Cardiovascular Medicine Book

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Congenital Heart Disease

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  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 congenital disorders
    1. Trisomy 21 (50% Incidence of Congenital heart disease)
      1. Ventricular Septal Defect
      2. AV canal defect
      3. Patent Ductus Arteriosus
    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's Syndrome
      1. Aortic aneurysm
      2. Mitral Valve Prolapse
    6. Noonan Syndrome
      1. Pulmonic stenosis
      2. Aortic Coarctation
  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
    1. Family History of congenital heart disease
    2. Maternal history
      1. Diabetes Mellitus
      2. Rubella
    3. Maternal drug and medication uses
      1. Alcohol
      2. Hydantoin
      3. Valproate
      4. Trimethadione,
      5. Primidone
      6. Carbamezapine
      7. Lithium
      8. Retinoic Acid
      9. Antineoplastics
      10. Indomethacin
    4. Older children
      1. Exercise induced Syncope or cyanosis
  8. Signs
    1. Skin Color (cyanosis)
    2. Signs of Respiratory distress
      1. Grunting
      2. Tachypnea
    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. Concurrent Congenital defects
    8. 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%
    9. Blood Pressure in all 4 extremities
    10. Failure to Thrive
      1. Height and Head Circumference may be normal
      2. Weight falls behind
  9. 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
  10. Radiology
    1. Chest XRay
      1. Cardiomegaly
      2. Increased pulmonary vascular markings
    2. Echocardiogram
    3. Chest MRI
  11. Labs
    1. Arterial Blood Gas
  12. Prevention
    1. Annual Influenza vaccination
    2. Pneumococcal vaccination
    3. SBE Prophylaxis
  13. Resources
    1. See Congenital Heart Disease Resources
  14. References
    1. Saenz (1999) Am Fam Physician 59(7):1857
    2. Cyran (1998) PREP review lecture, October, Phoenix

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