Question

Which of these is the most common bicuspid aortic valve disease that is known to coexist with other congenital vascular defects?

Answer 1

Bicuspid aortic valve (BAV) disease is the most common congenital cardiac defect. While the BAV can be found in isolation, it is often associated with other congenital cardiac lesions. The most frequent associated finding is dilation of the proximal ascending aorta secondary to abnormalities of the aortic media. Changes in the aortic media are present independent of whether the valve is functionally normal, stenotic, or incompetent. Although symptoms often manifest in adulthood, there is a wide spectrum of presentations ranging from severe disease detected in utero to asymptomatic disease in old age. Complications can include aortic valve stenosis or incompetence, endocarditis, aortic aneurysm formation, and aortic dissection. Despite the potential complications, 2 large contemporary series have demonstrated that life expectancy in adults with BAV disease is not shortened when compared with the general population. Because BAV is a disease of both the valve and the aorta, surgical decision making is more complicated, and many undergoing aortic valve replacement will also need aortic root surgery. With or without surgery, patients with BAV require continued surveillance. Recent studies have improved our understanding of the genetics, the pathobiology, and the clinical course of the disease, but questions are still unanswered. In the future, medical treatment strategies and timing of interventions will likely be refined. This review summarizes our current understanding of the pathology, genetics, and clinical aspects of BAV disease with a focus on BAV disease in adulthood.
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