A Blinc1, A Maver2, G Rudolf2, J Tasič3, J Pretnar Oblak4, P Berden5, B Peterlin6. 1. Department of Vascular Diseases, University of Ljubljana Medical Centre, Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Slovenia. Electronic address: ales.blinc@kclj.si. 2. Clinical Institute for Medical Genetics, Division of Gynecology, University of Ljubljana Medical Centre, Ljubljana, Slovenia. 3. Department of Cardiology, Division of Internal Medicine, University of Ljubljana Medical Centre, Ljubljana, Slovenia. 4. Department of Vascular and Intensive Care Neurology, Division of Neurology, University of Ljubljana Medical Centre, Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Slovenia. 5. Clinical Institute of Radiology, University of Ljubljana Medical Centre, Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Slovenia. 6. Clinical Institute for Medical Genetics, Division of Gynecology, University of Ljubljana Medical Centre, Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Slovenia.
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.
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.