Evidence map›Paper›PMID 42266410›Full record

ArticleFrontiers in genetics2026

Ischemic stroke as an initial manifestation of Loeys-Dietz syndrome type 3 caused by the recurrent p.Arg287Trp variant in

Cong-Xin Chen, Yu-Yun Zhou, Zhu-Quan Hong, Quan-Long Hong

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In one paragraph

Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Cong-Xin ChenDepartment of Neurology, First Hospital of Quanzhou Affiliated to Fujian Medical University, Quanzhou, Fujian, China.
Yu-Yun ZhouDepartment of Neurology, First Hospital of Quanzhou Affiliated to Fujian Medical University, Quanzhou, Fujian, China.
Zhu-Quan HongDepartment of Neurology, First Hospital of Quanzhou Affiliated to Fujian Medical University, Quanzhou, Fujian, China.
Quan-Long HongDepartment of Neurology, First Hospital of Quanzhou Affiliated to Fujian Medical University, Quanzhou, Fujian, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Loeys-Dietz syndrome type 3 (LDS3) is a rare autosomal dominant connective tissue disorder caused by pathogenic variants in Case presentation: We report a 32-year-old Chinese woman who presented with acute ischemic stroke involving the right occipital lobe and thalamus. Comprehensive vascular imaging revealed multiple arterial abnormalities, including aberrant right subclavian artery with aneurysmal dilatation, right vertebral artery aneurysmal dilatation with multisegmental stenosis, left vertebral artery multifocal segmental severe stenosis, and tortuous intracranial vessels Whole-exome sequencing identified a heterozygous pathogenic variant NM_005902.4:c.859C>T (p.Arg287Trp) in Conclusion: This case expands the phenotypic spectrum of LDS3, emphasizing that ischemic stroke may be an underrecognized initial presentation. Early genetic screening in young stroke patients with unusual vascular features may facilitate timely diagnosis and enable appropriate preventive interventions.

Indexed as

arterial dissectiongenotype-phenotype correlationischemic strokeLoeys-Dietz syndrome type 3Smad3

Identifiers

PMID42266410
PMCPMC13245937

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