Familial chronic thromboembolic pulmonary hypertension

Julianna Desmarais; C. Gregory Elliott

doi:10.1016/j.chest.2015.09.017

Familial chronic thromboembolic pulmonary hypertension

Julianna Desmarais, C. Gregory Elliott

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

Abstract

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 language	English (US)
Pages (from-to)	e99-e101
Journal	CHEST
Volume	149
Issue number	4
DOIs	https://doi.org/10.1016/j.chest.2015.09.017
State	Published - Apr 2016
Externally published	Yes

Keywords

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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10.1016/j.chest.2015.09.017

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title = "Familial chronic thromboembolic pulmonary hypertension",

abstract = "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.",

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AU - Elliott, C. Gregory

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AB - 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.

KW - Chronic thromboembolic pulmonary hypertension

KW - Familial

KW - Heritable

KW - Pulmonary embolism

KW - Pulmonary hypertension

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Familial chronic thromboembolic pulmonary hypertension

Abstract

Keywords

ASJC Scopus subject areas

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