Background

Mitral valve (MV) prolapse is common in children with Marfan syndrome (MFS) and is associated with varying degrees of mitral regurgitation (MR). However, the three-dimensional (3D) morphology of the MV in children with MFS and its relation to the degree of MR are not known. The goals of this study were to describe the 3D morphology of the MV in children with MFS and to compare it to that in normal children.

Methods

Three-dimensional transthoracic echocardiography was performed in 27 patients (3–21 years of age) meeting the revised Ghent criteria for MFS and 27 normal children matched by age (±1 year). The 3D geometry of the MV apparatus in midsystole was measured, and its association with clinical and two-dimensional echocardiographic parameters was examined.

Results

Compared with age-matched control subjects, children with MFS had larger 3D annular areas (P < .02), smaller annular height/commissural width ratios (P < .001), greater billow volumes (P < .001), and smaller tenting heights, areas, and volumes (P < .001 for all). In multivariate modeling, larger leaflet billow volume in MFS was strongly associated with moderate or greater MR (P < .01). Intra- and interuser variability of 3D metrics was acceptable.

Conclusions

Children with MFS have flatter and more dilated MV annuli, greater billow volumes, and smaller tenting heights compared with normal control subjects. Larger billow volume is associated with MR. Three-dimensional MV quantification may contribute to the identification of patients with MFS and other connective tissue disorders. Further study of 3D MV geometry and its relation to the clinical progression of MV disease is warranted in this vulnerable population.

中文翻译：

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儿童和青壮年马凡氏综合征的三维二尖瓣形态

背景

二尖瓣脱垂在马凡综合征（MFS）儿童中很常见，并且与二尖瓣反流（MR）的程度有关。但是，尚不清楚MFS儿童的MV的三维（3D）形态及其与MR程度的关系。这项研究的目的是描述MFS儿童的MV的3D形态并将其与正常儿童进行比较。

方法

符合修订后的根特MFS标准的27例患者（3-21岁）和27例年龄（±1岁）的正常儿童进行了三维经胸超声心动图检查。测量了心脏收缩期中压装置的3D几何形状，并检查了其与临床和二维超声心动图参数的关系。

结果

与年龄匹配的对照组相比，MFS儿童的3D环形面积更大（P  <.02），环形高度/连合宽度之比更小（P  <.001），翻滚容积更大（P  <.001），帐篷更小高度，面积和体积（ 对于所有P均<0.001）。在多变量建模中，MFS中较大的小叶翻滚体积与中等或较大的MR密切相关（P  <0.01）。3D指标在用户内部和用户之间的可变性是可以接受的。

结论

与正常对照组相比，患有MFS的儿童的MV瓣环更扁平，更扩张，翻滚的容积更大，帐篷的高度更小。更大的滚滚风量与MR有关。三维MV量化可能有助于识别MFS和其他结缔组织疾病的患者。在这个脆弱的人群中，有必要对3D MV几何形状及其与MV疾病的临床进展之间的关系进行进一步研究。