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Aortic dissection
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Cardiac arrhythmia
Heart failure
Joint dislocation
Obstructed cardiac output
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This tall, skinny patient who presents with scoliosis (lateral spinal curvature) and increased joint mobility (thumb and wrist signs) most likely has Marfan syndrome. This disease is associated with aortic pathology such as aortic regurgitation (associated with syncope on exertion) and aortic dissection. Marfan syndrome is a connective tissue disease that is most commonly caused by a mutation of the FBN1 gene on chromosome 15. This gene encodes fibrillin-1, a glycoprotein that forms a protective sheath around elastin and promotes the integrity of elastic structures such as vessels, ligaments, and the lens of the eye. Patients have a tall and thin stature with an arm span that exceeds height, scoliosis, pectus carinatum or excavatum, and long fingers and toes (arachnodactyly). This can be seen with the "thumb sign," where the thumbnail protrudes beyond the ulnar border of the hand when crossed, and the "wrist sign," where the thumb and little finger can encircle the opposite wrist. Complications of Marfan syndrome include lens dislocation (in the superolateral direction), cardiac valve degeneration, and aortic dissection (most deadly complication). There is no cure for this condition so treatment is supportive and includes beta-blockers and avoidance of contact sports due to the risk of aortic dissection and death. Milleron et al. studied the risk of aortic events in patients with Marfan syndrome. They found that the risk was low in patients with aortic diameter <50 mm who were treated with beta-blocker therapy and avoidance of strenuous activity. They recommended optimal cardiac management of these patients to decrease the risk of cardiac death. Incorrect Answers: Answer 2: Cardiac arrhythmia can occur suddenly resulting in cardiac death in patients who have hereditary forms of long QT syndrome. These diseases are often silent prior to the appearance of the fibrillation event but can be detected incidentally on an electrocardiogram. Answer 3: Heart failure can also result in lightheadedness and dyspnea on exertion, but left heart failure would present with orthopnea and paroxysmal nocturnal dyspnea. Peripheral edema may also be seen in patients who have concurrent right-sided heart failure. Answer 4: Joint dislocation is more commonly seen in patients with Ehlers-Danlos syndrome who present with hypermobile skin and easy bruising. These patients may also have aortic pathology but usually in the form of aortic aneurysms. These may also be found in Marfan syndrome but is less common than the vascular form of Ehlers-Danlos syndrome. Answer 5: Obstructed cardiac output can result in sudden cardiac death in patients with hypertrophic obstructive cardiomyopathy. These patients would also present with presyncopal symptoms but would not have musculoskeletal manifestations such as arachnodactyly. Instead, patients may have a harsh systolic murmur during settings of increased cardiac output. Bullet Summary: Patients with Marfan syndrome have an increased risk of aortic dissection and should be treated with beta blockers and avoidance of contact sports.
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