Aortopathy in the 7q11.23 microduplication syndrome

Area of Science:

• Genetics
• Cardiology
• Pediatrics

Background:

• 7q11.23 microduplication syndrome is a genomic disorder with diverse clinical manifestations.
• It arises from a reciprocal duplication of the Williams-Beuren syndrome deletion region.
• Characteristic features include dysmorphic features, developmental delay, and autistic traits.

Observation:

• The elastin (ELN) gene, located in the duplicated region, is associated with vascular phenotypes.
• While Williams-Beuren syndrome is linked to supravalvar aortic stenosis, this study observed aortic dilation in 7q11.23 microduplication syndrome.
• Nine patients (eight pediatric, one adult) with 7q11.23 microduplication syndrome were studied.

Findings:

• All nine patients exhibited aortic dilation, predominantly in the ascending aorta.
• Less frequent dilation was noted at the aortic root and sinotubular junction.
• This vascular phenotype is opposite to the supravalvar aortic stenosis typically seen in Williams-Beuren syndrome.

Implications:

• The findings suggest a strong association between 7q11.23 microduplication syndrome and aortic dilation.
• Cardiovascular surveillance is crucial for patients diagnosed with 7q11.23 microduplication syndrome.
• Understanding this opposite vascular phenotype aids in managing patients with related genomic disorders.