Knowing that you have Marfan syndrome puts you at an advantage in the event that you experience unexplained chest, back, or abdominal pain. A person that does not know they have the disorder may not be treated with the same urgency as those known to be at increased risk of aortic dissection. However, since emergency departments may be very busy and knowledge about Marfan syndrome may vary greatly, it is still possible that you may need to advocate for yourself should you experience these symptoms.
In March of 2010, the American Heart Association and the American College of Cardiology release Guidelines for Diagnosis and Management of Patients with Thoracic Aortic Disease. The Thoracic Aortic Disease Coalition, convened by the NMF, subsequently released Ritter Rules, named for the late John Ritter, to help people understand their risk for aortic dissection.
People with Marfan syndrome are at up to 250 times greater risk of aortic dissection than the general population.
Although aortic dissection is uncommon, it is not rare. However, when it is does occur, it is commonly catastrophic. Based on available medical information, there are probably 5,000-10,000 dissections a year in the United States. However, the number may be underreported since dissections that do not result in death or cardiovascular surgery may be recorded under a different diagnosis, such as chest or abdominal pain. The number of dissections may be also underreported because so few autopsies are conducted, and many deaths are attributed to "heart attack" or "sudden death," when the cause is actually a dissection.
Unless someone has a known diagnosis of Marfan syndrome—a genetic disorder of connective tissue—or very obvious physical characteristics that would indicate Marfan syndrome or another predisposing condition, aortic dissection would rarely be the first diagnostic consideration for an emergency room patient with chest pain. The misdiagnosis of people with clear characteristics of Marfan syndrome further compounds this problem.
Be sure that you are prepared to advocate for yourself by communicating effectively with doctors and nurses in the emergency department.
The following are important tips to help you communicate effectively with emergency department staff to assure you receive appropriate care.
Complete the Emergency Information Packet Template
Prior to any emergency, complete the Emergency Information Packet Template and bring it with you to the Emergency Department should the need arise.
Bring Information About Marfan Syndrome to the Emergency Department
The Emergency Information Packet includes fact sheets on Marfan syndrome which can be given to hospital staff to ensure they understand the disorder and its link to aortic dissection. Fact sheets are also available from this website. The NMF has created an Emergency Alert Card for you to carry which identifies you as a person with Marfan syndrome or a related disorder and being at increased risk for aortic dissection. The card also identifies the proper tests the hospital should do to rule out aortic dissection.
Describe the Pain Completely
Be prepared to answer the following questions. If your doctor does not ask, speak up and tell him/her anyway.
- Where is the pain located?
- How severe is the pain?
- When did it start?
- What does the pain feel like?
- Does the pain radiate (move) to other areas of the body (e.g. the back, neck or arms)
- Is this kind of pain like anything you have ever felt before?
Express a Sense of Urgency
Emphasize to the nurse or doctor that you:
- Have Marfan syndrome
- Are at high risk for aortic dissection
- Are concerned about this pain being from a dissection
The Emergency Alert Card can help you with this.
Provide your doctor’s name and phone number and have them call at once for any additional information that may be needed for your treatment.
Wear a Medical Alert Bracelet
Medical alert bracelets are helpful, especially if you are unable to provide any medical history. The bracelet can relate a few key words or phrases that may be helpful to emergency department personnel. People with Marfan syndrome might want to include on their bracelet: Marfan syndrome, aortic aneurysm, risk for aortic dissection, heart valve, Coumadin. Talk to your doctor about what is most appropriate for you to put on your bracelet.
Be Familiar with Tests that Confirm or Rule Out a Diagnosis of Aortic Dissection
The diagnostic test used to confirm aortic dissection should be that test which the specific institution can perform in the most timely and accurate manner. This is usually a CT scan of the chest with IV contrast or a transesophageal echocardiogram. An MRI is occasionally used as a first test. If the patient has an allergy to IV dye, shellfish or Iodine this should be mentioned to the emergency department personnel. It is important to remember that a chest x-ray is often not diagnostic for aortic dissection and, if dissection is suspected, a normal chest x-ray should not deter further evaluation.
You might want to interview hospitals in your area to find out if they are able to offer the appropriate tests easily in the emergency deparment, and if they are equipped to perform emeregency cardiac surgery should it be necessary. The NMF offers a Hopsital Interview Form to guide you through this process.
Family Members Can Be Helpful. Prepare Family Members to be Your Advocate Before an Emergency Arises.
Family members can tell the emergency department personnel about health conditions of the patient, especially his or her experience with Marfan syndrome, aortic aneurysm, prior dissection or heart surgery, medications and anything they know about the patient’s presenting symptoms. They can also provide the name and number for the patient’s doctor for obtaining further medical information. Make sure your family has this information should you be unable to communicate in an emergency situation.
Express Your Concerns to Emergency Department Personnel
It can be intimidating to be in an emergency department with pain. Remember to tell the doctor all you can about your symptoms. If you feel that you are not being taken seriously, tell the doctor again. If you are in a large emergency department, you can ask for another doctor to see you for another opinion.