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Article

Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation.

Congenital heart disease - 1 Jan 2000

Coutance Guillaume, Labombarda Fabien, Cauderlier Emmanuelle, Belin Annette, Richard Pascale, Bonne Gisèle, Chapon Françoise

Abstract excerpt

Hypoplasia of the aorta is a rare entity comprising tubular hypotrophy of a large segment of the thoracic and the abdominal aorta. We report for the first time the case of a 26-year-old man with Emery-Dreifuss muscular dystrophy presenting severe and diffuse hypoplasia of the aorta.

Read the complete abstract on PubMed

Topics

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Share to Lamin Type A
Share to Aorta
Share to Cardiomyopathy, Dilated

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Fatal Outcome

Share to Muscular Dystrophy, Emery-Dreifuss

Share to Tomography, X-Ray Computed

Share to Vascular Malformations

Source

Identifiers

PMID: 22883396
DOI: 10.1111/j.1747-0803.2012.00695.x

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation.PMID 22883396Read ↗

A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation.Semantic proximity Read ↗

Emery-Dreifuss muscular dystrophy: a novel mutation in the LMNA gene.Semantic proximity Read ↗

A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy.Semantic proximity Read ↗

Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene.Semantic proximity Read ↗

A family of Emery-Dreifuss muscular dystrophy with extreme difference in severity.Semantic proximity Read ↗

[Clinical, genealogical and molecular genetic study of Emery-Dreifuss muscular dystrophy].Semantic proximity Read ↗

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.Semantic proximity Read ↗

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