Congenital Heart Disease

Aka: Congenital Heart Disease, Congenital Heart Defect, Critical Congenital Heart Disease, CCHD Toolkit

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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
  3. Congenital Heart Defects are the leading congenital cause of death in infants

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

  1. See Neonatal Distress Causes
  2. Neonatal Sepsis
  3. Pneumonia
  4. Inborn Errors of Metabolism
  5. Structural heart disease
  6. Myocarditis
  7. Dilated Cardiomyopathy
  8. Supraventricular Tachycardia
  9. Hypoglycemia
  10. Neurologic and Hematologic causes are much less common

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: Skin Color

  1. Skin Color categorizes CHD patients into Blue (Cyanosis), Gray (poor perfusion) or Pink (CHF)
  2. Central Cyanosis in Infants (typically out of proportion to respiratory distress, >10 min after birth)
    1. Differentiating Cyanosis from Congenital Heart Disease (versus pulmonary causes)
      1. See Oxygen Saturation below
      2. Cyanosis that worsens with crying suggests cardiac cause
      3. Cyanosis that improves with crying is suggests pulmonary cause
    2. Mixing right to left shunt (Cyanosis with Heart Failure presents at 1 to 6 months)
      1. Total Anomalous Pulmonary Venous Return
      2. Truncus Arteriosus
    3. Right sided obstructive lesions (ductal-dependent, presenting in first 2 weeks)
      1. Tricuspid valve atresia
      2. Pulmonary atresia
      3. Pulmonary stenosis
      4. Ebstein Anomaly
      5. Transposition of the Great Vessels (if no associated VSD)
      6. Tetralogy of Fallot (if associated with critical pulmonary stenosis)
  3. Skin mottling or gray, ashen skin in infants suggests aortic disorder related poor perfusion
    1. Most common initially missed CHD causes
    2. Aortic Coarctation
    3. Severe Aortic Stenosis
    4. Hypoplastic Left Heart
    5. Interrupted aortic arch
  4. Pink skin in an infant with findings of Congestive Heart Failure
    1. Often delayed presentation at 1 to 6 months
    2. Mixing 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

XI. Signs: Vital Signs

  1. See Pediatric Vital Signs
  2. Blood Pressure
    1. Evaluate for ductal dependent left-sided obstruction
    2. Obtain in right arm (preductal) and one leg (postductal)
    3. Pressure gradient >10 mmHg between right arm and one leg in Aortic Coarctation, interrupted arch
  3. Oxygen Saturation
    1. Hyperoxia testing involves delivering 100% oxygen for 10 minutes
      1. Oxygen Saturation fails to significantly improve with Supplemental Oxygen in cyanotic CHD
        1. Oxygen Saturation improves to 100% without clinical worsening in pulmonary disease
      2. Standard test uses Arterial Blood Gas (ABG) obtained before and after 100% Supplemental Oxygen
    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. Oxygen Saturation is typically <90%
      2. Supplemental Oxygen 100% increases O2 Sat <85%
      3. Oxygen Saturation drops with Agitation
    4. Obtain preductal (right arm) Oxygen Saturation and postductal Oxygen Saturation in one leg
      1. Evaluate for ductal dependent right-sided obstruction
      2. Note significant discrepancy between upper and lower extremities (4% difference is significant)
      3. O2 Sat <90% (or <94% in legs), or a difference >4% is consistent with right-sided obstruction

XII. Signs: General

  1. General Examination
    1. Concurrent Congenital defects (present in 25% of cases)
  2. 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
  3. 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
  4. 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
  5. 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
  6. Other Congestive Heart Failure signs
    1. Hepatomegaly
    2. Edema

XIII. 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

XIV. 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 (tertiary centers)
    1. Chest MRI

XV. 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

XVI. Evaluation: Toolkit for Critical Congenital Heart Disease (CCHD Toolkit)

  1. Hyperoxia Test (for Cyanotic Congenital Heart Disease)
    1. Does Oxygen Saturation increase to 100% while on Supplemental Oxygen at 100% FIO2
  2. Preductal and Postductal Blood Pressure and Oxygen Saturation (for ductal dependent CHD)
    1. Is there a ductal dependent left-sided obstruction?
      1. Obtain Blood Pressure in right arm (preductal) and one leg (postductal)
      2. Pressure gradient >10 mmHg between right arm and one leg in Aortic Coarctation, interrupted arch
    2. Is there a ductal dependent right-sided obstruction?
      1. Obtain preductal (right arm) Oxygen Saturation and postductal Oxygen Saturation in one leg
      2. O2 Sat <90% (or <94% in legs), or a difference >4% is consistent with right-sided obstruction
  3. Physical exam (for signs of CHF)
    1. Capillary Refill
    2. Heart Murmur
    3. Brachiofemoral Delay
    4. Hepatomegaly
  4. Electrocardiogram (EKG)
    1. Evaluate for structural heart disease clues (see EKG above)
  5. Chest XRay
    1. CHF findings (cardiomegaly, Pulmonary Edema)
    2. Primary lung disease
    3. Pulmonary under-circulation
  6. Bedside Ultrasound
    1. CHF findings (contractility, IVC Ultrasound for Volume Status, lung B-Line Artifacts)
  7. References
    1. Strobel (2015) Emerg Med Clin North Am 33(3):501-18+PMID: 26226862 [PubMed]

XVII. Diagnosis

  1. See Congenital Heart Disease Causes
  2. 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)
  3. 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. Gray 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
  4. 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

XVIII. 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
      1. Blue (Cyanotic) or gray (decreased perfusion) infants are most likely to benefit from oxygen
      2. Target an Oxygen Saturation >75 to 85% in cyanotic heart disease (or baseline O2 Sat in diagnosed CHD)
      3. Pink infants (CHF) are more likely to worsen with Supplemental Oxygen
        1. Avoid Supplemental Oxygen in pink infants with Oxygen Saturation >85 to 90%
    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
  4. Hypotension
    1. 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
    2. Consider Vasopressors in fluid-refractory patients (or when IV fluids are contraindicated)
      1. Epinephrine is preferred first-line in Cardiogenic Shock
      2. Observe for worsening left to right shunt with Vasopressors (due to increased SVR)
  5. Cardiac monitor as well as labs and diagnostics as above
  6. 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)

XIX. Management: Ductal Dependent Lesions

  1. Background
    1. Ductus arteriosus connects the pulmonary artery to the aorta, by-passing the lungs in utero
    2. Without PGE-1 administration, ductus arteriosus closes within first 24 to 72 hours after birth
      1. Avoid delaying PGE-1 when indicated (life saving with early use)
  2. 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. Be prepared for apnea and Hypotension
      1. Do not administer without airway and respiratory management equipment at bedside (or intubated)
      2. Noninvasive Positive Pressure Ventilation and intravenous Caffeine may be trialed for mild hypoventilation
      3. Have reliable Intravenous Access and Vasopressors readily available
    5. PGE-1 Low Dose (lower apnea, Hypotension, Bradycardia risks)
      1. Load: 0.02 mcg/kg/min (in 5% Dextrose)
      2. Maintenance: 0.01 mcg/kg/min
      3. Titrate to effect every 15-20 minutes
    6. PGE-1 High Dose (if patient intubated, refractory to low dose)
      1. Load: 0.05 mcg/kg/min (in 5% Dextrose)
      2. Titrated to effect every 15-20 minutes
      3. Typical target range 0.1 to 0.2 mcg/kg/min (with direction from neonatology)
      4. May decrease to 0.025 to 0.05 mcg/kg/min after clinical improvement
    7. Monitor clinical status after starting dose
      1. Blood Pressure, perfusion, Capillary Refill and urinary output
      2. Cyanosis
      3. Base Deficit
      4. Oxygen Saturation
        1. Oxygen Saturation may only improve to 75 to 85% (acceptable if Lactic Acid <2 mmol/L)
      5. Discrepancy between preductal and postductal Blood Pressure and oximetry differences
        1. Blood Pressure discrepancy will persist despite PGE-1 in Aortic Coarctation
  3. 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
  4. Ductal dependent, right-sided, obstructed 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. Causes (ductus required for pulmonary Blood Flow)
      1. Tricuspid atresia
      2. Pulmonary atresia (with intact ventricular septum)
      3. Tetralogy of Fallot (if associated with critical pulmonary stenosis)
      4. Pulmonary stenosis
      5. Ebstein's Anomaly
      6. Transposition of the Great Vessels
    3. Prostaglandin E1 (PGE-1) maintains an open PDA
    4. 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
  5. Ductal dependent, left-sided, obstructed systemic Blood Flow (acyanotic heart disease, gray baby)
    1. Presents with pink, non-cyanotic with shock, poor perfusion, Hypotension and Tachycardia
    2. Causes (ductus required for systemic Blood Flow)
      1. Hypoplastic Left Heart
      2. Critical Aortic Stenosis
      3. Aortic Coarctation
      4. Aortic atresia
    3. Systolic Blood Pressure is significantly higher in arms then legs (in range of 40 mmHg difference)
    4. Chest XRay may show Congestive Heart Failure
    5. Prostaglandin E1 (PGE-1) maintains an open PDA
    6. Treatment goal is Afterload reduction
    7. 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
  6. References
    1. Sloas, Checchia and Orman in Majoewsky (2013) EM: Rap 13(9): 8

XX. Management: Congestive Heart Failure

  1. See Pediatric Congestive Heart Failure

XXI. 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)

XXII. Prevention: Children with Congenital Heart Disease

  1. Annual Influenza Vaccination
  2. Pneumococcal Vaccination
  3. SBE Prophylaxis
  4. Manage acute and chronic comorbid conditions
    1. Decrease fever and pain
      1. Acetaminophen
      2. Ibuprofen (avoid in Anticoagulation)
    2. Vomiting
      1. Ondansetron is safe in normal QTc
    3. Croup, Asthma and Reactive Airway Disease
      1. Be alert for cardiac Wheezing
      2. Use beta Agonists as needed (but be alert for tachyarrhythmias)
    4. Procedures
      1. See Childlife Specialist Measures to Calm Children
      2. Limit non-emergent Procedural Sedation to controlled environments (e.g. OR, tertiary center)

XXIII. 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]

XXIV. 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

XXV. 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
    2. Atrial Arrhythmias are most common
      1. However, most CHD patients have a wide QRS Complex (more difficult to exclude ventricular Arrhythmia)
      2. Compare current EKG to prior resting EKGs
      3. Atrial Septal Defects (ASD) are associated with Arrhythmias in up to 50% of cases (decreased with closure)
      4. AV Septal defects are associated with Bradyarrhythmias and Heart Blocks
    3. Ventricular Arrhythmia risks
      1. Tetralogy of Fallot is associated with Ventricular Tachycardia (15%) and Ventricular Fibrillation (0.5%)
      2. Transposition of the Great Vessels
    4. Heart Blocks
      1. AV Septal defects are associated with Heart Blocks
      2. Transvenous pacing may fail to capture after Fontan Procedure
      3. Consult cardiology at congenital cardiac center
  5. Thrombosis risk
    1. Repairs often leave patients with grafts and synthetic shunts that are thrombogenic
    2. Many repairs require longterm Aspirin or Anticoagulation
      1. Non-compliance increases risk
    3. Interstage shunt thrombosis is associated with high mortality
      1. See Single Ventricle Defect Management
    4. Suspected Thrombosis
      1. Consult Congenital Cardiology
      2. Initiate Unfractionated Heparin (weight-based)
      3. Advanced life support measures may be required (e.g. ECMO)
  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. Volume Status
    1. Shunt thrombosis risk increases in Dehydration
    2. Maintain fluid balance without Hypovolemia or hypervolemia
    3. Use IVC Ultrasound for Volume Status, weights, vitals signs and Capillary Refill to assess volume status
  8. 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]

XXVI. Resources

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

XXVII. 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. Strobel and Sanders (2024) Crit Dec Emerg Med 38(8): 25-35
  6. Saenz (1999) Am Fam Physician, 59(7):1857-66 [PubMed]
  7. Frank (2011) Am Fam Physician 84(7): 793-800 [PubMed]
  8. Ford (2022) Am Fam Physician 105(3): 250-61 [PubMed]

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Ontology: Congenital Heart Defects (C0018798)

Definition (CHV) Imperfections or malformations of the heart, existing at birth
Definition (CHV) Imperfections or malformations of the heart, existing at birth
Definition (CHV) Imperfections or malformations of the heart, existing at birth
Definition (CHV) Imperfections or malformations of the heart, existing at birth
Definition (CHV) Imperfections or malformations of the heart, existing at birth
Definition (CHV) Imperfections or malformations of the heart, existing at birth
Definition (CHV) Imperfections or malformations of the heart, existing at birth
Definition (CHV) Imperfections or malformations of the heart, existing at birth
Definition (CHV) Imperfections or malformations of the heart, existing at birth
Definition (CHV) Imperfections or malformations of the heart, existing at birth
Definition (CHV) Imperfections or malformations of the heart, existing at birth
Definition (CHV) Imperfections or malformations of the heart, existing at birth
Definition (CHV) Imperfections or malformations of the heart, existing at birth
Definition (CHV) Imperfections or malformations of the heart, existing at birth
Definition (CHV) Imperfections or malformations of the heart, existing at birth
Definition (CHV) Imperfections or malformations of the heart, existing at birth
Definition (CHV) Imperfections or malformations of the heart, existing at birth
Definition (CHV) Imperfections or malformations of the heart, existing at birth
Definition (CHV) Imperfections or malformations of the heart, existing at birth
Definition (CHV) Imperfections or malformations of the heart, existing at birth
Definition (MEDLINEPLUS)

A congenital heart defect is a problem with the structure of the heart. It is present at birth. Congenital heart defects are the most common type of birth defect. The defects can involve the walls of the heart, the valves of the heart, and the arteries and veins near the heart. They can disrupt the normal flow of blood through the heart. The blood flow can slow down, go in the wrong direction or to the wrong place, or be blocked completely.

Doctors use a physical exam and special heart tests to diagnose congenital heart defects. They often find severe defects during pregnancy or soon after birth. Signs and symptoms of severe defects in newborns include

  • Rapid breathing
  • Cyanosis - a bluish tint to the skin, lips, and fingernails
  • Fatigue
  • Poor blood circulation

Many congenital heart defects cause few or no signs and symptoms. They are often not diagnosed until children are older.

Many children with congenital heart defects don't need treatment, but others do. Treatment can include medicines, catheter procedures, surgery, and heart transplants. The treatment depends on the type of the defect, how it is, and a child's age, size, and general health.

NIH: National Heart, Lung, and Blood Institute
Definition (MSHCZE) Vrozené vývojové vady postihující srdce (patří k nejčastějším VVV). Kombinace různých anatomických anomálií jednotlivých struktur a přilehlých cév. Vady se dělí podle morfologického defektu nebo funkčně. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (MSH) Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.
Concepts Congenital Abnormality (T019)
MSH D006330
ICD9 746.9
ICD10 Q24.9
SnomedCT 156911006, 268318000, 204413006, 204405005, 268315002, 156926008, 13213009
English Abnormalities, Heart, Abnormality, Heart, Congenital Heart Defect, Defect, Congenital Heart, Defects, Congenital Heart, Heart Abnormalities, Heart Abnormality, Heart Defect, Congenital, Heart Defects, Congenital, HEART MALFORMATION, Unspecified congenital anomaly of heart, Congenital heart anomaly NOS, Congenital malformation of heart, unspecified, HEART, MALFORMATION OF, Congenital heart defect, Congenital heart defects, HEART DEFECT CONGEN, DEFECTS CONGEN HEART, HEART DEFECTS CONGEN, ABNORM HEART, CONGEN HEART DEFECTS, HEART ABNORM, CONGEN HEART DEFECT, heart defect, congenital heart defect, congenital heart anomaly, congenital heart defect (diagnosis), Anomaly cardiac, Anomaly heart, Heart malformation, Malformation heart (NOS), Congenital cardiac anomalies, Cong heart anomaly NOS, Heart malformations, Heart Defects, Congenital [Disease/Finding], anomaly heart, cardiac abnormality, cardiac anomaly, congenital defects heart, congenital defects hearts, heart malformations, Congenital anomaly;heart, abnormalities cardiac, anomalies cardiac, congenital heart defects, heart anomaly, abnormalities heart, congenital cardiac defect, cardiac congenital defects, anomalies heart, congenital defect heart, heart abnormalities, abnormality cardiac, heart abnormality, heart malformation, Cardiac anomalies, Cardiac abnormalities, Heart, Malformation Of, Heart Defects, Heart-congenital defect, Congenital heart anomaly NOS (disorder), Heart--Abnormalities, Congenital anomaly of heart, cardiac; anomaly, deformity; heart, heart; anomaly, heart; deformity, anomaly; cardiac, anomaly; heart, congenital, anomaly; heart, Congenital anomaly of heart, NOS, Heart Malformation, Congenital anomaly of heart NOS, Congenital Heart Defects, congenital anomaly of the heart
Dutch hartanomalie, hartmisvorming (NAO), niet-gespecificeerde congenitale hartanomalie, hartmisvoming, anomalie; , hart, congenitaal, anomalie; cardiaal, anomalie; hart, cardiaal; anomalie, hart; anomalie, hart; misvorming, misvorming; hart, Congenitale misvorming van hart, niet gespecificeerd, Congenitaal hartdefect, Congenitale misvorming van het hart, Defect, congenitaal hart-, Defecten, congenitale hart-, Hartafwijking, Hartdefect, congenitaal, Hartdefecten, congenitale
French Anomalie cardiaque, Anomalie du coeur, Malformation cardiaque SAI, Anomalie congénitale non précisée du coeur, Anomalie cardiaque congénitale, Anomalies cardiaques congénitales, Malformation cardiaque, Malformations cardiaques, MALFORMATION CARDIAQUE, Cardiopathies congénitales, Cardiopathie congénitale, Anomalie congénitale du coeur, Anomalies congénitales du coeur
German Anomalie, Herz, unspezifische kongenitale Anomalie des Herzens, Herzmissbildung, Missbildung des Herzens NNB, Angeborene Fehlbildung des Herzens, nicht naeher bezeichnet, HERZMISSBILDUNG, Herzfehlbildungen, Herzfehler, kongenitale, Vitium cordis congenitum, Herzfehler, angeborene
Italian Malformazione cardiaca, Anomalia del cuore non specificata, Malformazione cardiaca (NAS), Anomalia cardiaca, Anomalie cardiache, Difetto cardiaco congenito, Difetti cardiaci congeniti
Portuguese Anomalia cardíaca, Anomalia congénita NE do coração, Anomalia do coração, Malformação cardíaca, Malformação cardíaca NE, MALFORMACAO CARDIACA, Defeitos Cardiovasculares Congênitos, Malformação Cardiovascular, Anormalidades Cardíacas, Cardiopatias Congênitas
Spanish Malformación cardiaca, Malformación de corazón (NEOM), Anomalía del corazón, Anomalía cardiaca, Anomalía congénita no especificada del corazón, MALFORMACION CARDIACA, anomalía cardíaca congénita, SAI (trastorno), anomalía cardíaca congénita, SAI, Congenital heart anomaly NOS, Defecto Congénito Cardiovascular, Anomalías Cardíacas Congénitas, anomalía cardíaca congénita, Anomalías Cardíacas, Cardiopatías Congénitas
Japanese 心臓奇形（ＮＯＳ）, 詳細不明の心臓の先天異常, ｼﾝｿﾞｳｷｹｲNOS, ｼｮｳｻｲﾌﾒｲﾉｼﾝｿﾞｳﾉｾﾝﾃﾝｲｼﾞｮｳ, ｼﾝｷｹｲ, 先天性心臓疾患, 先天性心欠損, 心臓奇形, 先天性心疾患, 先天性心臓奇形, 心臓欠損症-先天性, 心臓転位症, 先天性心臓欠損, 心臓奇形-先天性, 先天性心臓欠損症, 先天性心欠損症, 心臓疾患-先天性, 心奇形
Swedish Hjärtfel, medfödda
Czech srdce - vady vrozené, Srdeční malformace, Blíže neurčená vrozená anomálie srdce, Anomálie srdeční, Malformace srdce (NOS), Srdeční anomálie, abnormality srdce, kongenitální srdeční vady, vrozené srdeční vady, srdce - defekty kongenitální, srdeční abnormality, vrozené vady srdce
Finnish Synnynnäiset sydänviat
Russian EKTOPIIA SERDTSA, SERDTSA ANOMALII, POROKI SERDTSA VROZHDENNYE, SERDTSA POROKI VROZHDENNYE, ПОРОКИ СЕРДЦА ВРОЖДЕННЫЕ, СЕРДЦА АНОМАЛИИ, СЕРДЦА ПОРОКИ ВРОЖДЕННЫЕ, ЭКТОПИЯ СЕРДЦА
Korean 상세불명의 심장의 선천 기형
Croatian SRČANE MANE, PRIROĐENE
Polish Wady serca wrodzone
Hungarian Szív anomalia, Szívanomalia, Szívmalformatio, Szívmalformatio (k.m.n.), Szív veleszületett nem meghatározott anomaliája
Norwegian Medfødte hjertefeil, Hjertefeil, medfødte, Medfødte misdannelser i hjertet, Vitium cordis congenitum
Derived from the NIH UMLS (Unified Medical Language System)

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