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Down syndrome
3%
11/439
Infection with Streptococcus pyogenes
2%
9/439
Marfan syndrome
11%
48/439
Systemic lupus erythematosis
6%
27/439
Turner syndrome
72%
317/439
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The most likely diagnosis in this case is coarctation of the aorta based on brachial-femoral delay and rib notching on chest radiograph. Turner syndrome is associated with a higher risk of coarctation. Hypertension can be divided into primary (essential hypertension) or secondary causes. The young age of onset in this case suggests that the etiology is more likely secondary to another derangement. Secondary hypertension can be caused by a wide variety of abnormalities including elevations of aldosterone (Conn syndrome, renal artery stenosis), elevations of epinephrine (pheochromocytoma, neuroblastoma), or vascular abnormalities (coarctation of the aorta, renal artery stenosis). The most important item to notice in this question stem is the significant difference between the brachial and the femoral blood pressure. This finding, known as brachial-femoral delay, is pathognomonic for aortic coarctation. This can present clinically as leg cramps and cold feet. The classic radiographic finding is rib notching. Coarctation is commonly associated with Turner syndrome and bicuspid aortic valve. Figure A shows a chest radiograph that demonstrates rib notching. Incorrect Answers: Answer 1: Down syndrome is primarily associated with atrioventricular septal defects, though it can also predispose to other cardiac abnormalities. The risk of vessel diseases such as coarctation is not known to be significantly increased in Down syndrome. Answer 2: Infection with S. pyogenes can lead to rheumatic heart disease. Rheumatic heart disease is associated with generalized carditis, particularly involving the mitral valve. Coarctation is not associated with rheumatic heart disease or in other post-infectious syndromes. Answer 3: Marfan syndrome is caused by a mutation in fibrillin and can lead to weakening of the extracellular matrix. Marfan is associated with aortic dissection and mitral valve prolapse. Answer 4: Systemic lupus erythematosus can cause an autoimmune mediated pericarditis as well as Libman-Sacks endocarditis. Coarctation is not a manifestation of lupus. MB Summary: Coarctation of the aorta presents with brachial-femoral delay manifesting as upper extremity hypertension and lower extremity vascular insufficiency. The key radiographic finding is rib notching. Coarctation is associated with Turner syndrome and with bicuspid aortic valves.
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