An emerging phenotype of pulmonary arterial hypertension patients carrying
Journal
The European respiratory journal
ISSN: 1399-3003
Titre abrégé: Eur Respir J
Pays: England
ID NLM: 8803460
Informations de publication
Date de publication:
12 2022
12 2022
Historique:
received:
28
03
2022
accepted:
17
05
2022
medline:
1
9
2023
pubmed:
27
5
2022
entrez:
26
5
2022
Statut:
epublish
Résumé
The phenotype of pulmonary arterial hypertension (PAH) patients carrying We report the genetic analysis findings, characteristics and outcomes of patients with heritable PAH carrying 20 patients and eight unaffected relatives were identified. The median (range) age at diagnosis was 17 (2-53) years, with a female:male ratio of 1.5. At diagnosis, most of the patients (74%) were in New York Heart Association Functional Class III or IV with severe haemodynamic compromise, including a median pulmonary vascular resistance of 14.0 (4.2-31.5) WU. An associated congenital heart disease (CHD) was found in seven PAH patients (35%). Patients with CHD-associated PAH were significantly younger at diagnosis than PAH patients without CHD. Four patients (20%) suffered from recurrent haemoptysis requiring repeated arterial embolisations. 13 out of 16 patients (81%) for whom imaging was available displayed chest computed tomography abnormalities, including dilated, tortuous pulmonary vessels, ground-glass opacities as well as anomalies of the bronchial and nonbronchial arteries. After a median (range) follow-up of 47 (1-591) months, 10 patients underwent lung transplantation and one patient benefited from a heart-lung transplantation due to associated CHD. Histopathological analysis of lung explants showed a congested lung architecture with severe pulmonary arterial remodelling, subpleural vessel dilation and numerous haemorrhagic foci. PAH due to
Sections du résumé
BACKGROUND
The phenotype of pulmonary arterial hypertension (PAH) patients carrying
METHODS
We report the genetic analysis findings, characteristics and outcomes of patients with heritable PAH carrying
RESULTS
20 patients and eight unaffected relatives were identified. The median (range) age at diagnosis was 17 (2-53) years, with a female:male ratio of 1.5. At diagnosis, most of the patients (74%) were in New York Heart Association Functional Class III or IV with severe haemodynamic compromise, including a median pulmonary vascular resistance of 14.0 (4.2-31.5) WU. An associated congenital heart disease (CHD) was found in seven PAH patients (35%). Patients with CHD-associated PAH were significantly younger at diagnosis than PAH patients without CHD. Four patients (20%) suffered from recurrent haemoptysis requiring repeated arterial embolisations. 13 out of 16 patients (81%) for whom imaging was available displayed chest computed tomography abnormalities, including dilated, tortuous pulmonary vessels, ground-glass opacities as well as anomalies of the bronchial and nonbronchial arteries. After a median (range) follow-up of 47 (1-591) months, 10 patients underwent lung transplantation and one patient benefited from a heart-lung transplantation due to associated CHD. Histopathological analysis of lung explants showed a congested lung architecture with severe pulmonary arterial remodelling, subpleural vessel dilation and numerous haemorrhagic foci.
CONCLUSIONS
PAH due to
Identifiants
pubmed: 35618278
pii: 13993003.00656-2022
doi: 10.1183/13993003.00656-2022
pmc: PMC10436756
pii:
doi:
Substances chimiques
SOX17 protein, human
0
SOXF Transcription Factors
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Commentaires et corrections
Type : CommentIn
Informations de copyright
Copyright ©The authors 2022.
Déclaration de conflit d'intérêts
Conflict of interest: D. Montani reports grants from Acceleron, Janssen and Merck; consulting fees from Acceleron; lecture honoraria from Bayer, Janssen and Merck; outside the submitted work. A. Boucly reports grants from Acceleron, Janssen and MSD; lecture honoraria from Janssen and Merck; travel support from Janssen; outside the submitted work. D. Bonnet reports grants and consulting fees from Janssen and Novartis; participation on an advisory board for Lupin; outside the submitted work. M. Humbert reports grants from Acceleron, Janssen and Merck; consulting fees from Acceleron, Janssen, Merck, Altavant, MorphogenIX and Bayer; lecture honoraria from Janssen and Merck; participation on advisory boards for Acceleron, Janssen, Merck and United Therapeutics; outside the submitted work. All other authors have nothing to disclose.