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Newborn Congenital Heart Disease Screening and Management

Newborn Congenital Heart Disease Screening and Management. David P. Chan, M.D. Congenital Heart Center Children’s Hospital of Illinois/OSF UICOMP. Case Presentation. Born at 39 weeks GA No problems reported during pregnancy Uneventful delivery D/C home during 2 nd day of life

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Newborn Congenital Heart Disease Screening and Management

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  1. Newborn Congenital Heart DiseaseScreening and Management David P. Chan, M.D. Congenital Heart Center Children’s Hospital of Illinois/OSF UICOMP

  2. Case Presentation • Born at 39 weeks GA • No problems reported during pregnancy • Uneventful delivery • D/C home during 2nd day of life • Presents to ED at 7 days of life • Poor feeding and poor weight gain • Gray and lethargic • Acidotic • Diagnosed with HLHS

  3. Importance of Detection • Congenital malformations are one of the leading causes of infant death in the United States and other developed nations, and CCHD is responsible for more deaths than any other type of malformation • The severity of organ damage is a function of the extent of insult, differential flow to organs as the neonatal circulation responds to the hypoxic/ischemic insult, and the oxygen requirement of each organ. • A number of children with CCHD are so severely compromised at presentation that they die before surgical intervention. Role of Pulse Oximetry in Examining Newborns for Congenital Heart Disease A Scientific Statement From the American Heart Association and American Academy of Pediatrics Circulation. 2009; 120: 447-458

  4. CARDIAC DISEASE IN THE NEWBORN • Incidence: 8/1000 of all live births. • Majority of children born with a CHD do not present in the newborn period.

  5. Congenital Heart Disease: Etiology • Multifactoral (most common) • Single gene mutations • Chromosome abnormalities • Environmental factors (alcohol, lithium) DiGeorge 22q11 Trisomy 13 Trisomy 18 Trisomy 21

  6. CARDIAC DISEASE IN THE NEWBORN Signs suggestive of cardiac pathology: • Cyanosis • Shock • Congestive heart failure • Dysrrhythmias

  7. NORMAL CARDIAC PHYSIOLOGY

  8. NORMAL FETAL CIRCULATION Differences with newborn circulation • Ductus arteriosus • Foramen ovale • Placenta

  9. PERINATAL CHANGES • Decrease in pulmonary vascular resistance • Loss of placenta flow • Increase in pulmonary blood flow • Closure of PFO • Increase in oxygenation • Closure of patent ductus arteriosus

  10. NORMAL PHYSIOLOGY • Pulmonary blood flow should equal systemic blood flow. • Systemic venous blood flow goes to the pulmonary artery. • Pulmonary venous blood flow goes to the aorta.

  11. CYANOTIC LESIONS • Normal pulmonary vascular pattern • Transposition of the great arteries • Decrease pulmonary vascular pattern • Tetralogy of Fallot • Pulmonary atresia with VSD • Pulmonary atresia with intact ventricular septum • Tricuspid atresia • Critical pulmonary stenosis • Ebstein's anomaly • Increase pulmonary vascular pattern • TAPVC

  12. TRANSPOSITION OF THE GREAT VESSELS • 5% of CHD • male:female 3:1 • parallel circuits • cyanosis; loud single S2 • CXR: egg on a string • ECG: Nml to RVH • Echo diagnosis • Ductal dependent • ? emergency catheterization

  13. CXR-TGA

  14. TGA-Balloon Septostomy

  15. Arterial Switch Procedure

  16. TETRALOGY OF FALLOT • 10% of CHD • Varying spectrum of cyanosis • SEM at LUSB (across RVOT) • Boot shape heart and right arch • ECG: RAD and RVH • Can be ductal dependent • Tet spell • Surgical shunts?

  17. CXR-TOF

  18. TOF-Repair

  19. Left to Right Shunt Lesions • ASD • VSD • CAVC • PDA • PAPVC • A-P window • Truncus arteriosus

  20. Atrial Septal Defect • Most are asymptomatic • RV heave/lift • Fixed splitting of S2 • Diastolic flow rumble • Abnormal EKG and CXR

  21. ATRIAL SEPTAL DEFECT • Rarely causes symptoms • Four anatomic type • Widely split S2 and SEM LUSB • ECG: RAD and RBBB pattern • CXR: Cardiomegaly with increased PVM • Surgical/Transcatheter closure approximately 2-4 years of age

  22. Atrial Septal Defect

  23. ASD - Surgery

  24. ASD - Percutaneous Closure

  25. ASD-DEVICE CLOSURE Immediate success rate 97.4% At six months, 49/52 complete closure (98%) Hijazi ZM, et al AJC 2000 85(11): 1387-90

  26. VENTRICULAR SEPTAL DEFECT • Usually presents after 2-3 weeks of life with FTT and CHF • P/E depends on size of defect • ECG: LVH or BVH • Spontaneous closure depends on type and size

  27. VSD Muscular VSD Perimembranous VSD

  28. Perimembraneous VSD Closure

  29. SHOCK IN THE NEONATE • Mitral stenosis (extremely rare) • Critical aortic stenosis • Coarctation/Interruption of Aorta • Hypoplastic left heart syndrome • Shone's complex

  30. COARCTATION OF AORTA • High incidence in association with Turner's syndrome • Usually discrete and juxtaductal • If severe can be ductal dependent • Four limb blood pressure can be diagnostic (equal pressure may be indicative of poor cardiac function) • CXR: rib notching and 'E' sign in older children • ECG: LVH? • Need surgical correction

  31. Coarctation

  32. COARCTATION OF AORTA PDA

  33. Coarctation Repair Repair: end-to-end anastomosis Other types of repair: subclavian flap interposition graft balloon angioplasty

  34. HYPOPLASTIC LEFT HEART SYNDROME • Usually presents during the first month of life • Ductal dependent!!!! • PGE1 • P/E: Shock; grey color; poor perfusion; low B/P; tachypneic; tachycardic; +/- cyanosis • CXR: cardiomegaly and Increase PVM • ECG: Lack of left sided forces • Options: Norwood procedure; transplant; nothing

  35. HLHS-CXR

  36. TRADITIONAL SURGICAL APPROACH

  37. Newborn Screening Role of pulse oximetry in examining newborns for congenital heart disease: a scientific statement from the American Heart Association and American Academy of Pediatrics. Mahle WT, Newburger JW, Matherne GP, Smith FC, Hoke TR, Koppel R, Gidding SS, Beekman RH 3rd, Grosse SD; American Heart Association Congenital Heart Defects Committee of the Council on Cardiovascular Disease in the Young, Council on Cardiovascular Nursing, and Interdisciplinary Council on Quality of Care and Outcomes Research; American Academy of Pediatrics Section on Cardiology and Cardiac Surgery, and Committee on Fetus and Newborn. • Circulation. 2009 Aug 4;120(5):447-58 Endorsement of Health and Human Services Recommendation for Pulse Oximetry Screening for Critical Congenital Heart Disease www.pediatrics.org/cgi/doi/10.1542/peds.2011-3211

  38. Recommendation

  39. Not Perfect…. • …the estimated sensitivity for detecting CCHD was 69.6%, and the positive predictive value was 47.0%; however, sensitivity varied dramatically among studies from 0% to 100%. False-positive screens that required further evaluation occurred in only 0.035% of infants screened after 24 hours. • Cost is related to supplies and staff time

  40. Fetal Screening • Increase in appropriate referral from OB U/S screening • High accuracy • Significant impact in management strategies

  41. Thank YouCHOI Congenital Heart Center

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