Updated: 5/1/2018

Other Cyanotic Congenital Heart Defects

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Snapshot
  • A newborn girl is born to a 30-year-old mother without complications. On the second day of life, the infant is noted to be mildly cyanotic with an oxygen saturation of 92%. The next day, she is more lethargic than usual with poor feeding. On physical exam, she has increased tachypnea, sternal retractions, and nasal flaring. Cardiac exam reveals that she is tachycardic and has a single and loud 2nd heart sound with a systolic ejection click. She also has a high-pitched diastolic murmur. A chest radiograph shows cardiomegaly and increased pulmonary vasculature. An echocardiogram confirms the diagnosis. (Persistent truncus arteriosus).
Introduction
  • Cyanotic heart diseases
    • 5 T’s
      • Truncus arteriosus (1 vessel)
      • Transposition of the great vessels (2 vessels are switched)
      • Tricuspid atresia (3 = tri)
      • Tetralogy of Fallot (4 = tetra)
      • Total anomalous pulmonary venous return (TAPVR = 5 letters)
    • Ebstein anomaly
    • may require atrial septal defect (ASD), ventricular septal defect (VSD), or patent ductus arteriosus (PDA) to survive
  • Clinical presentation
    • early cyanosis, resulting in “blue babies” soon after birth
      • depending on severity and type of the defect, cyanosis may not be apparent immediately after birth
    • symptoms of congenital heart disease
      • tachypnea
      • feeding difficulties
      • failure to thrive
      • cyanosis
    • heart failure
  • Imaging
    • chest radiography
      • findings vary based on lesion (see chart below)
    • echocardiogram
      • gold standard for diagnosis
 
 
Other Cyanotic Congenital Heart Defects
Heart Disease
Pathogenesis
Clinical Presentation
Diagnosis Notes
Truncus arteriosus
  • Single large vessel arising from the heart and supplying the body with mixed blood (oxygenated and deoxygenated blood)
    • secondary to failure of the aorticopulmonary septum to form
  • Systolic ejection murmur with thrill
  • Single S2 heart sound
  • High-pithced diastolic murmur
  • Initially only minimal cyanosis
  • Chest radiograph
    • cardiomegaly
    • ↑ pulmonary vasculature
  • Associated with DiGeorge syndrome
  • Treatment
    • corrective surgery
Tricuspid atresia
  • No tricuspid valve
  • Hypoplastic right ventricle
  • Requires patent foramen ovale, ASD, or VSD
  • Severe cyanosis at birth
  • Increased left ventricular impulse
  • Holosystolic murmur
  • Chest radiograph
    • ↓ pulmonary vasculature
  • Treatment
    • prostaglandin E1
    • corrective surgery
Total anomalous pulmonary venous return (TAPVR)
  • Pulmonary veins drain into right heart circulation
  • ASD or PDA allows for right-to-left shunting to maintain cardiac output
  • Pulmonary hypertension
  • Cyanosis depends on the severity of obstruction
  • Chest radiograph
    • cardiomegaly
    • cardiac shadow has "snowman" appearance
    • ↑ pulmonary vasculature
  • Treatment
    • prostaglandin E1
    • emergent corrective surgery in severe cases
Ebstein anomaly
  • Characterized by a downardly displaced tricuspid valve, resulting in an enlarged right atrium
  • Increased right atrial pressure shunts blood to the left heart via the foramen ovale or ASD, leading to cyanosis
  • Tricuspid regurgitation
  • May present with cyanosis in newborns or present later in life
  • Holosystolic murmur
  • Right heart failure
  • Chest radiograph
    • cardiomegaly
    • ↓ pulmonary vasculature
  • Associated with lithium exposure in utero
  • Treatment
    • prostaglandin E1
    • corrective surgery
 
 

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