Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome
Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome
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DOI：
10.1016/j.gene.2013.10.033
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发表时间：
2014-01-15
期刊：
影响因子：
3.5
通讯作者：
van den Berg, Maarten P.
中科院分区：
文献类型：
--
作者：
Aalberts, Jan J. J.;van Tintelen, J. Peter;van den Berg, Maarten P.
马凡氏综合征（MFS）患者的心血管表现与主动脉和瓣膜异常有关。然而，即使没有主动脉手术或瓣膜异常，也可能发生左心室（LV）扩张。我们评估了MFS伴左室扩张患者的遗传特征。研究了182例符合MFS标准的患者，无瓣膜异常或既往主动脉手术史，并进行了完整的FBN 1分析。超过81%的患者发现了FBN 1突变。29名患者（16%）表现出左心室扩张（根据年龄和体表面积校正的左心室舒张末期直径>112%）。携带非错义突变的FBN 1阳性患者比错义突变携带者更常发生LV扩张（14/74 vs 5/75; p < 0.05）。最后，FBN 1阴性的MFS患者比FBN 1阳性的患者更常表现出LV扩张（10/33 vs 19/149; p < 0.05）。得出的结论是，MFS患者的LV扩张在具有非错义突变的患者和没有FBN 1突变的患者中更常见。因此，即使没有瓣膜病变，医生也应该意识到这些患者左心室扩张的可能性。(C)2013 Elsevier B. V.保留所有权利。
Cardiovascular manifestations in patients with Marfan syndrome (MFS) are related to aortic and valvular abnormalities. However, dilatation of the left ventricle (LV) can occur, even in the absence of aortic surgery or valvular abnormalities. We evaluated genetic characteristics of patients with MFS with LV dilatation. One hundred eighty-two patients fulfilling the MFS criteria, without valvular abnormalities or previous aortic surgery, with a complete FBN1 analysis, were studied. FBN1 mutations were identified in over 81% of patients. Twenty-nine patients (16%) demonstrated LV dilatation (LV end diastolic diameter corrected for age and body surface area >112%). FBN1-positive patients carrying a non-missense mutation more often had LV dilatation than missense mutation carriers (14/74 versus 5/75; p < 0.05). Finally, FBN1-negative MFS patients significantly more often demonstrated LV dilatation than FBN1-positive patients (10/33 versus 19/149; p < 0.05). It is concluded that LV dilatation in MFS patients is more often seen in patients with a non-missense mutation and in those patients without an FBN1 mutation. Therefore physicians should be aware of the possibility of LV dilatation in these patients even in the absence of valvular pathology. (C) 2013 Elsevier B.V. All rights reserved.