ArticleRespiratory medicine case reports2020
A histopathological report of a 16-year-old male with peripheral pulmonary artery stenosis and Moyamoya disease with a homozygous
Article in Respiratory medicine case reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- Extracranial vascular association of moyamoya disease: a systematic review and machine learning analysis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Pooled it
- An Rnf213-deficient hypoperfusion model reveals Moyamoya-relevant neurovascular remodeling.Angiogenesis · 2026Article
- Multisystemic Impact of RNF213 Arg4810Lys: A Comprehensive Review of Moyamoya Disease and Associated Vasculopathies.International journal of molecular sciences · 2025Review
- Article
- Balloon Pulmonary Angioplasty in HeterozygousJournal of the American Heart Association · 2025Article
- Medial Dissection Following Balloon Angioplasty in Peripheral Pulmonary Artery Stenosis Harbouring HomozygousCJC open · 2025Article
- Prevalence and Clinical Characteristics of HeterozygousJournal of the American Heart Association · 2024Article
- Identification ofJournal of the American Heart Association · 2024Article
- Two Postmortem Cases of Moyamoya Disease with Different RNF213 p.R4810K Variant Statuses.NMC case report journal · 2024Article
- Adult-onset idiopathic peripheral pulmonary artery stenosis.The European respiratory journal · 2023Article
- Ring Finger Protein 213 in Moyamoya Disease With Pulmonary Arterial Hypertension: A Mini-Review.Frontiers in neurology · 2022Review
- Ring finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasia.Scientific reports · 2021Article
- Moyamoya disease associated with pediatric pulmonary hypertension-a case report.Cardiovascular diagnosis and therapy · 2021Article
- Association of De NovoNeurology · 2021Article
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Peripheral pulmonary artery stenosis (PPAS) is a rare pulmonary vasculopathy characterized by multiple stenoses and obstructions in the peripheral pulmonary arteries. PPAS often develops in children with congenital diseases such as Williams syndrome and Alagille syndrome; however, recent studies have reported PPAS cases in adults with Moyamoya disease (MMD). Recent genetic studies have demonstrated that ring finger protein 213 (RNF213) is a susceptibility gene for MMD. However, the pathophysiology of combined PPAS and MMD and the relationship between the two diseases remain largely unknown. Here we report a case of PPAS in a 16-year-old male, with a history of MMD, who died suddenly at 24. An autopsy was performed, and remarkable pathological changes were identified in the pulmonary arteries and in other arteries. Furthermore, genetic analysis revealed that the patient had a homozygous c.14576G > A (p.R4859K) mutation in RNF213. This is the first report to demonstrate the histopathology of systemic arteriopathy in a case with MMD and PPAS with a confirmed homozygous RNF213 mutation. We also review immunohistochemical data from the case and discuss how RNF213 mutation could have resulted in the observed vascular abnormalities.
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