1. Recognition of Congenital Heart Disease Prenatal and newborn M. Beth Goens, MD Pediatric Cardiology University of New Mexico

2. Objectives Fetal echocardiography in CHD ▫Indications ▫Limitations Newborn assessment for CHD ▫Physical examination ▫Tools for detecting critical CHD  Pulse oximetry  ECG/CXR – limitations  Echocardiography

3. Incidence of congenital heart disease  8/1000 newborns have CHD  3-4/1000 “major” CHD – ie lethal or require surgical or cath intervention in 1 st year of life  ~ 1/1000 will have ductal dependent lesion  Only 15-30% of CHD is diagnosed prenatally despite 18-23 week ultrasounds (four chamber view)  ~ 50% CHD detectable by abnl 4ch view  Large series unable to evaluate 4ch view in 43%

4. Fetal echocardiography Traditional indications ▫Family history of CHD  Previous child  In mother or father ▫Maternal diabetes, PKU, SLE ▫Maternal teratogen exposure (lithium, solvents) ▫Chromosomal abnormality ▫Extracardiac defects ▫Abnormal heart on obstetrical scan

5. Vienna, Austria

6. Use of indications Abnormal heart on obstetrical scan Of 6002 obstetrical scans ▫4.6% referred for fetal echo ▫23% referred because of abnl heart seen  69% of these actually had congenital heart disease (CHD) ▫77% referred for other indication but heart looked normal on obstetrical scan  Only 3.3% had CHD

7. Other indications – need detailed perinatology scan Chromosomal abnormality – 17% Single umbilical artery – 11% Fetal dysrhythmia – 6% Maternal diabetes – 3.7% Extracardiac defects – 2.2% Family history of CHD – 1.6% Do not refer for fetal echo only

8. Evaluation of the newborn 70-85% of newborns with CHD will have had a “normal” prenatal ultrasound Tools to screen for postnatal CHD ▫Physical exam ▫Pulse oximetry ▫Blood pressures ▫Chest x-ray ▫ECG ▫Echocardiography

9. Physical examination Dysmorphic features Vital signs ▫Quiet tachypnea, resting tachycardia, happy cyanosis Precordial activity Auscultation ▫Incidence of murmur in first week of life 0.7-77% (only 0.8% have CHD) Femoral and brachial pulses Physical exam at birth statistically misses 50% of CHD

10. Overview of fetal circulation Classification of heart defects ▫Common defects with low risk of sudden death  ASD, VSD, PDA, PS – 2/3 of all congenital heart defects

11. Ductal dependent PULMONARY ATRESIA CRITICAL COARCTATION

12. General hints of ductal dependent Initially comfortable, exam unremarkable Worsening with transition ▫Increasing tachypnea (quiet at first as compared to lung disease) ▫Progressive cyanosis or pallor ▫As compared to shunt lesions (VSD, AVC, PDA) – generally comfortable and stay that way until 2-6 weeks of age as PVR falls

13. Volume load on single ventricles causes an active precordium

14. Pulmonary atresia, intact ventricular septum O2 saturation depends on the amount of pulmonary blood flow ▫Typically high 70s-80s ▫Can have saturations 90% when ductus is open ▫Progressive cyanosis when ductus closes Physical examination ▫If pink, active precordium ▫All sats equal ▫Murmur of tricuspid regurgitation (LLSB) or PDA (infraclavicular)

15. Coarctation of the aorta Prominent right ventricular impulse Pulses/BP ▫Good femoral pulses at first (duct open) ▫Later decreased ▫Legs should be higher ▫>10 mmHg  is significant Saturations ▫Right arm/foot (pre and post ductal) ▫> 4% difference – recheck  DDx – PPHN ▫Pfo can decrease  Murmur ▫Upper back ▫Ductus as it is closing Perfusion ▫Cooler feet ▫Blue at first, then pale

16. Critical aortic stenosis RV impulse Apical impulse may be diminished (poor function) All pulses diminished Saturations all the same ▫Lower sat – when PDA ▫Then poor perfusion Pale throughout Murmur ▫URSB to neck ▫Ejection click

17. Hypoplastic Left Heart Active precordium ▫Especially if sats 90s Pulses ▫Initially femoral could be better than right arm ▫Later – all diminished Sats – all the same Murmur ▫None ▫Tricuspid regurgitation ▫Ductus in back when closing

18. Transposition of the great arteries “Big, blue, baby boy” Lower incidence of extracardiac defects ▫9% Apical impulse could be normal Maybe no murmur Loud “single” S2 Pre < post ductal sat

19. How can we improve detection? Prenatal diagnosis ▫Only finds ~ 30% ▫Normal 4 chamber view ▫Operator dependent Physical exam at birth ▫Can miss ~50% ▫No murmur ▫Persistent fetal circulation What about pulse oximetry? Tetralogy of Fallot

20. Pulse oximetry Measured in foot, for at least 2 minutes ▫< 95%, remeasure Measured in right hand and foot ▫> 3% difference, remeasure Best if measured at 24 hr ▫But 2-6 hrs allows earlier referral

21. 3262 POx POx ≥ 95% 3132 (96%) POx < 95% 130 (4%) POx 90-94% and no suspicion of CHD 109 POx repeated 109 POx ≥ 95% 106 POx < 95% 3 Total Echo 24 CHD 17 PPHN 5 Myocardial tumor 1 Normal heart 1 POx < 90% or Suspicion of CHD 21 Echo 21 Pulse oximetry as a screening test Eur J Pediatr (2006) 165: 94–98

22. CHD 40 Pox ≥ 95% 23 No murmur 0 Murmur 23 POx < 95% 17 No murmur 11 Murmur 6 20 VSD 2 PS 1 AVSD 3 HLHS 2 TGA 2 DORV 1 CoA 1 TAC 1 AVSD 1 VSD 2 TAC 1 DORV 1 critical PS 1 AA 1 PA with VSD Pulse oximetry as a screening test Eur J Pediatr (2006) 165: 94–98

23. Would pulse ox screening save lives 1 M births (excluded chromosomal abnormalities and extracardiac defects) ▫6965 CHD ▫1830 critical CHD One year survival ▫97.1% for noncritical CHD ▫75.2% critical CHD  72% for infants Dx < 1 do  82.5% for infants Dx > 1do Oster, et al, Pediatrics 2013:131

24. Florida registry 1998-2007 ▫23% of infants with CCHD did not receive a diagnosis during birth hospitalization  1.8% died before readmission  1-2/1000; 4/10,000; 8/1,000,000 California 1998-2004 ▫0.9 infant deaths/100,000 live births in US due to missed CCHD ▫36 infant deaths annually in current US births Estimated with pulse ox screening ▫20 infant deaths/year in US averted

25. Blood pressures Not a good screening tool for asymptomatic newborns ▫Difficult to obtain and to interpret Only after suspicion has been raised ▫Questionable femoral pulses ▫Differential saturations Right arm and one leg Check more than once (q shift)

26. Chest x-ray in newborns with CHD Sensitivity (detects CHD when present) ▫26-59% of the time in all newborns ▫Only 9-18% of the time in babies < 2kg ▫So, could falsely reassure us – MOST of the time Specificity (is normal when there is no CHD) ▫80-90% ▫So, CXR would suggest CHD 10-20% of normals CXR does NOT aid in CHD screening Pediatr Cardiol 26:367–372, 2005

27. Electrocardiogram Not for structural congenital heart defects in the newborn ▫Too many changes in ECG in first week of life Only for arrhythmia ▫Evaluate atrioventricular conduction ▫Some European countries want to mandate universal ECG for long QT

28. Echocardiography Not all echocardiography is equal ▫Pediatric patients in adult echo labs  Poor diagnostic accuracy  44% major abnormality missed (0% in peds)  28% moderate (4%)  12% minor (4%) Trained, pediatric sonographers Review by pediatric cardiologist Am J Cardiol. 1999 Mar 15;83(6):908-14.

29. Prostaglandins before Echo? Prostaglandins are an after load reducer ▫If sepsis, could drop BP ▫Consider dopamine, vasopressin Consider ▫Apnea – intubate for transport? ▫Drop pulmonary vascular resistance – could increase pulmonary overcirculation in shunt lesions. Always reassess for effect ▫Short acting, iv drip

30. Summary Use all data but know limitations ▫Prenatal ultrasounds ▫Newborn physical examination  Vital signs, Precordial activity, Pulses, murmur ▫Pulse oximetry ▫Echocardiography – do not delay transport to get an echo by adult cardiology (tele-echo may help) Follow up is most important for any newborn ▫Pulse oximetry screen is only for critical CHD ▫Non critical could look normal at 2 weeks – don’t wait until 2 month to see back if questions