Marfan syndrome

Jon Nevin
July 2012

Case studyIt is early afternoon and you have just arrived at a private residence for a 19 year-old male complaining of back pain. Your partner begins taking vital signs as you commence your assessment of the patient. The tall, slender man tells you that he called in sick to work today because he woke up with bad back pain that he had not experienced before, stating that it had become steadily worse throughout the day and that he would have taken to drive himself to the doctor but his car broke down last week.As your partner relays vital signs to you of blood pressure 148/102, heart rate 112, respiratory rate of 24, room air oxygen saturation of 99%, the patient says he has never had this pain before and can’t recall or identify any traumatic cause for the event. The patient hasn’t seen a doctor in a while, but has no history of medical problems, takes no medications and has no allergies.Your exam reveals an anxious, alert and oriented patient, with slightly pale, warm skin. His pupils are PERRL (pupils equal, round, reactive to light) but you do notice a strange appearance of his eyes, they appear disproportionately large and the pupils are asymmetrical, yet reactive. The trachea is midline, no jugular venous distention is present, and lung sounds are clear and equal. The abdomen is soft and non-tender, and you notice nothing abnormal on examination of the back (no tenderness, discolouration or signs of trauma).The patient requests transport to an emergency department for evaluation, and as you are loading him into the ambulance, you endeavour to form a differential diagnosis. Although you are comfortable with the stability of the patient, you continue to ascertain what is causing his symptoms as questioning related to urogenitary causes lead nowhere, nor does a gastrointestinal etiology seem to ft the history of his present illness.You complete a short transport to the ED, and provide supportive care only. No change occurs en route, although the patient does maintain a slight level of anxiety throughout transport and you are struck by the genuine sense of concern the patient is eliciting.On returning to the same ED later in the day and after noticing that the patient is no longer in the room you dropped him off in, you follow up with the attending physician to see what the discharging diagnosis was. You are shocked when the attending physician informs you that he was rushed into surgery an hour ago after an ascending aortic dissection was diagnosed. It turns out he has classic signs of a disease known as Marfan syndrome and therefore was a high risk candidate for aortic catastrophe.

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