ArticleCureus2026
A Familial Thoracic Aortic and Arterial Aneurysm Syndrome Associated With FBN2 (Y1311C) and MYH11 (R34T) Variants: A Multigenerational Case Report.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Case Report: A novel variant in fibrillin-2 identified in a congenital contractural arachnodactyly family with phenotypic heterogeneity.Frontiers in medicine · 2026Article
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3 authors.
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Abstract
Heritable thoracic aortic disease (HTAD) is a group of genetic conditions that make people more likely to have problems with their thoracic aorta, such we talk about a rare family where a 64-year-old man had a stroke caused by a tear in a brain artery, which led to worsening thoracic aortic disease that needed surgery to replace his aortic valve and root, treatment for peripheral artery aneurysms, and later, a pacemaker for heart issues. Genetic testing found the same fibrillin-2 (FBN2) (Y1311C) change in the father and both of his sons, and the father and younger son also had a different change, myosin heavy chain 11 (MYH11). Screening imaging showed that both sons had mild aortic root dilation. This case highlights an uncommon familial aortopathy involving overlapping extracellular matrix and smooth muscle contractile pathways and illustrates the value of cascade genetic testing and longitudinal imaging surveillance of at-risk family members.
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