What is the management plan for a patient with a missed diagnosis of bicuspid aortic valve on echocardiogram?

From the Guidelines

The management plan for a patient with a missed diagnosis of bicuspid aortic valve (BAV) on echocardiogram should begin with obtaining a repeat, high-quality transthoracic echocardiogram by an experienced sonographer, with specific attention to aortic valve morphology, as recommended by the 2014 AHA/ACC guideline 1.

Initial Evaluation

• A repeat transthoracic echocardiogram is essential to confirm the diagnosis and assess the morphology of the aortic valve and the diameters of the aortic root and ascending aorta, as stated in the 2008 ACC/AHA guidelines 1.
• If uncertainty persists, a transesophageal echocardiogram or cardiac magnetic resonance imaging (MRI) may be performed for better visualization, as suggested by the 2014 AHA/ACC guideline 1.

Surveillance and Monitoring

• Patients with confirmed BAV require regular surveillance with echocardiography every 1-2 years to monitor for valve dysfunction (stenosis or regurgitation) and ascending aortic dilation, which commonly accompanies BAV, as recommended by the 2008 ACC/AHA guidelines 1.
• Cardiac MRI or CT angiography should be performed at diagnosis and periodically thereafter to assess the entire aorta, as BAV patients have increased risk of aortopathy, as stated in the 2014 AHA/ACC guideline 1.

Medical Management

• Blood pressure control is essential, typically using beta-blockers (such as metoprolol 25-100mg twice daily) or ACE inhibitors/ARBs to reduce hemodynamic stress on the aorta, as recommended by the 2008 ACC/AHA guidelines 1.
• Endocarditis prophylaxis is no longer routinely recommended for uncomplicated BAV but may be considered in high-risk cases.

Surgical Intervention

• Surgical intervention is indicated when the aortic diameter reaches 5.0-5.5cm (or at smaller diameters if there's rapid growth >0.5cm/year), or when severe valve stenosis or regurgitation develops, as recommended by the 2014 AHA/ACC guideline 1.

Family Screening

• First-degree relatives should undergo echocardiographic screening due to the heritable nature of BAV, as stated in the 2008 ACC/AHA guidelines 1.

From the Research

Management Plan for Missed Diagnosis of Bicuspid Aortic Valve on Echocardiogram

The management plan for a patient with a missed diagnosis of bicuspid aortic valve on echocardiogram involves several key steps:

• Initial evaluation: Assess the severity of valve dysfunction, including aortic stenosis (AS) and aortic regurgitation (AR), as well as the presence of aortic dilation 2.
• Surveillance: Yearly surveillance transthoracic echocardiography to monitor left ventricular function, jet velocity, gradient, and valve area for patients with AS, and left ventricular function and dimensions for patients with AR 2.
• Clinical evaluation: Regular clinical evaluation for changes in symptom status or functional capacity, and consideration of NT-pro BNP levels to assess patients with mismatched anatomic severity and clinical symptoms 2.
• Aortic evaluation: Evaluation of the aorta with MRI or CT angiography, with cardiac MRI preferred in younger patients due to cumulative radiation exposure from surveillance CT scans 2.

Imaging and Follow-up

• For patients with no aortic dilatation, echocardiography is used for follow-up 2.
• For patients with mild aortic dilation, surveillance aortic imaging is performed every 3-5 years 2.
• For patients with greater degrees of aortic dilation or notable interval change in dimensions, aortic imaging is conducted every year 2.
• The use of echocardiography, CT, or MRI for surveillance is critical, but variability in practice has been observed, with some patients not receiving regular follow-up or surveillance imaging 3.

Treatment Options

• For young adult patients with isolated aortic stenosis, balloon aortic valvuloplasty may be an effective and temporizing treatment option 2.
• For older patients with aortic stenosis or those with AR, aortic valve replacement, with or without surgery on the aorta, is the preferred management strategy 2.
• In some cases, surgery on the aortic alone may be indicated if the maximal diameter exceeds 5.0 cm 2.
• Medical treatment with beta-blockers and statins may also be considered, particularly for patients with elevated cholesterol or C-reactive protein 4.

Importance of Rigorous Follow-up

• Rigorous follow-up throughout life is mandatory after bicuspid aortic valve has been diagnosed, due to the risk of progressive valvulopathy and aortopathy 4.
• The incidence of aortic complications, including dissection and aneurysm, is higher in patients with bicuspid aortic valves than in the general population, emphasizing the need for regular surveillance and follow-up 5.