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

In rare genetic vascular syndromes the diagnosis may not be apparent from the phenotype, but might be important for proper management.A previously healthy woman without dysmorphic features presented with pregnancy associated vascular dissections and aneurysms. Next generation clinical exome sequencing was performed.The differential diagnosis of spontaneous arterial dissection is outlined. The patient's diagnosis became evident after clinical...