Pulmonary hypertension screening

Pulmonary Hypertension Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Assistant Editor(s)-in-Chief: Ralph Matar

Overview

Patients with a known BMPR2 mutation, scleroderma, and portal hypertension undergoing evaluation for liver transplantation should receive periodic screening for pulmonary hypertension (PH) through a thorough assessment of the presence of symptoms, physical examination, chest X ray, electrocardiography, and echocardiogram. Additional investigation with right heart catheterization should be performed if screening is suggestive of the presence of PH.

Screening

Shown below is a table summarizing the recommended screening in several medical conditionas associated with elevated risk for PH.

Condition	Recommended screening
Known BMPR2 mutation	Echocardiogram (yearly)
BMPR2 mutation in a first degree relative	Genetic counseling BMPR2 genotyping
Family history for PAH in 2 or more relatives	Genetic counseling BMPR2 genotyping
Systemic sclerosis	Echocardiogram (yearly)
Portal hypertension	Echocardiogram if orthotopic liver transplantation is in consideration
Sickle cell disease	Echocardiogram (yearly)
Previous use of fenfluramine	Echocardiogram in case of symptoms
Congenital heart disease	Echocardiogram at the time of diagnosis

Echocardiography findings that are suggestive of PH include:

1. Enlargement of the size of right atrium and right ventricle
2. Decrease in the function of the right ventricle
3. Displacement of the interventricular septum
4. Tricuspid regurgitation
5. Presence of pericardial effusion