What are the symptoms of Marfan syndrome?

From the Guidelines

Marfan syndrome presents with a range of symptoms affecting multiple body systems, including cardiovascular, ocular, and skeletal systems, with the most serious complications involving the cardiovascular system, such as aortic enlargement and aneurysms that can lead to life-threatening aortic dissection or rupture 1. The symptoms of Marfan syndrome can be categorized into several key areas, including:

• Cardiovascular symptoms, such as aortic enlargement and aneurysms, which can lead to life-threatening aortic dissection or rupture 1
• Ocular symptoms, including severe nearsightedness and lens dislocation (ectopia lentis) 1
• Skeletal symptoms, such as unusually tall height with long, slender limbs, fingers, and toes (arachnodactyly), a curved spine (scoliosis), and a chest that protrudes outward (pectus carinatum) or dips inward (pectus excavatum) 1
• Other symptoms, including joint hypermobility, flat feet, and stretch marks on the skin not associated with weight changes 1 These symptoms result from mutations in the FBN1 gene, which produces fibrillin-1, a protein essential for connective tissue strength and elasticity 1. According to the most recent guidelines, patients with Marfan syndrome should undergo surgery when the aortic root maximal diameter is >50 mm, or when other factors such as family history of dissection, progressive dilation, or severe aortic regurgitation are present 1. It is also important to note that patients with Marfan syndrome are at risk for dissection of the residual aorta even after repair of the ascending aorta, and therefore require regular monitoring and follow-up 1. In terms of management, the 2022 ACC/AHA guideline for the diagnosis and management of aortic disease recommends surgical intervention to replace the aneurysmal segment in patients with Marfan syndrome and a nondissected aneurysm of the aortic arch, descending thoracic aorta, or abdominal aorta of ≥5.0 cm 1. Overall, the management of Marfan syndrome requires a comprehensive approach that takes into account the patient's individual risk factors and symptoms, as well as regular monitoring and follow-up to prevent complications and improve outcomes 1.

From the Research

Symptoms of Marfan Syndrome

The symptoms of Marfan syndrome can be diverse and affect various parts of the body. Some of the most common symptoms include:

• Aortic root dilation and mitral valve prolapse, which are the main presentations among the cardiovascular malformations of Marfan's syndrome 2
• Aortic dissection, which is the most frequent cause of premature death in Marfan's syndrome 3
• Asymptomatic aortic root aneurysms 4
• Dislocation of the ocular lens (ectopia lentis) 4
• Skeletal abnormalities characterized by overgrowth of the long bones 4
• Aortic insufficiency and dilatation of the aortic root, which are life-threatening manifestations of the disease 5

Cardiovascular Complications

Cardiovascular complications are the most life-threatening manifestations of Marfan syndrome. These complications can include:

• Mitral valve prolapse 5
• Aortic insufficiency 5
• Dilatation of the aortic root 5
• Aortic dissection 5, 3
• Aortic rupture 6

Other Symptoms

Other symptoms of Marfan syndrome can include:

• Skeletal abnormalities, such as overgrowth of the long bones 4
• Ocular abnormalities, such as dislocation of the ocular lens (ectopia lentis) 4
• Cardiovascular abnormalities, such as aortic root dilation and mitral valve prolapse 2