210Marfan syndrome and bicuspid aortic valve: what is the main dilatation phenotype?


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Abstract

Marfan syndrome (MS) and bicuspid aortic valve (BAV) are two congenital conditions associated with aortic dilatation but with different types of involvement. While in BAV, aortic dilatation usually affects proximal ascending aorta, in MS aortic dilatation involves more often aortic root. Nevertheless, the type of aortic dilatation is not known when both entities concur.Purpose: to analyze anatomical characteristics of aortic dilatation in patients with MS and BAV.Methods: Of 270 MS patients according to Ghent criteria followed in our unit, 7 (2.6%) with BAV were included in the study (7-31 years, 4 males). This group was compared with an age-matched group of patients with BAV (n = 60, 15–43 years, 41 males). All patients underwent a transthoracic echocardiographic examination. The phenotype of the BAV was classified as: type I, when there was left and right coronary cusp fusion; type II, right and noncoronary cusp fusion and type III, noncoronary and left cups fusion. Aortic diameter was measured at 5 points along the course of the ascending and descending aorta: aortic annulus, sinus of Valsalva, maximum diameter of the ascending aorta, aortic arch, and takeoff of the left subclavian artery. Findings of both groups were compared.Results: The most common BAV phenotype in both groups was type I (MS 6, BAV 44). In MS, the prevalence of dilatation at sinuses of Valsalva was higher than in BAV group: 71% vs. 23% (MS 38 ± 17, range 24-73 mm; BAV 31 ± 6, range 19-50 mm). The prevalence of dilatation of ascending aorta was 27% (n = 16) in BAV group. No patient in MS group had dilatation of ascending aorta. Moderate-severe aortic insufficiency was present in 22 BAV (37%) and in 2 MS (29%). Aortic stenosis was present in 15 BAV (25%). No patient with MS had aortic stenosis.Conclusions: Prevalence of BAV in MS patients is similar to general population. Patients with MS and BAV have an aortic dilatation phenotype different to those patients with isolated BAV, prevailing MS typical involvement of the aortic root.

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