Transcript Infant death caused by congenital heart disease

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 1st 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%
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
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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
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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 0.7-77% (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
CRITICAL
COARCTATION
PULMONARY ATRESIA
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
Pulse oximetry as a screening test
Eur J Pediatr (2006) 165: 94–98
POx ≥ 95%
3132 (96%)
POx < 95%
130 (4%)
POx 90-94% and no
suspicion of CHD
109
POx < 90% or
Suspicion of CHD
21
POx repeated
109
Echo
21
POx ≥ 95%
106
POx < 95%
3
Total Echo
24
CHD
17
PPHN
5
Myocardial tumor
1
Normal heart
1
CHD 40
Pox ≥ 95%
23
No murmur
0
Murmur
23
20 VSD
2 PS
1 AVSD
Pulse oximetry as a screening test
Eur J Pediatr (2006) 165: 94–98
POx < 95%
17
No murmur
11
3 HLHS
2 TGA
2 DORV
1 CoA
1 TAC
1 AVSD
1 VSD
Murmur
6
2 TAC
1 DORV
1 critical PS
1 AA
1 PA with VSD
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 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
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
Pediatr Cardiol 26:367–372, 2005
• 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
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
Am J Cardiol. 1999 Mar 15;83(6):908-14.
• 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
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