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Pathology - Marfan Syndrome
Caused by a mutation in the fibrillin gene on chromosome 15; 20% of mutations are sporadic, while the majority are hereditary (autosomal dominant).
Pathophysiology: A faulty extracellular matrix results from a mutation in the fibrillin gene, a glycoprotein component of microfibrils.
Cardiovascular conditions include mitral valve prolapse (caused by the loss of connective tissue support for the valvular leaflet) and cystic medial necrosis of the aorta (which causes the aortic valve to dilate and weaken, increasing the risk of an intimal tear).
Eye: Lens displacement or bilateral subluxation.
Skeletal: Pigeon-breast deformity; spinal deformities (kyphosis, scoliosis).
Tall height with long extremities, scoliosis, ectopia lentis (dislocation of lenses), hyperextensible joints, long tapering digits (arachnodactyly), and aortic valve insufficiency as a result of aortic root dilatation.
One of the complications is a higher chance of developing a dissecting aortic aneurysm.
Management
An aortic root replacement if necessary, angiotensin receptor blockers, regular eye exams, and a spine brace if necessary are all recommended.
Caused by a mutation in the fibrillin gene on chromosome 15; 20% of mutations are sporadic, while the majority are hereditary (autosomal dominant).
Pathophysiology: A faulty extracellular matrix results from a mutation in the fibrillin gene, a glycoprotein component of microfibrils.
Cardiovascular conditions include mitral valve prolapse (caused by the loss of connective tissue support for the valvular leaflet) and cystic medial necrosis of the aorta (which causes the aortic valve to dilate and weaken, increasing the risk of an intimal tear).
Eye: Lens displacement or bilateral subluxation.
Skeletal: Pigeon-breast deformity; spinal deformities (kyphosis, scoliosis).
Tall height with long extremities, scoliosis, ectopia lentis (dislocation of lenses), hyperextensible joints, long tapering digits (arachnodactyly), and aortic valve insufficiency as a result of aortic root dilatation.
One of the complications is a higher chance of developing a dissecting aortic aneurysm.
Management
An aortic root replacement if necessary, angiotensin receptor blockers, regular eye exams, and a spine brace if necessary are all recommended.
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