Congenital Heart Disease

1. Congenital Heart Disease Keith Larson, P.A.-C. Cardiovascular Surgery Children’s Hospital of Michigan

2. Incidence of CHD • Approx 0.8% of all live births have a CHD • Estimated 800,000 children living with CHD • Estimated 1 million adults living with CHD, half of which are defined as moderate or highly complex lesions

3. Incidence of CHD • CHD is the single most common form of birth defect • CHD is 3 times more common than muscular dystrophy, 5 times more common than childhood cancer and 30 more common than cystic fibrosis

4. Life Expectancy • In the 1940’s only 20% of babies born with a CHD were expected to survive to adulthood • Today, 90% of babies born with a CHD are expected to survive into adulthood • Due to successful circulation

5. Fetal Circulation • In utero circulation bypasses lungs by way of Foramen Ovale and Ductus Arteiosus

6. Fetal Circulation • Fetal Circulation in utero diverts blood from nonfunctioning, high resistance lungs • Oxygen, nutrients and waste removal occur via low resistance placenta • Abnormal persistence of fetal circulation accounts for 2 of the most common CHD’s

7. Transition to Adult Circulation • With birth, the placenta (low resistance) is eliminated and the lungs expand • Systemic Vascular resistance rises • Left sided pressures go up, and that closes the foramen ovale • Pulmonary vascular resistance falls

8. Transition to Adult Circulation • Foramen Ovale functionally closes • Ductus Arteriosus closes by vasoconstriction usually within the first 12 hours of age • Decrease in prostoglandin E • And become ligamentum arteriosum

9. A Normal Heart

10. Classification of CHDs • Obstructive Lesions • The heart responds to obstruction or pressure overload with hypertrophy (seen on echo – not CXR)) • Shunting Lesions • Left to right, acyanotic • Oxygenated going to non-oxygenated area • Right to left, cyanotic • Non oxygenated blood going to oxygenated area • Creates blue baby • The heart responds to volume overload with dilatation (seen on CXR)

11. Cyanosis

12. Cyanosis with Digital Clubbing

13. Digital Clubbing

14. Patent Ductus Arteriosus • Accounts for 10% of all CHD • Prostaglandin E and low O2 saturation in utero keep PDA open

15. Patent Ductus Arteriosus • Abnormal persistent patency of the ductus arteriosus resulting in L to R shunt between the aortic arch and the distal pulmonary trunk • The ductus normally closes beginning a few hours after birth • After birth, formation of the ligamentum arteriosum • PDA is more common in premature infants

16. Patent Ductus Arteriosus • Usually symptomatic by 2-6 months of age as pulmonary vascular resistance falls • May present as left sided CHF – cough, dyspnea, tachypnea and tachycardia, failure to thrive or feeding difficulty • Continuous “Machinery“ murmur at left upper sternal border radiating to the back • Flows more in systole, but also in diastole

17. Patent Ductus Arteriosus • CXR -increased pulmonary vasculature and enlarged LV • ECG – LA enlargement and LVH • Echocardiogram will demonstratePDA and direction of flow • GOLD STANDARD WITH ANY CONGENITAL CARDIOVASCULAR DISEASE • Echos in babies and children are higher resolution than adults

18. Patient Ductus Arteriosus • Spontaneous closure occurs but unlikely after 3 months • Treatment – indomethacin (or IV Ibuprophen) inhibits PGE and promotes vasoconstrition in premature infants • Surgical ligation or percutanious embolization if medical therapy fails • Cardiac Cath – Lower body arteries are small. Femoral artery path to ductus has risk of severe vascular complications. • That’s why you go for a surgical ligation instead

19. Atrial Septal Defect • 5-10% of all CHD • Primum ASD 10% • Secundum ASD 90% • Most common • Shunting from L to R

20. Atrial Septal Defect • Life expectancy is not normal, but survival is the rule • 75% mortality by age 50 if untreated • Increased risk of paradoxical embolic events – CVA, MI or other ischemic injury • RV failure

21. Atrial Septal Defect • Dyspnea and fatigue • Grade II-III/VI Systolic ejection murmur at the 2nd left ICS • Wide fixed splitting of the S2

22. Atrial Septal Defect • CXR – increased prominence of PA and dilated pulmonary trunk, RV, RA • ECG - RBBB • Echo

23. Atrial Septal Defect • Percutanious closure • Surgical closure

24. Ventricular Septal Defect • Isolated VSD:15-20% of CHD; Most common CHD • VSD’s present in 30-40% of entire CHD population

25. Ventricular Septal Defect Often present in patients with Down or Fetal Alcohol syndromes • Often referred to as a “hole in the heart” by the general public • May present clinically with failure to thrive (delayed growth), repeated lower respiratory infections and CHF symptoms • Wet lungs

26. Ventricular Septal Defect • CHF signs include tachypnea (sleeping rate > 40 rpm), dyspnea often worsening during feeding resulting in poor weight gain • High pitched holosystolic murmur, 3rd and 4th left ICS often with a palpable thrill (buzzing in the chest) • Mom feels” buzzing “thrill in chest • Small hole has bigger thrill • Large hole has smaller thrill

27. Ventricular Septal Defect • Classification • Restricted: VSD is smaller than the Aortic opening and shunting volume is restrictive • Unrestricted: VSD is larger than the Aortic opening resulting in greater left to right shunting • Overall, 30-40% will close in first 6 months of life and usually within 2 years, if at all.

28. Ventricular Septal Defect • Larger VSD’s have greater pulmonary volume overload lead to pulmonary congestion and LV dilation • Untreated may lead to increased PVR • Untreated, up to 10% may progress to Eisenmenger’s complex where PVR exceeds SVR and the shunt flow reverses to R to L and cyanosis results

29. Ventricular Septal Defect • Restricted: normal ECG and CXR • Unrestricted: ECG may show biventricular hypertrophy. CXR - cardiomegaly and pulm congestion • Echo will demonstrate defect and shunt flow as well as chamber enlargement and hypertrophy

30. Coarctation of the Aorta • 8-10% of all CHD’s • Abnormal stenosis of the aortic arch • Associated with Bicuspid Aortic valve 50-85% • Up to 30% develop CHF by 3 months of age • Untreated, 25% mortality by age 20, 75% by age 50 years • Present in 30% of Turner’s syndrome pts

31. Coarctation of the Aorta • Clinical presentation • Leg fatigue • HTN • Differential HTN between R/L arm or UE/LE • CHF • Rupture / dissection of aorta • Infective endocarditis • Short stature & webbing of the neck (Turner’s Syndrome) • Can present as heart failure or shock in the newborn if flow is ductal dependent

32. Coarctation of the Aorta • Have to have Systolic pressure difference > 20mm hg • Decreased lower extremity pulses • Brachial-Femoral impulse lag • II-IV/VI systolic murmur 2nd R ICS radiating to back • Increased risk of HTN and aneurysms even after surgical correction

33. Coarctation of the Aorta • CXR – rib notching 2° engorgement of intercostal arteries • Echo will demonstrate lesion and the gradient

34. Coarctation of the Aorta • Early in infancy, PGE to maintain PDA and increase blood flow to lower extremities and decrease load on LV • Dopamine, Dobutamine and O2 to alleviate CHF Sx’s • Surgical correction of lesion • Balloon aortoplasty in select cases (recurrent coarc after surgery)

35. Tetralogy of Fallot • 10% of CHD • Most common cyanotic CHD • 50% mortality by age 3 if untreated • 90% mortality by age 20 if untreated • The classic “Blue Baby” • Named for Etienne-Louis Arthur Fallot in 1888, however it was first described by Nicholas Steno in 1673.

36. Tetralogy of Fallot • VSD, • RVOT obstruction, • Overriding Aortic Root and • RVH

37. Tetralogy of Fallot • Patients who present in infancy are usually cyanotic • Hypercyanotic or Tet Spells: • Occur at 2-6 months of age • Paroxysmal hyperpnea, hypoxia, syncopal spells • Precipitated by feeding, crying, or bowel movement

38. Tetralogy of Fallot • Patients who present later in childhood may be acyanotic if RVOT obstruction is mild • Squatting during activity– increases Systemic Vascular Resistance, pulmonary blood flow and LV output, reduces pts DOE • Like runners trying to catch their breath • Forces blood back to the lungs and inproves ixygenation • Patient usually underdeveloped

39. Tetralogy of Fallot • CXR may show a “boot shaped heart” and reduced pulmonary markings • Caused by Right Ventricular Hypertrophy • Physical exam may show cyanosis, clubbing of digits and RV heave • Harsh early to midsystolic murmur at left 2nd or 3rd ICS • Echo demonstrates the anatomy and degree of obstruction and shunting

40. Tetralogy of Fallot • CXR showing “Boot shaped heart”

41. Tetralogy of Fallot • Parents may alleviate hypercyanotic spells by placing infant over shoulder or against chest with knees tucked to chest (like squatting behavior) • More severe spells can be medical emergencies • Surgical correction of lesions by age 2 is preferred in most centers • Palliative surgery for medically unmanageable pts or those with unfavorable anatomy (pulmonary hypoplasia)

42. Transposition of the Great Vessels • ~5 % of all CHD’s • The aorta arises from the right ventrical and the pulmonary artery arises from the left ventrcal. • D-TGA

43. Clinical Presentation • Presents in neonatal period as cyanosis without respiratory distress • May have soft systolic murmurs present • Classic egg on a string CXR appearance • Oval shaped heart with a narrowed mediastunum

44. Surgical Treatment • Arterial Switch- • Aorta is connected to LV with reimplanted coronaries • PA is connected to RV

45. Congenitally Corrected TGA • <1% of CHDs • A morphologic LV pumps to the lungs and a morphologic RV pumps systemically • L-TGA

46. Hypoplastic Left Heart Syndrome • ~1% of CHDs • Consists of an atretic Aortic valve (tiny), hypoplastic left ventrical and ascending aorta

47. Hypoplastic Left Heart Syndrome 95% mortality by 30 days of age if untreated • With surgical intervention • 24% mortality at one month of age • 40% mortality at one year of age • 46% mortality at 5 years of age

48. HLHS • Requires an ASD and PDA for neonatal survival. • Frequently diagnosed with pre-natal ultrasound • Absent or very very small left side

49. Physical Findings • Presents neonatally with hypoxia or rarely after discharge home with delayed ductal closure • Physical findings include cyanosis, respiratory distress and a variable degree of circulatory collapse. • Murmurs are usually absent or soft mid-systolic pulmonary flow murmurs.

50. Diagnostic Studies • CXR shows cardiomegaly and pulmonary congestion • Echo will reveal the lesions, ductal patency (tons of blood flow thru ductus arteriosum) and adequacy of intra-atrial connection