A 19 year old male came for routine physical examination prior to playing for a college basketball team. He takes no medications and has no allergies. In his family history his father & his uncle died at the age of around 40 with sudden cardiac death. However, his mother is healthy. O/E- his height is 195 cm, weight is 92 kg. He has pectus excavatum and arachnodactyly. A high-arched palate is present. He wears glasses for severe myopia and has had ectopia lentis on the right. A diastolic murmur is heard in the left third intercostal space. What will you advise him?

Given clinical presentation is suggestive of Marfan syndrome. Features of Marfan syndrome. Skeletal Cardiovascular Others Long limbs and tall stature Upper segment: lower segment <2 SD Arachnodactyly- long, slender fingers and hands Pectus excavatum/pectus carinatum Scoliosis MVP Dilatation of aoic root Aoic regurgitation Aoic aneurysm Ectopia lentis Spontaneous pneumothorax Inguinal hernia Diagnosis is based on the revised Ghent criteria- major and minor criteria. 4 major criteria Ectopia lentis Dilatation of ascending aoa with/without dissection A blood relative who meets the same criteria With/without DNA diagnosis Fuher workup with echocardiogram and slit-lamp examination will be required in this patient. Sudden death of the patient's father is likely to represent an aoic aneurysm rupture. Because this patient has several clinical features and a murmur concerning for Aoic regurgitation, an echocardiogram would not be required before removing him from fuher strenuous physical activity.