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 (3)
Lab Values
Blood, Plasma, Serum Reference Range
ALT 8-20 U/L
Amylase, serum 25-125 U/L
AST 8-20 U/L
Bilirubin, serum (adult) Total // Direct 0.1-1.0 mg/dL // 0.0-0.3 mg/dL
Calcium, serum (Ca2+) 8.4-10.2 mg/dL
Cholesterol, serum Rec: < 200 mg/dL
Cortisol, serum 0800 h: 5-23 μg/dL //1600 h:
3-15 μg/dL
2000 h: ≤ 50% of 0800 h
Creatine kinase, serum Male: 25-90 U/L
Female: 10-70 U/L
Creatinine, serum 0.6-1.2 mg/dL
Electrolytes, serum  
Sodium (Na+) 136-145 mEq/L
Chloride (Cl-) 95-105 mEq/L
Potassium (K+) 3.5-5.0 mEq/L
Bicarbonate (HCO3-) 22-28 mEq/L
Magnesium (Mg2+) 1.5-2.0 mEq/L
Estriol, total, serum (in pregnancy)  
24-28 wks // 32-36 wks 30-170 ng/mL // 60-280 ng/mL
28-32 wk // 36-40 wks 40-220 ng/mL // 80-350 ng/mL
Ferritin, serum Male: 15-200 ng/mL
Female: 12-150 ng/mL
Follicle-stimulating hormone, serum/plasma Male: 4-25 mIU/mL
Female: premenopause: 4-30 mIU/mL
midcycle peak: 10-90 mIU/mL
postmenopause: 40-250
pH 7.35-7.45
PCO2 33-45 mmHg
PO2 75-105 mmHg
Glucose, serum Fasting: 70-110 mg/dL
2-h postprandial:<120 mg/dL
Growth hormone - arginine stimulation Fasting: <5 ng/mL
Provocative stimuli: > 7ng/mL
Immunoglobulins, serum  
IgA 76-390 mg/dL
IgE 0-380 IU/mL
IgG 650-1500 mg/dL
IgM 40-345 mg/dL
Iron 50-170 μg/dL
Lactate dehydrogenase, serum 45-90 U/L
Luteinizing hormone, serum/plasma Male: 6-23 mIU/mL
Female: follicular phase: 5-30 mIU/mL
midcycle: 75-150 mIU/mL
postmenopause 30-200 mIU/mL
Osmolality, serum 275-295 mOsmol/kd H2O
Parathyroid hormone, serume, N-terminal 230-630 pg/mL
Phosphatase (alkaline), serum (p-NPP at 30° C) 20-70 U/L
Phosphorus (inorganic), serum 3.0-4.5 mg/dL
Prolactin, serum (hPRL) < 20 ng/mL
Proteins, serum  
Total (recumbent) 6.0-7.8 g/dL
Albumin 3.5-5.5 g/dL
Globulin 2.3-3.5 g/dL
Thyroid-stimulating hormone, serum or plasma .5-5.0 μU/mL
Thyroidal iodine (123I) uptake 8%-30% of administered dose/24h
Thyroxine (T4), serum 5-12 μg/dL
Triglycerides, serum 35-160 mg/dL
Triiodothyronine (T3), serum (RIA) 115-190 ng/dL
Triiodothyronine (T3) resin uptake 25%-35%
Urea nitrogen, serum 7-18 mg/dL
Uric acid, serum 3.0-8.2 mg/dL
Hematologic Reference Range
Bleeding time 2-7 minutes
Erythrocyte count Male: 4.3-5.9 million/mm3
Female: 3.5-5.5 million mm3
Erythrocyte sedimentation rate (Westergren) Male: 0-15 mm/h
Female: 0-20 mm/h
Hematocrit Male: 41%-53%
Female: 36%-46%
Hemoglobin A1c ≤ 6 %
Hemoglobin, blood Male: 13.5-17.5 g/dL
Female: 12.0-16.0 g/dL
Hemoglobin, plasma 1-4 mg/dL
Leukocyte count and differential  
Leukocyte count 4,500-11,000/mm3
Segmented neutrophils 54%-62%
Bands 3%-5%
Eosinophils 1%-3%
Basophils 0%-0.75%
Lymphocytes 25%-33%
Monocytes 3%-7%
Mean corpuscular hemoglobin 25.4-34.6 pg/cell
Mean corpuscular hemoglobin concentration 31%-36% Hb/cell
Mean corpuscular volume 80-100 μm3
Partial thromboplastin time (activated) 25-40 seconds
Platelet count 150,000-400,000/mm3
Prothrombin time 11-15 seconds
Reticulocyte count 0.5%-1.5% of red cells
Thrombin time < 2 seconds deviation from control
Volume  
Plasma Male: 25-43 mL/kg
Female: 28-45 mL/kg
Red cell Male: 20-36 mL/kg
Female: 19-31 mL/kg
Cerebrospinal Fluid Reference Range
Cell count 0-5/mm3
Chloride 118-132 mEq/L
Gamma globulin 3%-12% total proteins
Glucose 40-70 mg/dL
Pressure 70-180 mm H2O
Proteins, total < 40 mg/dL
Sweat Reference Range
Chloride 0-35 mmol/L
Urine  
Calcium 100-300 mg/24 h
Chloride Varies with intake
Creatinine clearance Male: 97-137 mL/min
Female: 88-128 mL/min
Estriol, total (in pregnancy)  
30 wks 6-18 mg/24 h
35 wks 9-28 mg/24 h
40 wks 13-42 mg/24 h
17-Hydroxycorticosteroids Male: 3.0-10.0 mg/24 h
Female: 2.0-8.0 mg/24 h
17-Ketosteroids, total Male: 8-20 mg/24 h
Female: 6-15 mg/24 h
Osmolality 50-1400 mOsmol/kg H2O
Oxalate 8-40 μg/mL
Potassium Varies with diet
Proteins, total < 150 mg/24 h
Sodium Varies with diet
Uric acid Varies with diet
Body Mass Index (BMI) Adult: 19-25 kg/m2
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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? Review Topic | Tested Concept

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)

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(2/2)

5

Atrial septal defect (ASD)

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L 2 C

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