title: Clinical Exome Sequencing as a Novel Tool for Diagnosing Loeys-Dietz Syndrome Type 3.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  Clinical exome sequencing proved useful in diagnosing LDS type 3 where detailed vascular surveillance and timely intervention with a low threshold is recommended.
authors.affiliation: Department of Vascular Diseases, University of Ljubljana Medical Centre, Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Slovenia. Electronic address: ales.blinc@kclj.si.
authors.forename: A
authors.initials: A
authors.lastname: Blinc
authors.affiliation: Clinical Institute for Medical Genetics, Division of Gynecology, University of Ljubljana Medical Centre, Ljubljana, Slovenia.
authors.forename: A
authors.initials: A
authors.lastname: Maver
authors.affiliation: Clinical Institute for Medical Genetics, Division of Gynecology, University of Ljubljana Medical Centre, Ljubljana, Slovenia.
authors.forename: G
authors.initials: G
authors.lastname: Rudolf
authors.affiliation: Department of Cardiology, Division of Internal Medicine, University of Ljubljana Medical Centre, Ljubljana, Slovenia.
authors.forename: J
authors.initials: J
authors.lastname: Tasič
authors.affiliation: Department of Vascular and Intensive Care Neurology, Division of Neurology, University of Ljubljana Medical Centre, Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Slovenia.
authors.forename: J
authors.initials: J
authors.lastname: Pretnar Oblak
authors.affiliation: Clinical Institute of Radiology, University of Ljubljana Medical Centre, Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Slovenia.
authors.forename: P
authors.initials: P
authors.lastname: Berden
authors.affiliation: Clinical Institute for Medical Genetics, Division of Gynecology, University of Ljubljana Medical Centre, Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Slovenia.
authors.forename: B
authors.initials: B
authors.lastname: Peterlin
mesh_terms: D017023:Coronary Angiography; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D059472:Exome; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D018810:Magnetic Resonance Angiography; D020125:Mutation, Missense; D010641:Phenotype; D011237:Predictive Value of Tests; D011247:Pregnancy; D011379:Prognosis; D051900:Smad3 Protein / Q000235:genetics*
chemical_list: C497790:SMAD3 protein, human; D051900:Smad3 Protein
keywords: Aneurysm; Clinical exome sequencing; Loeys-Dietz syndrome; Pregnancy; Spontaneous arterial dissection