Congenital Heart Defects

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. 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 Coarctation of Aorta (COA)

17. 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 COA

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. 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 TGA:

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

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. 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 TAPVR findings

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

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