Clinical Exome Sequencing as a Novel Tool for Diagnosing Loeys-Dietz Syndrome Type 3.

OBJECTIVE/BACKGROUND:

In rare genetic vascular syndromes the diagnosis may not be apparent from the phenotype, but might be important for proper management.

METHODS:

A previously healthy woman without dysmorphic features presented with pregnancy associated vascular dissections and aneurysms. Next generation clinical exome sequencing was performed.

RESULTS:

The differential diagnosis of spontaneous arterial dissection is outlined. The patient’s diagnosis became evident after clinical exome sequencing detected a novel missense mutation in the evolutionary conserved region of SMAD3, confirming the diagnosis of Loeys-Dietz syndrome (LDS) type 3. A brief overview of the various types of LDS and their management is presented.

CONCLUSION:

Clinical exome sequencing proved useful in diagnosing LDS type 3 where detailed vascular surveillance and timely intervention with a low threshold is recommended.

Copyright © 2015 European Society for Vascular Surgery. Published by Elsevier Ltd. All rights reserved.

Be the first to comment

Leave a Reply

Your email address will not be published.


*