Genetics of High-Altitude Pulmonary Edema

Christina A Eichstaedt; Nicola Benjamin; Ding Cao; Eglė Palevičiūtė; Ekkehard Grünig

doi:10.1016/j.hfc.2022.07.002

Genetics of High-Altitude Pulmonary Edema

Heart Fail Clin. 2023 Jan;19(1):89-96. doi: 10.1016/j.hfc.2022.07.002.

Authors

Christina A Eichstaedt¹, Nicola Benjamin², Ding Cao³, Eglė Palevičiūtė⁴, Ekkehard Grünig²

Affiliations

¹ Centre for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital, Röntgenstraße 1, Heidelberg 69126, Germany; Laboratory for Molecular Genetic Diagnostics, Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 366, Heidelberg 69120, Germany; Translational Lung Research Center Heidelberg (TLRC), Member of the German Center for Lung Research (DZL), Heidelberg, Germany. Electronic address: christina.eichstaedt@med.uni-heidelberg.de.
² Centre for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital, Röntgenstraße 1, Heidelberg 69126, Germany; Translational Lung Research Center Heidelberg (TLRC), Member of the German Center for Lung Research (DZL), Heidelberg, Germany.
³ Centre for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital, Röntgenstraße 1, Heidelberg 69126, Germany; Laboratory for Molecular Genetic Diagnostics, Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 366, Heidelberg 69120, Germany.
⁴ Clinic of Cardiac and Vascular Diseases, Institute of Clinical Medicine, Vilnius University, Santariskiu-2, Vilnius 08661, Lithuania.

PMID: 36435576
DOI: 10.1016/j.hfc.2022.07.002

Abstract

High-altitude pulmonary edema (HAPE) is the main cause of nontraumatic death at high altitude. HAPE development is not only related to the mode and speed of ascent and the maximum altitude reached, but also individual susceptibility plays an important role. In susceptible individuals, hypoxic pulmonary vasoconstriction leads to exaggerated elevated pulmonary arterial pressures and capillary leakage in the lungs. Thus, this review provides an overview of studies investigating the genetic background in HAPE susceptibles by focusing on specific variants, entire genes, genome-wide signatures, or family studies.

Keywords: High-altitude pulmonary edema; Hypoxia; Mutations; Polymorphisms; Pulmonary artery pressure; Pulmonary hypertension.

Publication types

Review

MeSH terms

Altitude
Altitude Sickness* / genetics
Humans
Hypertension, Pulmonary* / complications
Hypertension, Pulmonary* / genetics
Pulmonary Edema* / genetics

Supplementary concepts

Pulmonary edema of mountaineers