Pulmonary hypertension screening

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Pulmonary Hypertension Microchapters


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Differentiating Pulmonary hypertension from other Diseases

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Case #1

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Assistant Editor(s)-in-Chief: José Eduardo Riceto Loyola Junior, M.D.[2]; Ralph Matar


Patients with a known BMPR2 mutation, scleroderma, and portal hypertension undergoing evaluation for liver transplantation should receive periodic screening for pulmonary hypertension (PH) through echocardiography.


  • Studies have not shown an impact on outcomes with pulmonary hypertension screening;
  • Despite that, there is an expert consensus that some groups of patients must be screened for pulmonary hypertension such as:
    • Patients with scleroderma spectrum disorders (especially the ones with corrected DLCO less than 80%);
    • Patients with mutations for a heritable form of PAH;
    • Patients with portal hypertension being considered for organ transplantation;
  • These patients must be screened annually with echocardiography.[1]


Shown below is a table summarizing the recommended screening in several medical conditions associated with elevated risk for PH.[2][3]

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

Echocardiography findings that are suggestive of PH include:[4]

  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


  1. Poch D, Mandel J (2021). "Pulmonary Hypertension". Ann Intern Med. 174 (4): ITC49–ITC64. doi:10.7326/AITC202104200. PMID 33844574 Check |pmid= value (help).
  2. ACCF/AHA 2009 Expert Consensus Document on Pulmonary Hypertension
  3. ACCF/AHA 2009 Expert Consensus Document on Pulmonary Hypertension
  4. ACCF/AHA 2009 Expert Consensus Document on Pulmonary Hypertension

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