Clinical Exome Sequencing as a Novel Tool for Diagnosing Loeys-Dietz Syndrome Type 3.
Eur J Vasc Endovasc Surg
; 50(6): 816-21, 2015 Dec.
Article
in En
| MEDLINE
| ID: mdl-26409702
ABSTRACT
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.Key words
Full text:
1
Collection:
01-internacional
Health context:
2_ODS3
Database:
MEDLINE
Main subject:
DNA Mutational Analysis
/
Genetic Testing
/
Mutation, Missense
/
Smad3 Protein
/
Loeys-Dietz Syndrome
/
Exome
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Female
/
Humans
/
Pregnancy
Language:
En
Journal:
Eur J Vasc Endovasc Surg
Year:
2015
Document type:
Article