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Answer: C, Bicuspid aortic valve
Educational Objective: Diagnose bicuspid aortic
Critique: This patient most likely has a
bicuspid aortic valve. Bicuspid aortic valve is the most common
congenital heart lesion, occurring in approximately 0.5% to 2% of
the general population. It is the second most common cause of
aortic stenosis after calcific degeneration of a tricuspid aortic
valve and the second most common cause of aortic regurgitation
after aortic root dilation. Many patients with a bicuspid aortic
valve are asymptomatic, with the diagnosis being suggested based on
incidentally noted auscultatory findings. The presenting murmur
depends on the degree of valve dysfunction, with a systolic
ejection murmur that varies in intensity, ranging from minimal flow
disturbance to findings consistent with the murmur of aortic
stenosis as the degree of outflow obstruction increases. A
diastolic murmur may occur if aortic valve incompetence with
regurgitation is present, as in this patient. Bicuspid aortic valve
has an increased prevalence associated with congenital lesions such
as aortic coarctation, interrupted aortic arch, and Turner
syndrome. More than 70% of patients with a bicuspid aortic valve
will require surgical intervention for a stenotic or regurgitant
valve or aortic pathology over the course of a lifetime. The
presence of a bicuspid aortic valve increases the risk for aortic
stenosis or regurgitation, and stenosis proceeds at a faster rate
when the aortic valve is bicuspid. The risk for infective
endocarditis also is increased in these patients. In addition,
bicuspid aortic valve is associated with aortopathy and a
predisposition to aneurysm formation and thoracic aortic
Adults with previously undiagnosed aortic coarctation may
present with hypertension or a murmur. Palpation of reduced femoral
pulses and measurement of discrepant blood pressures during routine
examination are helpful in raising suspicion for the diagnosis. The
murmur associated with coarctation may be nonspecific but is
usually a systolic murmur in the left infraclavicular area and
under the left scapula.
The murmur associated with an atrial septal defect is a
midsystolic flow murmur caused by the ejection of increased
right-sided volume, owing to the left-to-right shunt that occurs
initially with this defect. This murmur is best heard over the
pulmonic area of the chest and may radiate toward the back, as with
the murmur of pulmonary stenosis. The most characteristic finding
on auscultation in patients with an atrial septal defect is a fixed
The murmur of mitral stenosis is a diastolic low-pitched
decrescendo murmur heard best in the left lateral decubitus
position. With mitral stenosis, S1 has increased
intensity and S2 is normal. The opening snap, which is
due to forceful opening of the mitral valve, occurs when the
pressure in the left atrium is greater than the pressure in the
left ventricle. As the severity of the mitral stenosis increases,
the pressure in the left atrium increases, and the mitral valve
opens earlier in ventricular diastole.
Key Point: A bicuspid aortic valve is often
discovered incidentally; the murmur depends on the degree of valve
dysfunction, with a systolic ejection murmur that may range from a
minimal flow disturbance to findings consistent with the murmur of
aortic stenosis as the degree of outflow obstruction increases.
Siu SC, Silversides CK. Bicuspid aortic valve disease. J Am Coll
Cardiol. 2010 Jun 22;55(25):2789-800. [PMID: 20579534]
September International Newsletter