Genetics of Cardiomyopathies

  1. What are the two most common genetic causes of familial hypertrophic cardiomyopathy?
    MYH7 and MYBPC3 mutations
  2. What are the symptoms of hypertrophic cardiomyopathy?
    • Chest pain
    • Palpitations
    • Syncope
    • Dyspnea
  3. What is the inheritance pattern for hypertrophic cardiomyopathy?
    Autosomal dominant
  4. What protein is coded by MYH7 gene?
    Cardiac myosin heavy chain beta
  5. What protein is coded by MYBPC3 gene?
    Myosin binding protein C
  6. What is the most common genetic cause for dilated cardiomyopathy?
    LMNA
  7. What protein is coded by LMNA?
    Lamin A and lamin C
  8. What is the most common cause of congestive heart failure?
    Dilated cardiomyopathy
  9. What is the inheritance pattern of dilated cardiomyopathy?
    Variable, but mostly autosomal dominant
  10. What is the most common Long QT subtype?
    Romano-Ward syndrome
  11. The Romano-Ward syndrome affects _________________ properties of the heart
    Electrical
  12. What are the most common mutations causing Romano-Ward syndrome?
    KCNQ1, KCNH2, SCN5A
  13. What is the inheritance pattern of Romano-Ward syndrome?
    Autosomal dominant
  14. What changes do the mutations in Romano-Ward syndrome cause?
    Changes calcium or potassium channels
  15. What are the most common mutations causing Jervell and Lange-Nielsen syndrome?
    KCNQ1
  16. What is the inheritance pattern of Jervell and Lange-Nielsen syndrome?
    Autosomal recessive
  17. What changes to the mutations in Jervell and Lange-Nielsen syndrome cause?
    Changes potassium channels
  18. What two conditions cause long QT syndromes?
    • Romano-Ward syndrome
    • Jervell and Lange-Nielsen syndrome
Author
stepha998
ID
344745
Card Set
Genetics of Cardiomyopathies
Description
ATSU
Updated