A 23-year-old man presents to the clinic with chest pain and dyspnea on exertion for the past several weeks. Past medical history is negative, and he does not take any mmedications. He does report that similar symptoms are common in his family. He denies smoking cigarettes or drinking alcohol. Vital signs are within normal limits. Physical examination reveals a crescendo-decrescendo murmur heard at the base of the heart during systole. Which of the following underlying conditions predisposes the patient to these symptoms?
E) Patent ductus arteriosus
The patient is presenting with aortic valve stenosis. The bicuspid aortic valve is one of the most common types of congenital heart disease and predisposes patients to aortic stenosis and/or regurgitation. There is a strong heritable component to bicuspid aortic valve disease. It may occur sporadically or as an autosomal dominant inherited disorder with variable penetrance. Clinical presentation can range from asymptomatic auscultatory findings to symptoms such as dyspnea, decreased exercise tolerance, angina, or syncope. It may also present with bacterial endocarditis or ascending aortic aneurysm.
Answer choice B: Down syndrome, is incorrect. Down syndrome does not increase the risk for aortic stenosis bu does increase the risk of having atrial septal defects. The patient would also present with other physical findings such as flat facies, prominent epicanthal folds, and a single palmar crease.
Answer choice C: Edward syndrome, is incorrect. Patients with Edward syndrome usually present with ventricular septal defects. Ventricular septal defect murmurs present with a holosystolic, harsh-sounding murmur in the tricuspid area. A patient with Edward syndrome would not be expected to live past the age of one year old.
Answer choice D: Marfan syndrome, is incorrect. Marfan syndrome does not predispose patients to aortic stenosis but does predispose to mitral valve prolapse. The murmur of mitral valve prolapse is a late systolic crescendo murmur that is best heard over the apex of the heart.
Answer choice E: Patent ductus arteriosus, is incorrect. Patent ductus arteriosus presents with a continuous machine-like murmur and is usually due to congenital rubella or premature birth.
Key Learning Point
Bicuspid aortic valve is a common congenital heart disease that is heritable and can be asymptomatic or present with symptoms of valve dysfunction are severe. It can lead to aortic stenosis or aortic regurgitation.
