Diagnosis
Common Presentation: Incidental finding of a harsh systolic murmur in a young adult whose parent had a “heart valve replacement” at a relatively young age.
“Bicuspid aortic valve is the most likely cause of heart valve disease in this family. It is the most common congenital heart defect in the United States, with a prevalence of approximately 1%–2%. This valve disorder appears to have a genetic basis, with an autosomal dominant pattern of inheritance and incomplete penetrance. The children of a patient with a bicuspid aortic valve have about a 10% chance of having this condition; it is therefore recommended to screen first degree relatives of affected patients with echocardiography. Most patients with a bicuspid aortic valve will eventually have significant aortic valve dysfunction (stenosis or insufficiency) and/or aortopathy such as aortic root dilation. Rheumatic heart disease can also cause valve disease but its incidence is low in the United States, especially with appropriate treatment for streptococcal pharyngitis. Endocarditis is unlikely in the absence of systemic symptoms. Hypertension and coronary atherosclerosis are unlikely in this patient because of his normal blood pressure. These conditions also are more likely to cause obstructive coronary disease and heart failure than valve disease.
Losenno KL, Chu MW: Bicuspid aortic valve disease. CMAJ 2013;185(18):1599. 2) Otto CM, Prendergast B: Aortic-valve stenosis—From patients at risk to severe valve obstruction. N Engl J Med 2014;371(8):744-756.” ABFM critique