Marfan Syndrome and the School Nurse
•
22 j'aime•8,227 vues
From the National Marfan Foundation, this presentations gives an overview of Marfan syndrome and provides the school nurse with resources to identify students in need of an evaluation, make appropriate referrals, manage the healthcare and educational needs of the student, and to educate faculty and staff about the disorder. A free copy of the presentation is available to school nurses on our website at www.marfan.org.
![Objectives ,[object Object],[object Object],[object Object]](data:image/gif;base64,R0lGODlhAQABAIAAAAAAAP///yH5BAEAAAAALAAAAAABAAEAAAIBRAA7)
Recommandé
Contenu connexe
Tendances
Tendances (20)
En vedette
En vedette (20)
Similaire à Marfan Syndrome and the School Nurse
Similaire à Marfan Syndrome and the School Nurse (20)
Dernier
Dernier (20)
Marfan Syndrome and the School Nurse
- 1. Marfan Syndrome: Need to Know Information for the School Nurse
- 12. Marfan Hands
- 13. Which of each pair has Marfan syndrome? Answer: All Four have Marfan syndrome
- 14. “Extremely tall and skinny???”
- 15. More images of Marfan Syndrome
- 17. Marfan Syndrome or Loeys-Dietz?
- 34. Resources
Notes de l'éditeur
- Dr. Antoine Marfan was a Paris pediatrician who described skeletal abnormalities in a 5 year old girl in 1896 In 1956 Dr. Victor McKusic said “What the suspensory ligament of the lens has in common with the media of the aorta is obscure, If this was known the basic defect of the Marfan syndrome might be understood .” He was proven correct in 1986 when a new connective tissue protein called Fibrillin was discovered. Fibrillin is an element of elastin tissue which is abundant in tissues affected in Marfan syndrome including the aorta, the suspensory ligaments of the lens, and the periosteum. A mutation in the FBN1 gene which encodes Fibrillin causes Marfan syndrome and other CTD phenotypes.
- Life expectancy has increased >25% since 1972, largely due to the current standard of care which includes early diagnosis, lifestyle modifications, medical management, notably beta-blockers like Atenolol, and greatly improved surgical procedures.
- It is an autosomal dominant disorder: In other words, If a person is affected, each of his or her children has a 50% chance of inheriting the syndrome. However, 25% of individuals with Marfan syndrome are spontaneous mutations: the first person in their family to have Marfan syndrome. It is caused by a mutation in the FBN1 gene which encodes the Fibrillin protein.
- However there are people with Marfan who are overweight and even short. The pigeon chest or pectus carinatum is a chest that protrudes out. The pectus excavatum is a concave chest. The chest can also be asymmetrical.
- See how this persons feet are pronating. Look how long these fingers are and how hyperextensible the thumb is.
- There can be mitral valve prolapse or arrhythmia. One of the cardinal signs is aortic root dilation. There can be up to a 250% greater chance of aortic root dissection. The risk of aortic dissection is in direct proportion to the size of the aorta, so we monitor the aortic size by echocardiogram or MRI every 6 months to one year. Aortic dissection can be either a tear in the inner wall with bleeding in to the wall of the aorta or can actually tear right through the aortic wall.
- The dura surrounding the spinal cord can stretch and bulge over time. Lens subluxation is a dislocation of the lens due to laxity of the ligaments in the eye.
- Loeys-Dietz Definition A recently identified aortic aneurysm syndrome that has some overlapping features with Marfan syndrome but has clearly distinct features. Lens dislocation has not been associated with this disorder. This syndrome is caused by a mutation in the genes encoding transforming growth factor beta receptor-1 (TGFBR1) or-2 (TGFBR2). The main clinical characteristics include: Widely spaced eyes (hypertelorism) Cleft palate or bifid uvula (a split in the tissue that hangs down in the back of the throat) Aortic and arterial aneurysms/dissections with tortuosity (corkscrew structure) of the arteries Other findings can include: Scoliosis Indented or protruding chest wall (pectus deformity) Contractures of fingers and toes (camptodactyly) Long fingers and lax joints Club foot Premature fusion of the skull bones (craniosynostosis) Joint hypermobility Congenital heart problems including patent ductus arteriosus (connection between the aorta and the lung circulation) and atrial septal defect (connection between heart chambers) Translucency of the skin with velvety texture Abnormal junction of the brain and medulla (Arnold-Chiari malformation) Cardiovascular Management: It is very important to know that the aneurysms can be widely distributed throughout arterial system and are not only limited to the aortic root. Moreover the aortic root is subject to tear at smaller sizes than usually seen in Marfan syndrome. This implies it is necessary to image the whole body arterial system and that surgery of the aortic root is indicated at earlier stages than in Marfan syndrome.
- Not all individuals with Marfan syndrome look alike so Marfan syndrome can be tricky to recognize.
- The comprehensive evaluation involves a visit to the ophthalmologist for a slit lamp exam to look for subluxed lenses and myopia, a cardiologist for an echocardiogram and EKG, and often a geneticist for a complete evaluation, genetic counseling and sometimes genetic testing. The bottom line is that diagnosis and treatment are determined by clinical evaluation.
- If it is used, it is used in the context of the comprehensive evaluation. LDS mutations are on different gene/different chromosome
- Postural screenings are very helpful in picking up scoliosis and asymmetry of the chest vision difficulties myopia, dislocated lenses You’re also in a key position to pick up any relevant history during the sports pre-participation evaluation.
- Postural screenings are very helpful in picking up scoliosis and asymmetry of the chest vision difficulties myopia, dislocated lenses You’re also in a key position to pick up any relevant history during the sports pre-participation evaluation.
- The pre-sports participation health release forms could reveal a family history of Marfan syndrome, as well as history of spontaneous pneumothorax, frequent joint dislocation, hernias, or visual problems.
- We usually do not restrict smaller children, any games that children play in kindergarten through 3 rd grade are usually fine. However, we need to start early in steering kids away from a path that leads to varsity sports. We don’t want to have a child become very sports oriented and then have to pull him from the activity when he is 10 years old. All children should get exercise and can do things like ride bikes or play golf.
- We currently manage the rate of growth of the aorta with beta blockers or other antihypertensives . The theory is that by reducing the frequency and force of the blood hitting the aortic wall we can, over time, reduce the growth of the aorta. Anticoagulants are used in children who have had an artificial valve placed. Pain management is sometimes needed for headaches or joint pains. The hyperextensibility of the joints can lead to overextension and inflammation. Antidepressants are sometimes prescribed, there can be issues with body image and coping with a chronic, potentially life threatening disease.
- There should be an emergency plan including the hospital the child should be transported to in the event of an emergency, all physician and insurance information and a list of all medications. There should be a document on hand with the current clinical status, the date of the last echocardiogram and findings, and a list of all surgeries to date.
- Academic Issues: Academic achievement: past and current School attendance pattern: reasons for absences Physical education and other activity restrictions Modifications needed in curriculum or course requirements: alternative assignments do to physical education restrictions, extended timelines for completion of assignments, and process to obtain missed assignments due to absences for appointments or illness School reentry plan following surgery Self Care: Student’s knowledge of health-care needs and management plan Ability to self monitor: activity tolerance, vision, skin, breathing Student’s ability to advocate for self with staff Decision making skills Psychosocial: Student’s acceptance of family interventions Student’s utilization of coping strategies to deal with health condition: effective, ineffective Family’s utilization of coping strategies to deal with health condition: effective, ineffective Behavioral issues: risk-taking behaviors, fear of performance Feelings about visible deformity and activity limitations Participation in school activities, community activities, family activities Supportive persons s/he is comfortable talking to (parents, physicians, school staff, psychologist, etc.)
- University of Florida Medical Center, Gainesville University of South Florida Health Sciences Center, Tampa