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Review
. 2017 Sep 6;26(145):170037.
doi: 10.1183/16000617.0037-2017. Print 2017 Sep 30.

Heritable pulmonary hypertension: from bench to bedside

Barbara Girerd  1   2   3 , Jason Weatherald  1   2   3   4 , David Montani  1   2   3 , Marc Humbert  5   2   3
Affiliations
Review

Heritable pulmonary hypertension: from bench to bedside

Barbara Girerd et al. Eur Respir Rev. .

Abstract

Mutations in the BMPR2 gene, and more rarely in ACVRL1, endoglin, caveolin-1, KCNK3 and TBX4 genes predispose to heritable pulmonary arterial hypertension, an autosomal dominant disease with incomplete penetrance. Bi-allelic mutations in the EIF2AK4 gene predispose to heritable pulmonary veno-occlusive disease/pulmonary capillary haemangiomatosis, an autosomal recessive disease with an unknown penetrance.In France, the national pulmonary hypertension referral centre offers genetic counselling and testing to adults and children. Predictive testing is also proposed to adult relatives at risk of carrying a predisposing mutation. In that context, we offer all asymptomatic BMPR2 mutation carriers a programme to detect pulmonary arterial hypertension at an early phase, as recommended by the 2015 European Society Society of Cardiology/European Respiratory Society pulmonary hypertension guidelines. Finally, pre-implantation genetic diagnosis has been conducted on five embryos from two couples in which the fathers were carriers of a pathogenic BMPR2 mutation.

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Conflict of interest statement

Conflict of interest: Disclosures can be found alongside this article at err.ersjournals.com

Figures

FIGURE 1
FIGURE 1
Historical timeline showing the main dates of genetic discovery in heritable pulmonary hypertension. PVOD/PCH: pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis; PAH: pulmonary arterial hypertension.
FIGURE 2
FIGURE 2
Distribution of mutations in sporadic and familial pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis (PVOD/PCH) patients and asymptomatic relatives in the French PAH network (adult cohort). Reproduced and modified from [49] with permission.
See this image and copyright information in PMC

Comment in

  • doi: 10.1183/16000617.0059-2017

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