Surgical management of an aortic root dilatation in a patient suffering from Hunter syndrome

Abstract

Hunter syndrome is a rare disease leading to glycosaminoglycan accumulation in tissues. Multiple organs are involved, but prognosis is mainly conditioned by cardiac and respiratory failures. Cardiac valvular impairment is quite common but aortic root dilatation is rarely described. This article covers a case of surgical root replacement due to aortic valve insufficiency and aortic root dilatation documented with magnetic resonance and computed tomography angiographies. Anatomic pathology reported both aortic valve and aorta with mucoid overload and elastic fibre depletion. These patients do have a risk of aortic root dilatation, which justifies periodic monitoring. Diagnosis must be made using indexed measures.

Keywords: Aortic root dilatation; Aortic root replacement; Hunter syndrome.

Figure 1:

Preoperative imaging: (A) aortic valve regurgitation evaluated on echocardiography and (B) sinuses of Valsalva dilatation on computed tomography angiography.

Figure 2:

Pathology panel: (A) Macroscopic view of both aortic valve and aorta; (B) loss and fragmentation of elastic fibres in the aortic media (elastic stain; scale bar: 150 µm); (C) intracellular overload in the aortic media cells (Hematoxylin-eosin stain; scale bar: 50 µm); and (D) intracellular overload in the fibrotic aortic valve (Hematoxylin-eosin stain; scale bar: 150 µm).