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Holosystolic, high-pitched blowing murmur at the lower left sternal border
10%
3/31
Late systolic crescendo murmur at the apex with mid-systolic click
23%
7/31
Mid-diastolic murmur at the apex with opening snap
6%
2/31
Mid-diastolic murmur at the left lower sternal border
29%
9/31
Systolic ejection murmur at the right second intercostal space
Select Answer to see Preferred Response
This patient presents with tall stature, joint hypermobility, and new tearing chest pain with weak distal pulses, which suggests a diagnosis of Marfan syndrome complicated by new aortic dissection. Patients with Marfan syndrome are at higher risk of mitral valve prolapse, which presents as a late systolic crescendo murmur at the apex with a mid-systolic click. Mitral valve prolapse is common in Marfan syndrome and may or may not be associated with mitral regurgitation. In young children with severe forms of Marfan syndrome, the mitral valve prolapse and resulting regurgitation can be severe enough to cause heart failure, which is a major cause of morbidity and mortality in this population. Cystic medial necrosis of the aorta in Marfan syndrome also commonly leads to several aortic pathologies, including aortic root dilation, aortic regurgitation, and aortic dissection. Incorrect Answers: Answer 1: A holosystolic, high-pitched blowing murmur at the lower left sternal border reflects tricuspid regurgitation, which is usually due to pulmonary hypertension secondary to left-sided heart disease. Aortic and mitral regurgitation, rather than tricuspid regurgitation, are commonly found in Marfan syndrome. Answer 3: A mid-diastolic murmur at the apex with opening snap reflects mitral stenosis, which is most commonly caused by rheumatic heart disease. Mitral valve prolapse and mitral regurgitation are more common in Marfan syndrome and are both systolic murmurs. Answer 4: A mid-diastolic murmur at the left lower sternal border reflects tricuspid stenosis, which is also commonly caused by rheumatic heart disease. Right-sided heart disease is not common in Marfan syndrome. Answer 5: A systolic ejection murmur at the right intercostal space reflects aortic stenosis, which may be caused by calcification or a congenitally abnormal bicuspid valve. Aortic regurgitation, which is a diastolic murmur, is more common in Marfan syndrome. Bullet Summary: Patients with Marfan syndrome have an increased risk of both aortic regurgitation (diastolic murmur at the right second intercostal space) and mitral valve prolapse (late systolic murmur with mid-systolic click).
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