II. Epidemiology
- Incidence: 75 cases per 1000 live births (up to 1%, or 40,000 per year in U.S.)
- Serious causes requiring surgery in first year of life occur in 25% of cases
III. Precautions
- Up to 60% of Congenital Heart Disease has a delayed diagnosis
IV. Causes
- See Congenital Heart Disease Causes
-
Ventricular Septal Defects account for 25% of cases
- Most common Congenital Heart Disease surgical repair
- Secundum-type Atrial Septal Defects (Ostium Secundum) account for 10% of cases
V. Risk Factors
- See Newborn History
- Maternal Diabetes Mellitus
-
Family History of Congenital Heart Disease
- Maternal history: 5-10% CHD risk
- Sibling history: 2-3% CHD risk
- Rubella exposure in first trimester (PDA)
- Residence at high altitude (PDA)
- Systemic Lupus Erythematosus
- Maternal medications and substances
- See Family History below
VI. Associated Conditions
- Trisomy 21 (50% Incidence of Congenital Heart Disease, Endocardial Cushion Defects)
- Trisomy 18 (95% Incidence of Congenital Heart Disease)
- Trisomy 13 (80-90% incidence Congenital Heart Disease)
-
Turner Syndrome (45, XO)
- Aortic Coarctation
- Aortic root abnormalities
- Hypertension
-
Marfan Syndrome
- Aortic aneurysm
- Aortic root dilation
- Mitral Valve Prolapse
-
Noonan Syndrome
- Pulmonic stenosis
- Aortic Coarctation
- Fetal Alcohol Syndrome
- Acquired conditions
- Other
- Phenylketonuria
- Osteogenesis Imperfecta
- Pierre Robin Syndrome
- Underdeveloped jaw, Tongue displaced posteriorly, Cleft Palate and upper airway obstruction
- DiGeorge Syndrome (Catch 22 Syndrome, Velocardiofacial Syndrome)
- Cardiac defects, abnormal facial features, thymic hypoplasia, Cleft Palate and Hypocalcemia
- VACTERL Association
- Vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal and limb anomalies
- CHARGE Syndrome
- Coloboma, heart defects, atresia choanae, growth retardation, genital, and ear anomalies
VII. Differential Diagnosis
- See Neonatal Distress Causes
- Neonatal Sepsis
- Pneumonia
- Inborn Errors of Metabolism
- Structural heart disease
- Myocarditis
- Dilated Cardiomyopathy
- Supraventricular Tachycardia
- Hypoglycemia
- Neurologic and Hematologic causes are much less common
VIII. History: Family
- Family History of Congenital Heart Disease
- Maternal history
- Diabetes Mellitus
- Associated with transient Hypertrophic Cardiomyopathy, tetralogy, Truncus Arteriosus, double outlet RV
- Congenital Heart Defects in 3-5% of infants born to diabetic mothers
- Rubella
- Associated with peripheral pulmonary stenosis, Patent Ductus Arteriosus
- Maternal Obesity
- BMI >40 doubles Prevalence for aortic arch defects and Great Vessel transposition
- Increased maternal BMI also associated with Atrial Septal Defect, persistent ductus arteriosus
- Diabetes Mellitus
- Maternal drug and medication uses
- Alcohol use during pregnancy
- See Fetal Alcohol Syndrome associations above
- Valproate (Valproic Acid)
- Associated with Aortic Coarctation, Hypoplastic Left Heart Syndrome
- Lithium
- Associated with Ebstein Anomaly tricuspid valve
- Selective Serotonin Reuptake Inhibitors (SSRI)
- Associated in some studies with Ventricular Septal Defect, bicuspid aortic valve
- NSAIDs (e.g. Indomethacin, Ibuprofen)
- Premature ductus arteriosus closure (Odds Ratio 15 if third trimester exposure)
- Hydantoin (Phenytoin)
- Trimethadione
- Primidone
- Carbamazepine (Tegretol)
- Retinoic Acid
- Chemotherapy
- Mycophenolate mofetil (Cellcept)
- Warfarin (Coumadin)
- ACE Inhibitors
- Alcohol use during pregnancy
IX. Symptoms
- Children at any age
- Younger children
- Poor feeding
- Neonatal Respiratory Distress
- Impaired pulmonary Blood Flow or arterio-venous mixing lesions
- Failure to Thrive, Short Stature or Developmental Delay
- Consider genetic disorder
- Older children
- Exercise Induced Syncope, Near Syncope or Cyanosis
- Aortic Stenosis
- Hypertrophic Cardiomyopathy
- Anomalous Coronary Artery origin
- Decreased Exercise tolerance
- Palpitations
- Chest Pain (<6% due to cardiac source)
- Hypertrophic Cardiomyopathy (or other left ventricular outflow obstruction)
- Exercise Induced Syncope, Near Syncope or Cyanosis
X. Signs
- See Pediatric Vital Signs
-
Skin Color
- Central Cyanosis in Infants (typically out of proportion to respiratory distress, >10 min after birth)
- ' Cyanosis that worsens with crying suggests cardiac cause
- Cyanosis that improves with crying is suggests pulmonary cause
- Skin mottling in infants suggests aortic disorder
- Pink skin in an infant with findings of CHF
- Left to right heart shunt (e.g. large ASD or VSD)
- Other skin findings of decreased perfusion
- Prolonged Capillary Refill Time
- Mottled extremities
- Cool distal extremities
- Signs of Respiratory distress
- Difficult feeding precedes Congestive Heart Failure
- Term infant parameters
- Prolonged feeding longer than 40 minutes
- Less than 2 ounces per feeding
- Distress signs provoked by feeding
- Tachypnea
- Diaphoresis
- Subcostal retraction
- Failure to Thrive
- Height and Head Circumference may be normal
- Weight falls behind
- Term infant parameters
- Precordial examination
- S3 Gallup Rhythm, cardiac thrill or heave (CHF)
- Cardiac Murmur
- See Pediatric Murmur evaluation
- Often the least important of the Congenital Heart Disease exam
- Anterior Chest wall and sternal deformities (e.g. Pectus Carinatum)
- Associated with Relative Risk at least double for Congenital Heart Disease
- Femoral and Brachial Pulse
- Evaluate strength, symmetric and timing (asymmetry detects Aortic Coarctation)
- Compare both brachial pulses for symmetry
- Brachial pulses absent in left sided obstruction
- Compare one brachial and one femoral pulse
- Femoral Pulses diminish with PDA closure
- Other Congestive Heart Failure signs
-
Oxygen Saturation in the right hand (pre-ductal)
- Hyperoxia testing involves delivering 100% oxygen for 10 minutes
- Pulmonary cause related Cyanosis
- Supplemental Oxygen 100% increases O2 Sat >95% or
- Supplemental Oxygen 100% improves O2 Sat more than 10% above baseline on room air
- Cyanotic Congenital Heart Disease causes
- Supplemental Oxygen 100% increases O2 Sat <85%
- Oxygen Saturation drops with Agitation
- Also obtain postductal Oxygen Saturation in upper and lower extremities
- Note significant discrepancy between upper and lower extremities (4% difference is significant)
- Increased discrepancy consistent with Aortic Coarctation, persistent Pulmonary Hypertension
-
Blood Pressure in all 4 extremities
- Pressure gradient >10-20 mmHg between right upper and the lower pressure left leg
- May suggest Aortic Coarctation
- Pressure gradient >10-20 mmHg between right upper and the lower pressure left leg
-
General Examination
- Concurrent Congenital defects (present in 25% of cases)
XI. Labs
- Basic metabolic panel (e.g. chem8)
- Complete Blood Count (CBC)
-
Arterial Blood Gas
- Drawn from the right radial artery on room air
- PaO2 <60 on room air suggests CHD
- Consider repeat after 10 minutes on 100% oxygen
- PaO2 <150 after 100% oxygen for 10 minutes suggests CHD
- Expect PaO2 to increase 30 mmHg or more on oxygen if Cyanosis due to pulmonary cause
- Inadequate increase suggests cyanotic heart disease
- May also be performed non-invasively with Oxygen Saturation (see signs above)
- Drawn from the right radial artery on room air
- Labs not routinely recommended
- B-Type Natriuretic Peptide
- Troponin (non-specific, elevated in Neonatal Respiratory Distress)
- Infection evaluation in febrile infants
XII. Imaging
-
Chest XRay
- See Chest XRay in Congenital Heart Disease
- Findings may include Cardiomegaly and increased pulmonary vascular markings
- Early Echocardiogram
- Consider bedside Rapid Ultrasound for Shock and Hypertension (RUSH Exam)
- Advanced imaging
- Chest MRI
XIII. Diagnostics: Electrocardiogram (EKG)
- Normal newborn
- Right Axis Deviation (right ventricle dominant)
-
General abnormalities
- Tachycardia
- Wide QRS Complex
- Non-Sinus Rhythm (no consistent P Waves)
- Prolonged QT Interval (especially if >500 ms)
-
Left Ventricular Hypertrophy
- Associated with left-sided obstruction (e.g. Aortic Coarctation, Critical Aortic Stenosis)
-
Right Ventricular Hypertrophy
- Associated with right-sided obstruction (e.g. tricuspid or pulmonic atresia, pulmonic stenosis, Pulmonary Hypertension)
- Tetralogy of Fallot may demonstrate RVH after 6 months of age
- Lext axis deviation (QRS positive in I and negative in II, avF)
- Seen in left-to-right shunt, VSD, PDA, tricuspid atresia, Aortic Coarctation
-
Extreme Right Axis Deviation (QRS negative in I, negative in avF)
- Seen in severe pulmonary stenosis, transposition, tetralogy, single ventricle, Truncus Arteriosus, AV canal defect
XIV. Approach: Cardiac Presentations in infants
- Nonstructural causes of cardiac emergencies in infants
- Arrhythmias (e.g. Bradycardia, Tachycardia)
- Myocardial dysfunction
- Structural causes of cardiac emergencies in infants
- Volume Overload (e.g. VSD, ASD, PDA, TAPVR, Truncus, AV Canal)
- Pressure Overload
- Left-sided obstruction (e.g. Hypoplastic Left Heart, Aortic Coarctation, Aortic Stenosis or atresia)
- Right-sided obstruction (e.g. pulmonary or tricuspid atresia, pulmonic stenosis, Ebstein's Anomaly)
XV. Diagnosis
- See Congenital Heart Disease Causes
- Early Presentations in Newborns in first month of life (Ductal Dependent Lesions)
- Blue Neonate (right-sided obstructive lesion)
- Right to left shunt results in systemic Blood Flow (Qs) that is greater than pulmonary Blood Flow (Qp)
- Presents with Cyanosis (O2 Sat <65%), but normal perfusion (SBP>70 mmHg)
- Causes: Pulmonary or Tricuspid atresia, Tetralogy, Ebstein Anomaly, Transposition
- Grey Neonate (left-sided lesion)
- Left to right shunt results in pulmonary Blood Flow (Qp) that is greater than systemic Blood Flow (Qs)
- Presents in shock with poor perfusion (SBP <60 mmHg), but normal oxygenation (O2 Sat >90%)
- Progresses from shock with Tachycardia and vascoconstriction to Left Ventricular Failure and Pulmonary Edema
- Causes: Hypoplastic Left Heart, Aortic Coarctation, Aortic Stenosis or atresia
- Blue Neonate (right-sided obstructive lesion)
- Delayed Presentations in Infants (presenting after first month of life)
- Blue Infant (Cyanosis may be subtle)
- Mixing of oxygenated and deoxygenated blood AND increased pulmonary Blood Flow (Qp)
- Causes: TAPVR, Truncus Arteriosus
- Pink Infant (volume overload, Pulmonary Hypertension, CHF)
- Left to right shunt results in pulmonary Blood Flow (Qp) that is greater than systemic Blood Flow (Qs)
- Causes: ASD, VSD, PDA
- Blue Infant (Cyanosis may be subtle)
XVI. Management: Initial management and stabilization
- Pediatric cardiology Consultation (or neonatology if at community hospital)
- Obtain early in presentation
-
Supplemental Oxygen
- See precautions regarding hyperoxygenation risks below
- Unstable infants should be given initial Supplemental Oxygen regardless of underlying suspected cause
- Suspect CHD if clinical status worsens with Supplemental Oxygen or grey, non-cyanotic infant (see above)
- Reduce FIO2 to lowest setting that maintains adequate Oxygen Saturation 85-90%
- Lower FIO2 allows for greater pulmonary vascular resistance and greater systemic Blood Flow
-
Intravenous Access
- Obtain 2 IVs if PGE-1 use is planned
- Umbilical Vein Catheter if unable to place other access
-
Undifferentiated Shock or following PGE-1 in cyanotic infants may require fluid bolus trial
- Normal Saline 5-10 cc/kg bolus may be trialed and then recheck clinical status
- Cardiac monitor as well as labs and diagnostics as above
-
Endotracheal Intubation (if needed, especially after PGE-1)
- RSI: Fentanyl 1 mcg/kg and Rocuronium (avoid Benzodiazepines)
- Consider Ketamine for sedation in Pulmonary Hypertension (decreases pulmonary vascular resistance)
- Consider Atropine for RSI premedication to prevent Bradycardia with intubation
- Preoxygenation and Apneic Oxygenation during intubation is still recommended regardless of cardiac defect
- Reduce FIO2 grey, non-cyanotic infant to maintain FIO2 85-90% (see above)
- Administer Prostaglandin E1 (PGE-1)
- Indicated for suspected Ductal Dependent Lesion (most cases with Cyanosis or cardiovascular collapse)
- Discuss with Pediatric cardiology, neonatology
- Indicated for infant with severe Hypoxia (especially oxygen refractory) or shock
- Do not administer without airway and respiratory management equipment at bedside (or intubated)
- PGE-1 Low Dose (lower apnea, Hypotension, Bradycardia risks)
- Load: 20 ng/kg/min (0.02 mg/kg/min) in 5% Dextrose
- Maintenance: 10 ng/kg/min and titrate to effect every 15-20 minutes
- PGE-1 High Dose (if patient intubated, refractory to low dose)
- Load: 50 ng/kg/min (0.05 mg/kg/min) in 5% Dextrose
- Titrated to effect every 15-20 minutes
- Monitor clinical status after starting dose
- Blood Pressure, perfusion, Capillary Refill and urinary output
- Cyanosis and Oxygen Saturation
XVII. Management: Ductal Dependent Lesions
- Distinguishing ductal dependent pulmonary versus ductal dependent systemic flow is critical to driving management
- Hypotension following PGE-1 is common and should be anticipated
- Choosing the wrong agent (i.e. pressor in coarctation) can have lethal consequences
- Ductal dependent pulmonary Blood Flow (cyanotic heart disease, blue baby)
- Presents with Cyanosis, severely decreased Oxygen Saturation (e.g. 40%) and a normal Chest XRay
- Prostaglandin E1 (PGE-1) maintains an open PDA
- Hypotension (occurs with PGE-1, requires 2 IV/IO)
- Phenylephrine (or Epinephrine, Norepinephrine, Dopamine)
- Increases systemic Afterload, shunting blood to the pulmonary circulation
- Consider fluid challenge of Normal Saline 5-10 cc/kg
- Ductal dependent systemic Blood Flow (acyanotic heart disease, gray baby)
- Presents with pink, non-cyanotic with shock, poor perfusion, Hypotension and Tachycardia
- Systolic Blood Pressure is significantly higher in arms then legs (in range of 40 mmHg difference)
- Chest XRay may show Congestive Heart Failure
- Prostaglandin E1 (PGE-1) maintains an open PDA
- Treatment goal is Afterload reduction
- Hypotension (occurs with PGE-1, requires 2 IV/IO)
- Milrinone (preferred)
- Dobutamine (second-line alternative)
- AVOID Vasopressors (e.g. Phenylephrine, Epinephrine, Norepinephrine)
- Risk of worsening an already critical Aortic Coarctation resulting in Cardiac Arrest
- References
- Sloas, Checchia and Orman in Majoewsky (2013) EM: Rap 13(9): 8
XVIII. Management: Congestive Heart Failure
XIX. Precautions: Acute presentation of Congenital Heart Disease
- Permissive Hypoxia (85-90% Oxygen Saturation) maintains a Patent Ductus Arteriosus
- Allows for compensation prior to definitive management
- Avoid hyperoxygenating to 100% Oxygen Saturation in suspected new presentation of Congenital Heart Disease
- Risks closure of the ductus arteriosus during the initial evaluation and management
- Oxygen Saturation of 85% may be target in these patients (base target on local Consultation)
XX. Prevention: Children with Congenital Heart Disease
- Annual Influenza Vaccination
- Pneumococcal Vaccination
- SBE Prophylaxis
XXI. Prevention: Screening for Congenital Heart Disease in the newborn nursery
- Protocol suggested as part of routine well Newborn Exam
- Obtain preductal (right arm) and postductal (left leg) before newborn discharge home
- Post-ductal Oxygen Saturation is effective screening
XXII. Prognosis
- Serious causes of CHD account for 25% of the roughly 40,000 cases in the U.S. per year
- Of these serious causes (~10,000 cases/year in U.S.), 25% do not survive beyond first birthday
XXIII. Complications: Post-Cardiac Repair
- Background
- Congenital Heart surgical repairs include Norwood Procedure, Glenn Procedure, Fontan Procedure, BT Shunt
- These repairs have allowed children to survive CHD that would otherwise be fatal
- However, the repairs re-route blood to mimic physiologic flow, but these hearts have unique physiology
- Homeostasis is an easily disrupted tight balance between Preload dependence and Cardiogenic Shock
- Consult Cardiology in all cardiopulmonary presentations and new medications with possible hemodynamic effects
-
Pulmonary Hypertension
- Present in most patients with Congenital Heart Disease who have undergone repair
- Chronic Hypoxia (baseline 90-92% Oxygen Saturation)
- Hypoxia at baseline is often present after surgical repair
- Cardiac repairs often result in venous and arterial admixture by design
-
Dysrhythmias
- Cardiac surgical scars increase risk
- Thrombosis risk
- Repairs often leave patients with grafts and synthetic shunts that are thrombogenic
- Infection
- Responsible for 3.4% of deaths following Congenital Heart Disease surgery
- Right to left shunt increases the risk of unfiltered microbes in systemic circulation (including CNS Infection)
- References
- Shoenberger and Saade in Herbert (2019) EM:Rap 19(12): 2-3
- McCracken (2018) J Am Heart Assoc 7(22):e010624 +PMID: 30571499 [PubMed]
XXIV. Resources
- CDC: Congenital Heart Disease Statistics
XXV. References
- Civitarese and Crane (2016) Crit Dec Emerg Med 30(1): 14-23
- Joseph and Webb (2015) Crit Dec Emerg Med 29(1): 10-8
- Cyran (1998) PREP review lecture, October, Phoenix
- Fuchs and Yamamoto (2012) APLS, Jones and Bartlett, Burlington, p. 140
- Saenz (1999) Am Fam Physician, 59(7):1857-66 [PubMed]
- Frank (2011) Am Fam Physician 84(7): 793-800 [PubMed]
- Ford (2022) Am Fam Physician 105(3): 250-61 [PubMed]