Diagnosis & Prognosis for Marfan syndrome
Marfan syndrome is an inherited disorder of the connective tissue (fibers that provide the framework and support for the body) that is estimated to occur in at least 1 in 5,000 persons. The inherited defect is that the body cannot produce fibrillin—a protein that helps to give the connective tissue its strength and elasticity. Marfan syndrome occurs in all races and ethnic groups, and although present at birth, may not be diagnosed until adolescence or young adulthood.
Marfan syndrome is characterized by multiple abnormalities in the connective tissue, with signs and symptoms that can vary greatly from person to person.
- Tall and slender, a narrow face, deep-set eyes, receding chin, down slanted eyes, high arched palate with crowded teeth
- Arm span length greater than height
- Arachnodactyly—long, slender fingers and toes
- Pes planus (flat feet)—arch (instep) of the foot is flattened
- Pectus carinatum—protruding breastbone
- 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 lateral (side-to-side) curvature of the spine, greater than 20 degrees
- Spondylolisthesis—vertebrae (bones of the spinal column) slip forward and distort the spinal cord
- Reduced upper-to-lower segment ratio—length of the torso (shoulders to legs) is shorter than the length of the legs
Cardiovascular complications are the most serious potential complication of Marfan syndrome.
- 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.
- Dural Ectasia—The dura is a membrane that covers the spinal cord and brain. Swelling (ectasia) occurs due to weak dura that bulges under the pressure of the spinal fluid, 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, cannot see faraway objects.
- 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 (collapsed lung)—The lung ruptures 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.
- Striae (stretch marks)—Appear due to the inability of skin to stay elastic and are not a result of pregnancy or weight gain.
Diagnosing Marfan syndrome can be difficult, as there is no single test available for diagnosis. Diagnosis requires a thorough evaluation of the patient by physicians that are familiar with the syndrome, including the following medical and surgical specialists:
- Cardiologists and cardiac surgeons (heart and blood vessels)
- Ophthalmologists (eyes)
- Orthopedists (bones)
- Geneticists (inherited diseases)
Generally, if a family history is present (others in the family have been diagnosed with Marfan syndrome) at least two of the above body systems need to be affected to confirm the diagnosis. If no family history is present, at least three body systems need to be affected to confirm the diagnosis.
If unrecognized or left untreated, the average life expectancy for a patient with Marfan syndrome is 45 years. However, if properly managed, patients with Marfan syndrome can have a normal life expectancy.
For more information regarding Marfan syndrome and related disorders, please contact the Bluhm Cardiovascular Institute at 1-866-662-8467 or request a first time appointment online.
In addition, the most credible source of information about Marfan syndrome is the National Marfan Foundation (NMF). Please visit the NMF website.