Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome

Figure 2

Echocardiography and computed tomography angiography findings for patients. (a) Transthoracic echocardiography at first diagnosis, showing a slight aortic root dilatation (arrow), mild aortic regurgitation (AR, arrow), and mild mitral regurgitation (MR, arrow) of proband in pedigree 1. (b) Aortography results after first checkup at 2 months. Transthoracic echocardiography at first diagnosis of proband in pedigree 2, showing a remarkable aortic root dilatation (arrow), massive aortic regurgitation, and mild mitral regurgitation (arrow). (d) Preoperative (top) and postoperative (bottom) transthoracic echocardiography of individual II: 6 in pedigree 2. Preoperative echocardiographic characteristics (top) showed a remarkable aortic root dilatation (arrow), massive aortic regurgitation, and mitral regurgitation (arrow). Transthoracic echocardiography after the first cardiac surgery (bottom) showed a moderate mitral periprosthetic leak (arrow) and still enlarged left ventricle despite a replaced artificial double valve (DVR).

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