Marfan syndrome is a genetic condition in which the proteins that make up the connective tissue that supports the heart, blood vessels and other vital organs is weakened. Most people with this condition have heart and blood vessel problems, often resulting in aortic aneurysm or valve dysfunction. Patients with Marfan syndrome have tall, thin frames, long legs, fingers and hands and may have problems with vision.
Marfan syndrome is caused by a mutation in the gene that controls how the body makes fibrillin-1, which is a protein that helps make up the connective tissue in the body. The mutation of this gene causes the body to produce more of a growth protein than fibrillin-1 creating weaker connective tissue that supports the heart, blood vessels and vital organs. The mutated gene is most commonly passed from a parent to child, but research has found that in about 25% of cases the new mutation occurs spontaneously.
Patient will have optimal cardiac output with adequate tissue perfusion. Patient will remain free from injury.
Perform complete physical assessment
Get a baseline of data, note retractions or protrusion of sternum.
Assess and monitor vital signs
Get a baseline and monitor for elevated BP and heart rate that may indicate aortic injury or damage.
Auscultate heart and lung sounds
Listen for murmurs, leaky valves and abnormal breath sounds to determine progression of condition.
Obtain 12-lead EKG and echocardiogram as appropriate
Monitor for signs of cardiac involvement, disease progression and determine cardiac function.
Assess vision using Snellen chart
Patients often have extreme nearsightedness. Assess for degree of vision impairment and make recommendations for ophthalmologist.
Monitor x-rays, CT, MRI
Monitor for bone and joint deformities or malformations and monitor for spine curvature (scoliosis) to determine if braces, splints or other appliances are necessary.
Assess ROM and perform ROM exercises (AROM, PROM)
Assess and monitor flexibility and range of motion as exercises are important for maintaining strength and mobility.
Cluster care and provide rest periods
Patients may have fatigue or an intolerance to activity due to medications or cardiac involvement of the condition. Provide periods of rest to promote normalized blood pressure and prevent injury.
Administer medications appropriately and monitor for side effects
Medications are given to reduce the blood pressure and relieve the force of pressure on the aorta. The first-line medication is a beta blocker, but calcium channel blockers or angiotensin receptor blockers may be used in patients who are unable to tolerate beta blockers.
Provide pre- and post- operative care as appropriate
Surgery may be required to stabilize or correct aorta or valve issues. Other surgeries may be to repair or treat sternum problems from retraction or protrusion or for eye surgeries to repair retina or lens displacement.
Provide appropriate care and education before and after surgery as required.
Provide patient and parent education for safety and nutrition
Provide patient education and support for self-image issues
Especially in the adolescent and teen years, patients are often self-conscious about appearance.
Help them to find beauty in themselves and offer information about resources and peer groups to build confidence and promote self-esteem.
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