MARFANS SYNDROME POWER POINT PRESENTATION

This is a PPT on Marfans Syndrome in children

1. MARFANS SYNDROME

2. MARFANS SYNDROME Definition ; Marfan syndrome is a systemic connective tissue disorder primarily affecting the cardiovascular, ocular, and skeletal systems , caused by mutations in the fibrillin-1 (FBN1) gene. Etiology and Genetics : Inheritance : Autosomal dominant Gene involved : FBN1 gene on chromosome 15q21.1 Protein affected : Fibrillin-1, a glycoprotein essential for formation of elastic fibers in connective tissue Pathophysiology : Mutated fibrillin leads to structural weakness in connective tissues and upregulation of TGF- β signaling , contributing to aortic disease and skeletal manifestations

3. CLINICAL FEATURES 1. Cardiovascular System Aortic root dilatation is the most life-threatening feature. Can progress to aortic dissection or rupture . Often asymptomatic early; requires regular monitoring. Mitral valve prolapse is common and may lead to regurgitation. Risk of aortic aneurysm increases with age if untreated

4. 2. Ocular System Ectopia lentis (lens dislocation), often superotemporal . High myopia (near-sightedness) Increased risk of retinal detachment , early cataracts, and glaucoma.

5. Skeletal System : Tall stature with disproportionately long limbs (dolichostenomelia) Arm span > height Lower upper-to-lower segment ratio Arachnodactyly Chest wall deformities : Pectus excavatum Pectus carinatum Scoliosis or kyphosis Joint hypermobility High-arched palate Positive wrist and thumb signs

6. Pulmonary Risk of spontaneous pneumothorax Restrictive lung disease from skeletal deformities Skin and Other Striae atrophicae Inguinal hernia , incisional hernias Dural ectasia seen on MRI

7. Diagnosis – Revised Ghent Nosology (2010) Diagnosis is made by evaluating: Aortic root enlargement (Z score ≥ 2) Ectopia lentis FBN1 mutation (with known pathogenicity) Systemic score (features across systems) Without a family history : Aortic root dilation AND : Ectopia lentis , OR Pathogenic FBN1 mutation, OR Systemic score ≥ 7 With a family history : Any one of: Aortic root dilation (Z ≥ 2) Ectopia lentis Systemic score ≥ 7

8. Systemic Score – Key Features & Points Feature Points Wrist + Thumb sign 3 Wrist OR Thumb sign 1 Pectus carinatum 2 Pectus excavatum or chest asymmetry 1 Hindfoot valgus deformity 2 Plain pes planus 1 Spontaneous pneumothorax 2 Dural ectasia (MRI-based) 2 Protrusio acetabuli (pelvic X-ray) 2 Reduced US:LS ratio AND ↑ arm span/height AND no severe scoliosis 1 Scoliosis or thoracolumbar kyphosis 1 Reduced elbow extension 1 Facial features (3 of 5) (dolichocephaly, enophthalmos, downslanting palpebral fissures, malar hypoplasia, retrognathia) 1 Skin striae (not pregnancy/obesity related) 1 Myopia >3 diopters 1 Mitral valve prolapse (all types) 1 Total ≥ 7 = Systemic involvement; Maximum total = 20 points

9. Typical phenotypic manifestations associated with Marfan syndrome : a | Pectus carinatum (protrusion of the sternum and ribs) b | Pectus excavatum (sunken sternum and ribs). c | Joint hypermobility. d | Arachnodactyly (overgrowth of the fingers). Steinberg or thumb sign . Arachnodactyly leads to two characteristics signs: the Steinberg or thumb sign (the distal phalanx of the thumb fully extends beyond the ulnar border of the hand when folded across the palm), and the Walter-Murdoch or wrist sign (full overlap of the distal phalanges of the thumb and fifth finger when wrapped around the contralateral wrist). e | Protrusio acetabulae (medial displacement of the femoral head into the pelvic cavity) f | Stretch marks (arrows)

10. Investigations :

11. Management: General Avoid contact sports or strenuous exertion Genetic counseling for family Regular follow-up with cardiology and ophthalmology Medications Beta-blockers : Reduce aortic dilation progression Angiotensin receptor blockers (ARBs) (e.g., losartan): shown to reduce TGF- β signaling Surgical Prophylactic aortic root replacement if diameter exceeds threshold or increases rapidly Surgery for scoliosis, severe chest deformity if compromising function

12. Prognosis : Prognosis has improved significantly with early diagnosis and preventive cardiologic care. Risk of aortic dissection or rupture is the major cause of early mortality if not treated. Lifelong monitoring is essential.