3D Printed Personalized External Aortic Root Model in Marfan Syndrome with Isolated Sinus of Valsalva Aneurysm Caused by a Novel Pathogenic FBN1 p.Gly1127Cys Variant.

ABSTRACT: The major cause of death in Marfan syndrome (MFS) is cardiovascular complications, particularly progressive dilatation of the proximal aorta, rendering these patients at risk of aortic dissection or fatal rupture. We report a 3D printed personalized external aortic root model for MFS with an isolated sinus of Valsalva aneurysm caused by a novel pathogenic FBN1 variant. A 67-year-old female with a history of lens dislocation and retinal detachment in the left eye was admitted for the evaluation of resting dyspnea several months prior. Transesophageal and transthoracic echocardiography revealed severe aortic valve regurgitation and a large left coronary sinus of Valsalva aneurysm in the proband. Sanger sequencing identified a heterozygous p.Gly1127Cys variant in the FBN1 gene; previously, a

SUBMITTER: Cho JS 

PROVIDER: S-EPMC8227084 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature