• A 15-year-old boy presents to his cardiologist’s office for weeks of dyspnea on exertion, syncopal episodes, and hemoptysis. He has a past medical history significant for a rather large ventricular septal defect. Concerned for Eisenmenger syndrome, his cardiologist sends him for an echocardiogram and preparations are made for surgical intervention.
  • Clinical definition
    • a congenital defect resulting in an opening in the interventricular septum of the heart
  • Epidemiology
    • demographics
      • most common congenital cardiac defect
      • present at birth
    • risk factors
      • family history
  • Pathogenesis
    • VSD causes a left-to-right shunting in the heart, causing increased pulmonary blood flow and alterations in pulmonary vasculature
      • over time, with severe defects, this eventually results in pulmonary hypertension and eventual Eisenmenger syndrome
  • Associated conditions
    • Down syndrome
    • DiGeorge syndrome
    • Turner syndrome
  • Prognosis
    • most remain asymptomatic or self-resolve
    • larger defects can lead to left heart overload and heart failure
  • Symptoms
    • neonates may be asymptomatic at birth but may develop symptoms over weeks
      • shortness of breath
      • excessive fatigue
      • difficulty breathing or sweating during feeding
      • failure to thrive
    • patients may also remain asymptomatic
  • Physical exam
    • high-pitched and harsh holosystolic murmur
      • best heard at the lower left sternal border
      • decreased during Valsalva and amyl nitrate
      • increased during handgrip, squatting, and leg raise
      • small defects may be louder due to higher flow across the smaller opening
  • Radiography
    • indication
      • often an initial test to rule out other pathologies
    • views
      • chest
    • findings
      • cardiomegaly
      • increased vascular markings
  • Echocardiography
    • indications
      • diagnostic test
      • most specific test
    • findings 
      • VSD
  • Making the diagnosis
    • based on clinical presentation and echo
  • Atrial septal defect
    • distinguishing factor
      • if symptomatic, mumur will be a wide and fixed split S2
  • Patent ductus arteriosus
    • distinguishing factor
      • murmur typically is a continuous machine-like murmur and disappears after 1-2 days after birth
  • Management approach
    • prophylaxis for infective endocarditis is not necessary
    • mild defects can be left untreated
    • medical management is aimed at complications of VSD
  • Medical
    • palivizumab
      • indication
        • in infants with symptomatic VSD
        • for passive immunization against respiratory syncytial virus (RSV)
    • diuretics
      • indication
        • if patients have heart failure
    • pulmonary vasodilators
      • indication
        • if patients present with Eisenmenger syndrome
  • Operative
    • surgical closure of VSD
      • indications
        • symptomatic patients with large defects or heart failure
        • patients with pulmonary hypertension
        • patients with significant aortic insufficiency
  • Increased risk for subacute infective endocarditis
  • Heart failure
  • Eisenmenger syndrome

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