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An unusual case of aortic regurgitation and LVOT obstruction secondary to valve fibromuscular metaplasia and leaflet delamination

Anna Balducci, Michela Molisana, Daniela Palleri, Cristina Ciuca, Ylenia Bartolacelli, Valentina Gesuete, Lucio Careddu, Emanuela Angeli, Andrea Donti, Gaetano Domenico Gargiulo

Background: Aortic regurgitation and LVOT obstruction are two aspects of valvular and sub valvular apparatus disease which can seriously impair left ventricle function. An association between mutations in the TGF-β pathway and deformation in the geometry of the aortic wall is recognized and a role of TGF-β overexpression in the development of lens opacity in patients with congenital cataract is reported.

Case presentation: This case describes a peculiar aetiology of severe aortic regurgitation and LVOT obstruction in a young adult with bilateral congenital cataract and uncontrolled hypertension, who presented with heart failure and was found to have aortic valve degeneration with fibromuscular metaplasia and leaflet delamination.

Conclusion: An anomalous TGFβ pathway associated with congenital forms of cataract could explain the fibromuscular metaplasia of the aortic valve in presence of stress agents such as uncontrolled hypertension. More in vitro and in vivo studies are needed to confirm this theory.