Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia Related to an ACVRL1 Mutation.
ACVRL1 mutation
hereditary hemorrhagic telangiectasia
pulmonary hypertension
Journal
Internal medicine (Tokyo, Japan)
ISSN: 1349-7235
Titre abrégé: Intern Med
Pays: Japan
ID NLM: 9204241
Informations de publication
Date de publication:
15 Jan 2020
15 Jan 2020
Historique:
pubmed:
13
9
2019
medline:
9
6
2020
entrez:
13
9
2019
Statut:
ppublish
Résumé
Pulmonary hypertension and hereditary hemorrhagic telangiectasia (HHT) have an association mediated by activin A receptor type II-like 1 (ACVRL1) gene pathogenic variants. A 30-year-old woman was previously admitted to a hospital due to lung hemorrhage, and was diagnosed with pulmonary hypertension, but stopped follow-up visits. At 48 years of age, she was admitted to our hospital and was diagnosed with HHT. Genetic testing revealed an ACVRL1 pathogenic variant. After the initiation of pulmonary vasodilator treatment, the patient's mean pulmonary artery pressure started to decrease from 43 mmHg, declining to 37 mmHg when she was 58 years of age. This is the first report describing the 28-year follow-up of an HHT and pulmonary hypertension patient with an ACVRL1 mutation.
Identifiants
pubmed: 31511490
doi: 10.2169/internalmedicine.3625-19
pmc: PMC7008044
doi:
Substances chimiques
ACVRL1 protein, human
EC 2.7.11.30
Activin Receptors, Type II
EC 2.7.11.30
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
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