Congenital Heart Disease

1. See Also
   1. Pediatric Congestive Heart Failure
   2. Pediatric Murmur
   3. Congenital Heart Disease Causes
2. Epidemiology
   1. Incidence: 8 cases per 1000 live births
3. Causes
   1. See Congenital Heart Disease Causes
4. Risk Factors
   1. Maternal Diabetes Mellitus
   2. Family History of Congenital Heart Disease
      1. Maternal history: 5-10% CHD risk
      2. Sibling history: 2-3% CHD risk
   3. Indomethacin exposure
   4. Rubella exposure in first trimester (PDA)
   5. Residence at high altitude (PDA)
5. Associated Conditions
   1. Trisomy 21 (50% Incidence of Congenital Heart Disease)
      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. Hypertension
   5. Marfan Syndrome
      1. Aortic aneurysm
      2. 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. DiGeorge Syndrome
      2. Velo-cardio-facial Syndrome
6. Differential Diagnosis
   1. Neonatal Sepsis
   2. Pneumonia
   3. Inborn Errors of Metabolism
   4. Structural heart disease
   5. Myocarditis
   6. Dilated Cardiomyopathy
   7. Supraventricular Tachycardia
   8. Hypoglycemia
   9. Neurologic and Hematologic causes are much less common
7. History: Family
   1. Family History of Congenital Heart Disease
      1. Hypertrophic Cardiomyopathy
      2. Ventricular Septal Defect
      3. Mitral Valve Prolapse
      4. Sudden premature cardiac death
      5. SIDS
   2. Maternal history
      1. Diabetes Mellitus
         1. Associated with transient Hypertrophic Cardiomyopathy, tetralogy of fallot, truncus arteriosus, double outlet right ventricle
      2. Rubella
         1. Associated with peripheral pulmonary stenosis, Patent Ductus Arteriosus
   3. Maternal drug and medication uses
      1. Alcohol
         1. See Fetal Alcohol Syndrome associations above
      2. Valproate
         1. Associated with Aortic Coarctation, hypoplastic left heart
      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. Hydantoin
      6. Trimethadione
      7. Primidone
      8. Carbamezapine
      9. Retinoic Acid
      10. Antineoplastics
      11. Indomethacin
8. 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
   3. Older children
      1. Exercise induced Syncope or cyanosis
      2. Decreased Exercise tolerance
9. Signs
   1. Skin Color
      1. Central Cyanosis in Infants
         1. Cyanotic Congenital Heart Disease
      2. Skin mottling in infants suggests aortic disorder
         1. Aortic Coarctation
         2. Severe Aortic Stenosis
      3. Pink skin in an infant with findings of CHF
         1. Left to right heart shunt (e.g. large ASD or VSD)
   2. Signs of Respiratory distress
      1. Grunting
      2. Tachypnea
      3. Wheezing
   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
   4. Precordial examination
      1. S3 Gallup Rhythm
      2. Cardiac Murmur
         1. See Pediatric Murmur evaluation
         2. Often the least important of exam
   5. Femoral and Brachial Pulse
      1. Compare both brachial pulses for symmetry
      2. Compare one brachial and one femoral pulse
      3. Femoral Pulses diminish with PDA closure
      4. Brachial pulses absent in left sided obstruction
   6. Hepatomegaly
   7. Edema
   8. Concurrent Congenital defects (present in 25% of cases)
   9. Oxygen Saturation in upper and lower extremities
      1. Pulmonary cause related cyanosis
         1. Supplemental Oxygen 100% increase O2 Sat >95% or
         2. Supplemental Oxygen 100% improves O2 Sat more than 10% above baseline on room air
      2. Cyanotic Congenital Heart Disease causes
         1. Supplemental Oxygen 100% increases O2 Sat <85%
         2. Oxygen Saturation drops with agitation
   10. Blood Pressure in all 4 extremities
       1. Pressure gradient >20 mmHg between upper and lower limbs (may suggest Aortic Coarctation)
          1. Lower Blood Pressure in the lower extremities
   11. Failure to Thrive
       1. Height and Head Circumference may be normal
       2. Weight falls behind
10. Screening
    1. Protocol suggested as part of routine well Newborn Exam
    2. Post-ductal Oxygen Saturation is effective screening
       1. Test Sensitivity: 60%
       2. Test Specificity: 99.95%
       3. Koppel (2003) Pediatrics 111:451-5
11. Imaging
    1. Chest XRay
       1. See Chest XRay in Congenital Heart Disease
       2. Findings may include Cardiomegaly and increased pulmonary vascular markings
    2. Advanced imaging
       1. Echocardiogram
       2. Chest MRI
12. Labs
    1. Arterial Blood Gas
13. Management: Acute stabilization
    1. General
       1. Supplemental Oxygen (see precautions below)
       2. IV Access
       3. Cardiac monitor
       4. Chest XRay
       5. Electrocardiogram
       6. Echocardiogram
       7. Basic chemistry panel (e.g. chem8) and Complete Blood Count
       8. Pediatric cardiology consultation
    2. Cyanotic heart disease
       1. In addition to general measures above
       2. Fluid challenge: NS 10 ml/kg
       3. Consider Prostaglandin E1 to keep ductus patent
       4. Dobutamine as needed to support Blood Pressure
    3. Congestive Heart Failure
       1. In addition to general measures above
       2. Elevate head of bed 45 degrees
       3. Furosemide (Lasix)
       4. Nitroglycerin
       5. Digoxin
       6. Inotrope to maintain Blood Pressure (e.g. Dopamine, Dobutamine, Epinephrine)
14. Precautions: Acute presentation of Congenital Heart Disease
    1. Hypoxia 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)
15. Prevention: Children with Congenital Heart Disease
    1. Annual Influenza vaccination
    2. Pneumococcal vaccination
    3. SBE Prophylaxis
16. Resources
    1. Mayo Adult Congenital Heart Disease Clinic
       1. http://www.mayo.edu/cv/wwwpg_cv/congenit/chc-hp.htm
17. References
    1. Cyran (1998) PREP review lecture, October, Phoenix
    2. Fuchs and Yamamoto (2012) APLS, Jones and Bartlett, Burlington, p. 140
    3. Saenz (1999) Am Fam Physician, 59(7):1857-66
    4. Frank (2011) Am Fam Physician 84(7): 793-800