Hereditary thoracic aortic disease associated with cysteine substitution c.937T > G p.(Cys313Gly) in FBN1

A 56-year-old male was diagnosed with a type A aortic dissection, followed by a type B dissection 3 years later. There were no other signs indicating a familial connective tissue disorder. Pathogenic variant c.937T > G p.(Cys313Gly) in FBN1 [(NM_000138.4), Online Mendelian Inheritance in Man (OMIM) entry *134797] was identified by DNA testing, consistent with Marfan syndrome (OMIM entry #154700). The variant was identified in 21 out of 53 tested relatives (Fig. 1). A thoracic aortic aneurysm was diagnosed in eight relatives carrying the variant, three of whom met the criteria for preventive surgery. One of the deceased obligate carriers probably had a thoracic aortic aneurysm. Most mutation carriers had a systemic score [1] of zero or one, although the highest score was four. As illustrated by this image, FBN1 variant c.937T > G p.(Cys313Gly) can cause isolated aortic disease. Timely recognition of individuals with a pathogenic FBN1 variant is highly important, as it enables the prevention of severe cardiovascular complications [2, 3].