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Bicuspid aortic valve
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Dilation of the aortic root
Endocarditis due to drug use
Overproduction of dermatan sulfate
Rheumatic heart disease
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This asymptomatic patient who presents with an apical mid-systolic click and late crescendo murmur that increases with Valsalva maneuver most likely has mitral valve prolapse. This disease can be caused by idiopathic overproduction of dermatan sulfate. The murmur heard in mitral valve prolapse is caused by the presence of redundant valvular tissue that results in bulging of one or both leaflets into the left atrium during systole. Common sources of the extra tissue include excess production of valve substance (dermatan sulfate) and myxomatous degeneration of the existing leaflets. Patients are often asymptomatic young women who have a murmur detected on physical exam. The murmur is classically an apical mid-systolic click and late crescendo murmur that increases in intensity with the Valsalva maneuver (forceful breathing against a closed airway). Grande-Allen et al. discuss the molecular abnormalities underlying mitral valve prolapse. They find that increased glycosaminoglycan content of leaflets is a leading cause of this disorder. Incorrect Answers: Answer 1: Bicuspid aortic valves predispose young patients to the development of aortic stenosis. This will present with syncope, angina, dyspnea, and a crescendo-decrescendo systolic murmur best heard on the right sternal border in the 2nd interspace with radiation to the carotids. Answer 2: Dilation of the aortic root can result in aortic regurgitation. This will present with wide pulse pressure and an early diastolic decrescendo murmur best heard on the left sternal border in the 4th interspace. Head bobbing and waterhammer pulses may be present. Answer 3: Endocarditis due to drug use can result in tricuspid regurgitation. This will present with edema due to the accumulation of fluid in systemic veins and a holosystolic murmur best heard on the left sternal border in the 6th interspace. Answer 5: Rheumatic heart disease can result in mitral stenosis. This can present with atrial arrhythmias due to dilation of the left atria and a diastolic opening snap and delayed rumbling best heard at the left mid-clavicular line in the 6th interspace. Bullet Summary: Mitral valve prolapse is caused by the presence of redundant valvular tissue such as through overproduction of dermatan sulfate or myxomatous degeneration.
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