II. Epidemiology

  1. Incidence: 75 cases per 1000 live births (up to 1%, or 40,000 per year in U.S.)
  2. Serious causes requiring surgery in first year of life occur in 25% of cases

III. Precautions

  1. Up to 60% of Congenital Heart Disease has a delayed diagnosis

IV. Causes

  1. See Congenital Heart Disease Causes
  2. Ventricular Septal Defects account for 25% of cases
    1. Most common Congenital Heart Disease surgical repair
  3. Secundum-type Atrial Septal Defects (Ostium Secundum) account for 10% of cases

V. Risk Factors

  1. See Newborn History
  2. Maternal Diabetes Mellitus
  3. Family History of Congenital Heart Disease
    1. Maternal history: 5-10% CHD risk
    2. Sibling history: 2-3% CHD risk
  4. Rubella exposure in first trimester (PDA)
  5. Residence at high altitude (PDA)
  6. Systemic Lupus Erythematosus
  7. Maternal medications and substances
    1. See Family History below

VI. Associated Conditions

  1. Trisomy 21 (50% Incidence of Congenital Heart Disease, Endocardial Cushion Defects)
    1. Ventricular Septal Defect
    2. AV canal defect
    3. Patent Ductus Arteriosus
    4. Tetralogy of Fallot
  2. Trisomy 18 (95% Incidence of Congenital Heart Disease)
    1. Ventricular Septal Defect
  3. Trisomy 13 (80-90% incidence Congenital Heart Disease)
    1. Ventricular Septal Defect
  4. Turner Syndrome (45, XO)
    1. Aortic Coarctation
    2. Aortic root abnormalities
    3. Hypertension
  5. Marfan Syndrome
    1. Aortic aneurysm
    2. Aortic root dilation
    3. Mitral Valve Prolapse
  6. Noonan Syndrome
    1. Pulmonic stenosis
    2. Aortic Coarctation
  7. Fetal Alcohol Syndrome
    1. Atrial Septal Defect
    2. Ventricular Septal Defect
    3. Tetralogy of Fallot
  8. Acquired conditions
    1. Rheumatic Fever
    2. Kawasaki Disease
  9. Other
    1. Phenylketonuria
    2. Osteogenesis Imperfecta
    3. Pierre Robin Syndrome
      1. Underdeveloped jaw, Tongue displaced posteriorly, Cleft Palate and upper airway obstruction
    4. DiGeorge Syndrome (Catch 22 Syndrome, Velocardiofacial Syndrome)
      1. Cardiac defects, abnormal facial features, thymic hypoplasia, Cleft Palate and Hypocalcemia
    5. VACTERL Association
      1. Vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal and limb anomalies
    6. CHARGE Syndrome
      1. Coloboma, heart defects, atresia choanae, growth retardation, genital, and ear anomalies

VII. Differential Diagnosis

VIII. History: Family

  1. Family History of Congenital Heart Disease
    1. Hypertrophic Cardiomyopathy
    2. Ventricular Septal Defect
    3. Mitral Valve Prolapse
    4. Premature Sudden Cardiac Death
    5. SIDS
  2. Maternal history
    1. Diabetes Mellitus
      1. Associated with transient Hypertrophic Cardiomyopathy, tetralogy, Truncus Arteriosus, double outlet RV
      2. Congenital Heart Defects in 3-5% of infants born to diabetic mothers
    2. Rubella
      1. Associated with peripheral pulmonary stenosis, Patent Ductus Arteriosus
    3. Maternal Obesity
      1. BMI >40 doubles Prevalence for aortic arch defects and Great Vessel transposition
      2. Increased maternal BMI also associated with Atrial Septal Defect, persistent ductus arteriosus
  3. Maternal drug and medication uses
    1. Alcohol use during pregnancy
      1. See Fetal Alcohol Syndrome associations above
    2. Valproate (Valproic Acid)
      1. Associated with Aortic Coarctation, Hypoplastic Left Heart Syndrome
    3. Lithium
      1. Associated with Ebstein Anomaly tricuspid valve
    4. Selective Serotonin Reuptake Inhibitors (SSRI)
      1. Associated in some studies with Ventricular Septal Defect, bicuspid aortic valve
    5. NSAIDs (e.g. Indomethacin, Ibuprofen)
      1. Premature ductus arteriosus closure (Odds Ratio 15 if third trimester exposure)
    6. Hydantoin (Phenytoin)
    7. Trimethadione
    8. Primidone
    9. Carbamazepine (Tegretol)
    10. Retinoic Acid
    11. Chemotherapy
    12. Mycophenolate mofetil (Cellcept)
    13. Warfarin (Coumadin)
    14. ACE Inhibitors

IX. Symptoms

  1. Children at any age
    1. Dyspnea (74%)
    2. Nausea or Vomiting (60%)
    3. Fatigue (56%)
    4. Cough (40%)
  2. Younger children
    1. Poor feeding
    2. Neonatal Respiratory Distress
      1. Impaired pulmonary Blood Flow or arterio-venous mixing lesions
    3. Failure to Thrive, Short Stature or Developmental Delay
      1. Consider genetic disorder
  3. Older children
    1. Exercise Induced Syncope, Near Syncope or Cyanosis
      1. Aortic Stenosis
      2. Hypertrophic Cardiomyopathy
      3. Anomalous Coronary Artery origin
    2. Decreased Exercise tolerance
    3. Palpitations
    4. Chest Pain (<6% due to cardiac source)
      1. Hypertrophic Cardiomyopathy (or other left ventricular outflow obstruction)

X. Signs

  1. See Pediatric Vital Signs
  2. Skin Color
    1. Central Cyanosis in Infants (typically out of proportion to respiratory distress, >10 min after birth)
      1. Cyanotic Congenital Heart Disease
    2. ' Cyanosis that worsens with crying suggests cardiac cause
      1. Cyanosis that improves with crying is suggests pulmonary cause
    3. Skin mottling in infants suggests aortic disorder
      1. Aortic Coarctation
      2. Severe Aortic Stenosis
    4. Pink skin in an infant with findings of CHF
      1. Left to right heart shunt (e.g. large ASD or VSD)
    5. Other skin findings of decreased perfusion
      1. Prolonged Capillary Refill Time
      2. Mottled extremities
      3. Cool distal extremities
  3. Signs of Respiratory distress
    1. Grunting
    2. Tachypnea (may also occur in cardiac lesions with acidosis)
    3. Wheezing
    4. Increased work of breathing and accessory Muscle use
  4. Difficult feeding precedes Congestive Heart Failure
    1. Term infant parameters
      1. Prolonged feeding longer than 40 minutes
      2. Less than 2 ounces per feeding
    2. Distress signs provoked by feeding
      1. Tachypnea
      2. Diaphoresis
      3. Subcostal retraction
    3. Failure to Thrive
      1. Height and Head Circumference may be normal
      2. Weight falls behind
  5. Precordial examination
    1. S3 Gallup Rhythm, cardiac thrill or heave (CHF)
    2. Cardiac Murmur
      1. See Pediatric Murmur evaluation
      2. Often the least important of the Congenital Heart Disease exam
    3. Anterior Chest wall and sternal deformities (e.g. Pectus Carinatum)
      1. Associated with Relative Risk at least double for Congenital Heart Disease
  6. Femoral and Brachial Pulse
    1. Evaluate strength, symmetric and timing (asymmetry detects Aortic Coarctation)
    2. Compare both brachial pulses for symmetry
      1. Brachial pulses absent in left sided obstruction
    3. Compare one brachial and one femoral pulse
      1. Femoral Pulses diminish with PDA closure
  7. Other Congestive Heart Failure signs
    1. Hepatomegaly
    2. Edema
  8. Oxygen Saturation in the right hand (pre-ductal)
    1. Hyperoxia testing involves delivering 100% oxygen for 10 minutes
    2. Pulmonary cause related Cyanosis
      1. Supplemental Oxygen 100% increases O2 Sat >95% or
      2. Supplemental Oxygen 100% improves O2 Sat more than 10% above baseline on room air
    3. Cyanotic Congenital Heart Disease causes
      1. Supplemental Oxygen 100% increases O2 Sat <85%
      2. Oxygen Saturation drops with Agitation
    4. Also obtain postductal Oxygen Saturation in upper and lower extremities
      1. Note significant discrepancy between upper and lower extremities (4% difference is significant)
      2. Increased discrepancy consistent with Aortic Coarctation, persistent Pulmonary Hypertension
  9. Blood Pressure in all 4 extremities
    1. Pressure gradient >10-20 mmHg between right upper and the lower pressure left leg
      1. May suggest Aortic Coarctation
  10. General Examination
    1. Concurrent Congenital defects (present in 25% of cases)

XI. Labs

  1. Basic metabolic panel (e.g. chem8)
  2. Complete Blood Count (CBC)
  3. Arterial Blood Gas
    1. Drawn from the right radial artery on room air
      1. PaO2 <60 on room air suggests CHD
    2. Consider repeat after 10 minutes on 100% oxygen
      1. PaO2 <150 after 100% oxygen for 10 minutes suggests CHD
      2. Expect PaO2 to increase 30 mmHg or more on oxygen if Cyanosis due to pulmonary cause
      3. Inadequate increase suggests cyanotic heart disease
      4. May also be performed non-invasively with Oxygen Saturation (see signs above)
  4. Labs not routinely recommended
    1. B-Type Natriuretic Peptide
    2. Troponin (non-specific, elevated in Neonatal Respiratory Distress)
  5. Infection evaluation in febrile infants
    1. See Neonatal Sepsis
    2. Blood Culture
    3. Urinalysis
    4. Consider Lumbar Puncture

XII. Imaging

  1. Chest XRay
    1. See Chest XRay in Congenital Heart Disease
    2. Findings may include Cardiomegaly and increased pulmonary vascular markings
  2. Early Echocardiogram
    1. Consider bedside Rapid Ultrasound for Shock and Hypertension (RUSH Exam)
  3. Advanced imaging
    1. Chest MRI

XIII. Diagnostics: Electrocardiogram (EKG)

  1. Normal newborn
    1. Right Axis Deviation (right ventricle dominant)
  2. General abnormalities
    1. Tachycardia
    2. Wide QRS Complex
    3. Non-Sinus Rhythm (no consistent P Waves)
    4. Prolonged QT Interval (especially if >500 ms)
  3. Left Ventricular Hypertrophy
    1. Associated with left-sided obstruction (e.g. Aortic Coarctation, Critical Aortic Stenosis)
  4. Right Ventricular Hypertrophy
    1. Associated with right-sided obstruction (e.g. tricuspid or pulmonic atresia, pulmonic stenosis, Pulmonary Hypertension)
    2. Tetralogy of Fallot may demonstrate RVH after 6 months of age
  5. Lext axis deviation (QRS positive in I and negative in II, avF)
    1. Seen in left-to-right shunt, VSD, PDA, tricuspid atresia, Aortic Coarctation
  6. Extreme Right Axis Deviation (QRS negative in I, negative in avF)
    1. Seen in severe pulmonary stenosis, transposition, tetralogy, single ventricle, Truncus Arteriosus, AV canal defect

XIV. Approach: Cardiac Presentations in infants

  1. Nonstructural causes of cardiac emergencies in infants
    1. Arrhythmias (e.g. Bradycardia, Tachycardia)
    2. Myocardial dysfunction
  2. Structural causes of cardiac emergencies in infants
    1. Volume Overload (e.g. VSD, ASD, PDA, TAPVR, Truncus, AV Canal)
    2. Pressure Overload
      1. Left-sided obstruction (e.g. Hypoplastic Left Heart, Aortic Coarctation, Aortic Stenosis or atresia)
      2. Right-sided obstruction (e.g. pulmonary or tricuspid atresia, pulmonic stenosis, Ebstein's Anomaly)

XV. Diagnosis

  1. See Congenital Heart Disease Causes
  2. Early Presentations in Newborns in first month of life (Ductal Dependent Lesions)
    1. Blue Neonate (right-sided obstructive lesion)
      1. Right to left shunt results in systemic Blood Flow (Qs) that is greater than pulmonary Blood Flow (Qp)
      2. Presents with Cyanosis (O2 Sat <65%), but normal perfusion (SBP>70 mmHg)
      3. Causes: Pulmonary or Tricuspid atresia, Tetralogy, Ebstein Anomaly, Transposition
    2. Grey Neonate (left-sided lesion)
      1. Left to right shunt results in pulmonary Blood Flow (Qp) that is greater than systemic Blood Flow (Qs)
      2. Presents in shock with poor perfusion (SBP <60 mmHg), but normal oxygenation (O2 Sat >90%)
      3. Progresses from shock with Tachycardia and vascoconstriction to Left Ventricular Failure and Pulmonary Edema
      4. Causes: Hypoplastic Left Heart, Aortic Coarctation, Aortic Stenosis or atresia
  3. Delayed Presentations in Infants (presenting after first month of life)
    1. Blue Infant (Cyanosis may be subtle)
      1. Mixing of oxygenated and deoxygenated blood AND increased pulmonary Blood Flow (Qp)
      2. Causes: TAPVR, Truncus Arteriosus
    2. Pink Infant (volume overload, Pulmonary Hypertension, CHF)
      1. Left to right shunt results in pulmonary Blood Flow (Qp) that is greater than systemic Blood Flow (Qs)
      2. Causes: ASD, VSD, PDA

XVI. Management: Initial management and stabilization

  1. Pediatric cardiology Consultation (or neonatology if at community hospital)
    1. Obtain early in presentation
  2. Supplemental Oxygen
    1. See precautions regarding hyperoxygenation risks below
    2. Unstable infants should be given initial Supplemental Oxygen regardless of underlying suspected cause
    3. Suspect CHD if clinical status worsens with Supplemental Oxygen or grey, non-cyanotic infant (see above)
      1. Reduce FIO2 to lowest setting that maintains adequate Oxygen Saturation 85-90%
      2. Lower FIO2 allows for greater pulmonary vascular resistance and greater systemic Blood Flow
  3. Intravenous Access
    1. Obtain 2 IVs if PGE-1 use is planned
    2. Umbilical Vein Catheter if unable to place other access
    3. Undifferentiated Shock or following PGE-1 in cyanotic infants may require fluid bolus trial
      1. Normal Saline 5-10 cc/kg bolus may be trialed and then recheck clinical status
  4. Cardiac monitor as well as labs and diagnostics as above
  5. Endotracheal Intubation (if needed, especially after PGE-1)
    1. RSI: Fentanyl 1 mcg/kg and Rocuronium (avoid Benzodiazepines)
    2. Consider Ketamine for sedation in Pulmonary Hypertension (decreases pulmonary vascular resistance)
    3. Consider Atropine for RSI premedication to prevent Bradycardia with intubation
    4. Preoxygenation and Apneic Oxygenation during intubation is still recommended regardless of cardiac defect
    5. Reduce FIO2 grey, non-cyanotic infant to maintain FIO2 85-90% (see above)
  6. Administer Prostaglandin E1 (PGE-1)
    1. Indicated for suspected Ductal Dependent Lesion (most cases with Cyanosis or cardiovascular collapse)
    2. Discuss with Pediatric cardiology, neonatology
    3. Indicated for infant with severe Hypoxia (especially oxygen refractory) or shock
    4. Do not administer without airway and respiratory management equipment at bedside (or intubated)
    5. PGE-1 Low Dose (lower apnea, Hypotension, Bradycardia risks)
      1. Load: 20 ng/kg/min (0.02 mg/kg/min) in 5% Dextrose
      2. Maintenance: 10 ng/kg/min and titrate to effect every 15-20 minutes
    6. PGE-1 High Dose (if patient intubated, refractory to low dose)
      1. Load: 50 ng/kg/min (0.05 mg/kg/min) in 5% Dextrose
      2. Titrated to effect every 15-20 minutes
    7. Monitor clinical status after starting dose
      1. Blood Pressure, perfusion, Capillary Refill and urinary output
      2. Cyanosis and Oxygen Saturation

XVII. Management: Ductal Dependent Lesions

  1. Distinguishing ductal dependent pulmonary versus ductal dependent systemic flow is critical to driving management
    1. Hypotension following PGE-1 is common and should be anticipated
    2. Choosing the wrong agent (i.e. pressor in coarctation) can have lethal consequences
  2. Ductal dependent pulmonary Blood Flow (cyanotic heart disease, blue baby)
    1. Presents with Cyanosis, severely decreased Oxygen Saturation (e.g. 40%) and a normal Chest XRay
    2. Prostaglandin E1 (PGE-1) maintains an open PDA
    3. Hypotension (occurs with PGE-1, requires 2 IV/IO)
      1. Phenylephrine (or Epinephrine, Norepinephrine, Dopamine)
      2. Increases systemic Afterload, shunting blood to the pulmonary circulation
      3. Consider fluid challenge of Normal Saline 5-10 cc/kg
  3. Ductal dependent systemic Blood Flow (acyanotic heart disease, gray baby)
    1. Presents with pink, non-cyanotic with shock, poor perfusion, Hypotension and Tachycardia
    2. Systolic Blood Pressure is significantly higher in arms then legs (in range of 40 mmHg difference)
    3. Chest XRay may show Congestive Heart Failure
    4. Prostaglandin E1 (PGE-1) maintains an open PDA
    5. Treatment goal is Afterload reduction
    6. Hypotension (occurs with PGE-1, requires 2 IV/IO)
      1. Milrinone (preferred)
      2. Dobutamine (second-line alternative)
      3. AVOID Vasopressors (e.g. Phenylephrine, Epinephrine, Norepinephrine)
        1. Risk of worsening an already critical Aortic Coarctation resulting in Cardiac Arrest
  4. References
    1. 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

  1. Permissive Hypoxia (85-90% Oxygen Saturation) maintains a Patent Ductus Arteriosus
    1. Allows for compensation prior to definitive management
  2. Avoid hyperoxygenating to 100% Oxygen Saturation in suspected new presentation of Congenital Heart Disease
    1. Risks closure of the ductus arteriosus during the initial evaluation and management
    2. Oxygen Saturation of 85% may be target in these patients (base target on local Consultation)

XX. Prevention: Children with Congenital Heart Disease

  1. Annual Influenza Vaccination
  2. Pneumococcal Vaccination
  3. SBE Prophylaxis

XXI. Prevention: Screening for Congenital Heart Disease in the newborn nursery

  1. Protocol suggested as part of routine well Newborn Exam
    1. Obtain preductal (right arm) and postductal (left leg) before newborn discharge home
  2. Post-ductal Oxygen Saturation is effective screening
    1. Test Sensitivity: 60%
    2. Test Specificity: 99.95%
    3. Koppel (2003) Pediatrics 111:451-5 [PubMed]

XXII. Prognosis

  1. Serious causes of CHD account for 25% of the roughly 40,000 cases in the U.S. per year
  2. Of these serious causes (~10,000 cases/year in U.S.), 25% do not survive beyond first birthday

XXIII. Complications: Post-Cardiac Repair

  1. Background
    1. Congenital Heart surgical repairs include Norwood Procedure, Glenn Procedure, Fontan Procedure, BT Shunt
    2. These repairs have allowed children to survive CHD that would otherwise be fatal
    3. However, the repairs re-route blood to mimic physiologic flow, but these hearts have unique physiology
    4. Homeostasis is an easily disrupted tight balance between Preload dependence and Cardiogenic Shock
    5. Consult Cardiology in all cardiopulmonary presentations and new medications with possible hemodynamic effects
  2. Pulmonary Hypertension
    1. Present in most patients with Congenital Heart Disease who have undergone repair
  3. Chronic Hypoxia (baseline 90-92% Oxygen Saturation)
    1. Hypoxia at baseline is often present after surgical repair
    2. Cardiac repairs often result in venous and arterial admixture by design
  4. Dysrhythmias
    1. Cardiac surgical scars increase risk
  5. Thrombosis risk
    1. Repairs often leave patients with grafts and synthetic shunts that are thrombogenic
  6. Infection
    1. Responsible for 3.4% of deaths following Congenital Heart Disease surgery
    2. Right to left shunt increases the risk of unfiltered microbes in systemic circulation (including CNS Infection)
  7. References
    1. Shoenberger and Saade in Herbert (2019) EM:Rap 19(12): 2-3
    2. McCracken (2018) J Am Heart Assoc 7(22):e010624 +PMID: 30571499 [PubMed]

XXIV. Resources

  1. CDC: Congenital Heart Disease Statistics
    1. http://www.cdc.gov/ncbddd/heartdefects/data.html

XXV. References

  1. Civitarese and Crane (2016) Crit Dec Emerg Med 30(1): 14-23
  2. Joseph and Webb (2015) Crit Dec Emerg Med 29(1): 10-8
  3. Cyran (1998) PREP review lecture, October, Phoenix
  4. Fuchs and Yamamoto (2012) APLS, Jones and Bartlett, Burlington, p. 140
  5. Saenz (1999) Am Fam Physician, 59(7):1857-66 [PubMed]
  6. Frank (2011) Am Fam Physician 84(7): 793-800 [PubMed]
  7. Ford (2022) Am Fam Physician 105(3): 250-61 [PubMed]

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