What Are the Symptoms of Marfan Syndrome?
Signs and symptoms associated with Marfan syndrome vary greatly from person to person. Marfan syndrome is a “variable expression” genetic disorder, meaning not everyone experiences the same symptoms or abnormalities to the same degree despite having the same defective gene. Although present at birth, some patients aren’t diagnosed with Marfan syndrome until adolescence or young adulthood.
- Tall, slender body
- Narrow face, deep-set eyes, receding chin, down-slanted eyes, high-arched palate with crowded teeth
- Arm span length is greater than height
- Arachnodactyly: Long, slender fingers and toes
- Pes planus: Flat feet, with the arch of the foot flattened
- Pectus carinatum (protruding breastbone) or pectus excavatum (indented breastbone)
- Positive wrist sign (ability of the thumb and fifth finger to overlap appreciably when the wrist is gripped with the opposite hand)
- Positive thumb sign (thumb placed in palm and the thumb extends beyond the palm)
- Scoliosis (a side-to-side curvature of the spine greater than 20 degrees)
- Spondylolisthesis (vertebrae slip forward and distort the spinal cord)
- Reduced upper-to-lower segment ratio (length of the torso shorter than the length of the legs)
- Aorta: The aorta is the largest artery in the body and carries the blood that is pumped out of the heart to other organs. With Marfan syndrome, the walls of the aorta are weakened, potentially causing an aneurysm (enlarged aorta), a dissection (tear within the inner wall of the aorta) or a rupture of the aorta. Symptoms of an aortic dissection include chest pain, shortness of breath, stroke and leg pain. Aortic dissections are surgical emergencies and patients should immediately go to the emergency department if experiencing these symptoms.
- Aortic root: The aortic root is the beginning of the aorta. The aortic root essentially begins after the aortic valve and includes the point at which the coronary arteries (blood supply to the heart muscle) begin. With Marfan syndrome, the aortic root can enlarge, dissect or rupture like the aorta, but when these complications occur to the aortic root, the aortic valve and the coronary arteries are also affected, potentially causing further complications.
- Mitral valve prolapse: With mitral valve prolapse, the mitral valve bulges slightly back into the left atrium when it closes, allowing a small amount of blood to leak backward. This causes blood to back into the heart during each heartbeat (regurgitation), which can lead to heart failure.
Symptoms of an aortic or aortic root dissection may include chest pain, shortness of breath, stroke and leg pain. Aortic dissections are surgical emergencies and patients should immediately go to the emergency department if experiencing these symptoms:
- Dural ectasia: Swelling of the dura, a membrane that covers the spinal cord and brain, causing back problems and headaches
- Ectopia lentis: The lens in one or both eyes is cloudy due to the ligaments’ inability to hold the lens in place
- Myopia: Severe nearsightedness inhibits the ability to see distant objects and can cause retinal tears
- Retinal tear or detachment: The retina, which sends visual images to the brain through the optic nerve, is pulled away from its normal position in the back of the eye
- Spontaneous pneumothorax: The lung ruptures and collapses due to its inability to remain elastic during normal pressure changes associated with breathing
- Abdominal hernia: Part of the intestines bulge through a weak part of the abdominal wall due to the inability of the abdominal wall to stay elastic
- Stretch marks: Striae appear due to the inability of skin to stay elastic, not as a result of pregnancy or weight gain