Path 3: CHD

  1. Abnormalities of the heart or great vessels present from birth.
    Congenital Heart Disease
  2. Most CHDs arise from faulty embryogenesis during gestational weeks  ____ through _____
    3 through 8
  3. Incidence of CHDs
    1% of live births
  4. Mutations in transcription factors linked to ____ & ____
    • ASD (TBX5)
    • VSD (NKX2.5)
  5. Categories of CHD (3)
    • L -> R Shunt
    • R -> L Shunt
    • Obstruction
  6. Abnormal communication between chambers or blood vessels.
  7. Right --> Left Shunts (5)
    • Tetralogy of Fallot
    • Transposition of the Great Arteries
    • Persistent Truncus Arteriosus
    • Tricuspid Atresia
    • Total anomalous pulmonary venous connection
  8. R--> L Shunts characterized by ___
  9. R-> L Shunts:
    Bland or septic emboli arising in peripheral veins that enter the systemic circulation and may cause brain infarcts or abscesses.
    Paradoxical emboli
  10. Long-standing cyanosis (R-> L shunts) can cause (2 things)
    • Clubbing of the tips of fingers and toes
    • Polycythemia
  11. L -> R Shunts (4)
    • ASD
    • VSD
    • PDA
    • AV Septal defects
  12. L -> R shunts result in _____
    Right ventricular hypertrophy
  13. L-> R shunts:  The muscular pulmonary arteries first respond to the increased pressure by _________ and _______.
    Medial hypertrophy, vasoconstriction
  14. L -> R Shunt:
    Eventually the shunt reverses and poorly-oxygenated blood goes into the systemic circulation.  This is known as?
    Eisenmenger Syndrome or Late Cyanotic Congenital Heart Disease
  15. Major anomalies causing obstruction (3)
    • Coarctation of the aorta
    • Aortic valvular stenosis
    • Pulmonary Valvular stenosis
  16. Complete obstruction
  17. What is the most common ASD?
    Ostium Secundum
  18. Ostium Secondum ASD is due to a fenestrated or deficient _______
    fossa ovalis
  19. Which ASD is associated with fetal alcohol syndrome?
    Ostium Primum
  20. Where do Ostium Primum ASDs appear?
    Adjacent to the AV valves
  21. Where do Sinus Venosus ASDs appear?
    Near entrance of Superior Vena Cava
  22. Name the 3 ASDs.
    • Secundum
    • Primum
    • Sinus Venosus
  23. When do ASDs usually start showing symptoms?
    Usually asymptomatic until adulthood
  24. Are ASDs the same thing as a patent foramen ovale?
  25. Most common congenital cardiac anomaly.
  26. 90% of VSDs are located at the _______ of the interventricular septum.  The remaining are_____
    • membranous portion
    • infundibular (below pulmonic valve) or muscular
  27. Which type of VSD can be multiple?
    Muscular (swiss cheese septum)

    "The swiss have lots of muscles."
  28. What percentage of small muscular VSDs close spontaneously?
  29. What gives a "machinery-like" murmur?
    Patent Ductus Arteriosus
  30. Superior and inferior endocardial cushions fail to fuse adequately.  Incomplete close of AV septum and inadequate formation of tricuspid and mitral valves.
    Atrioventricular Septal Defect
  31. AVSD:  Superior and inferior _____fail to fuse adquately.
    Incomplete closure of ______ and inadequate closure of ________
    • endocardial cushions
    • tricuspid and mitral valves
  32. 4 Features of Tetralogy of Fallot
    • VSD
    • Obstruction to the right ventricular outflow tract (subpulmonary stenosis)
    • An aorta that overrides the VSD
    • Right ventricular hypertrophy
  33. Results from anterosuperior displacement of the infundibular septum.
    Tetralogy of Fallot
  34. Tetralogy of Fallot results from ________ displacement of the ________
    • anterosuperior
    • infundibular septum
  35. Boot-shaped heart due to right ventricular hypertrophy
    Tetralogy of Fallot
  36. What determines the direction of blood flow in Tetralogy of Fallot?
    Severity of right ventricular outflow obstruction
  37. Due to abnormal formation of hte truncal and aortopulmonary septa.
    Transposition of the Great Arteries
  38. TGA is due to abnormal formation of the ____________
    truncal and aortopulmonary septa
  39. Development failure of separation of the embryologic truncus arteriosus into the aorta and pulmonary artery.  Results in single great artery that receives blood from both ventricles.
    Truncus Arteriosus
  40. Truncus Arteriosus may result in ?
    Pulmonary hypertension (among other things)
  41. Occlusion of the tricuspid valve orifice
    Tricuspid Atresia
  42. Tricuspid Atresia is almost always associated with
    Hypoplastic right ventricle
  43. Hypoplastic right ventricle is almost always associated with
    Tricuspid Atresia
  44. No pulmonary veins directly join the left atrium.
    Total Anomalous Pulmonary Venous Connection (TAPVC)
  45. TAPVC usually drains into the ________ or ______
    Left innominate vein or coronary sinus
  46. What is always present in a TAPVC  that allows pulmonary venous blood to enter the left atrium?
    Patent Foramen Ovale or ASD
  47. Hypertrophy of right atrium and ventricle with dilationof these chambers and pulmonary trunk is characteristic of?
  48. In TAPVC, the LA = ______ and the LV=______
    • LA= hypoplastic
    • LV= normal
  49. What disease presents with a hypoplastic LA?
  50. Narrowing or constriction of the aorta.
    Coarctation of the Aorta
  51. Who is more affected by coarctation of the aorta, males or females?
  52. Turner Syndrome is associated with
    Coarctation of the Aorta
  53. Name 2 types of coarctation of the aorta.
    • Infantile:  Hypoplasia of aortic arch proximal to PDA
    • Adult:  Ridge-like infolding of the aorta, opposite to a closed ductus arteriosus distal to the arch vessels
  54. In Infantile Coarctation of the aorta, the hypoplasia of the aortic arch location is?
    After the 3 main branches, but before the PDA.  Leads to LE cyanosis in infants.
  55. Adult Coarctation of the Aorta presents as?
    Hypertensionof the UE and hypotension w/ weak pulses in the LE.  Collateral circulation develops across the intercostal arteries --> notching of ribs on X-ray
  56. Bicuspid Aortic Valve is associated with?
    Coarctation of the Aorta
  57. Right ventricular hypoplasia w/ an associated ASD/VSD is associated with?
    Pulmonary Atresia
  58. What is assocaited with fibroelastosis of the left ventricular endocardium (hypoplastic left heart syndrome)?
    Aortic Stenosis and Atresia
  59. Thickened ring or collar of dense endocardial fibrous tissue below the level of the cusps.
    Subaortic stenosis
  60. Supraventricular Stenosis (Aortic Stenosis) is caused by mutation in what gene?
    Elastin gene
  61. Inherited form of aortic dysplasia in which the ascending aortic wall is greatly thickened, causing luminal constriction.
    Supravalvular Stenosis (Aortic Stenosis)
Card Set
Path 3: CHD