Snapshot A 32-year-old woman presents to the emergency department due to developing a severe headache. She reports that her headache is diffuse and felt like a "thunderclap." Her headache is described as 10/10 pain and is associated with nuchal rigidity. Medical history is significant for cervical insufficiency, mitral valve prolapse, and femoral hernias. Family history is notable for aortic dissection and subsequent death of her father. While performing the neurologic exam, there is joint hypermobility and skin hyperextensibility. Non-contrast computerized tomography (CT) scan of the head demonstrates a hyperdense lesion consistent with a subarachnoid hemorrhage. Nimodipine is administered and neurosurgery is consulted. Preparations are made for genetic testing. Introduction Clinical definition login to view 5 more bullets Epidemiology Incidence login to view 2 more bullets Etiology Pathogenesis login to view 13 more bullets Caused by genetic alterations that affect collagen synthesis and processing Genetics login to view 10 more bullets Presentation Symptoms/Physical exam login to view 4 more bullets Studies Making the diagnosis login to view 2 more bullets Differential Marfan syndrome Osteogenesis imperfecta Treatment Management approach login to view 2 more bullets Complications Vascular EDS login to view 6 more bullets Valvular involvement may require cardiac valve replacement