1. Cyanotic Heart Disease Casey Wong MS III

2. Overview Specific Cyanotic Congenital Heart Diseases Evaluation of Cyanosis Case Presentation

3. Epidemiology of Congenital Heart Disease Incidence of congenital heart disease is 1 in 100 live births Critical Congenital Heart Disease 1 in 400 live births Of these, 1/3 have cyanotic heart disease

4. Etiology of Congenital Heart Disease % of All Lesion OBSTRUCTIVE LESIONS (Coarctation, aortic/pulmonic stenosis)‏ ACYANOTIC LESIONS (VSD 30-35, ASD, PDA)‏ CYANOTIC LESIONS – “5 T’s” Tetralogy of Fallot 5-7 Transposition of great arteries3-5 Truncus arteriosus 1-2 Total Anomalous Pulmonary Venous Return 1-2 Tricuspid atresia 1-2 (pulmonary atresia)1-2 (hypoplastic left heart syndrome)1-2

5. Transposition of the Great Arteries Mixing lesion/ductal independent* *need PGE1 to increase mixing

6. Transposition of Great Arteries Second most common cause of cyanosis in infancy Pulmonary and systemic circulations form two separate circuits Must be mixing between two circuits for life “egg-shaped silhouette”

7. Clinical Findings Severe cyanosis present at birth with vasculature 1/3 have VSD, some have ASD Some have subpulmonic stenosis Loud, single S2 Systolic murmur indicates VSD or pulmonic stenosis ECG reveals right ventricular hypertrophy

8. Transposition of Great Arteries: Tx PGE1 administration necessary Balloon atrial septostomy necessary (Rashkind procedure)‏ Arterial Switch procedure performed first week of life

9. Hypoplastic left heart D uctal Dependent for systemic flow

10. Hypoplastic Left Heart Presents first week of life, as PDA closes symptoms develop PGE administration Ductal dependant systemic blood flow

11. Tricuspid Atresia Ductal Dependent Pulmonary Blood flow

12. Tricuspid Atresia Tricuspid valve fails to develop Hypoplasia of right heart Venous blood from right atrium depends on open ASD or PFO, VSD, PDA

13. Tricuspid Atresia-Clinical Findings Progressive cyanosis as PDA closes 30% transposition of great arteries 70% some degree of Pulmonic stenosis Tacypneic, single S2 Systolic murmur along left lower sternal border (VSD)‏ ECG reveals left ventricular hypertrophy

14. Tricuspid Atresia: Tx PGE1 administration necessary Balloon atrial septostomy shunt placed between subclavian artery and pulmonary artery in neonates when pulmonary resistance still high Eventually superior and inferior vena cava are connected directly to the pulmonary arteries

15. Truncus Arteriosus Mixing lesion/ductal independent

16. Truncus Arteriosus Failure of primitive truncus arteriosus to divide into aorta and pulm A. VSD almost always present Right Sided-arch in about 33% Cardiomegaly, increased pulmonary vascularity, right aortic arch

17. Truncus Arteriosus-Clinical Findings Minimal cyanosis at birth; Death at 6 months Congestive Heart failure develops in weeks  Pulmonary vascular resistance falls and pulmonary blood flow increases at the expense of systemic flow Bounding pulses, pulse pressure widened Loud, single S2 Systolic murmur heard at left sternal border ECG reveals biventricular hypertrophy

18. Truncus Arteriosus: Tx Surgical repair at 2 to 3 months of age  Closing VSD  Separation of pulmonary arteries from truncal vessels  Placing conduit between right ventricle and pulmonary arteries

19. Tetralogy of Fallot Ductual-dependent pulmonary blood flow

20. Tetralogy of Fallot Most Common cause of cyanotic heart disease beyond neonatal period Degree of Pulmonary stenosis and size of VSD determine presentation Variable degree of Cyanosis “Boot Shaped Heart”

21. Tetralogy of Fallot- Clinical Findings squatting “Tet spells” – due to pulmonary outflow tract spasm Severe cases ---at birth---severe PS Mild cases ---- much later---mild PS Cyanosis usually ECG reveals right ventricular hypertrophy

22. Tetralogy of Fallot: Tx Squatting relieves tet spells– venous return, systemic resistance Surgical repair performed during first 3 to 5 years old VSD closed with a patch, pulmonary stenosis opened up with balloon

23. Total Anomalous Pulmonary Venous Connection Ductal-independent mixing lesion (increased PBF) ‏

24. Total Anomalous Pulmonary Venous Connection Pulmonary veins are not connected to the left atrium Systemic circulation dependant on shunting through ASD or PFO Variable degree of Cyanosis-dependant on presence of obstruction snowman

25. Schematic Drawing of Cardiac Defects A: Normal Circulation B: Tetralogy of Fallot C: Pulmonary Atresia D: Tricuspid Atresia E: Transposition of Great Arteries F: Truncus Arteriosus

26. Evaluation of Cyanotic Heart Disease

27. Physical Examination Central Cyanosis vs. Peripheral cyanosis Vital signs Lung and CNS examination to rule these out Cardiac Examination  Heaves, thrills, abnormal or increased precordial activity  Absent or diminished femoral pulses  Abnormal first or second heart sound (abnormal splitting)‏  Extra heart sounds (gallop, ejection click, opening snap)‏  Murmurs that are loud, harsh, blowing

28. History Difficulty feeding, irritablility, diaphoresis, failure to thrive Prenatal history: maternal diabetes, SLE Congenital Infections (TORCH)‏ Drugs taken in pregnancy Family history: heart problem before 50 y.o. Chromosomal Abnormalities

29. Hypoxemia Differential Right-to-Left Shunt  INTRACARDIAC, Great Vessels, pulmonary AV malformation V/Q Mismatch  Pneumonia, atelectasis, aspiration, pulmonary hypoplasia Hypoventilation  CNS depression, Neuromuscular disease, Airway obstruction Diffusion Impairment  Pulmonary edema, pulmonary fibrosis Hemoglobinopathy

30. Lab/Imaging Studies CBC/Sepsis evaluation Chest x-ray Oxygen Saturation (Arterial blood gas, pulse oximetry)‏ Hyperoxia test Electrocardiogram Echocardiography

31. Hyperoxia test- Cardiac or Pulmonary? 50-150mm Hg Truncus Arteriosus ( No restricted pulmonary blood flow)‏ <50 mm Hg Tetralogy of Fallot, Tricuspid Atresia ( Reduced pulmonary flow)‏ <150 mm HgCardiac disease or PPHN (SHUNT) >150mm HgPulmonary disease (V/Q mismatch)‏ On 100% oxygenpaO2

32. Case Presentation

33. History: 6 week old male with 2 days of clear, nasal congestion, no fever Gets bluish after feeding or crying Previously well, full-term baby The family history was negative

34. Case Presentation cont’d Physical: Vigorous male, growing appropriately HR = 135, RR = 30, normal BP, no fever Clear nasal discharge Lungs clear to auscultation b/l, no wheezes, ronchi, rales

35. Case Presentation cont’d Purplish lips, hands and feet Grade III/VI systolic murmur loudest at lower left sternal border Liver was 1.5 cm below right costal margin and a normal spleen Peripheral pulses equal in upper/lower extremities, 1.5 sec cap refill

36. Work Up: Case Presentation cont’d PaO2 of 38mm Hg and a hyperoxia test showed increase to 48mm Hg Electrocardiogram showed RVH Chest X-ray:

38. WHATS THE DIAGNOSIS?

39. Case Presentation cont’d Tetralogy of Fallot IV antibiotics b/c of age and possible sepsis Echocardiogram Cardiac Catheterization and plan surgery