Pulmonary hypertension in patients carrying<i>FLNA</i>loss-of-function variants
Pre-capillary PH, likely due to multiple mechanisms, may complicate the course of patients with <i>FLNA</i> LOF variants and may be the presenting symptom leading to diagnosis. The combination of PH with parenchymal involvement and extrapulmonary symptoms (epilepsy, congenital heart diseases, valvular and aortic involvement, and thrombocytopenia) should prompt genetic screening for <i>FLNA</i>.
Authors
- Olivier Meyrignac (ORCID: https://orcid.org/0000-0002-9744-9095)
- Vincent Cottin (ORCID: https://orcid.org/0000-0002-5591-0955)
- Florence Coulet (ORCID: https://orcid.org/0000-0002-5325-5272)
- Julien Grynblat (ORCID: https://orcid.org/0000-0001-5593-3383)
- Marilyne Lévy (ORCID: https://orcid.org/0000-0003-2202-273X)
- Damien Bonnet (ORCID: https://orcid.org/0000-0002-8722-5805)
- Laurent Savale (ORCID: https://orcid.org/0000-0002-6862-8975)
- Thomas Lacoste-Palasset (ORCID: https://orcid.org/0000-0003-3543-6675)
- David Montani (ORCID: https://orcid.org/0000-0002-9358-6922)
- Maria‐Rosa Ghigna (ORCID: https://orcid.org/0000-0001-5996-665X)
- Marc Humbert (ORCID: https://orcid.org/0000-0003-0703-2892)
- Xavier Jaïs (ORCID: https://orcid.org/0000-0002-4104-7994)
- Olivier Sitbon (ORCID: https://orcid.org/0000-0002-1942-1951)
- François Goupil (ORCID: https://orcid.org/0000-0001-6238-102X)
- Frédéric Gagnadoux (ORCID: https://orcid.org/0000-0002-4231-5102)
- Laura Stourm
Institutions
- Université Claude Bernard Lyon 1 (FR)
- Hôpital Necker-Enfants Malades (FR)
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Université Paris Cité (FR)
- Commissariat à l'Énergie Atomique et aux Énergies Alternatives (FR)
- Université Paris-Saclay (FR)
- Institut Gustave Roussy (FR)
- Sorbonne Université (FR)
- Institut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hospices Civils de Lyon (FR)
- Hypertension pulmonaire : physiopathologie et innovation thérapeutique (FR)
- Pitié-Salpêtrière Hospital (FR)
- Centre Hospitalier du Mans (FR)
- Center for Health and Gender Equity (US)
- Hôpital Louis Pradel (FR)
- Bicêtre Hospital (FR)
- Université d'Angers (FR)
Publication Details
- Journal
- European Respiratory Journal
- Published
- 2024-11-07
- DOI
- https://doi.org/10.1183/13993003.01132-2024
- Citations
- 3
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.70