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A Rabbit Aortic Valve Stenosis Model Induced by Direct Balloon Injury
Published on: March 31, 2023
FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease
Caroline Ovaert1,2, Tiffany Busa2,3, Emilie Faure2
1Department of Pediatric and Congenital Cardiology, Timone Enfant, AP-HM, Marseille, France.
Abstract:
6p25 deletion is a rare but well-known entity. The main clinical features include an abnormal facial appearance, developmental delay, and ocular anomalies. Cardiac anomalies are frequently seen but remain poorly delineated. We describe a 4-year-old girl with 6p25.3 deletion, which includes the FOXC1 gene, typical dysmorphic features associated with developmental delay and oculo-motor anomalies. Aortic valve dysplasia was diagnosed early in life. The cardiac lesion progressed very rapidly between the age of 3 and 4 years requiring aortic valve replacement. Genomic analysis of blood and excised valve tissue showed down-regulation of FOXC1 but also FOXC2 expression in the diseased aortic valve. This allows us to speculate on the potential role of FOXC1 in aortic valve anomalies.
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