Next Article in Journal
Clinical Mass Spectrometry in Heart Disease
Previous Article in Journal
Patent Ductus Arteriosus and Pulmonary Artery Aneurism in a Child Affected by Loeys-Dietz Syndrome
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
Cardiogenetics
Volume 5
Issue 1
10.4081/cardiogenetics.2015.5251
cardiogenetics-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles thumb_up
...
Endorse textsms
...
Comment
Cardiogenetics is published by MDPI from Volume 10 Issue 2 (2020). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
Article

A Post Mortem Assessment of a 25-Year-Old Man with Ascending Aortic Dissection and a Novel MYLK Variant

by
Katelyn Hodge
1,
Katherine G. Spoonamore
2,
Christopher B. Griffith
1,
David D. Weaver
1,
Patricia B.S. Celestino-Soper
1,
Ty C. Lynnes
1,
Hongyu Gao
3,4,
Yunlong Liu
1,3,4 and
Matteo Vatta
1,2,*
1
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA
2
Krannert Institute of Cardiology, Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA
3
Center for Computational Biology and Bioinformatics, Indiana University School of Medicine, Indianapolis, IN, USA
4
Bioinformatics Program, Indiana University School of Informatics, Indianapolis, IN, USA
*
Author to whom correspondence should be addressed.
Cardiogenetics 2015, 5(1), 5251; https://doi.org/10.4081/cardiogenetics.2015.5251
Submission received: 28 April 2015 / Revised: 26 June 2015 / Accepted: 30 June 2015 / Published: 30 October 2015

Abstract

We report on the process of post mortem evaluation and genetic testing following the death of a 25-year-old man due to ascending aortic dissection leading to aortic rupture. Following the negative clinical testing of a 12- gene thoracic aortic aneurysm and dissection panel, research testing revealed a novel c.5732A>T (p.E1911V) variant in exon 34 of the MYLK gene (NM_053025). Two likely pathogenic variants in this gene have been reported previously in individuals with familial thoracic aortic aneurysm and dissection. Given the unclear clinical consequence of the variant found in our proband, we have classified this change as a variant of uncertain significance. In addition to discussing the complexity involved in variant interpretation, we recognize the need for additional research for more accurate MYLK interpretation. Finally, we comment on the unique challenges of post mortem genetic testing.
Keywords: MYLK; familial thoracic aortic aneurysm and dissection; post mortem genetic testing; aortopathy MYLK; familial thoracic aortic aneurysm and dissection; post mortem genetic testing; aortopathy

Share and Cite

MDPI and ACS Style

Hodge, K.; Spoonamore, K.G.; Griffith, C.B.; Weaver, D.D.; Celestino-Soper, P.B.S.; Lynnes, T.C.; Gao, H.; Liu, Y.; Vatta, M. A Post Mortem Assessment of a 25-Year-Old Man with Ascending Aortic Dissection and a Novel MYLK Variant. Cardiogenetics 2015, 5, 5251. https://doi.org/10.4081/cardiogenetics.2015.5251

AMA Style

Hodge K, Spoonamore KG, Griffith CB, Weaver DD, Celestino-Soper PBS, Lynnes TC, Gao H, Liu Y, Vatta M. A Post Mortem Assessment of a 25-Year-Old Man with Ascending Aortic Dissection and a Novel MYLK Variant. Cardiogenetics. 2015; 5(1):5251. https://doi.org/10.4081/cardiogenetics.2015.5251

Chicago/Turabian Style

Hodge, Katelyn, Katherine G. Spoonamore, Christopher B. Griffith, David D. Weaver, Patricia B.S. Celestino-Soper, Ty C. Lynnes, Hongyu Gao, Yunlong Liu, and Matteo Vatta. 2015. "A Post Mortem Assessment of a 25-Year-Old Man with Ascending Aortic Dissection and a Novel MYLK Variant" Cardiogenetics 5, no. 1: 5251. https://doi.org/10.4081/cardiogenetics.2015.5251

APA Style

Hodge, K., Spoonamore, K. G., Griffith, C. B., Weaver, D. D., Celestino-Soper, P. B. S., Lynnes, T. C., Gao, H., Liu, Y., & Vatta, M. (2015). A Post Mortem Assessment of a 25-Year-Old Man with Ascending Aortic Dissection and a Novel MYLK Variant. Cardiogenetics, 5(1), 5251. https://doi.org/10.4081/cardiogenetics.2015.5251

Article Metrics

Back to TopTop