Resources

New guidelines for the diagnosis and management of aortic disease were published on November 2, 2022 in the Journal of the American College of Cardiology and Circulation. These guidelines, which were created by a team of medical experts on behalf of the American College of Cardiology and American Heart Association, provide recommendations on the diagnosis, evaluation, medical therapy, endovascular and surgical intervention, and long-term surveillance of people with aortic disease based on evidence available in the literature and, in some instances, based on expert consensus opinions. They include specific recommendations for those with syndromic and non-syndromic genetic aortic conditions as well as other types of acute aortic syndromes. They also emphasize the role of shared decision-making.

The guidelines provide support for:

• Seeking surgical treatment from high volume centers with experienced surgeons as part of a multi-disciplinary team for asymptomatic patients with extensive aortic disease, those who might benefit from complex open and endovascular repairs, and those with multiple co-morbidities.

• Genetic testing for people with syndromic features, family history of thoracic aortic disease, or early onset of disease (under the age of 60).

• Thoracic aortic imaging of family members of affected individuals to screen for asymptomatic thoracic aortic disease in specific cases.

• Open surgery is recommended over thoracic endovascular aortic repair in patients with Marfan, Loeys-Dietz, and VEDS who have a descending thoracic aortic aneurysm that meets criteria for intervention and have suitable anatomy.

Specific recommendations for Loeys-Dietz syndrome include:

• Treatment with beta-blocker or angiotensin receptor blocker in maximally tolerated doses.

• Surgery for the prophylactic repair of the aortic root and ascending aorta should be based on the specific genetic variant, aortic diameter, aortic growth rate, extra-aortic features, family history, patient age and sex, and physician and patient preferences.

August 12th, 2024, became a historic day for the genetic aortic and vascular conditions community when the American Heart Association (AHA) published the first comprehensive expert-consensus scientific statement on pediatric aortopathy. The statement, which was authored by a committee that included 10 Marfan Foundation leadership volunteers, covers multiple conditions, including Marfan, Loeys-Dietz, and vascular Ehlers-Danlos syndrome.

Topics of special interest to our community include new guidance around physical activity and exercise in children and reference tables for doctors that lay out optimal practices for imaging when to prescribe medications and surgical thresholds. In totality, the statement’s aim is to help pediatricians and pediatric cardiologists around the United States and the world optimize care for young people under 18.

You can better understand the scientific statement by reviewing this summary and Top Things to Know from AHA. You can read the full statement in AHA’s Circulation journal. If you wish to share these links with healthcare providers, you may also want to highlight the Supplemental Material downloadable document at the bottom of Circulation’s statement, as it contains the quick references for healthcare providers created as part of the statement.