A growth disturbance and not a disorder with ligamentous laxity

Transcription

1 Marfan Syndrome

2 A growth disturbance and not a disorder with ligamentous laxity 1 in 5,000-10,000 extensive phenotypic variability

3 Fibrillin-1 abnormality Chromsome no. 15 Different forms of mutations reduced tension in periosteum and perichondrium may account for the skeletal overgrowth

4 Fibrilin - 1 Related to elastin Aortic media Suspensory ligaments of the lens Skin Cartilage periosteum

5 Stature & proportion Stature is increased at all ages armspan to height is.1.05 Decreased upper to lower segment Arachnodactyly (spider like digits) growth spurt peaks early and leads to an overprediction of adult height

6 Skull & facies High arched palate Long narrow face Prognathism Enlarged frontal sinus

7 Eyes Ectopia lentis (dislocated lens) Broken suspensory lig. Upward and lateral disloc. Myopia, strabismus, cataract, glucoma, retinal detachment

8 CVS Dilatation of ascending aorta & mitral valve insufficiency Dissecting aneurysm death

9 Skeletal manifestations Pectus excavatum ( rib growth) Pectus carniatum Joint laxity pes planus, genu recurvatum, perilunate dislocation Thumb sign (Steinberg sign) Wrist sign Crossed leg sign

10 Spine Scoliosis, kyphosis spondylolithesis Tall vertebral bodies Low position of the sacrum Widened spinal canal Concave post. Border of the vertebrae

11 Protrusio acetabulum elbow flexion contracture Hernias Elastic skin with striae

12 dural ectasia, ( ballooning of the dura).

13 Diagnosis

14 Diagnosis Ghent criteria presence of 1 major criteria in 2 different organ systems and involvement of a third system +ve family hist. AND 1 major criterion AND involvement of a second organ system

15 Skeletal System Major Pectus carinatum Pectus excavatum requiring surgery Scoliosis > 20 Positive thumb and wrist signs Elbow extension <170 Pes planus Protrusio acet. Reduced u/l seg. Or arm to height span Minor Facial app. High arched palate Joint hypermobility Moderate pectus excavatum

16 Ocular System Major: Ectopia lentis

17 Cardiovascular System Major: Dilatation of the ascending aorta with or without aortic regurgitation and involving at least the sinuses of Valsalva Dissection of the ascending aorta

18 Neurological System Major: Lumbosacral dural ectasia by CT or MRI

19 Pulmonary System Minor (only): Spontaneous pneumothorax Skin and Integumentary System Minor (only): Striae Recurrent or incisional hernia

20 Family/Genetic History Major: First degree relative who independently meets the diagnostic criteria Presence of mutation in FBN1 gene Presence of haplotype around FBN1 inherited by descent and unequivocally associated with diagnosed Marfan syndrome in the family

21 DD Homocystinuria Contractural arachnodactyly (Beals syndrome) Juvenile ophthalmoarthropathy (Stickler syndrome)

22 Treatment Cardiovascular management Beta blockers, to decrease the risk of aortic dilatation. Routine echocardiography is used to monitor the diameter of the ascending aorta. In patients whose aortas have increased beyond a critical diameter, cardiovascular surgery offers a good prognosis.

23 Treatment Eye examinations must be included in the initial evaluation to screen for lens dislocation, refractive problems, and retinal disorders.

24 Treatment Scoliosis braces do not appear to work well Surgery if the curve is progressively enlarging beyond the range of 40-50, avoid too-short fusions or attempt to save levels avoid creating junctional kyphosis. MRI must be used to identify dural ectasia.

25 Treatment Height Estrogen replacement epiphyseodesis at an appropriate time. Developmental dysplasia of the hip (1%-2%) rarely responds to Pavlik harness treatment Protrusio acetabulae rarely cause clinical problems.

26 Prognosis Life expectancy was 45 y now exceeds 70 years Skeletal problems are common. scoliosis usually progresses during adulthood if it exceeds 40.