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Updated: Aug 19 2022

Ventricular Septal Defects


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  • Snapshot
    • 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.
  • Introduction
    • 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
        • the left-to-right shunt will lead to increased oxygen tension in the right ventricle
    • 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
  • Presentation
    • 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 administration
        • increased during handgrip, squatting, and leg raise
        • small defects may be louder due to higher flow across the smaller opening
  • Imaging
    • 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
  • Studies
    • Making the diagnosis
      • based on clinical presentation and echo
  • Differential
    • 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
  • Treatment
    • 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
  • Complications
    • Increased risk for subacute infective endocarditis
    • Heart failure
    • Eisenmenger syndrome
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