What's the Diagnosis? By Dr. Katherine Selman

An 18-month-old male presents with his parents who have noticed that he has shortness of breath whenever he tries to walk.  They report that it seems to resolve with rest.  They add that he has been slower to walk than his siblings and will only take a few steps before he has difficulty breathing.  In addition, he has "turned blue," in the past when crying.  On exam, he is small for his age and in no distress.  He has a loud systolic murmur and his oxygen saturation is 89% on room air.  A chest x-ray is shown.  What's the diagnosis?  -






Answer:  Tetralogy of Fallot

  • Cyanotic congenital heart disease
  • Four defining abnormalities
  1. VSD
  2. RV hypertrophy
  3. Overiding aorta
  4. Pulmonic stenosis or atresia -> degree of right ventricular outflow obstruction determines the severity of disease
  • Most frequently diagnosed in infancy but is also most common cyanotic heart disease to persist uncorrected past infancy
  • Symptoms include dyspnea or cyanosis with feeding, poor growth, clubbing
  • "Boot-shaped" heart on x-ray
  • ECG with rightward axis and signs of RV hypertrophy
  • Tet spells are cyanotic episodes that occur due to increased right-to-left shunting
    • Fever, dehydration, noxious stimuli, crying, bearing down -> increase in pulmonary vascular resistance or decrease in systemic vascular resistance -> more deoxygenated blood shunting from RV to LV through VSD -> cyanosis
    • Improved by knees to chest maneuver (increases preload and systemic vascular resistance which increases blood flow to the lungs
    • Provide supplemental oxygen and keep child calm
  • Requires close cardiology follow-up







    Yue EL, Meckler GD. Congenital and Acquired Pediatric Heart Disease. In: Tintinalli JE, Stapczynski J, Ma O, Yealy DM, Meckler GD, Cline DM. eds.Tintinalli’s Emergency Medicine: A Comprehensive Study Guide, 8eNew York, NY: McGraw-Hill; 2016. http://accessemergencymedicine.mhmedical.com.ezproxy.rowan.edu/content.a....