Marfan syndrome

history,introduction,types,prognosis,diagnosis,treatment summary story etc

1. Genetic Disorder Project: Marfan Syndrome

2. Marfan Syndrome Marfan syndrome is autosomal dominant inherited disorder of connective tissue, characterised by loss of elastic tissue, affects numerous body systems, including the musculoskeletal, cardiovascular, neurological, and respiratory systems, and the skin and eyes . Antoine Bernard-Jean Marfan (June 23, 1858 – February 11, 1942), a French pediatrician. In 1896, Marfan described a hereditary disorder of connective tissue in a 5 year old girl with disproportionately long limbs that later became to be known as Marfan syndrome.

3. Genetic Disorder I ncidence is reported to be 1 in 10,000 live births . A pproximately one-fourth of cases are sporadic . The disorder shows autosomal dominant inheritance . W ith high penetrance, but variable expression both interfamilial and interfamilial clinical variation is common. There is no racial or gender preference.

4. Genetic Information MFS is associated with abnormal production, matrix deposition and/or stability of fbrillin-1. fibrillin-1, a glycoprotein component of the extracellular matrix protein that is the major constituent of microfbrils . The extracellular matrix is critical for both the structural integrity of connective tissue, but also serves as a reservoir for growth factors MFS was traditionally considered to result from a structural deficiency of connective tissues. The fbrillin-1 (FBN1) locus resides on the long arm of chromosome 15 (15q21), the involvement of FBN1 has been demonstrated in >90% of cases

5. Elastic fibers are found throughout the body, but are particularly abundant in the aorta, ligaments and the ciliary zonules of the eye. Transforming growth factor beta (TGF-β) plays an important role in Marfan syndrome. The simplest model of Marfan syndrome suggests reduced levels of fibrillin-1 allow TGF-β levels to rise due to inadequate sequestration. ( TGF-β) family of cytokines influences a diverse repertoire of cellular processes, including cell proliferation, migration,differentiation . (TGF-β) in MFS is high which mean more growth. People who have Marfan syndrome have a 50 percent chance of passing along the disorder to each of their children.

6. Down Syndrome: Symptoms The signs and symptoms of Marfan syndrome vary greatly, even among members of the same family. Marfan syndrome may include: Tall and slender build Disproportionately long arms, legs and fingers A breastbone that protrudes outward or dips inward A high, arched palate and crowded teeth Heart murmurs Extreme nearsightedness An abnormally curved spine Flat feet

7. Effects Cardiovascular system Weakened aortic walls Dilation of aorta Aortic aneurysm Aortic dissection Painful , tearing sensation Cystic medial degeneration of valves Prolapse of mitral/aortic valves Aortic insufficiency May lead to heart failure

8. Effects Eyes Lens dislocation ( ectopia lentis ) Occurs in up to about 80% of MFS patients and is almost always bilateral Increased risk of a detachment or tear in the retina Early-onset glaucoma or cataracts Skeletal system Tall stature Dolichostenomelia , arachnodactyly (unusually long limbs and fingers) Increased risk of abnormal curves in the spine (e.g. scoliosis) Abnormal development of ribs

9. Diagnosis Medical and Family Histories doctor will ask about medical history of patient and family's medical history. Physical Exam check the curve of your spine and the shape of feet. doctor also will listen to your heart and lungs with a stethoscope. Echocardiography MRI and CT scan Slit-Lamp Exam can find out whether you have a dislocated lens, cataracts, or a detached retina. GeneticTesting

10. Prognosis The features of Marfan syndrome can become apparent anytime between infancy and adulthood. Depending on the onset and severity of signs and symptoms, Marfan syndrome can be fatal early in life; however, with proper treatment, many affected individuals have normal lifespans . While the quality of life has improved for these individuals, there are still difficulties living with the condition. Marfan Syndrome can impact an individual's cognitive ability, physical growth, fertility, and health. Families can also experience additional challenges in caring for the individual.

11. Treatments and Medications HeartTreatments include: Medical : Beta blockers that help heart beat slower ,relieve strain and slow the rate of aortic dilation. - Surgical: Doctor may recommend surgery to repair or replace part of aorta and mitral valve . EyeTreatments Glasses or contact lenses can help with some of these problems. Sometimes surgery is needed. Nervous SystemTreatments Dural ectasia usually is treated with pain medications LungTreatments Chest tube use to treat pneumothorax ( remove the air in chest cavity). Sometimes surgery is needed.

12. Current Research Genetic molecular research related to Marfan syndrome and other inherited aortic disorders is a priority at the Center for Marfan Syndrome and Related Aortic Disorders. Pioneering work in cardiovascular surgery has been followed by expanded research and practice in all aspects of cardiac care. At the Falk Center for Cardiovascular Research and the Donald W. Reynolds Cardiovascular Clinical Research Center, clinicians and researchers are pushing the boundaries of knowledge and advancing our understanding and ability to diagnose and treat Marfan syndrome and aortic disorders. Currently , through the use of modern research techniques and equipment designed for use in the field of molecular biology, we are involved in studying families in order to identify genetic changes that are thought to give rise to the Marfan syndrome and other related heritable aortic disorders.

13. Summary Story Katherine has Marfan syndrome. She developed multiple health conditions due to her illness including long arms, legs and fingers . Her mother claims she is so excited for Katherine ’s future with the new technological advances as her daughter will be able to live a “normal life”.

14. References Pyeritz , R. E., & McKusick , V. A. (1979). The Marfan syndrome: diagnosis and management.  New England Journal of Medicine ,  300 (14), 772-777 . Dietz, H. C. (1996). Marfan syndrome.  FUNDAMENTAL AND CLINICAL CARDIOLOGY ,   26 , 219-238 . Dean, J. C. (2007). Marfan syndrome: clinical diagnosis and management.  European Journal of Human Genetics ,   15 (7), 724-733 . Pyeritz , R. E., & McKusick , V. A. (1979). The Marfan syndrome: diagnosis and management.  New England Journal of Medicine ,  300 (14), 772-777.