Hereditary Hemorrhagic Telangiectasia with Recurrent Epistaxis, Telangiectasia, Hepatic Arteriovenous Malformation, and a Poorly Developed Middle Cerebral Artery in a Patient with a Novel Mutation in the ACVRL1 Gene.

Takayoshi Miki, Teruyuki Ishikura, Naohiro Fujita, Tomohito Nakano, Hajime Kimura, Hisae Sumi-Akamaru, Takashi Naka

Abstract readCase Reports

In one paragraph

Article in Internal medicine (Tokyo, Japan), 2025. 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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0citing papers in PubMed

–field-weighted citation impact

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5 · Who and what money

Authors and funding

7 authors.

Takayoshi MikiDepartment of Neurology, Higashiosaka City Medical Center, Japan.

Teruyuki IshikuraDepartment of Neurology, Higashiosaka City Medical Center, Japan.

Naohiro FujitaDepartment of Neurology, Higashiosaka City Medical Center, Japan.

Tomohito NakanoDepartment of Neurology, Higashiosaka City Medical Center, Japan.

Hajime KimuraDepartment of Neurosurgery, Higashiosaka City Medical Center, Japan.

Hisae Sumi-AkamaruDepartment of Neurology, Higashiosaka City Medical Center, Japan.

Takashi NakaDepartment of Neurology, Higashiosaka City Medical Center, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular disorder characterized by intractable epistaxis, mucocutaneous telangiectasias, and arteriovenous malformations (AVMs) in multiple organs, including the lungs, liver, gastrointestinal tract, brain, and spinal cord. We herein report a 50-year-old Japanese man with HHT who experienced recurrent epistaxis, telangiectasia in the cornea, apex of the tongue and fingers; hepatic AVM; and a poorly developed main arterial trunk in the right middle cerebral artery. A genetic analysis revealed a novel heterozygous mutation in the activin A receptor-like type 1 gene, with a frameshift mutation in NM_000020.3:c.826_836del (p.Ile276ProfsTer112).

Indexed as

Activin Receptors, Type IIArteriovenous MalformationsEpistaxisHepatic ArteryMiddle Cerebral ArteryMutationTelangiectasia, Hereditary HemorrhagicFrameshift MutationHumansMaleMiddle AgedRecurrenceActivin Receptors, Type IIACVRL1 protein, humanACVRL1hereditary hemorrhagic telangiectasiamiddle cerebral artery

Identifiers

PMID38960693

DOI10.2169/internalmedicine.3485-24

PMCPMC11867738

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