Updated: 1/28/2021

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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(M1.CV.12.7) An 8-year-old African-American male is found to have a holosystolic, harsh-sounding murmur upon physical examination. The murmur is best appreciated at the left sternal border, and is found to be louder when the patient squats. Which of the following is the most likely diagnosis?

QID: 100523
1

Ventricular septal defect

68%

(223/330)

2

Patent ductus arteriosus

11%

(36/330)

3

Atrial septal defect

5%

(18/330)

4

Tricuspid atresia

4%

(12/330)

5

Aortic stenosis

12%

(39/330)

M 2 E

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