Description An inherited diseas...
Description
An inherited disease that affects the connective tissue of the body. Connective tissue is found throughout the body including the eyes, tendons, ligaments, blood vessels, heart and other organs. The connective tissue loses its normal elastic properties and becomes weak. This defect in the connective tissue results in weakening of the heart valves, enlargement of the aorta (aortic aneurysm), tearing of the aorta (aortic dissection), dislocation of the lens of the eye, glaucoma, emphysema, collapsed lung (pneumothorax), skeletal deformities, and complications during pregnancy. The gene is dominant, meaning a child has a 50% chance of getting Marfan syndrome if one parent has the disorder. People with Marfan syndrome are typically tall and thin with long arms and legs.
Symptoms
Tall and thin body, extra-long arms and legs, extra-long fingers and toes, heart murmurs, poor vision (nearsightedness), curved spine (scoliosis or kyphosis), flexible joints, flat feet, crowned teeth, chest bone that sticks out (pectus carinatum), chest bone that sinks in (pectus excavatum). Patients with aorta problems can experience chest pain, back pain, abdominal pain, fainting, breathing problems and sudden death.
Tests
Common tests used for diagnosis and treatment
Workup:
A history and physical exam will be done. Multiple imaging tests may be obtained to detect problems associated with Marfan syndrome including: magnetic resonance imaging of the back (MRI), computerized tomography of the back (CT), magnetic resonance angiogram of the chest (MRA), computerized tomography angiogram of the chest (CTA), and echocardiogram. The eyes may be examined using a special microscope (slit lamp exam), and the pressure of the eyes may be measured to diagnose glaucoma. Genetic testing may be performed to detect the defective gene.
Tests:
CT angiogram, CT Scan, Echocardiogram (ECHO), Electrocardiogram (EKG), MR angiogram, Magnetic resonance imaging (MRI)
Specialists:
Internal Medicine, Ophthalmology, Cardiothoracic Surgery, Pediatrics, Family Practice
Workup:
A history and physical exam will be done. Multiple imaging tests may be obtained to detect problems associated with Marfan syndrome including: magnetic resonance imaging of the back (MRI), computerized tomography of the back (CT), magnetic resonance angiogram of the chest (MRA), computerized tomography angiogram of the chest (CTA), and echocardiogram. The eyes may be examined using a special microscope (slit lamp exam), and the pressure of the eyes may be measured to diagnose glaucoma. Genetic testing may be performed to detect the defective gene.
Tests:
CT angiogram, CT Scan, Echocardiogram (ECHO), Electrocardiogram (EKG), MR angiogram, Magnetic resonance imaging (MRI)
Specialists:
Internal Medicine, Ophthalmology, Cardiothoracic Surgery, Pediatrics, Family Practice
Treatment
Therapy is aimed at preventing weakening of the wall of the aorta, and the enlargement and rupture of the aorta that can follow. Since blood pressure is constantly pushing on the wall of the aorta, blood pressure medications are used to keep the pressure low. The most common medications used are beta blockers, angiotensin converting enzyme inhibitors (ACE inhibitors), and calcium channel blockers. Surgery is required if the aorta becomes too large or expands quickly. The heart valves may need to be repaired or replaced if they begin to fail. Back braces may be needed for severe curvatures of the spine and surgery may be needed to repair breast bone defects. Eye problems such as glaucoma and lens dislocations are treated with medications and surgery. Visual problems can be corrected with glasses or contacts.