrophic cardiomyopathy
    • - cardiac hypertrophy in the absense of increased external load
    • - impaired diastolic function (systolic function ok)
    • - septum is prominent site of involvement
    • -disease of sarcomere(inc Ca and ATP sensitivity)
    • 1: B-My HC
    • 2: cTnT (anchor troponin to tropomyosin
    • 3: cMyBP-C (anchor myosin to titin)
  2. Dilated cardiomyopathy
    • -LV chamber enlargement
    • -gradual heart failure
    • - deadly A and V arrhythmias
    • - mutation of cytoskeleton genes
    • weakened sarcomere contraction
  3. Glycogen cardiomyopathy
    • - genes of metabolism associated with lysosomes
    • - glycogen deposition
    • - Floppy baby (hypotonia)
    • - myociyte and myofiber disarray
    • - fibrosis
  4. Pompe disease
    • -recessive
    • - lysosomal acid a 1,4-glucosidase (GAA) defeciency
    • (glycogen cardiomyopathy)
  5. Danon disease
    • -X-linked
    • -LAMP2 (lysosomal associated membrane protein) deficiency
    • -(glycogen cardiomyopathy)
  6. Fabry disease
    • - x linked glycogen cardio myopathy
    • - GLA (galactosidase A) deficiency
  7. PRKAG2
    • -glycogen storage disease
    • - alpha 2 s/u of AMPK
  8. Restrictive cardiomyopathy
    • - normal or decreased vol of both ventricles
    • - bi-atrial enlargement
    • - cardiac troponin I mutation
  9. Arrhythmogenic cardiomyopathy
    • - RV mostly affected
    • - progressive replacement of myocytes with fatty or fibrofatty tissue
    • - begins in epicardium and extends to subendocardium
    • -desmosomal mutation
  10. long QT syndrome
    • - repolarization disorder
    • - K (dec out), Na ( inc in) or Ca channel defects
    • - ventricular tacchyarrythmias
  11. short QT syndrome
    • - hastened repolarization
    • - high rate of sudden death (very short QT)
    • - gain of function of K channel
  12. Brugada
    • - ST elevation in the right precordial leads
    • - sudden cardiac death (sudden unexpected death syndromw)
    • - Endemic in east and SE Asia
    • - slowed Na influx
  13. SA node dysfunction
    • - loss of Na channel function
    • - SCN5A and SCN5B
    • - sick sinus syndrome
  14. catecholaminergic polymorphic ventricular tachycardia
    • - triggered by Epi (adrenergic stimuli)
    • - excessive Ca in cell causes tachycardia at rest
    • - RyR channel mutation
    • - calsequestrin mutation

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