The Combined Risk of Marfan Syndrome and Bicuspid Aortic Valve in the Elderly

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.