Key result
A 74-year-old female with Marfan syndrome, bicuspid aortic valve, and a thoracic aortic aneurysm successfully underwent transcatheter aortic valve replacement for severe aortic stenosis.
Why the study?
Coexistence of Marfan syndrome and bicuspid aortic valve can have an additive impact on aortic integrity, resulting in heightened risks of serious cardiovascular complications such as aneurysm formation or dissection.
Case Report (n=1)
TAVR can be a feasible treatment option for severe aortic stenosis in elderly, high-risk patients with concurrent Marfan syndrome, bicuspid aortic valve, and thoracic aortic aneurysm who are not candidates for surgical repair.
May support TAVR feasibility in select high-risk Marfan patients; hypothesis-generating and should not yet change practice.
Marfan syndrome is a genetic condition that causes connective tissue abnormalities that can ultimately lead to cardiovascular complications such as aneurysms. When a bicuspid aortic valve is also present, which is a congenital heart defect characterized by the aortic valve having two cusps instead of three, a combined effect of serious cardiovascular complications can result. There is an additive and increased risk of aortic complications due to the combined impact on aortic integrity that can lead to aneurysm formation and/or dissections. A severe case of aortic stenosis with a thoracic aortic aneurysm (TAA) was discovered in a patient found to have Marfan syndrome. An elderly female patient, without any relevant medical history, was evaluated for progressive dyspnea following the death of her spouse. Upon examination, the patient exhibited characteristics of Marfan syndrome. Subsequent imaging revealed a bicuspid aortic valve and TAA. A multidisciplinary approach was necessary, involving various specialties to guide treatment. Given the patient's age and high-risk profile, she was not a candidate for TAA repair. However, the patient underwent a transcatheter aortic valve replacement (TAVR) with medical management and routine follow-ups. Awareness of the heightened risks associated with a bicuspid aortic valve and Marfan syndrome is crucial, as early intervention can mitigate complications and improve the quality of life.
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McPherson et al. (2025) conducted a case report in Marfan syndrome, bicuspid aortic valve, severe aortic stenosis, and thoracic aortic aneurysm (n=1). Transcatheter aortic valve replacement (TAVR) was evaluated. A 74-year-old female with Marfan syndrome, bicuspid aortic valve, and a thoracic aortic aneurysm successfully underwent transcatheter aortic valve replacement for severe aortic stenosis.
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