Diagnosis and Early Management of the Infant with

Suspected Congenital Heart Disease

Introduction

• Congenital heart disease occurs in 1% of live-born infants

• Almost 1/2 of all cases of congenital heart disease are diagnosed during the 1st week of life

• The most frequently occuring anomalies seen during the 1st week are: PDA, D-transposition of the great arteries, hypoplastic left heart syndrome, TOF, and pulmonary atresia

Indications for Fetal Echocardiography

Maternal Risk Factors Associated With Congenital Heart Disease

• Congenital heart disease

• Cardiac teratogen exposure– Lithium

– Amphetamines

– Alcohol

– Anticonvulsants: phenytoin, valproic acid, carbamazepine, and trimethadione

– Isotretinoin

Maternal Metabolic Disorders or Infection

• Diabetes mellitus

• PKU

• Hyperthyroidism

• Lupus, collagen vascular disease

• Rubella, CMV, Coxsackie, Parvovirus

Fetal Risk Factors Associated With Congenital Heart Disease

• Trisomies, Turner’s syndrome, abnormal karyotype

• Congenital malformations: duodenal atresia, TEF, omphalocele, diaphragmatic hernia, renal dysgenesis, and hydrocephalus

• Fetal arrhythmias• IUGR• Nonimmune hydrops• ?2 vessel cord

Cyanosis• Etiology: CV, pulmonary, airway obstruction,

neurological, neuromuscular, or hematological (methemoglobinemia or polycythemia)

• Infants can appear cyanotic when the deoxygenated Hgb concentration is at least 3g/dL; it is not related to the percent saturated

• 2 babies with sats of 80%: one with a hgb of 20g/dL and 4g/dL of desaturated hgb will be cyanotic, but an anemic infant with 10g/dL with 2g/dL deoxygenated hgb will not be cyanotic

Evaluation• ABC’s• PE: murmur, pulses, precordium, respiratory

status, HSM, color, capillary refill• 4 ext BPs: if SBP >10mmHg in right hand

compared to lower ext, concerning for arch anomaly (though if normal may not rule it out)

• Pre/post ductal saturations: if see a difference >5%, concerning for PPHN or left heart abnormalities

Evaluation (Continued)• Hyperoxia test: baseline pre-ductal ABG when

infant in room air, then repeat on 100% FiO2• Reason for ABG and not just sats: with a saturation

of 100%, you can have a PaO2 of 80 or 300; very different

• CXR: cardiomegaly; normal, increased, or decreased pulmonary vascularity

• EKG• Echo

Interpretation of hyperoxia test: From Harriet Lane Handbook FiO2= 0.21 PaO2 FiO2 =1.00 PaO2 PaCO2 (%sats) (%sats) Normal 70 (95%) >200 (100%) 35 Pulmonary Dz 50 (85%) >150 (100%) 50 Neurologic Dz 50 (85%) >150 (100%) 50 Methemoglobinemia 70 (95%) >200 (100%) 35 Cardiac Dz Separate circulation (TGA no VSD) <40 (<75%) <50 (85%) 35 Restricted PBF ( TA +PS, PA, PS + no VSD, TOF) < 40 (<75%) <50 (<85) 35 Complete mix no restricted PBF 50 (85%) <150 (<100%) 35 (Truncus, TAPVR, Single Vent,

TGA +VSD, TA no PA or PS) PPHN Preductal Post ductal PFO no R->L shunt 70 (95%) <40 (<75%) Variable 35-50 PFO + R->L shunt <40 (<75%) <40 (75%) Variable 35-50

Specific Heart Disease Abnormalities

Cyanotic With Decreased Pulmonary Blood Flow

• Tetrology of Fallot

• Ebsteins Anomaly

• Tricuspid Atresia with PA or PS

• Pulmonary atresia with intact septum

• Critical pulmonic stenosis

• PPHN

Right Sided Obstructive Lesions

• Cyanosis• No respiratory distress• Normal pulses and perfusion• Single second heart sound• Murmur• Moderate to marked hypoxemia• CXR: normal to large sized heart, decreased

pulmonary blood flow (PBF)

Tetralogy of Fallot

Tetrology of Fallot

Ebstein’s Anomaly

Ebstein’s Anomaly

Tricuspid Atresia

Tricuspid Atresia

EKG : QRS axis

•Tricuspid atresia with PS or PA with intact ventricular septum: superior (0— -90)•Critical PS or PA : 0 to 90 degree quadrant•TOF and TOF with PA: 90-180 degree quadrant

Cyanotic With Increased Pulmonary Blood Flow

• d-Transposition of the great vessels• Truncus arteriosus• Total anomalous pulmonary venous return,

above diaphragm• Single ventricle• Endocardial cushion defect

Inadequate Mixing Lesions

• Cyanosis• Mild tachypnea• Normal pulses• Single heart sound• Murmur• ABG: marked hypoxemia, + acidosis• CXR: cardiomegaly, normal or increased

PBF

Transposition of the Great Arteries

d - Transposition of the Great Vessels

Truncus Arteriosus

Truncus Arteriosus

Lesions with Poor Gas Exchange

• Cyanosis

• Marked tachypnea

• Fair perfusion, normal pulses

• May or may not have a single heart sound

• May or may not have a murmur

• CXR: normal heart size, pulmonary congestion

Total Anomalous Pulmonary Venous Return

Total Anomalous Pulmonary Venous Return

Left Sided Obstructive Lesions

• Coarctation of aorta, interrupted aortic arch

• Hypoplastic left heart syndrome

• Aortic stenosis

• Mitral stenosis

• Total anomalous pulmonary venous return, below diaphragm

Left Sided Obstructive Lesions

• Grey or ashen color• Tachypnea• Poor perfusion• Decreased pulses/differential pulses• Single second heart sound• Murmur + gallop• Hepatomegaly• ABG: metabolic acidosis• CXR: cardiomegaly with increased PBF

Coarctation of the Aorta

Hypoplastic Left Heart Syndrome

Hypoplastic Left Heart Syndrome

Aortic Stenosis

Acyanotic With Increased Pulmonary Blood Flow

• VSD

• ASD

• PDA

• Endocardial cushion defect

Ventricular Septal Defect

Ventricular Septal Defect

Atrial Septal Defect

Atrioventricular Canal

Patent Ductus Arteriosus

Initial Stabilization

• ABC’s: Volume resuscitation, ionotorpic support, correction of metabolic acidosis, r/o sepsis

• Intubate if needed, titrate Fi02 to keep Sp02 80%-85% to prevent pulmonary overcirculation

• Placement of umbilical lines• Infants who present in shock within the first 3

weeks of life, consider ductal dependent lesions• Use of PGE1 (0.025 to 0.1mcg/kg/min)

Stabilization for Transport

• Reliable vascular access• Intubation if on PGE1, OG placement• Oxygen delivery, Sp02• Monitor HR, tissue perfusion, blood

pressure, and acid-base status• Calcium and glucose status (increased risk

for DiGeorge)

Prostaglandin E1

• Failure to respond: diagnosis incorrect, older infant with unresponsive ductus, ductus absent, obstructed pulmonary venous return

• Clinical deterioration after PGE1: obstructed blood flow out of pulmonary veins or left atrium, HLHS with restrictive FO, TGA with intact ventricular septum and restrictive FO, obstructed TAPVR, mitral atresia with restrictive FO

PGE 1 - Side Effects• Common: Apnea, fever, leukocytosis,

cutaneous flushing, and bradycardia.

• Uncommon: seizures, hypoventilation, hypotension, tachycardia, cardiac arrest, sepsis, diarrhea, DIC, fever

• Rare: urticaria, bronchospasm, hemorrhage*, hypoglycemia, and hypocalcemia

*inhibits platelet aggregation