A 32-year-old man is evaluated for a murmur, which was found during a preventive examination. He has no symptoms, and his past medical history is insignificant. The patient smokes a pack of cigarettes per day. He has no family history of cardiovascular disease or sudden death. Blood pressure is 132/80 mm Hg and heart rate is 68/min. The patient's height is 178 cm. Body mass index is 31 kg/m2. A 2/6 ejection-type murmur is heard at the right upper sternal border. His physical examination is otherwise unremarkable. Transthoracic echocardiogram shows normal left atrial and left ventricular size, left ventricular ejection fraction of 60%, bicuspid aortic valve, and trivial aortic regurgitation. There is no evidence of aortic stenosis on Doppler echocardiography. For which of the following conditions should this patient be evaluated specifically?
A)Fibrillin gene mutation
B)Myosin gene mutation
C)Nonsustained ventricular tachycardia
D)Renal artery stenosis
E)Thoracic aortic aneurysm

Question

A 32-year-old man is evaluated for a murmur, which was found during a preventive examination.  He has no symptoms, and his past medical history is insignificant.  The patient smokes a pack of cigarettes per day.  He has no family history of cardiovascular disease or sudden death.  Blood pressure is 132/80 mm Hg and heart rate is 68/min.  The patient's height is 178 cm.  Body mass index is 31 kg/m2.  A 2/6 ejection-type murmur is heard at the right upper sternal border.  His physical examination is otherwise unremarkable.  Transthoracic echocardiogram shows normal left atrial and left ventricular size, left ventricular ejection fraction of 60%, bicuspid aortic valve, and trivial aortic regurgitation.  There is no evidence of aortic stenosis on Doppler echocardiography.  For which of the following conditions should this patient be evaluated specifically?
A)Fibrillin gene mutation
B)Myosin gene mutation
C)Nonsustained ventricular tachycardia
D)Renal artery stenosis
E)Thoracic aortic aneurysm

Quizplus · Accepted Answer

Explanation: 11ec2b69_c110_3d09_8f63_1386ebba7b8f_MD0005_00 Bicuspid aortic valve (BAV) is the most common congenital heart disease in adults, affecting about 1% of the general population. It can occur as an isolated lesion or in association with other congenital cardiovascular abnormalities, including coarctation of the aorta, sub- or supravalvular aortic stenosis, ventricular septal defect, and sinus of Valsalva aneurysm. BAV is also a risk factor for aortic dilation, with a reported prevalence of 20%-80%. Progressive aortic dilation can occur in the aortic sinuses, aortic root, or ascending aorta, leading to aortic aneurysm formation and risk for aortic dissection. Patients with BAV should have a thorough evaluation with echocardiogram, CT, or MRI imaging to assess the aortic root and ascending aorta for dilation. Bicuspid aortic valve (BAV) (Choice A) Mutations involving the fibrillin gene are seen in patients with Marfan syndrome. These patients are also at increased risk for dilation of the ascending aorta and aortic dissection. (Choice B) Myosin gene mutation is one of several gene mutations seen in patients with hypertrophic cardiomyopathy. (Choice C) This patient is asymptomatic and has normal left ventricular function. There is no indication for evaluation of this patient for nonsustained ventricular tachycardia. (Choice D) Renal artery stenosis is not found in association with BAV. Educational objective: Patients with bicuspid aortic valve are at risk for developing aortic dilation, aortic aneurysm, and aortic dissection, and should be screened with imaging of the aortic root and proximal aorta. References: The bicuspid aortic valve. (http://www.ncbi.nlm.nih.gov/pubmed/16129122)

A 32-Year-Old Man Is Evaluated for a Murmur, Which Was