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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

Newborn Congenital Heart DiseaseScreening and Management

David P. Chan, M.D.

Congenital Heart Center

Children’s Hospital of Illinois/OSF

UICOMP

case presentation
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
importance of detection
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

cardiac disease in the newborn
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.
congenital heart disease etiology
Congenital Heart Disease: Etiology
  • Multifactoral (most common)
  • Single gene mutations
  • Chromosome abnormalities
  • Environmental factors (alcohol, lithium)

DiGeorge 22q11

Trisomy 13

Trisomy 18

Trisomy 21

cardiac disease in the newborn1
CARDIAC DISEASE IN THE NEWBORN

Signs suggestive of cardiac pathology:

  • Cyanosis
  • Shock
  • Congestive heart failure
  • Dysrrhythmias
normal fetal circulation
NORMAL FETAL CIRCULATION

Differences with newborn circulation

  • Ductus arteriosus
  • Foramen ovale
  • Placenta
perinatal changes
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
normal physiology
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.
cyanotic lesions
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
transposition of the great vessels
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
tetralogy of fallot
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?
left to right shunt lesions
Left to Right Shunt Lesions
  • ASD
  • VSD
  • CAVC
  • PDA
  • PAPVC
  • A-P window
  • Truncus arteriosus
atrial septal defect
Atrial Septal Defect
  • Most are asymptomatic
  • RV heave/lift
  • Fixed splitting of S2
  • Diastolic flow rumble
  • Abnormal EKG and CXR
atrial septal defect1
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
asd device closure
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

ventricular septal defect
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
slide27
VSD

Muscular VSD

Perimembranous VSD

shock in the neonate
SHOCK IN THE NEONATE
  • Mitral stenosis (extremely rare)
  • Critical aortic stenosis
  • Coarctation/Interruption of Aorta
  • Hypoplastic left heart syndrome
  • Shone's complex
coarctation of aorta
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
coarctation repair
Coarctation Repair

Repair:

end-to-end anastomosis

Other types of repair:

subclavian flap

interposition graft

balloon angioplasty

hypoplastic left heart syndrome
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
newborn screening
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

not perfect
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
fetal screening
Fetal Screening
  • Increase in appropriate referral from OB U/S screening
  • High accuracy
  • Significant impact in management strategies
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