Loeys-Dietz Syndrome

Clinical Urgency and Guidance NEW YORK, Dec. 14, 2022 /PRNewswire/ -- The Marfan Foundation is saddened to learn that journalist Grant Wahl has died due to complications of an ascending thoracic aortic aneurysm. Diagnosed, this condition can be treated if people and their health professionals know the risk and manageable complications. The Foundation has expressed direct condolences to the Wahl family. His loss to family, friends, community, and professionals was heartbreaking. We commit to continued investment in science, patient support, and collaborative efforts that will make these tragic moments fewer and fewer. Recently, the American Heart Association and American College of Cardiology published new guidelines for identifying and treating aortic disease. This information can be found on The Marfan Foundation website. Follow Best Practice Guidelines for Identification and Treatment "About 20% of thoracic aortic aneurysms or aortic dissections are related to a genetic or heritable condition," said Alan Braverman, MD, Alumni Endowed Professor in Cardiovascular Diseases and Professor of Medicine, Washington University School of Medicine, and Director, Marfan Syndrome and Aortopathy Clinic at Barnes-Jewish Hospital in St. Louis. "Some of these conditions are associated with syndromic or recognizable features (like Marfan, Loeys-Dietz, or Vascular Ehlers-Danlos syndrome (VEDS)), and others are limited to aortic and vascular disease alone (nonsyndromic). Genetic testing of individuals at risk for TAA or dissection can identify people at risk, but even in the absence of a discovered genetic variant, the first-degree relatives of the person with a TAA or aortic dissection should undergo aortic imaging with a CT, MRI or echocardiogram to determine if family members have aortic disease. Recognizing the outward features of these conditions and screening at-risk relatives may save a life." Marfan Foundation Expertise Dr. Braverman serves on the Marfan Foundation Professional Advisory Board and Board of Directors, the leading global nonprofit organization on Marfan syndrome, Loeys-Dietz, VEDS, and other genetic aortic and vascular conditions, was a member of the writing team for these November-published guidelines. The Foundation, established more than 40 years ago, has been the leading advocate for aortic disease awareness and education since the death of Jonathan Larson, composer and playwright of RENT, who died of an undiagnosed aortic aneurysm and aortic dissection in 1995. Despite advances in treatment, an overwhelming challenge remains in diagnosis. – a situation similar to Grant Wahl. Signs of Aortic Dissection Symptoms of a thoracic aortic aneurysm may be related to the location, size, and growth rate of the aneurysm and can include: Pain in the chest, neck, and/or back Swelling of the head, neck, and arms Coughing, wheezing, or shortness of breath Coughing up blood Signs and symptoms of aortic dissection usually appear suddenly and may include: Severe, sudden, constant chest pain and/or upper back pain, sometimes described as "ripping" or "tearing." Pain that feels like it is moving from one place to another (radiating pain) Faint pulse Numbness or tingling Paralysis Sometimes, there may be no pain but a sense that something is terribly "wrong." If a dissection is suspected, a person needs immediate medical attention and should immediately go to a hospital emergency department. Marfan Syndrome About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it. But some people with Marfan syndrome are the first in their family to have it; when this happens, it is called a spontaneous mutation. There is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child. Because connective tissue is found throughout the body, Marfan syndrome can also affect many different parts of the body. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features – for example, aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body) – can be life-threatening. The lungs, skin, and nervous system may also be affected. Marfan syndrome does not affect intelligence. For more information on Marfan syndrome, please visit Marfan.org. SOURCE The Marfan Foundation