Diagnosis and management of acute complications associated with Marfan syndrome: Pitfalls in the emergency setting

Abstract

The complications of Marfan syndrome (MFS), which may present as medical emergencies, are well recognised [1–3] and include aortic dissection/rupture, pneumothorax, retinal detachment, lens dislocation and joint dislocation. The optimum management of these complications has also been well described. Some of the above-mentioned complications are life-threatening, the most notorious being aortic dissection. If this condition is undiagnosed the early mortality is 1 % per each hour delay [4, 5]. The outcome is proportional to the time spent in making the diagnosis and moving the patient from the Emergency Department to the operating room. Unfortunately establishing the diagnosis of aortic dissection/rupture in the Emergency Department proves difficult, leading to avoidable mortality and morbidity. We have attempted in this chapter to highlight some of the pitfalls in the diagnosis. Our objective is that these complications will be recognised in a timely manner so that patients are moved to the appropriate facility with the least possible delay.