Question

Difficulty: HardDiagnostic Workup and Test Sequencing

A 54-year-old woman is evaluated in the outpatient pulmonary clinic for a 6-month history of progressive shortness of breath with exertion. She reports no chest pain, orthopnea, or syncope. She has a history of unprovoked deep vein thrombosis 3 years ago, for which she completed 6 months of anticoagulation therapy. Her current medications include a daily multivitamin. Vitals show a blood pressure of 128/82128/82 mm Hg, pulse of 8888/min, and respiratory rate of 1818/min. Pulse oximetry is 96%96\% on room air. Physical examination reveals clear lung fields bilaterally. Cardiac examination demonstrates a parasternal heave and a prominently split S2S_2 with a loud pulmonic component. Transthoracic echocardiography reveals right atrial and right ventricular enlargement, flattened interventricular septum during systole, and an estimated right ventricular systolic pressure of 6565 mm Hg. Left ventricular ejection fraction is 60%60\% with normal diastolic function. Which of the following is the most appropriate next step in the diagnostic workup of this patient?

  1. Ventilation-perfusion (V/Q) scanAnswer
  2. B
    Right heart catheterization
  3. C
    Computed tomography pulmonary angiography
  4. D
    High-resolution computed tomography of the chest
  5. E
    Nocturnal polysomnography

Answer

Ventilation-perfusion (V/Q) scan
The correct answer is the ventilation-perfusion (V/Q) scan. This patient's presentation of progressive exertional dyspnea, specific physical examination findings (parasternal heave, loud pulmonic component of S2S_2), and echocardiographic results (elevated right ventricular systolic pressure, right ventricular enlargement) are diagnostic of pulmonary hypertension. Given her history of an unprovoked deep vein thrombosis, she is at a significantly increased risk for chronic thromboembolic pulmonary hypertension (CTEPH, WHO Group 4). According to clinical guidelines, a V/Q scan is the preferred initial screening test for CTEPH because it provides superior sensitivity for detecting chronic, organized thromboembolic disease compared to computed tomography pulmonary angiography (CTPA).

Step-by-Step Solution

1
Analyze the patient's clinical presentation and echocardiogram findings.
The patient exhibits classic signs of pulmonary hypertension, including exertional dyspnea, a parasternal heave, a loud pulmonic component of S2S_2, right ventricular enlargement, and an elevated right ventricular systolic pressure of 6565 mm Hg on echocardiography.
Establishing the presence of pulmonary hypertension is the first step before identifying the underlying etiology.
2
Assess the patient's risk factors to prioritize the differential diagnosis for the etiology of pulmonary hypertension.
The patient has a clear history of unprovoked deep vein thrombosis, placing her at high risk for World Health Organization (WHO) Group 4 pulmonary hypertension, known as chronic thromboembolic pulmonary hypertension (CTEPH).
Pre-test probability dictates the most appropriate and cost-effective sequence of diagnostic testing.
3
Determine the guideline-recommended initial diagnostic test to evaluate for CTEPH.
A ventilation-perfusion (V/Q) scan is selected over other imaging modalities.
V/Q scanning has superior sensitivity compared to computed tomography pulmonary angiography for detecting chronic, organized thromboembolic disease.

Key Concept

Ventilation-perfusion (V/Q) scanning is the guideline-recommended initial diagnostic test of choice to screen for chronic thromboembolic pulmonary hypertension (CTEPH) in patients with unexplained pulmonary hypertension.
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