Two cases of pulmonary arterial hypertension with specific vascular Мalformations and unique eosinophilic inflammation in carriers of the RNF213 p. Arg4810Lys variant: Case series

RNF213 p.Arg4810Lys is linked to various vascular diseases, including pulmonary arterial hypertension (PAH); however, its pathogenesis remains unclear. Here, we report the unique features of two cases of severe PAH with this variant: one is the first reported case with stenosis of the thoracic and a...

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Bibliographic Details
Published in:Respiratory medicine case reports 2023-01, Vol.42, p.101829, Article 101829
Main Authors: Takeda, Kenichiro, Sekine, Ayumi, Tanabe, Nobuhiro, Sugiura, Toshihiko, Shigeta, Ayako, Kitahara, Shinsuke, Imai, Shun, Okaya, Tadasu, Nagata, Jun, Naito, Akira, Sakao, Seiichiro, Tatsumi, Koichiro, Suzuki, Takuji
Format: Article
Language:English
Subjects:
Case Report
Eosinophilia
Pulmonary arterial hypertension
RNF213
Vascular disease
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Summary:RNF213 p.Arg4810Lys is linked to various vascular diseases, including pulmonary arterial hypertension (PAH); however, its pathogenesis remains unclear. Here, we report the unique features of two cases of severe PAH with this variant: one is the first reported case with stenosis of the thoracic and abdominal aorta, femoral arteries, and subclavian veins. Coexistence of severe and continuous eosinophilic inflammation, which has been suspected to be implicated in the pathogenesis of PAH in previous fundamental studies, was also present in both cases. Further studies are needed to clarify the pathogenetic mechanisms in vascular lesions with this variant.
ISSN:2213-0071
2213-0071
DOI:10.1016/j.rmcr.2023.101829