The Loeys–Dietz syndrome (LDS) is a connective tissue disorder affecting the cardiovascular, skeletal, and ocular system. Most typically, LDS patients present with aortic aneurysms and arterial tortuosity, hypertelorism, and bifid/broad uvula or cleft palate. Initially, mutations in transforming growth factor‐β (TGF‐β) receptors (TGFBR1 and TGFBR2) were described to cause LDS, hereby leading to impaired TGF‐β signaling. More recently, TGF‐β ligands, TGFB2 and TGFB3, as well as intracellular downstream effectors of the TGF‐β pathway, SMAD2 and SMAD3, were shown to be involved in LDS. This emphasizes the role of disturbed TGF‐β signaling in LDS pathogenesis. Since most literature so far has focused on TGFBR1/2, we provide a comprehensive review on the known and some novel TGFB2/3 and SMAD2/3 mutations. For TGFB2 and SMAD3, the clinical manifestations, both of the patients previously described in the literature and our newly reported patients, are summarized in detail. This clearly indicates that LDS concerns a disorder with a broad phenotypical spectrum that is still emerging as more patients will be identified. All mutations described here are present in the corresponding Leiden Open Variant Database.

Data fusion is an important tool for improving the performance of a detection system when more than one classifier is available. The reasoning logic of DempsterShafer evidence theory for fusion is similar to that of humans. This paper discusses application ofa data fusion method which is based on improvements to the DempsterShafer theory, to echocardiographic images in order to increase the detection accuracy of the endocardial contours. In this paper, edge and region based level sets are implemented. The Improved Dempster-Shafer evidence fusion algorithm is applied to combine the detected contours resulting in promising results as shown by computational experiments.

Having optimal maternal and neonatal outcomes for pregnant women with Marfan syndrome depends on a highly responsive and coordinated team effort, including meticulous planning for a vascular catastrophe.

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