Novel Insights Aortic Root Dilatation in an Individual with 3p21.31 Deletion.

Introduction: Interstitial deletions in 3p21.31 are rare and have been associated with developmental delay, intellectual disability, and facial dysmorphism. To our knowledge, there are no reported individuals with a 3p21.31 interstitial deletion associated with aortic root dilatation.

Case presentation: We report a 2-year-old girl with 3p21.31p14.3 deletion, aortic root dilatation, global developmental delay, hypotonia, and distinctive facial features. The size of this interstitial deletion is 6.8 Mb and it encompasses 120 genes. None of these genes have a known association with aortic complications. A custom gene panel of 37 genes associated with familial thoracic aortic aneurysm did not identify a known monogenic cause of aortic dilatation in this individual.

Conclusion: This case represents an expansion of the phenotypic spectrum associated with 3p21.31 deletions, highlighting the novel association with aortic root dilatation. Further studies are needed to explore potential mechanisms linking this chromosomal deletion to vascular complications.