Connect Issues Winter 2021

GENTAC AORTIC SUMMIT: HIGHLIGHTS FOR OUR COMMUNITY By Roanne Weisman, Marfan Foundation Volunteer Writing Team

the effects of fluoroquinolones (a group of antibiotics) in Marfan mice. Studies using established mouse models support that fluoroquinolones should be avoided in people with aortic dilatation and in those at risk for aneurysm and dissection. In humans they found that this antibiotic leads to a slight increase in the risk of tearing tendons, which share structural similarity with the aorta. Though the likelihood of causing an aorta tear is low, use of these antibiotics might increase risk, so the recommendation is for people with connective tissue conditions to avoid fluoroquinolones if possible. Calcium channel blockers are also potentially risky because they seem to enhance dilation of the aorta in

In November 2020, the GenTAC Chair Kim Eagle, MD, University of Michigan, and Josephine Grima, PhD, the Foundation’s Chief Science Officer, shared research highlights from the Foundation's newest division, the GenTAC Alliance ( GE netically T riggered T horacic A ortic A neurysms and Related C ardiovascular Conditions). The highlights were from the recent GenTAC Aortic Summit, an international scientific meeting held in the Fall that was powered by The Marfan Foundaton. Researchers from all over the world presented the latest scientific evidence of the risks, diagnosis, prevention, and treatment of genetically triggered thoracic (chest) aortic aneurysms and related conditions. Investigators continually analyze data to find trends to help physician make better informed decisions about management. Although researchers have learned a lot about genetic mutations that result in aortic aneurysms and dissections, there is still a lot to learn. Recent studies looking at familial aortic aneurysm genes are investigating how they can compromise the smooth muscle contraction and the integrity of the matrix (framework) supporting the outside of aorta. Additionally, the scientists are collecting patient outcomes based on gene mutations to support more personalized management. Many people in our community want to know what they can do to protect their aorta. Researchers agree that the answer varies with every person, depending on the type of abnormality, family history, occupation, the size and quality of the aorta, personal goals and fears, and what gives you joy. Their advice is to collaborate with your healthcare professional to provide guidance about the best physical activities, how to avoid risk, and build the confidence to lead a full life. One study showed that a low-impact mild form of aerobic exercise seemed to help reduce harmful changes in the aorta over time. It is also important to warm up and cool down, and avoid isometric and immediate stress on the aorta, such as picking up heavy weights. Another topic the researchers are studying involves Collaborate with your healthcare professional to provide guidance about the best physical activities, how to avoid risk, and build the confidence to lead a full life.

Marfan mice. Data suggests that calcium channel blockers may be beneficial in people with

type B dissection, but should be used with caution in people with with Marfan syndrome and other forms of heritable aortopathy. A common question among women

with genetic aneurysm mutations is the risk of dissection in the ascending aorta related to pregnancy . Recent studies have shown that women with an aorta measurement of 4 cm or higher may be at risk of a dissection and should be counseled about the risks of pregnancy. In some cases, the ascending aorta can be prophylactically replaced before the woman becomes pregnant. In addition, hormonal changes after delivery may also affect the integrity of the aorta. However, studies indicate that type B dissections (descending aorta) frequently occur post-partum and are unpredictable. Anyone who is at risk of dissection, should take steps to avoid an emergency aortic surgery . Topics to discuss with your surgeon include aorta size, aortic wall stress, blood flow, thickness of the aorta, and family history of aortic dissection at a small size. Over the last two decades, aorta replacement decisions have fluctuated, and knowledge is continuing to evolve. Aortic diameter remains the primary measurement dictating the timing of surgery for ascending aneurysms. However, new measurements and analyses, as well as improved surgical outcomes, may more accurately predict when to intervene surgically. The Marfan Foundation continues its commitment to research, bringing the scientific community together from all over the world to advance knowledge on genetic connective tissue disorders. Through the GenTAC Alliance, the Foundation is extending its impact worldwide and has more opportunities to help facilitate research that can result in improved outcomes for the Marfan, LDS, and VEDS community.

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