2. Incidence of CHD
The incidence of moderate to severe
structural congenital heart disease in live
born infants is 6 to 8 per 1,000 live births.
Data from the New England Regional
Infant Cardiac Program suggest that
approximately 3 per 1,000 live births have
heart disease that results in death or
requires cardiac catheterization or surgery
during the first year of life.
3. Top Five Diagnoses Presenting at Different
Ages(%)
Age on admission: 0-6 d
D-Transposition of great arteries 19
Hypoplastic left ventricle 14
Tetralogy of Fallot 8
Coarctation of aorta 7
Ventricular-septal defect 3
Others 49
Age on admission: 7-13 d
Coarctation of aorta 16
Ventricular septal defect 14
Hypoplastic left ventricle 8
D-Transposition of great arteries 7
Tetralogy of Fallot 7
Others 48
Age on admission: 14-28 d
Ventricular septal defect 16
Coarctation of aorta 12
Tetralogy of Fallot 7
D-Transposition of great arteries 7
Patent ductus arteriosus 5
Others 53
5. CYANOSIS – DEFINITION AND DIAGNOSTIC
DIFFICULTIES
PRESENCE OF > 3g/dl of Deoxy Hb which
correlates with 80-85% Spo2.
Can be missed when mild, in dark races
and anemia due to decreased deoxy Hb
Can be misdiagnosed as CCHD in
acrocyanosis, non cardiac causes of
cyanosis like pulmonary causes, CNS
causes and Cyanosis with normal Po2.
6. Differential Diagnosis of Cyanosis in
the Neonate
Primary cardiac lesions
Decreased pulmonary blood flow, intracardiac right-to-left shunt
Critical pulmonary stenosis
Tricuspid atresia
Pulmonary atresia/intact ventricular septum
Tetralogy of Fallot
Ebstein anomaly
Total anomalous pulmonary venous connection with obstruction
Normal or increased pulmonary blood flow, intracardiac mixing
Hypoplastic left heart syndrome
Transposition of the great arteries
Truncus arteriosus
Complete common atrioventricular canal
Total anomalous pulmonary venous connection without obstruction
Other single-ventricle complexes
7. Pulmonary lesions (intrapulmonary right-to-left shunt)
Primary parenchymal lung disease
Aspiration syndromes (e.g., meconium and blood)
Respiratory distress syndrome
Pneumonia
Airway obstruction
Choanal stenosis or atresia
Pierre Robin syndrome
Tracheal stenosis
Pulmonary sling
Absent pulmonary valve syndrome
Extrinsic compression of the lungs
Pneumothorax
Pulmonary interstitial or lobar emphysema
Chylothorax or other pleural effusions
Congenital diaphragmatic hernia
Thoracic dystrophies or dysplasia
8. Other causes
Hypoventilation
Central nervous system lesions
Neuromuscular diseases
Sedation
Sepsis
Pulmonary arteriovenous malformations
Persistent pulmonary hypertension
Cyanosis with normal PO2
Methemoglobinemia
Polycythemia
9. Hyperoxia Test
Most sensitive and specific tool for
evaluation of a neonate with suspected
CHD especially in the absence of ECHO.
Helps to differentiate the cardiac and non
cardiac causes of cyanosis
PGE1 can be initiated based on the findings
of this test.
Initial measurement in room air then after
10 min of 100% o2 arterial or TCOM Po2 is
measured.
10. Hyperoxia test contd…
Pulse oximetry not reliable
Both pre and post ductal sites used
Differential cyanosis can aid in diagnosis
>250mmhg- no structural cyanotic HD
< 100 mmHg – intracardiac shunting-
CCHD
100-250 mmHg- intracardiac mixing
lesions
< 100 mmHg most likely duct dependent
lesion so PGE1 can be started until
anatomic lesion defined
11. History and physical examination
Onset of cyanosis
Hypoxic spells, exercise
intolerance, squatting, frequent chest
infections, CHF, Failure to thrive
Cyanosis, clubbing, pulse, Four limb
BP, growth, dysmorphology
Cardiovisceral situs
Palpation and auscultation
12. Salient clinical findings of conditions with
decreased PBF
TOF: Cyanosis proportional to
RVOT obstruction
Cyanotic spells and its
management
RV apex, parasternal heave
, Single S2, Ejection systolic
murmur at Left upper sternal
edge
TOF with PA: Single S2 but soft
murmur sometimes continuous
from the MAPCAS. Occasionally
CCF
13. Tricuspid atresia: cyanosis, LV
impulse, S2 single, Holosystolic
murmur along left sternal edge
TGA with VSD and PS or DORV
with PS- TOF picture
Ebstein’s- depends on degree of
displacement of Tricuspid
Valve, can be mild till teenage
or severe with cyanosis in
neonate.
WPW syndrome is an
association, multiple clicks, holo
systolic TR murmur, gallop.
14. Salient clinical findings of conditions with
Increased PBF
D-TGA with IVS- CYANOSIS and
tachypnea, S2 single and loud, soft or
absent MURMUR.
D-TGA with VSD- presents with cardiac
failure, subtle cyanosis and holo
systolic VSD murmur.
L-TGA- physiologically corrected so can
be asymptomatic but may have
associated lesions like
VSD, EBSTEIN’S, PS, WPW syndrome
etc.
15. DORV without PS is like VSD
DORV WITHOUT PS
DORV+TGA, TAUSSIG
DORV+ TGA- Sub arterial BING TYPE
VSD, Cardiac Failure, Loud
ESM, left sided obstructive
lesions are common
16. Salient clinical findings of conditions with
increased PBF
TAPVR- L-R
shunt with
Cardiac failure
features, varia
ble cyanosis
depending on
the
obstruction, m
ay need
emergency
surgery, no
response to
PGE1.
17. Truncus
arteriosus- in
neonates
murmur and
mild
cyanosis, later
develops
Cardiac
failure, valve
insufficiency, si
ngle S2, Loud
ESM with thrill
and MDM due
to mitral flow
murmur
18. Single ventricle- with PS-
TOF like, without PS-TGA
with VSD like
SINGLE VENTRICLE
HLHS
Hypoplastic left heart
syndrome-cyanosis and poor
perfusion and cardiac failure
with non descript murmur.
44. Medical Management
PGE1: drug used to maintain patency of ductus
arteriosus in duct dependent conditions for
systemic and pulmonary blood flow
0.01-0.4 mic./kg/min titrated according to
response. Lower doses effective and central line
is preferred not mandatory. Dilute with NS OR
5%D
Apnea, hypotension, pyrexia, flushing, diarrhea,
edema, gastric outlet obstruction, inhibition of
platelet aggregation on long term use.
45. Antifailure medications used to treat heart
failure in mixing lesions.
Frusemide , spironolactone, digoxin, and
captopril can be used.
Prognosis after Surgery
Tetralogy of Fallot: Surgical risk<5 percent and
performed as early as 3 months of age usually
between 4-6 months, post op need to look for
RV failure, PR, Conduction blocks, residual
VSD.
TOF WITH PA: BT shunt or direct complete
repair: RV-PA conduit +VSD CLOSURE
For MAPCAs - unifocalisation
46. Prognosis contd…
Tricuspid atresia- 5 year survival 80% and
10 year survival 70% post op.
HLHS:25% MORTALITY stage 1, 5% for
Stage 2, 15-20% for Stage 3. Overall
survival after stage 3 55% at 4 years.
Ebstein’s : 5-20% mortality in valve repair
and ASD closure
Truncus Arteriosus: 10-30% surgical
mortality
DORV: Rastelli: 5-15% mortality
47. References
Nelson’s TB of Pediatrics 18th edn.
Cloherty manual of neonatal care, 6th edn,
Park, Paediatric cardiology for
practitioners, 5th edn
Nada’s text book of Paediatric cardiology,
2nd edn
A practical approach to Cyanotic
congenital heart disease, Yip WCL, Tay
JSH: Singapore medical journal, 1983