A Familial Thoracic Aortic and Arterial Aneurysm Syndrome Associated With FBN2 (Y1311C) and MYH11 (R34T) Variants: A Multigenerational Case Report

TL;DR

A family with a rare aortic disease caused by genetic changes in FBN2 and MYH11 is reported, showing the importance of genetic testing and monitoring.

Contribution

The paper reports a multigenerational case of a rare aortopathy linked to FBN2 and MYH11 variants.

Findings

FBN2 (Y1311C) and MYH11 (R34T) variants were identified in multiple family members with aortic disease.

Both sons showed mild aortic root dilation, indicating early disease manifestation.

The case emphasizes the need for genetic testing and long-term monitoring in at-risk families.

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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