Literature DB >> 28286188

Endovascular Repair of Internal Mammary Artery Aneurysms in 2 Sisters with SMAD3 Mutation.

Daiva Nevidomskyte1, Sherene Shalhub2, Gabriel S Aldea3, Peter H Byers4, Ulrike Schwarze5, Mitzi L Murray4, Benjamin Starnes2.   

Abstract

True aneurysms of the internal mammary artery are rare and have been described in association with vasculitis or connective tissue disorders. Herein, we describe 2 cases of familial internal mammary artery aneurysms (IMAs) in 2 sisters with SMAD3 mutation. The older sister presented at the age of 54 years with an incidental diagnosis of a multilobed right IMA and the younger sister presented several years earlier with a ruptured left IMA aneurysm at the age of 49 years. Both sisters had Debakey type I aortic dissections prior to the IMA aneurysm presentation. To our knowledge, this is the first time IMA aneurysms have been described in siblings with SMAD3 mutation. In our experience, endovascular repair is a feasible and safe treatment option. An assessment of the entire arterial tree is recommended in patients diagnosed with SMAD3 mutations.
Copyright © 2017 Elsevier Inc. All rights reserved.

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Year:  2017        PMID: 28286188     DOI: 10.1016/j.avsg.2016.10.048

Source DB:  PubMed          Journal:  Ann Vasc Surg        ISSN: 0890-5096            Impact factor:   1.466


  5 in total

1.  Endovascular treatment of left internal thoracic artery aneurysm.

Authors:  Milton Sérgio Bohatch; Tércio Tanure; André Luiz de Oliveira; Maurício Serra Ribeiro; Edwaldo Edner Joviliano
Journal:  J Vasc Bras       Date:  2020-08-31

2.  A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.

Authors:  Dorien Schepers; Giada Tortora; Hiroko Morisaki; Gretchen MacCarrick; Mark Lindsay; David Liang; Sarju G Mehta; Jennifer Hague; Judith Verhagen; Ingrid van de Laar; Marja Wessels; Yvonne Detisch; Mieke van Haelst; Annette Baas; Klaske Lichtenbelt; Kees Braun; Denise van der Linde; Jolien Roos-Hesselink; George McGillivray; Josephina Meester; Isabelle Maystadt; Paul Coucke; Elie El-Khoury; Sandhya Parkash; Birgitte Diness; Lotte Risom; Ingrid Scurr; Yvonne Hilhorst-Hofstee; Takayuki Morisaki; Julie Richer; Julie Désir; Marlies Kempers; Andrea L Rideout; Gabrielle Horne; Chris Bennett; Elisa Rahikkala; Geert Vandeweyer; Maaike Alaerts; Aline Verstraeten; Hal Dietz; Lut Van Laer; Bart Loeys
Journal:  Hum Mutat       Date:  2018-03-06       Impact factor: 4.878

Review 3.  Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature.

Authors:  Bertrand Chesneau; Thomas Edouard; Yves Dulac; Hélène Colineaux; Maud Langeois; Nadine Hanna; Catherine Boileau; Pauline Arnaud; Nicolas Chassaing; Sophie Julia; Guillaume Jondeau; Aurélie Plancke; Philippe Khau Van Kien; Julie Plaisancié
Journal:  Mol Genet Genomic Med       Date:  2020-03-10       Impact factor: 2.183

4.  Coil embolization of bilateral internal mammary artery aneurysms in the setting of a heterozygous missense variant of unknown significance in COL5A1 and fibromuscular dysplasia.

Authors:  Julia Fayanne Chen; Dimitra Papanikolaou; Arash Fereydooni; Hamid Mojibian; Alan Dardik; Naiem Nassiri
Journal:  J Vasc Surg Cases Innov Tech       Date:  2019-09-20

5.  Case Report: Morphological Characterization and Long-Term Observation of Bilateral Sequential Internal Mammary Artery Aneurysms in a Patient With Confirmed FBN1 Mutation.

Authors:  Roland Stengl; Bence Ágg; Bálint Szilveszter; Kálmán Benke; Noémi Daradics; Bernadett Ruskó; Borbála Vattay; Béla Merkely; Miklós Pólos; Zoltán Szabolcs
Journal:  Front Cardiovasc Med       Date:  2021-06-16
  5 in total

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