Table of Contents Clinical features DiagnosisManagement Test yourself! Marfan syndrome is a genetic disorder of connective tissue primarily affecting the skeletal system, eyes and cardiovascular system. Marfan syndrome triad Clinical features General Tall and thin Scoliosis Upper limbs Arachnodactyly (ask them to wrap their fingers around their wrist) Wide arm span Hyperextensible joints Face Long thin face Myopia/lens dislocation High-arched palate Chest and abdomen Pectus carinatum/excavatum Stretch marks Auscultate heart for murmurs (especially aortic regurgitation) Lower limbs Long legs Flat feet Arachnodactyly Diagnosis Genetic tests – diagnostic Management No cure Symptomatic treatment Prevention of and surveillance for complicationsMultidisciplinary team regular check upsAnnual echocardiogram (to assess aortic root and heart valves)5-yearly MR/CT aorta (to asses whole aorta)β-blockers or angiotensin-II receptor antagonists (to prevent aortic dilatation)Composite valve conduit/aortic root graft replacement or personalised external aortic root support (for aortic dilatation) Regular eye examinations Screening of family members Test yourself! What is the cause of Marfan syndrome? Oops! This section is restricted to members. What are the possible complications? Eyes: lens dislocation (50%), myopiaWeak thoracic aorta: aneurysms, dissectionValves: aortic regurgitation, mitral prolapse/regurgitation What conditions may cause joint hypermobility? Oops! This section is restricted to members.