The results of genetic analysis and clinical outcomes after stent deployment in adult patients with isolated peripheral pulmonary artery stenosis

Extract Peripheral pulmonary arterial stenosis (PPAS) is commonly observed in paediatric 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.
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Pulmonary vascular disease Research Letters Source Type: research