1. For the 21st Century School Nursing
Marfan Syndrome
For the 21st Century School Nursing
Professional

2. Objectives Based on the Framework for 21st Century School Nursing Practice
Care Coordination - To recognize Marfan syndrome and related disorders as a chronic disease which must be managed through collaboration, education, empowerment and planning
Leadership - For school nurses to become change agents in the fight for reforms, advocacy and models of practice
Community Health – To increase access to care, provide health education and referrals and ensure risk reduction.

3. HISTORY OF MARFAN SYNDROME
1896 first described by Dr. Antoine Marfan
1956 Dr. Victor A. McKusick
Mid-1970’s Marfan syndrome defined by cardinal
features in three body systems:
Musculoskeletal System
Ocular System
Cardiovascular System
1996 Meeting in Ghent, Belgium establishes “Ghent Criteria” for diagnosis
Now New “user friendly” criteria under development
In 1896, Dr. Antoine Marfan, a French pediatrician, first described skeletal abnormalities in a 5 year old girl.
In 1956 Dr. Victor McKusick noted that there was a connection between the suspensory ligament of the lens and the media of the aorta. He felt that if this connection was understood that the basic defect of the Marfan syndrome might also be understood.
In 1986, He was proven correct 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.

4. TODAY
Following current Standards of Care an individual with Marfan syndrome can have a realistic hope of a normal life span with…
Early Diagnosis
Lifestyle modifications
Medical and surgical interventions
Life expectancy has increased >25% since 1972, largely due to the current standard of care which includes early diagnosis through increased awareness, lifestyle modifications, medical management (notably beta-blockers like Atenolol and Losartin), and greatly improved surgical procedures.

5. Some facts
There are estimated 200,000 affected individuals in the United States with Marfan syndrome or related disorder or 1 in 5,000
Genetic disorder: Autosomal dominant connective tissue disorder
25% individuals affected by Marfan syndrome have a spontaneous mutation
Mutation in the FBN1 gene which encodes the Fibrillin-1 protein
Current research has found that over-expression of growth factor TGFβ as cause of Marfan features
Marfan syndrome is 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 have a spontaneous mutation: 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.

6. MARFAN SYNDROME DEFINED
Multi-system disorder
Musculoskeletal System
Cardiovascular System
Ocular System
Neurological System
Pulmonary System

7. First Step is Identification

8. BODY SYSTEM INVOLVEMENT
Musculoskeletal “Typical” Physical Presentation
Disproportionately tall, thin stature
Thin, narrow face with high-arched palate, downturned eyes
Pigeon or concave chest and/or asymmetrical chest
Mild to severe scoliosis
However there are people with Marfan who are overweight and even short.
The pigeon chest or pectus carinatum is a chest that sticks out. The pectus excavatum is a concave or indented chest. The chest can also be asymmetrical.

9. BODY SYSTEM INVOLVEMENT
Musculoskeletal “Typical” Physical Presentation
Thin, narrow, flat feet or high- arched feet with hammer toes
Joint hyper-mobility
Arachnodactyly
Decreased ligament support and increased risk of large joint dislocation
Low muscle and/or ligament tone and fatigue
See how this person’s feet are pronating. Look how long these fingers are and how hyperextensible the thumb is.

10. BODY SYSTEM INVOLVEMENT
Cardiovascular
Mitral valve prolapse
Arrhythmia
Aortic root dilation
Up to a 250 times greater chance of aortic dissection
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 than in the general population. The risk of aortic dissection is in direct proportion to the size of the aorta, so doctors monitor the aortic size by echocardiogram or MRA every 6 months to one year.
Aortic dissection can be either a tear in the inner wall with bleeding into the wall of the aorta or can actually tear right through the aortic wall.

11. BODY SYSTEM INVOLVEMENT
Other
Neurological
Dural ectasia
Headaches
Pulmonary
Increased risk for spontaneous pneumothorax
Increased risk for non-smoking emphysema
Ocular
Myopia
Lens subluxation
Increased risk of retinal detachment
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.

12. “CLASSIC” MARFAN SYNDROME

13. MARFAN HANDS

14. WHICH OF EACH PAIR HAS MARFAN SYNDROME?
Answer: All four have Marfan syndrome.

15. “EXTREMELY TALL AND SKINNY?”
These boys both have Marfan syndrome.

16. MORE IMAGES OF MARFAN SYNDROME

17. MORE IMAGES OF MARFAN SYNDROME

18. MORE IMAGES OF MARFAN SYNDROME

19. MARFAN SYNDROME OR LOEYS-DIETZ?
Loeys-Dietz Definition An aortic aneurysm syndrome 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 features include:
Scoliosis
Indented or protruding chest wall (pectus deformity)
Contractures of fingers and toes (camptodactyly)
Long fingers and lax joints
Clubfoot
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.

20. MARFAN SYNDROME CAN BE TRICKY!
Many of these characteristics alone are common in the general population.
The absence of some characteristics does not rule out Marfan syndrome.
Several of these characteristics in combination may warrant a comprehensive evaluation.
Many similarities with Ehlos Danos, Loeys Dietz, Beals, FTAAD and others
Not all individuals with Marfan syndrome look alike so Marfan syndrome can be tricky to recognize.
Ehlers Danlos Syndrome – connective tissue disorders characterized by unstable, hyper-mobile joints, loss, stretchy skin and tissue fragility
Loeys Dietz – Skeletal features of Marfan and aneurysms in the aorta and other arteries, also twisting aorta, widely, spaced eyes, bifid uvula( slit tissue that hangs int eh back of the throat, may need heart surgery even sooner than a Marfan patient
Beals Syndrome – similar skeletal features and joint contractures, oddly shaped ears and aorta dilation
Familial Thoracic Aortic Aneurysm and dissection – FTAAD – aorta dilation and at risk from sudden death

21. DIAGNOSIS OF MARFAN SYNDROME
Comprehensive evaluation, often coordinated by a medical geneticist
Slit lamp eye exam
Echocardiogram
Physical examination
Family history
Genetic testing can be indicated in some cases; however, many people are diagnosed by clinical evluation alone.
Many people are first diagnosed through a visit to the eye or foot doctors. A comprehensive evaluation involves a visit to the ophthalmologist for a slit lamp exam to look for subluxed lenses and myopia, to a cardiologist for an echocardiogram and EKG,to an orthopedist to examine bones and joints, and then often to 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.

22. DIAGNOSIS OF MARFAN SYNDROME
Genetic Testing
Genetic testing is available for FBN1 mutations
Still not perfect – it is neither reliable nor specific
Useful in reproductive counseling
Clinical evaluation is often enough to make a diagnosis
Genetic testing specific for Loeys-Dietz Syndrome is available and reliable
If it is used, it is used in the context of the comprehensive evaluation.
Loeys-Dietz syndrome mutations are on different gene/different chromosome.

23. Early Diagnosis Saves Lives!

24. What can School Nurses do?

25. Care Coordination Role
Recognition of Marfan Syndrome as a chronic disease which needs to be managed on a daily basis
Recognize an emergency
Aortic Dissection – a tear between layers of the aorta. Can be fatal if not treated immediately.
Signs and Symptoms
pain in center of chest, abdomen or back
Nausea
Shortness of breath
Fainting
Loss of pulse
Tickling, numbness, burning, prickling of the skin
paralysis
Pain of an aortic dissection may be sharp, tearing, ripping and may travel from the chest to the back, a feeling that something is very wrong

26. Care Coordination Role….
Recognize an emergency….
Collapsed Lung
Air collects in the space between the lungs and chest and prevents the lung from inflating completing
Symptoms
Chest pain, sudden and sharp
Shortness of breath
Rapid heart rate
Rapid breathing
Couch
Fatigue
Skin may become bluish

27. Care Coordination Role…..
Recognize an emergency….
Detached Retina
A separation of the light sensitive membrane in the back of the eye from its supporting layers
Symptoms
Translucent specks of various sizes, shape and consistency
Bright flashes of light
Blurred vision
Shadow of blindness in part of the vision field

28. Care Coordination Role
Collaboration and Education
With Teachers – advocate for the needs of the child
Accommodations are often needed to ensure that children have a successful school experience.
taking all medical complaints seriously
provide unlimited access to nurse’s office
adjustment of school schedule for rest times
limit movement between classes
additional time to get to classes
extra set of books for home use to avoid carrying
Other Accommodations
Low vision – ranging from mild to severe
Fatigue – due to medications
Difficulty holding a pencil due to loose hand ligaments – may get worse as day progresses
Chronic pain
Headaches
May miss school for surgeries and medical appointments
Difficulty fitting into standard desk sizes and chairs
Unable to sit for long periods
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

29. Collaboration and Education
Physical Education Teachers and Coaches
Support Sports Pre-Participation Physical Evaluations (PPE)
Educate on signs and symptoms of an emergency situation
Educate on physical limitations to exercise and help design a physical education program which is low-intensity, low impact and low risk
Educate on medication and the risks they pose to exercise and physical contact
Discuss appropriate activities which are non-competitive and non-strenuous
Ensure that student does not feel “ different” and is allowed to find a place for themselves to achieve.
Doctors usually do not restrict younger children - any games that children play in kindergarten through 3rd grade are usually fine. However, kids should probably be steered away from a path that leads to varsity sports. Consider youth soccer, which is not an intensely competitive sport; it’s more recreational and is not regarded as dangerous for children with Marfan syndrome because aortic dissection in a young child with Marfan syndrome is very rare. However, youth soccer leads to more competitive soccer in middle school and beyond. Asking a child to give up a sport after he or she has been involved for many years impacts their social circle and their self-esteem, and removes them their life an activity for which they have developed a passion and talent.
Golf, bowling, archery, piano, art, and music are just a few alternatives that can provide an outlet for creativity and competition while also providing the interaction and socialization a student needs.

30. Collaboration with Parents
In the development of Individualized Education Plans (IEP) and 504 plans with administrators, parents, teachers and students to create plans which include goals for independence, self acceptance, adaptation and coping with limitations.
In the development of Individualized Health Plans ( IHP) and Emergency Care Plans (ECP) which provide a thorough assessment of the student’s physical and mental health, list of medications, date and results of latest imaging, all surgeries to date. The ECP also provides information on family, doctors, hospitals and preferred ambulance service.
The IHP for Medical Management
Antihypertensive
Anticoagulants
Headache and/or pain management
Antidepressants
Doctors 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 doctors can, over time, reduce the growth of the aorta.
Anticoagulants are used in children who have an artificial valve.
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, as 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.

31. Care Coordination Role
Collect information on:
Family history of Marfan syndrome
Family history of early cardiac death
History of spontaneous pneumothorax
History of frequent joint dislocation
History of hernias
Ophthalmalogic history
Skeletal features
List of all medications
Self Care: Student’s knowledge of healthcare 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

32. Leadership Role Advocate
Ensure Sports Pre-Participation Physical Evaluations (PPE) become mandatory in all states for all students.
Ensure all school nurses are aware of and have received education on Marfan syndrome or related disorders.
Ensure all medical personnel in emergency rooms are aware of and have received education on Marfan syndrome or related disorders.
Ensure all children are treated fairly and receive the accommodations needs to achieve to the best of their abilities

33. Community Health Role
If you suspect a child might have Marfan or a related order
Convey need for evaluation to parents
Provide appropriate referrals
Pediatrician
The Marfan Foundation, marfan.org
Follow up

34. Community Health Role Become a medical liaison to the school community
Faculty
Students
Educate unaffected students and parents
Raise awareness to ensure early identification

35. CONCLUSION
Marfan syndrome is a genetic connective disorder that affects an estimated 200,000 in the United States.
25% are caused by a spontaneous mutation.
Early diagnosis and intervention saves lives.
Diagnosis and treatment are determined through comprehensive clinical evaluation. Genetic testing can be indicated in some cases.

36. CONCLUSION
. It is strongly recommended that individuals with Marfan syndrome DO NOT participate in competitive sports
School nurses have a valuable role in helping identifying individuals at risk for Marfan syndrome.
School nurses have an important role in supporting the student diagnosed with Marfan syndrome.

37. RESOURCES
More resources are available at marfan.org