Literature DB >> 31505689

Congenital Lymphatic Malformation and Aortic Aneurysm in a Patient with TSC2 Mutation.

Adelheid Wiemer-Kruel1, Hans Mayer1, Peter Ewert2, Stefan Martinoff3, Hans-Henning Eckstein4, Thomas Kriebel5, John Bissler6,7, David Franz8, Thomas Bast1.   

Abstract

We present a 7-year-old boy with tuberous sclerosis and congenital segmental lymphedema (CSL) of the left leg, as well as two aortic aneurysms. He was treated with everolimus (EVE) since the age of 14 months. His CSL regressed under treatment with EVE. His first aneurysms required operative intervention at age of 17 months. Four months afterward a new aortic aneurysm had been detected above the Dracon graft, but this one remained stable since that time. The patient didn't experience severe side effects. EVE has been well tolerated without disturbance of somatic growth or serious adverse effect. Georg Thieme Verlag KG Stuttgart · New York.

Entities:  

Year:  2019        PMID: 31505689     DOI: 10.1055/s-0039-1694985

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN: 0174-304X            Impact factor:   1.947


  2 in total

Review 1.  New and Emerging Targeted Therapies for Vascular Malformations.

Authors:  An Van Damme; Emmanuel Seront; Valérie Dekeuleneer; Laurence M Boon; Miikka Vikkula
Journal:  Am J Clin Dermatol       Date:  2020-10       Impact factor: 7.403

2.  Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA.

Authors:  Ilse Meerschaut; Wouter Steyaert; Thierry Bové; Katrien François; Thomas Martens; Katya De Groote; Hans De Wilde; Laura Muiño Mosquera; Joseph Panzer; Kristof Vandekerckhove; Lara Moons; Petra Vermassen; Sofie Symoens; Paul J Coucke; Daniël De Wolf; Bert Callewaert
Journal:  Genes (Basel)       Date:  2022-07-07       Impact factor: 4.141

  2 in total

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