P211: The mysteries of MYH11: Three unique variants causing thoracic aortic disease

Genetics in Medicine Open 2026 Open access

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Authors: Anjana Bhami Shenoy, Traevia Morris, Christopher Jordan
DOI: 10.1016/j.gimo.2026.103705
Cited by: 0

Abstract

Heritable thoracic aortic aneurysm and dissection (HTAD) is frequently linked to pathogenic variants in smooth-muscle contractile-protein genes, including MYH11. Heterozygous missense and in-frame deletions affecting the coiled-coil domain have been established in families with HTAD with autosomal dominant inheritance patterns. By contrast, copy number variants (CNVs) of MYH11 (either gains or losses) are less well characterized in this setting. Recent data indicates a complex interpretation: duplications may predispose to thoracic aortic aneurysm and dissection (TAAD), and these variants may not segregate.

Fields of Study & Subjects

Connective tissue disorders research Aortic Disease and Treatment Approaches Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103705–103705
Publication date
1 January 2026
Language
EN