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Cardiogenetics
Volume 5
Issue 1
10.4081/cardiogenetics.2015.5251
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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

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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

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