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National conference to focus on educating patients and physicians about genetic aortic diseases

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Dr. Maral Ouzounian, cardiac surgeon, Peter Munk Cardiac Centre, is leading a national conference, co-hosted by PMCC and the Genetic Aortic Disorders Association of Canada (GADA). (Video: PMCC/UHN)
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With a growing focus on and increased surgical and scientific expertise in the field of aortic research, diagnosis and treatment – both nationally and globally – the Peter Munk Cardiac Centre (PMCC) will co-host a national conference this week with the Genetic Aortic Disorders Association of Canada (GADA).

The aim is to educate patients and physicians from a varied array of disciplines, on the silent, treatable but often fatal diseases of the aorta – more and more of which are genetic.

Dr. Maral Ouzounian, cardiac surgeon, Peter Munk Cardiac Centre and Assistant Professor of Surgery, University of Toronto, is leading the Heritable Aortic Disease Conference, being held Friday and Saturday at the BMO Conference Centre at Toronto Western Hospital. 


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Shaped like a candy cane and as thick as a typical garden hose, the aorta is the principal blood vessel in the body, distributing blood from the heart elsewhere throughout the body.​

A spate of scientific discoveries in the last 10-plus years has uncovered as many as 20 genetic mutations with a direct link to an aortic aneurysm or aortic dissection. Prior to that, only one known link – to  Marfan Syndrome (a disorder affecting the body's connective tissue) – was confirmed.

Dr. Ouzounian, a scientist within the Peter Munk Centre of Excellence in aortic disease, discusses the goals of the conference and why genetics matters for diseases of the aorta.

What are some diseases of the aorta that are genetic or inherited?
Some disorders are syndromic, meaning they have manifestations in other organ systems of the body, such as Marfan Syndrome, where the ocular system and the skeletal system are involved, or Loeys-Dietz Syndrome.  There are also aortic disorders that are nonsyndromic, so familial forms of hereditary aortopathy, where patients look, they don't have any typically unusual features, from the surface they look completely unremarkable but they a hereditary type of aortic disease which can be quite malignant.  We know that 20 per cent with a thoracic aneurysm for example do have a family history of aortic disease or other aortic aneurysms or dissections, and if we test them for genetic conditions, we will find a mutation leading to the cause in about 25 per cent of patients.

What is the goal of the Heritable Aortic Disease Conference?
This conference is really to first of all bring together the community of physicians who are interested in and look after these patients. So, we are a group of cardiologists, cardiac surgeons, vascular surgeons, radiologists and geneticists – all from different disciplines, all interested in the aorta. One of the primary goals is to inform the general cardiologist about heritable aortic disease, to inform trainees about heritable aortic disease and to bring together this community. It's a niche community so there aren't that many opportunities for the scientists and the researchers to really get together and really focus on this particular area, so we are very excited for that. Another goal of the conference is actually patient education. The second day of the meeting is for patients and families. We'll have three sessions, one on genetics, one on medical management/cardiology session and one on surgical management of aortic disease for patients and their families and we'll do workshops on each of these topics as well.

What are some main characteristics of diseases of the aorta?
One of main issues with aortic disease is that it is often silent until a catastrophic aortic complication has happened. If these patients are not identified early, then they would present with an aortic dissection or an acute aortic catastrophe requiring an emergency operation, and possibly being fatal.  Once the condition is identified in a family, then we have the opportunity to screen family members both with imaging and then also with genetics, if a specific mutation is identified, and in those members we can be fortunate enough to treat them medically with better blood pressure control and then also offer them prophylactic surgery, electively, before a catastrophic aortic event has happened.  Patients who have elective surgery do far better, both after surgery and then in the long run, than those who come with dissection.

Monday September 19, 2016 is Aortic Dissection Awareness Day​

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