Approach to Cyanotic Approach to Cyanotic congenital heart congenital heart

diseasediseaseDr Varsha Atul ShahDr Varsha Atul Shah

Incidence of CHDIncidence of CHD

The incidence of moderate to severe The incidence of moderate to severe structural congenital heart disease in structural congenital heart disease in live born infants is 6 to 8 per 1,000 live live born infants is 6 to 8 per 1,000 live births.births.

Data from the New England Regional Data from the New England Regional Infant Cardiac Program suggest that Infant Cardiac Program suggest that approximately 3 per 1,000 live births approximately 3 per 1,000 live births have heart disease that results in death have heart disease that results in death or requires cardiac catheterization or or requires cardiac catheterization or surgery during the first year of life.surgery during the first year of life.

Top Five Diagnoses Presenting at Top Five Diagnoses Presenting at Different Ages(%)Different Ages(%)

Age on admission: 0-6 dAge on admission: 0-6 d D-Transposition of great arteries 19D-Transposition of great arteries 19 Hypoplastic left ventricle 14Hypoplastic left ventricle 14 Tetralogy of Fallot 8Tetralogy of Fallot 8 Coarctation of aorta 7Coarctation of aorta 7 Ventricular-septal defect 3Ventricular-septal defect 3 Others 49Others 49 Age on admission: 7-13 dAge on admission: 7-13 d Coarctation of aorta 16Coarctation of aorta 16 Ventricular septal defect 14Ventricular septal defect 14 Hypoplastic left ventricle 8Hypoplastic left ventricle 8 D-Transposition of great arteries 7D-Transposition of great arteries 7 Tetralogy of Fallot 7Tetralogy of Fallot 7 Others 48Others 48 Age on admission: 14-28 dAge on admission: 14-28 d Ventricular septal defect 16Ventricular septal defect 16 Coarctation of aorta 12Coarctation of aorta 12 Tetralogy of Fallot 7Tetralogy of Fallot 7 D-Transposition of great arteries 7D-Transposition of great arteries 7 Patent ductus arteriosus 5Patent ductus arteriosus 5 Others 53Others 53

MAJOR CCHD CATEGORIES AND THEIR MAJOR CCHD CATEGORIES AND THEIR OCCURRENCE IN SINGAPOREOCCURRENCE IN SINGAPORE

CYANOSIS – DEFINITION AND CYANOSIS – DEFINITION AND DIAGNOSTIC DIFFICULTIESDIAGNOSTIC DIFFICULTIES

PRESENCE OF > 3g/dl of Deoxy Hb PRESENCE OF > 3g/dl of Deoxy Hb which correlates with 80-85% Spo2. which correlates with 80-85% Spo2.

Can be missed when mild, in dark Can be missed when mild, in dark races and anemia due to decreased races and anemia due to decreased deoxy Hbdeoxy Hb

Can be misdiagnosed as CCHD in Can be misdiagnosed as CCHD in acrocyanosis, non cardiac causes of acrocyanosis, non cardiac causes of cyanosis like pulmonary causes, CNS cyanosis like pulmonary causes, CNS causes and Cyanosis with normal Po2.causes and Cyanosis with normal Po2.

Differential Diagnosis of Cyanosis Differential Diagnosis of Cyanosis in the Neonatein the Neonate

Primary cardiac lesionsPrimary cardiac lesions Decreased pulmonary blood flow, intracardiac right-to-left Decreased pulmonary blood flow, intracardiac right-to-left

shuntshunt Critical pulmonary stenosisCritical pulmonary stenosis Tricuspid atresiaTricuspid atresia Pulmonary atresia/intact ventricular septumPulmonary atresia/intact ventricular septum Tetralogy of FallotTetralogy of Fallot Ebstein anomalyEbstein anomaly Total anomalous pulmonary venous connection with obstructionTotal anomalous pulmonary venous connection with obstruction Normal or increased pulmonary blood flow, intracardiac Normal or increased pulmonary blood flow, intracardiac

mixingmixing Hypoplastic left heart syndromeHypoplastic left heart syndrome Transposition of the great arteriesTransposition of the great arteries Truncus arteriosusTruncus arteriosus Complete common atrioventricular canalComplete common atrioventricular canal Total anomalous pulmonary venous connection without obstructionTotal anomalous pulmonary venous connection without obstruction Other single-ventricle complexesOther single-ventricle complexes

Pulmonary lesions (intrapulmonary right-to-left Pulmonary lesions (intrapulmonary right-to-left shunt) shunt)

Primary parenchymal lung diseasePrimary parenchymal lung disease Aspiration syndromes (e.g., meconium and blood)Aspiration syndromes (e.g., meconium and blood) Respiratory distress syndromeRespiratory distress syndrome PneumoniaPneumonia

Airway obstructionAirway obstruction Choanal stenosis or atresiaChoanal stenosis or atresia Pierre Robin syndromePierre Robin syndrome Tracheal stenosisTracheal stenosis Pulmonary slingPulmonary sling Absent pulmonary valve syndromeAbsent pulmonary valve syndrome

Extrinsic compression of the lungsExtrinsic compression of the lungs PneumothoraxPneumothorax Pulmonary interstitial or lobar emphysemaPulmonary interstitial or lobar emphysema Chylothorax or other pleural effusionsChylothorax or other pleural effusions Congenital diaphragmatic herniaCongenital diaphragmatic hernia Thoracic dystrophies or dysplasiaThoracic dystrophies or dysplasia

Other causesOther causes HypoventilationHypoventilation Central nervous system lesionsCentral nervous system lesions Neuromuscular diseasesNeuromuscular diseases SedationSedation SepsisSepsis Pulmonary arteriovenous malformationsPulmonary arteriovenous malformations Persistent pulmonary hypertension Persistent pulmonary hypertension Cyanosis with normal POCyanosis with normal PO22 MethemoglobinemiaMethemoglobinemia PolycythemiaPolycythemia

Hyperoxia TestHyperoxia Test

Most sensitive and specific tool for Most sensitive and specific tool for evaluation of a neonate with suspected evaluation of a neonate with suspected CHD especially in the absence of ECHO.CHD especially in the absence of ECHO.

Helps to differentiate the cardiac and Helps to differentiate the cardiac and non cardiac causes of cyanosisnon cardiac causes of cyanosis

PGE1 can be initiated based on the PGE1 can be initiated based on the findings of this test.findings of this test.

Initial measurement in room air then Initial measurement in room air then after 10 min of 100% o2 arterial or after 10 min of 100% o2 arterial or TCOM Po2 is measured.TCOM Po2 is measured.

Hyperoxia test contdHyperoxia test contd……

Pulse oximetry not reliablePulse oximetry not reliable Both pre and post ductal sites usedBoth pre and post ductal sites used Differential cyanosis can aid in diagnosisDifferential cyanosis can aid in diagnosis >250mmhg- no structural cyanotic HD>250mmhg- no structural cyanotic HD < 100 mmHg – intracardiac shunting- < 100 mmHg – intracardiac shunting-

CCHDCCHD 100-250 mmHg- intracardiac mixing 100-250 mmHg- intracardiac mixing

lesionslesions < 100 mmHg most likely duct dependent < 100 mmHg most likely duct dependent

lesion so PGE1 can be started until lesion so PGE1 can be started until anatomic lesion definedanatomic lesion defined

History and physical examinationHistory and physical examination

Onset of cyanosisOnset of cyanosis Hypoxic spells, exercise intolerance, Hypoxic spells, exercise intolerance,

squatting, frequent chest infections, squatting, frequent chest infections, CHF, Failure to thriveCHF, Failure to thrive

Cyanosis, clubbing, pulse, Four limb Cyanosis, clubbing, pulse, Four limb BP, growth, dysmorphology BP, growth, dysmorphology

Cardiovisceral situsCardiovisceral situs Palpation and auscultationPalpation and auscultation

Salient clinical findings of conditions Salient clinical findings of conditions with decreased PBFwith decreased PBF TOF: Cyanosis proportional TOF: Cyanosis proportional

to RVOT obstructionto RVOT obstruction Cyanotic spells and its Cyanotic spells and its

managementmanagement RV apex, parasternal RV apex, parasternal

heave , Single S2, Ejection heave , Single S2, Ejection systolic murmur at Left systolic murmur at Left upper sternal edgeupper sternal edge

TOF with PA: Single S2 but TOF with PA: Single S2 but soft murmur sometimes soft murmur sometimes continuous from the continuous from the MAPCAS. Occasionally CCFMAPCAS. Occasionally CCF

Tricuspid atresia: cyanosis, LV Tricuspid atresia: cyanosis, LV impulse, S2 single, Holosystolic impulse, S2 single, Holosystolic murmur along left sternal edgemurmur along left sternal edge

TGA with VSD and PS or DORV TGA with VSD and PS or DORV with PS- TOF picturewith PS- TOF picture

Ebstein’s- depends on degree Ebstein’s- depends on degree of displacement of Tricuspid of displacement of Tricuspid Valve, can be mild till teenage Valve, can be mild till teenage or severe with cyanosis in or severe with cyanosis in neonate.neonate.

WPW syndrome is an WPW syndrome is an association, multiple clicks, association, multiple clicks, holo systolic TR murmur, holo systolic TR murmur, gallop.gallop.

Salient clinical findings of conditions Salient clinical findings of conditions with Increased PBFwith Increased PBF D-TGA with IVS- CYANOSIS and D-TGA with IVS- CYANOSIS and

tachypnea, S2 single and loud, tachypnea, S2 single and loud, soft or absent MURMUR.soft or absent MURMUR.

D-TGA with VSD- presents with D-TGA with VSD- presents with cardiac failure, subtle cyanosis cardiac failure, subtle cyanosis and holo systolic VSD murmur.and holo systolic VSD murmur.

L-TGA- physiologically corrected L-TGA- physiologically corrected so can be asymptomatic but may so can be asymptomatic but may have associated lesions like VSD, have associated lesions like VSD, EBSTEIN’S, PS, WPW syndrome EBSTEIN’S, PS, WPW syndrome etcetc..

DORV WITHOUT PSDORV WITHOUT PSDORV+TGA, TAUSSIG DORV+TGA, TAUSSIG

BING TYPEBING TYPE

DORV without PS is like DORV without PS is like VSDVSD

DORV+ TGA- Sub arterial DORV+ TGA- Sub arterial VSD, Cardiac Failure, VSD, Cardiac Failure, Loud ESM, left sided Loud ESM, left sided obstructive lesions are obstructive lesions are commoncommon

Salient clinical findings of conditions Salient clinical findings of conditions with increased PBFwith increased PBF

TAPVR- L-R TAPVR- L-R shunt with shunt with Cardiac Cardiac failure failure features, features, variable variable cyanosis cyanosis depending depending on the on the obstruction, obstruction, may need may need emergency emergency surgery, no surgery, no response to response to PGE1.PGE1.

Truncus Truncus arteriosus- in arteriosus- in neonates neonates murmur and murmur and mild cyanosis, mild cyanosis, later develops later develops Cardiac Cardiac failure, valve failure, valve insufficiency, insufficiency, single S2, single S2, Loud ESM with Loud ESM with thrill and MDM thrill and MDM due to mitral due to mitral flow murmurflow murmur

SINGLE VENTRICLESINGLE VENTRICLEHLHSHLHS

Single ventricle- with PS- Single ventricle- with PS- TOF like, without PS-TGA TOF like, without PS-TGA with VSD likewith VSD like

Hypoplastic left heart Hypoplastic left heart syndrome-cyanosis and syndrome-cyanosis and poor perfusion and poor perfusion and cardiac failure with non cardiac failure with non descript murmur.descript murmur.

Tetralogy of Fallot

TAPVR- Snowman Appearance

Truncus Arteriosus

Tricuspid Atresia

Ebstein’s anomaly

Dextrocardia with situs inversus

D-TGA-EGG ON SIDE APPEARANCE

L- TGA

ECG IN CCHDECG IN CCHD

DETERMINATION OF VENTRICULAR DETERMINATION OF VENTRICULAR HYPERTROPHY AND QRS AXIS DEVIATION HYPERTROPHY AND QRS AXIS DEVIATION AIDS IN DIAGNOSISAIDS IN DIAGNOSIS

ECG IN CCHDECG IN CCHDCCHDCCHD RADRAD LADLAD RAERAE LAELAE RVHRVH LVHLVH RBBBRBBB

TOFTOF + +

++ +post +post repairrepair

PA+IVSPA+IVS ++ ++ ++

TR.ATRETR.ATRESIASIA

++ + + ++

EBSTEIN’EBSTEIN’SS

++ ++

D-TGA D-TGA +VSD+VSD

++ ++ ++ ++

TRUNCUTRUNCUSS

++ ++

TAPVRTAPVR ++ ++

PULMONARY ATRESIA WITH IVS

TRICUSPID ATRESIA

Ebstein’s with WPW Syndrome

RVH IN D-TGA

SHUNT SURGERIES

NORWOOD PROCEDURE

JANTENE’S ARTERIAL SWITCH

Medical ManagementMedical Management

PGE1: drug used to maintain patency of ductus PGE1: drug used to maintain patency of ductus arteriosus in duct dependent conditions for arteriosus in duct dependent conditions for systemic and pulmonary blood flow systemic and pulmonary blood flow

0.01-0.4 mic./kg/min titrated according to 0.01-0.4 mic./kg/min titrated according to response. Lower doses effective and central response. Lower doses effective and central line is preferred not mandatory. Dilute with NS line is preferred not mandatory. Dilute with NS OR 5%DOR 5%D

Apnea, hypotension, pyrexia, flushing, Apnea, hypotension, pyrexia, flushing, diarrhea, edema, gastric outlet obstruction, diarrhea, edema, gastric outlet obstruction, inhibition of platelet aggregation on long term inhibition of platelet aggregation on long term use.use.

Antifailure medications used to treat heart failure in mixing lesions. Frusemide , spironolactone, digoxin, and captopril can be used.

Prognosis after SurgeryTetralogy 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 CLOSUREFor MAPCAs - unifocalisation

Prognosis contd…Prognosis contd… Tricuspid atresia- 5 year survival 80% Tricuspid atresia- 5 year survival 80%

and 10 year survival 70% post op.and 10 year survival 70% post op. HLHS:25% MORTALITY stage 1, 5% for HLHS:25% MORTALITY stage 1, 5% for

Stage 2, 15-20% for Stage 3. Overall Stage 2, 15-20% for Stage 3. Overall survival after stage 3 55% at 4 years.survival after stage 3 55% at 4 years.

Ebstein’s : 5-20% mortality in valve Ebstein’s : 5-20% mortality in valve repair and ASD closure repair and ASD closure

Truncus Arteriosus: 10-30% surgical Truncus Arteriosus: 10-30% surgical mortalitymortality

DORV: Rastelli: 5-15% mortalityDORV: Rastelli: 5-15% mortality

ReferencesReferences

Nelson’s TB of Pediatrics 18Nelson’s TB of Pediatrics 18thth edn. edn. Cloherty manual of neonatal care, 6Cloherty manual of neonatal care, 6thth

edn,edn, Park, Paediatric cardiology for Park, Paediatric cardiology for

practitioners, 5practitioners, 5thth edn edn Nada’s text book of Paediatric Nada’s text book of Paediatric

cardiology, 2cardiology, 2ndnd edn edn A practical approach to Cyanotic A practical approach to Cyanotic

congenital heart disease, Yip WCL, Tay congenital heart disease, Yip WCL, Tay JSH: Singapore medical journal, 1983JSH: Singapore medical journal, 1983

Thank youThank you