Marfan’s syndrome

TL;DR: Guidelines and Expert Consensus Documents aim to present management recommendations based on all of the relevant evidence on a particular subject in order to help physicians select the best possible management strategies for the individual patient suffering from a specific condition, taking into account the impact on outcome and also the risk–benefit ratio of a particular diagnostic or therapeutic procedure.

TL;DR: The past five years have seen many scientific and biological discoveries made through the experimental design of genome-wide association studies (GWASs), which were aimed at detecting variants at genomic loci that are associated with complex traits in the population and, in particular, at detecting associations between common single-nucleotide polymorphisms (SNPs) and common diseases such as heart disease, diabetes, auto-immune diseases, and psychiatric disorders.

TL;DR: An additional cohort of 40 patients who had vascular Ehlers–Danlos syndrome without the characteristic type III collagen abnormalities or the craniofacial features of the Loeys–Dietz syndrome were screened and a mutation in TGFBR1 or TGF BR2 was found.

TL;DR: This analysis strongly supports careful radiologic follow-up and elective, preemptive surgical intervention for the otherwise lethal condition of large thoracic aortic aneurysm.

TL;DR: Experience with surgical management of 179 patients with dissecting aneurysms of the aorta during the past decade has allowed development of certain conceptual changes and new methods of operative treatment based on a better understanding of the anatomic and pathologic patterns of the disease.

TL;DR: The Marfan syndrome is a dominantly inherited disorder of connective tissue with multisystem involvement and the cardiac complications, particularly aortic dilatation, dissection and rupture ...

TL;DR: A group of experts participated in a Workshop held during the 7th International Congress of Human Genetics, Berlin, in September, 1986 as discussed by the authors, where overviews were given of the uses and limitations of nosology, diagnostic criteria (Pyeritz), and practical issues in biochemical and molecular diagnosis.