Key result
Marfan syndrome research improves care for related conditions like ascending aortic aneurysm.
Why the study?
Marfan syndrome and related disorders cause ascending aortic aneurysms with high cardiovascular risk, and research is needed to improve patient care.
This working group report highlights the importance of research in Marfan syndrome for improving care across various syndromic and familial ascending aortic aneurysm conditions.
Marfan research advances care for related aortopathies; extends insights to syndromic and familial ascending aortic aneurysms.
A ortic aneurysm and dissection is a common phenotype, accounting for 1% to 2% of all deaths in industrialized countries and 50 000 deaths annually in the United States. Marfan syndrome (MFS) is the most common syndromic presentation of ascending aortic aneurysm, but other syndromes such as vascular Ehlers-Danlos syndrome and Loeys-Dietz syndrome (LDS) also have ascending aortic aneurysms and the associated cardiovascular risk of aortic dissection and rupture. Familial segregation of the risk for ascending aortic aneurysm can also occur in the absence of associated systemic findings of a connective tissue abnormality in patients with familial thoracic aortic aneurysm and dissection (FTAAD) or bicuspid aortic valve with ascending aortic aneurysm (BAV/AscAA). The knowledge gained through basic and clinical research focused on MFS has improved and will continue to improve the care of patients with these related conditions.
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Pearson et al. (2008) conducted a review in Marfan Syndrome and Related Disorders. Basic and clinical research focused on Marfan syndrome has improved and will continue to improve the care of patients with related conditions such as ascending aortic aneurysm.
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