1. Congenital Heart Defects
Craig T. Carter, D.O.
Assistant Professor – EM/Peds
University of Kentucky

2. A nurse approaches you -
“Doctor, Doctor” - a kid just checked in with a history of Hypoplastic Left Heart syndrome – What is that again??”
You reply …..

3. “ I need to go to the bathroom, as soon as I get back, I will tell you all about it....”

4. So you sit and think…..

5. And think some more….

6. Back to Basics-Fetal Circulation
Four shunts of blood flow : placenta, ductus venosus, foramen ovale and ductus arteriosus

7. Back to Basics-Fetal Circulation

8. Changes after birth:
Shift of blood flow for gas exchange, from the placenta to the lungs.
Closure of ductus venosus :no placenta
increase in pulmonary blood flow
functional closure of foramen ovale (increased LA pressure)
Closure of ductus arteriosus (^O2)

9. Newborn Cardiac Exam Vital signs: RR, HR, BP respiratory effort color
palpate point of maximal impulse (PMI) of heart
palpate pulses of all extremities
auscultate

10. Case 1: 2 day old infant
2 day old baby girl is being examined for discharge physical.
Vitals: HR:120 RR:40 BP: r arm 75/40
Gen : low hairline, webbed neck, edemetous dorsum of feet

11. Case 1: cardiac exam Normal PMI, no thrill No hepatosplenomegally
unable to palpate pulses in lower extremities
BP’s all four extremities: both legs systolic BP lower 40/30

12. Case 1: Auscultation S2 splits normally ejection click
systolic ejection murmur III/VI at the URSB and LLSB
systolic murmur radiates to the back
early diastolic decrescendo murmur at 3LICS

13. Case 1:
What do you think is the congenital defect?

14. Case 1:
What further evaluation do you need?

15. Coarctation of Aorta (COA)

16. Coarctation of Aorta (COA)
Incidence: 8% of all congenital heart defects
Turner’s syndrome: 30% have COA
Preductal: 40% associated with other cardiac defects,symptomatic early in life
Postductal: less likely to have symptoms early

17. COA EKG: LVH (but may be normal in 20%)
X-rays: heart size may be normal or slightly enlarged
Rib notching in older children
Echo: can see narrowing
Bicuspid aortic valve
Doppler:disturbed flow

18. COA complications
COA can cause CHF, HTN (intracranial bleeding,hypertensive encephalopathy)
Bicuspid aortic valve: stenosis or regurg
LV failure
infective endocarditis

19. Preductal COA in Newborn
80% of infants with preductal COA develop CHF by 3 months of age!
Symptoms of CHF: poor feeding, poor weight gain, dyspnea in first 2-6 weeks of life.

20. Case 2: Two week old with murmur
Two week old infant, who you saw as a newborn with normal exam, now is noted to have a heart murmur.
PMI LSB, not hyperdynamic
pulses equal all extremities
No HSM

21. Case 2: Cardiac exam
Grade III/VI holosystolic murmur at LLSB

22. Case 2: What would you like to do next?
EKG: LVH,LAH
Blood pressures all four extremities
Xray: look for cardiomegally and increase in pulmonary vascularity
oxygenation
Echo: VSD

23. Ventricular Septal Defect (VSD)
The most common form of congenital heart disease: 20-25%
may be located in different anatomical locations
may be associated with many other cardiac defects ( in many cases essential for survival)
may be small or large (can cause CHF)

24. Case 3: One day old infant
One day old infant with tachypnea and cyanosis
Gen: cyanotic
RR:65, HR 140, BP 40/20
pulse ox on RA: less than 80

25. Case 3: Respiratory and Cardiac
Lungs clear, no retractions, RR rapid
Cardiac: PMI at LSB
pulses palpable all extremities
S2 single and loud. No heart murmur.

26. What would you like to do?
ABG: before oxygenation
Give 100% O2 and then repeat ABG
EKG, 4 extremity BP
CXR

27. Results of ABG Before O2: PH: 7.15,PaCO2 30 and Pa O2 40
After 100% O2: PH: 7.12, PaCO2 25 and PaO2 50

28. Transposition of Great Arteries

29. Transposition of Great Arteries
5% of all congenital heart defects
Aorta arises anteriorly from RV, PA arises posteriorly from LV
defects (VSD,ASD,PDA) that permit mixing of the two circulations are necessary for survival

30. TGA: ABG:hypoxemia is unresponsive to O2 EKG: RVH
X-rays: egg-on-a-string silhouette
cardiomegally with increased pulmonary vascularity
Echo: PA from LV
associated anomalies:VSD,ASD,PDA

31. Immediate Treatment Prostaglandin E1 to reopen PDA Oxygen
cardiology/surgery referral

32. DDX of Cyanotic Heart Dz
Transposition of the Great Arteries
Tetralogy of Fallot
Total Anomalous Pulmonary Venous Return
Tricuspid Atresia
Pulmonary Atresia
Truncus Arteriosus

33. Other congenital cyanotic defects
Ebstein’s anomaly
single ventricle
Double-outlet right ventricle (depends on associated defects…if cyanotic or not)

34. Tetralogy of Fallot

35. Tetralogy of Fallot (TOF)
Large VSD
RV outflow obstruction
right ventricular hypertrophy
overriding of the aorta

36. Tetralogy of Fallot 10% of all congenital heart defects
The MOST COMMON CYANOTIC cardiac defect beyond infancy

37. TOF: physical exam Varying degrees of cyanosis and clubbing
systolic thrill LSB
S2 single with ejection click
loud III-V/VI SEM LSB
continuous murmur of PDA

38. TOF EKG: RAD, RVH Xray: “boot-shaped” heart (hypoplastic MPA)
Echo: image of four defects associated

39. Tetralogy of Fallot

40. TOF complications Hypoxic spells
growth retardation with severe cyanosis
brain abscess and CVA
infective endocarditis
polycythemia

41. Hypoxic Spell ( “TET Spell”
Paroxysm of hyperpnea (rapid and deep)
irritability and prolonged cry
increasing cyanosis
decreased intensity of heart murmur
(may lead to limpness, convulsion,CVA or death)

42. Treatment of “TET Spell”
Knee-chest (squat )position
morphine sulfate
treat acidosis
oxygenation

43. Total Anomalous Pulmonary Venous Return
One percent of all congenital heart defects
Defect: no direct communication between the pulmonary veins and the left atrium (they can drain: supracardiac,cardiac,infracardiac or mixed)

44. Total Anomalous Pulmonary Venous Return

45. TAPVR findings S2 widely split and fixed S3 or S4 gallop
SEM: III-IV/VI
middiastolic rumble at LLSB
Xrays: cardiomegally
“Snowman”
Echo can define anatomy
EKG:RAD

46. Tricuspid Atresia 1-2% of all congenital heart disease in infancy
tricuspid valve is absent and RV is hypoplastic
associated defects of VSD,ASD or PDA are necessary for survival

47. Tricuspid Atresia

48. Tricuspid Atresia: findings
Exam: cyanosis
S2 single, often syst murmur of VSD, and occ of PDA present
early CHF

49. Tricuspid Atresia EKG: superior QRS between O and -90 LVH
Pulmonary vascularity is decreased
Echo: defines minimal RV, and large LV

50. Pulmonary Atresia Less than 1% of congenital heart diseases
valve is atretic, RV cavity is hypoplastic
need other defects: ASD,PDA for survival

51. Pulmonary Atresia

52. Pulmonary Atresia: findings
PE: S2 is single
murmur of PDA
EKG: normal axis,LVH
Xray: decreased pulmonary vascularity
Echo:atretic pulmonary valve and hypoplastic RV

53. Pulmonary Atresia
Prostaglandin E1
cardiac surgery

54. Truncus Arteriosus Less than 1% of all congenital heart Dz
Only a single arterial trunk leaves the heart and gives rise to the pulmonary, systemic and coronary circulations
large VSD is always present

55. Truncus Arteriosus PE: cyanosis
wide pulse pressure and bounding pulses
harsh VSD murmur LSB
EKG:normal axis,LAH
Xrays: cardiomegally and increased pulm vascularity
50% R aortic arch
Echo:single great artery,VSD

56. Hypoplastic Left Heart

57. Hypoplastic Left Heart
Hypoplastic left heart syndrome refers to underdevelopment of the left side of the heart.
This syndrome may include:
Small aorta: This is the major blood vessel from the left ventricle to the body.

58. Hypoplastic Left Heart
May Include:
Aortic valve atresia (absence): This valve normally opens and closes to let blood flow from the left ventricle to the aorta. When atresia is present, there is no connection between the left ventricle and aorta, and no forward blood flow.
Mitral valve stenosis or atresia: This valve normally opens and closes to let blood flow between the left atrium and left ventricle. Stenosis causes little blood flow; atresia causes no blood flow. Either atresia or stenosis may be present.