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

Kenichiro Takeda; Ayumi Sekine; Nobuhiro Tanabe; Toshihiko Sugiura; Ayako Shigeta; Shinsuke Kitahara; Shun Imai; Tadasu Okaya; Jun Nagata; Akira Naito; Seiichiro Sakao; Koichiro Tatsumi; Takuji Suzuki

doi:10.1016/j.rmcr.2023.101829

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

Respir Med Case Rep. 2023 Mar 4:42:101829. doi: 10.1016/j.rmcr.2023.101829. eCollection 2023.

Authors

Kenichiro Takeda¹, Ayumi Sekine¹, Nobuhiro Tanabe^{1

2

3}, Toshihiko Sugiura^{1

3}, Ayako Shigeta¹, Shinsuke Kitahara¹, Shun Imai^{1

3}, Tadasu Okaya¹, Jun Nagata^{1

2

3}, Akira Naito¹, Seiichiro Sakao¹, Koichiro Tatsumi¹, Takuji Suzuki¹

Affiliations

¹ Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, 260-8670, Japan.
² Department of Respirology, Chibaken Saiseikai Narashino Hospital, Narashino, Japan.
³ Pulmonary Hypertension Center, Chibaken Saiseikai Narashino Hospital, Narashino, Japan.

Abstract

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.

Keywords: CI, cardiac index; CVA, cough variant asthma; Case report; Eosinophilia; IL, interleukin; IgE, immunoglobulin E; LTOT, long-term oxygen therapy; MMD, moyamoya disease; PAH, pulmonary arterial hypotension; PAP, pulmonary artery pressure; PAWP, pulmonary artery wedge pressure; PVR, pulmonary vascular resistance; Pulmonary arterial hypertension; RNF213; Vascular disease; WHO-FC, World Health Organization-Functional Classification.

Publication types

Case Reports