Sequential combination therapy with parenteral prostacyclin in BMPR2 mutations carriers

Boucly, Athénaïs; Savale, Laurent; Jaïs, Xavier; Humbert, Marc; Sitbon, Olivier; Montani, David

doi:10.1002/pul2.12023

Cited by 3 publications

(1 citation statement)

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“…Benza et al demonstrated that variants in endothelin metabolism may predict outcomes in PAH patients treated with endothelin receptor antagonists [91]. Two recent case series explored the hypothesis that pathogenic variants in the BMPR2 gene may be associated with a reduced haemodynamic response to inhaled or parenteral prostanoids [92,93]. The conclusions were different, but it is interesting to notice that the different results might be related to the aggressiveness of the therapeutic approach.…”

Section: Areas Of Uncertaintymentioning

confidence: 99%

Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH

Eichstaedt

Belge²,

Chung³

et al. 2022

Eur Respir J

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Pulmonary arterial hypertension (PAH) is a rare disease, which can be caused by (likely) pathogenic germline genomic variants. In addition to the most prevalent disease gene, termedbone morphogenetic protein receptor 2(BMPR2), several genes, some belonging to distinct functional classes, are also now known to predispose to the development of PAH. As a consequence, specialist and non-specialist clinicians and health care professionals, are increasingly faced with a range of questions regarding the need for, approaches to and the benefits and risks, of genetic testing for PAH patients and/or related family members. We provide a consensus-based approach to recommendations for genetic counselling and assessment of current best practice for disease gene testing. We provide a framework and the type of information to be provided to patients and relatives, through the process of genetic counselling, and describe the presently known disease causal genes, to be analysed. Benefits of including molecular genetic testing within the management protocol of patients with PAH, include identification of individuals misclassified by other diagnostic approaches, the optimisation of phenotypic characterisation for aggregation of outcome data, including in clinical trials and importantly through cascade screening, the detection of healthy causal variant carriers, to whom regular assessment should be offered.

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Section: Areas Of Uncertaintymentioning

confidence: 99%