Clinical Exome Sequencing as a Novel Tool for Diagnosing Loeys-Dietz Syndrome Type 3. Issue 6 (December 2015)

• Record Type: Journal Article
• Authors: Blinc, A.; Maver, A.; Rudolf, G.; Tasič, J.; Pretnar Oblak, J.; Berden, P.; Peterlin, B.
• Is Part Of: European journal of vascular and endovascular surgery. Volume 50:Issue 6(2015:Dec.)
• Page Start: 816
• Page End: 821
• Publication Date: 2015-12
• Subjects: Aneurysm -- Clinical exome sequencing -- Loeys-Dietz syndrome -- Pregnancy -- Spontaneous arterial dissection; Blood-vessels -- Endoscopic surgery -- Periodicals; Blood-vessels -- Surgery -- Periodicals; Vascular Surgical Procedures -- Periodicals; Vascular Surgical Procedures -- methods -- Periodicals; Vaisseaux sanguins -- Chirurgie -- Périodiques; Vaisseaux sanguins -- Chirurgie endoscopique -- Périodiques; Blood-vessels -- Endoscopic surgery; Blood-vessels -- Surgery; Endoscopy; Electronic journals; Periodicals; Electronic journals; 617.413005
• DOI: 10.1016/j.ejvs.2015.08.003
• Languages: English
• ISSNs: 1078-5884

Abstract

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.