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12-06-2019 | Heart Beat | Uitgave 12/2019 Open Access

Netherlands Heart Journal 12/2019

Hereditary thoracic aortic disease associated with cysteine substitution c.937T > G p.(Cys313Gly) in FBN1

Netherlands Heart Journal > Uitgave 12/2019
E. Overwater, K. Van Rossum, M. J. H. Baars, A. Maugeri, A. C. Houweling
A 56-year-old male was diagnosed with a type A aortic dissection, followed by a type B dissection 3 years later. There were no other signs indicating a familial connective tissue disorder. Pathogenic variant c.937T > G p.(Cys313Gly) in FBN1 [(NM_000138.4), Online Mendelian Inheritance in Man (OMIM) entry *134797] was identified by DNA testing, consistent with Marfan syndrome (OMIM entry #154700). The variant was identified in 21 out of 53 tested relatives (Fig.  1). A thoracic aortic aneurysm was diagnosed in eight relatives carrying the variant, three of whom met the criteria for preventive surgery. One of the deceased obligate carriers probably had a thoracic aortic aneurysm. Most mutation carriers had a systemic score [ 1] of zero or one, although the highest score was four. As illustrated by this image, FBN1 variant c.937T > G p.(Cys313Gly) can cause isolated aortic disease. Timely recognition of individuals with a pathogenic FBN1 variant is highly important, as it enables the prevention of severe cardiovascular complications [ 2, 3].

Conflict of interest

E. Overwater, K. Van Rossum, M.J.H. Baars, A. Maugeri and A.C. Houweling declare that they have no competing interests.

Ethical standards

Written informed consent for publication was obtained from all the carriers of FBN1 variant c.937T > G p.(Cys313Gly).
Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://​creativecommons.​org/​licenses/​by/​4.​0/​), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.

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Netherlands Heart Journal

Het Netherlands Heart Journal wordt uitgegeven in samenwerking met de Nederlandse Vereniging voor Cardiologie en de Nederlandse Hartstichting. Het tijdschrift is Engelstalig en wordt gratis beschikbaa ...

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