Pulmonary arterial hypertension-associated genetic variants in combined post-capillary and pre-capillary pulmonary hypertension: a case report

Chomette L; Caravita S; Dewachter C; Abramowicz M; Vachiery Jl; Bondue Antoine

doi:10.1177/2045894021996571

Pulmonary arterial hypertension-associated genetic variants in combined post-capillary and pre-capillary pulmonary hypertension: a case report

Pulm Circ. 2021 Mar 2;11(1):2045894021996571. doi: 10.1177/2045894021996571. eCollection 2021 Jan-Mar.

Authors

Chomette L¹, Caravita S^{1

2

3}, Dewachter C¹, Abramowicz M^{4

5

6}, Vachiery Jl¹, Bondue Antoine^{1

5}

Affiliations

¹ Department of Cardiology, CUB Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.
² Department of Cardiovascular, Neural and Metabolic Sciences, Istituto Auxologico Italiano I.R.C.C.S. Ospedale San Luca, Milan, Italy.
³ Department of Management, Information and Production Engineering, University of Bergamo, Dalmine (BG), Italy.
⁴ Department of Human Genetics, CUB Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.
⁵ IRIBHM, Université Libre de Bruxelles, Brussels, Belgium.
⁶ Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.

Abstract

Predisposing factors for the development of a pre-capillary component in pulmonary hypertension associated with left heart disease remain elusive. We report the case of a patient with persistent combined post-capillary and pre-capillary pulmonary hypertension after cardiac transplantation, in whom a rare BMPR2 variant was found.

Keywords: heart failure; mutations; pulmonary arterial hypertension; pulmonary circulation; risk factors.

Publication types

Case Reports