Updated: 12/4/2021

Atrial Septal Defect (ASD)

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  • Snapshot
    • A 40-year-old man presents to his physician’s office for a routine physical. In the past few years, he has neglected to attend these appointments. He reports having no complaints, except for some shortness of breath with exertion. Physical exam reveals a new murmur, characterized by a wide and fixed split S2 heart sound, especially during inspiration. An echocardiogram reveals an atrial septal defect.
  • Introduction
    • Clinical definition
      • a congenital defect resulting in an opening in the interatrial septum of the heart
  • Etiology
    • Ostium secundum defect (most common)
      • secundum ASD is often an isolated congenital defect
    • Ostium primum defect
      • primum ASD is often associated with other cardiac defects
    • Pathogenesis
      • septa results from missing tissue, rather than unfused tissue
      • left-to-right shunting in the heart, causing increased pulmonary blood flow and alterations in the pulmonary vasculature
        • over time, with severe defects, this eventually results in pulmonary hypertension and Eisenmenger syndrome
    • Associated conditions
      • fetal alcohol syndrome
      • Down syndrome
      • Patau syndrome
  • Epidemiology
    • Demographics
      • present at birth
    • Risk factors
      • family history
      • exposure to alcohol or cigarette smoking in utero
  • Presentation
    • Symptoms
      • usually asymptomatic in childhood
      • patients with large ASDs will develop symptoms later in life
        • exercise intolerance
        • poor weight gain
        • frequent pulmonary infections
    • Physical exam
      • cardiac auscultation
        • loud S1
        • wide and fixed splitting in S2
        • parasternal heave
        • systolic ejection murmur along the left upper sternal border
          • increase in flow over pulmonary valve
        • mid-diastolic rumble along the left sternal border
          • increase in flow over tricupsid valve
  • Imaging
    • Radiography
      • indication
        • often an initial test to rule out other pathologies
      • views
        • chest
      • findings
        • right heart enlargement
        • increased vascular markings
    • Echocardiography
      • indications
        • diagnostic test
        • most specific test
      • findings
        • ASD
  • Studies
    • Electrocardiogram
      • indication
        • to assess for any arrhythmias
      • findings
        • right atrial enlargement
        • right bundle branch block
    • Making the diagnosis
      • based on clinical presentation and echocardiogram
  • Differential
    • Ventricular septal defect
      • distinguishing factor
        • high-pitched and harsh holosystolic murmur
    • Aortic stenosis
      • distinguishing factor
        • paradoxical splitting of S2 (heard on expiration rather than inspiration)
        • crescendo-decrescendo systolic ejection murmur
  • Treatment
    • Management approach
      • mild defects can be left untreated
      • 6 months after procedures, patients must receive prophylaxis for infective endocarditis after dental procedures
    • Medical
      • palivizumab
        • indications
          • infants with symptomatic ASD
          • passive immunization against respiratory syncytial virus (RSV)
    • Operative
      • percutaneous or catheter device closure
        • indication
          • smaller isolated effects
          • evidence of right heart overload
          • secundum ASD
        • complications
          • arrhythmias
          • thrombosis from device
      • surgical repair
        • indication
          • shunt ratio > 1.5:1
          • primum ASD
          • evidence of right heart overload
  • Complications
    • Heart failure
    • Eisenmenger syndrome
    • Paradoxical emboli
      • venous emboli may run through ASD to become systemic arterial emboli
  • Prognosis
    • May be asymptomatic or may progress to heart failure
    • Mortality highest in infants and adults > 65 years of age
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