Role of fibrillin-1 genetic mutations and polymorphism in aortic dilatation in patients undergoing intracardiac repair of tetralogy of Fallot

Our findings indicate the existence of “exonic DNA variants” involving the fibrillin-1 gene in 1 or more exons (exon 24-28). The “DNA sequence variants” are more pronounced in patients with tetralogy of Fallot and dilated aorta in the presence of abnormal aortic histopathology.