Marfan Syndrome
Familial Aortic Aneurysm (FAA)Marfan Syndrome
Marfan syndrome is a genetic disorder of the connective tissue affecting 1 in 5,000-10,000 people. Because connective tissue is throughout the body, a variety of organ systems can be involved, including the ocular (eye), integumentary (skin), skeletal, and cardiovascular systems. Some common ocular findings include: myopia (nearsightedness), lens dislocation (ectopia lentis), retinal detachment, and glaucoma. Common skeletal findings include bone overgrowth, joint laxity, stretch marks, disproportionately long arms and legs, pectus excavatum (sunken appearance of chest), pectus carinatum (protrusion of the chest), and scoliosis. Features associated with the cardiovascular system include: aortic dilatation (enlargement), with the potential for aortic tear or rupture, mitral valve prolapse.
Marfan syndrome is caused by a mutation in the fibrillin gene (FBN1) located on chromosome 15. Fibrillin is involved in the scaffolding of the elastic tissues of the body. About 75% of individuals diagnosed with Marfan syndrome have inherited a mutation from a parent. The remaining 25% of cases are the result of a new mutation at the time of conception. Marfan syndrome is an autosomal dominant condition; therefore, children of an affected individual have a 50% of inheriting the mutation.
Diagnosis, Management, and Treatment of Marfan Syndrome
The CVGC will collaborate with other specialties to provide:
Comprehensive patient evaluations including
Eye exams
Echocardiography
Rheumatologic evaluation
Evaluation of the aorta
Patient and family education
Orthopedic management of skeletal issues, such as scoliosis
Familial Aortic Aneurysm (FAA)
Familial aortic aneurysm is an inherited disorder in which affected individuals develop enlargement of the aorta called an aneurysm. The aneurysm may occur anywhere along the aorta and may be referred to as abdominal (occurring in the abdomen) or thoracic (occurring in the chest) depending on its position along the aorta. Dilation at the level of the ascending aorta or the sinuses of Valsalva and may progress over time to eventually tear or rupture. The aortic dilatation is similar to that seen in Marfan syndrome; therefore, in order to be diagnosed with familial aortic aneurysm, Marfan syndrome and other connective tissue disorders must be excluded. Familial aortic aneurysm is inherited in an autosomal dominant manner, which means that affected individuals have a 50% chance of passing the mutation on to offspring; however, this condition can have reduced penetrance and variable expression, so not all family members may be affected. Diagnosis, Management, and Treatment of Familial Aortic Aneurysm The CVGC takes a multidisciplinary approach to caring for patients with Familial Aortic Aneurysm including: Comprehensive evaluation of affected individuals Longitudinal clinical follow-up Family screening Patient and family education Surgical interventions
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