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

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

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 week ultrasounds (four chamber view)  ~ 50% CHD detectable by abnl 4ch view  Large series unable to evaluate 4ch view in 43%

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

Vienna, Austria

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

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

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

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

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

Ductal dependent PULMONARY ATRESIA CRITICAL COARCTATION

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

Volume load on single ventricles causes an active precordium

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)

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

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

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

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

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

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

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

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

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

Florida registry ▫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 ▫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

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)

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

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

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 Mar 15;83(6):

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

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