Familial chronic thromboembolic pulmonary hypertension

Julianna Desmarais, C. Gregory Elliott

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


Chronic thromboembolic pulmonary hypertension (CTEPH) is an uncommon disease that is the most serious complication associated with unresolved pulmonary embolism. This disease has several risk factors, but no familial pattern has been described. Few thrombophilic conditions have been reported to increase risk of CTEPH, and none of the hereditary thrombophilias causes this disease. The reason CTEPH develops in some patients after pulmonary embolism remains unknown. We describe a 54-year-old woman and her maternal aunt who both underwent pulmonary thromboendarterectomy for CTEPH. This represents the first description of familial CTEPH.

Original languageEnglish (US)
Pages (from-to)e99-e101
Issue number4
StatePublished - Apr 2016
Externally publishedYes


  • Chronic thromboembolic pulmonary hypertension
  • Familial
  • Heritable
  • Pulmonary embolism
  • Pulmonary hypertension

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine
  • Critical Care and Intensive Care Medicine
  • Cardiology and Cardiovascular Medicine


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