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Updated: Dec 4 2021

Other Cyanotic Congenital Heart Defects

  • Snapshot
    • A newborn boy is born to a 25-year-old mother and noted immediately to be cyanotic. She had no prenatal care during her pregnancy. She has a past medical history of bipolar disorder and takes lithium inconsistently. However, she believes that she did take it during the pregnancy. On physical exam, the newborn has a holosystolic murmur. An echocardiogram reveals atrialization of the right ventricle and downward displacement of the tricuspid valve, as well as tricuspid regurgitation. (Ebstein anomaly)
  • 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
    • Other Cyanotic Congenital Heart Defects
      Heart Disease
      Clinical Presentation
      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
      • Electrocardiogram
        • tall P-waves
        • left axis deviation
      • Treatment
        • prostaglandin E1
        • corrective surgery
      Total anomalous pulmonary venous return (TAPVR)
      • Pulmonary veins drain into right heart circulation
      • ASD orPDA allows for right-to-left shunting to maintain cardiac output
      • Pulmonary hypertension
      • Cyanosis depends on 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 te 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 withlithium exposure in utero
            • Treatment
              • prostaglandin E1
              • corrective surgery
        • Presentation
          • Early cyanosis, resulting in “blue babies” soon after birth
            • depending on severity and type of the defect, cyanosis may not be apparently 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
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