Cardio Genetics S1M3

  1. Hypertrophic cardiomyopathy (HCM)
    • Presence of cardiac hypertrophy w/out increased load
    • Normal systolic but impaired diastolic function
  2. Hypertrophic cardiomyopathy (HCM) can be considered a disease of
    The sarcomere
  3. Hypertrophic cardiomyopathy (HCM) is an example of what hetergeneity
    Locus heterogeneity, a number of genes can cause it
  4. Hypertrophic cardiomyopathy (HCM) is caused by what three protein mutations
    • Beta myosin heavy chain (B-MyHC) most prevelant
    • Cardiac troponin T (cTnT)
    • Cardiac myosin-binding protein C (cMYBP-C)
  5. What does cardiac troponin T (cTnT) do
    Anchors troponin to tropomyosin
  6. What does Cardiac myosin-binding protein C (cMyBP-C) do
    Anchors myosin to titin
  7. What does Beta-myosin heavy chain (B-MyHC) do
    It is part of the myosin motor unit
  8. Dilated cardiomyopathy
    • Left ventricular chamber enlargement and systolic dysfunction
    • Disease of the cardiac cytoskeleton
  9. Glycogen cardiomyopathy
    Defects in genes associated with lysosome causing glycogen deposits
  10. What sets PRKAG2 aside from other Glycogen cardiomyopathies
    It only affects heart specific proteins so it isn't seen affecting other systems where the others are
  11. What are the diseases found in glycogen cardiomyopathy
    • Pompe (recessive)
    • Danon (X linked)
    • Fabry (X linked)
    • PRKAG2
  12. Fabry victims display what physical symptoms
    • Bloches on skin
    • Enlarged but weakened left ventricle
  13. Alpha-1,4-glucosidase (GAA)
    Protein is deficient in Pompe disease
  14. What is the protein deficient in Danon disease
    Lysosome associated membrane protein (LAMP2)
  15. What is the protein deficient in Fabry disease
    Galactosidase A (GLA)
  16. What is the protein deficient in PRKAG2 disease
    AMP-activated protein kinase (AMPK)
  17. Restrictive cardiomyopathy (RCM)
    • Decreased volume in both ventricles and biatrial enlargement
    • Impaired ventricular filling
  18. Defects in Cardiac troponin I (TNNTI3) is often the cause of
    Restrictive cardiomyopathy (RCM)
  19. What is the most frequent gene effected in Arrhythmogenic right ventricular cardiomyopathy (ARVC)
  20. Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    • Progressive loss of myocytes with fatty tissue replacement
    • Desmosome disease (PKP2 most frequent)
  21. Channelopathy
    Abnormalities in ion channel function in the heart
  22. What causes a long QT syndrome (LQTS)
    Mostly K+ channel issues, Na+ and Ca+ can be malfunctioning as well
  23. What are the genes most commonly affected in a long QT syndrome
    KCNQ1 and KCNH2
  24. Short QT is often seen in what kind of death
    I sudden quick death
  25. Brugada syndrome
    • ST interval elevated, can be the cause of sudden cardiac death caused by Na+ channel mutation
    • Endemic in East and South Asia
  26. SCN5A, and SCN1B mutations cause
    Sodium channel malfunctions in Brugada syndrome
  27. Catecholaminergic polymorphic ventricular tachycardia (CPVT)
    • Ryanodine receptor disease and Calsequestrin
    • Triggered by excersise
Card Set
Cardio Genetics S1M3