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Article

Pulmonary arterial hypertension as the first manifestation in a patient with hereditary hemorrhagic telangiectasia.

Internal medicine (Tokyo, Japan) - 1 Jan 2014

Ishiwata Tsukasa, Terada Jiro, Tanabe Nobuhiro, Abe Mitsuhiro, Sugiura Toshihiko, Tsushima Kenji, Tada Yuji, Sakao Seiichiro, Kasahara Yasunori, Nakanishi Norifumi, Morisaki Hiroko, Tatsumi Koichiro

Abstract excerpt

A 17-year-old Japanese girl visited our hospital for an evaluation of exertional dyspnea. A diagnosis of pulmonary arterial hypertension (PAH) was confirmed based on the findings of right heart catheterization. Detailed questioning revealed a family history of hereditary hemorrhagic telangiectasia (HHT), and a genetic mutation analysis disclosed a mutation in the activin receptor-like kinase 1 gene (ACVRL1). The...

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Share to Activin Receptors, Type II
Share to Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diagnosis, Differential

Share to DNA Mutational Analysis

Share to ACVRL1 gene

Share to Hypertension, Pulmonary

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Share to Telangiectasia, Hereditary Hemorrhagic

Source

Identifiers

PMID: 25318803
DOI: 10.2169/internalmedicine.53.2850

Genes

PAH
ACVRL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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