Useful links (health professionals)
Information on Marfan Syndrome (from the National Marfan Foundation)
http://www.marfan.org/marfan/2286/Healthcare-and-Scientific Professionals/
Disorders to consider in the differential diagnosis of Marfan Syndrome (from the Canadian Marfan Association).
http://www.marfan.ca/content/view/62/25/
2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the diagnosis and management of patients with thoracic aortic disease: A report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society of Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine.
http://circ.ahajournals.org/cgi/content/full/121/13/e266
Gene reviews: thoracic aortic aneurysm and dissection
http://www.ncbi.nlm.nih.gov/books/NBK1120/
FAQ’s (health professionals)
I would like to refer a patient to the CTC – what is your contact information?
Maritime Connective Tissue Clinic
2102-1796 Summer St.
Halifax, NS
B3H 3A7
Phone: (902) 473-1945
Fax: (902) 473-2434
What patients should be referred to the CTC? We see patients with a broad range of hereditary aneurysm syndromes and connective tissue disorders. In addition anyone with a family history of aneurysms and/or sudden death of young adults should be considered for referral. We also see and follow patients with bicuspid aortic valves (BAV) and BAV spectrum aortopathy and vasculopathy. If you wish to speak to someone at the Maritime CTC to determine if your patient should be referred please contact the Maritime CTC medical coordinator Dr Gabrielle Horne.
A patient in my practice died suddenly of an aortic dissection. Should the family members be checked for aortic disease? Absolutely. In this situation we do recommend specialist CTC assessment of at risk family members. We can meet with families at short notice in crisis situations. We can work with the pathologist or coroner to assist with diagnosis of the underlying condition. We will do everything we can to assist in avoiding another tragedy in the family.
I am seeing a young patient in the Emergency room with chest pain and a family history of aortic aneurysms. The patient does not have any typical features of Marfan syndrome. Do I need to be concerned about an aortic dissection? Yes. Patients with typical features of Marfan Syndrome are only a small subset of all patients with hereditary aneurysm syndromes. It is important to have a high index of suspicion for aortic dissection in anyone with a family history of aortic aneurysms. The symptoms of aortic dissection can be atypical. Aneurysms can present at very variable ages in members of the same family. If in doubt call your nearest cardiac surgical center.
I have a pregnant patient who was at one point suspected of having Marfan syndrome. Should I be concerned? Much has changed over the last 5-10 years in our understanding of how to diagnose Marfan syndrome and related hereditary aneurysm syndromes and connective tissue disorders. Pregnancy carries significant risks in many of these disorders. If there is any uncertainty about the underlying diagnosis it is important that this be addressed promptly in a pregnant patient. Any patient with Marfan syndrome, a dilated aorta, a hereditary aneurysm syndrome, or a connective tissue disorder with vascular involvement will require specialist multidisciplinary care in pregnancy.
I saw a 35 year old man for benign palpitations. I did an echo to rule out structural heart disease and it turns out he has aortic root dilatation at 4.5cm. He doesn’t have any signs of a connective tissue disorder. I was going to wait until the root reached 5.0cm and then send him to a surgeon. Is that OK? Given that he has quite significant aortic root dilatation at an early age, he is highly likely to have a genetic tendency to aneurysm formation. The extravascular signs of hereditary aneurysm syndromes can be subtle or absent. Our understanding of the genetics and management of this situation is evolving rapidly. The optimal timing of surgery may depend on the particular family history, the underlying genetic diagnosis if this is available, and other patient specific factors, as well as the size of the aortic root. If possible the patient should be considered for valve sparing surgery. In addition, the patient’s first degree relatives need to be screened for aortic aneurysms. Hereditary aneurysm syndromes can present at very variable ages within the same family. We recommend that patients affected by hereditary aneurysm syndromes be managed by clinicians with experience in this area.
