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?
Correct Answer: He is not safe for fuher competitive basketball or other strenuous physical activities.
Description: 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.
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