The results of genetic analysis and clinical outcomes after stent deployment in adult patients with isolated peripheral pulmonary artery stenosis
Misaki Kanezawa, Hiroto Shimokawahara, Masahiro Tsuji, Kazuki Suruga, Ayane Miyagi, M. Marunaka, Takashi Mukai, Takahisa Kawaguchi, Ta‐Yu Yang, Izumi Yamaguchi, Masao Nagasaki, Fumihiko Matsuda, Hiromi Matsubara
Abstract
Peripheral pulmonary arterial stenosis (PPAS) is commonly observed in pediatric patients with associated congenital heart disease or systemic congenital syndromes, such as tetralogy of Fallot and Williams syndrome [1]. Meanwhile, isolated PPAS without other structural heart disease or systemic congenital syndromes is primarily reported in adulthood [2]. Recent genetic analyses have revealed that four cases of isolated PPAS in adulthood were homozygous for the ring finger protein 213 (RNF213) p.Arg4810Lys variant (also referred to as G to A alteration of rs112735431 and NM_001256071.3:c.14429G>A) [3]. RNF213 p.Arg4810Lys is a genetic determinant in Moyamoya disease (MMD) in East Asians [4]. This genetic variant is unique to East Asians and is reported to have a frequency of approximately 0.8% in the general Japanese population [5, 6]. However, its prevalence in adult patients with isolated PPAS remains unknown. Footnotes This manuscript has recently been accepted for publication in the European Respiratory Journal . It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJ online. Please open or download the PDF to view this article. Conflict of interest: Dr. Shimokawahara received lecture fees from Bayer Yakuhin and Nippon Shinyaku and research funding from Bayer Yakuhin. Conflict of interest: Dr. Matsubara has received lecture fees from Bayer, Nippon Shinyaku, Janssen, Mochida Yakuhin, Nipro, and Kaneka Medix. Conflict of interest: Dr. Matsubara is involved in collaborative research with Nippon Shinyaku. Conflict of interest: The other authors have no conflicts of interest to disclose.