Congenital Heart Disease

1. See Also
   1. Pediatric Congestive Heart Failure
   2. Pediatric Murmur
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 (cyanosis)
   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%
      2. Cyanotic Congenital Heart Disease causes
         1. Supplemental Oxygen 100% increases O2 Sat <85%
   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. Cardiomegaly
       2. Increased pulmonary vascular markings
    2. Advanced imaging
       1. Echocardiogram
       2. Chest MRI
12. Labs
    1. Arterial Blood Gas
13. Prevention
    1. Annual Influenza vaccination
    2. Pneumococcal vaccination
    3. SBE Prophylaxis
14. Resources
    1. See Congenital Heart Disease Resources
15. References
    1. Saenz (1999) Am Fam Physician, 59(7):1857-66
    2. Cyran (1998) PREP review lecture, October, Phoenix
    3. Frank (2011) Am Fam Physician 84(7): 793-800