Updated: 7/23/2020

Ventricular Septal Defect (VSD)

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Snapshot
  • A neonate is born to a 23-year-old mother via a normal and uncomplicated spontaneous vaginal delivery. On examination, the neonatologist finds a holosystolic murmur at the lower left sternal border. Two days later, the murmur persists. The baby is sent for an echocardiogram to further evaluate the murmur.
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 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
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
      • heart failure
    • 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
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 echocardiogram
Differential
  • Atrial septal defect
    • distinguishing factor
      • if symptomatic, murmur 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 topic

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Questions (5)
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(M2.CV.16.73) A 4-year-old male is brought into your office because his mother states he has been fatigued. He has not been acting like himself and has been getting tired easily while running around and playing with other children. As of last week, he has also been complaining of being short of breath. His vitals are temperature 98.6 deg F (37.2 deg C), blood pressure 100/75 mmHg, pulse 98/min, and respirations 22/min. On exam, the patient is short of breath, and there is a holosystolic murmur with an appreciable thrill along the left sternal border. There are no other noticeable abnormalities, and the mother states that the child's prenatal course along with genetic testing was normal. What is the most likely diagnosis?

QID: 106578
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Endocardial cushion defect

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2

Tetrology of Fallot

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3

Patent ductus arteriosus (PDA)

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Ventricular septal defect (VSD)

75%

(3/4)

5

Atrial septal defect (ASD)

25%

(1/4)

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