From the Guidelines
Yes, patients who have a sibling with a bicuspid aortic valve should be screened with an echocardiogram. First-degree relatives (parents, siblings, and children) of individuals with BAV have approximately a 9-10% chance of also having this congenital heart defect, compared to about 1-2% in the general population 1. This familial clustering suggests a genetic component to BAV inheritance. Echocardiography is the gold standard for diagnosis as it can directly visualize valve morphology and assess for associated complications such as aortic stenosis, regurgitation, or aortic dilation. The screening should ideally be performed once in adulthood for asymptomatic individuals, but children with a family history may benefit from earlier screening.
Key Considerations
- The American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines recommends that first-degree relatives of patients with a bicuspid aortic valve should be evaluated for the presence of a bicuspid aortic valve and asymptomatic thoracic aortic disease 1.
- The 2014 AHA/ACC guideline for the management of patients with valvular heart disease also supports the use of echocardiography to evaluate valve morphology, measure the severity of AS and AR, and assess the shape and diameter of the aortic sinuses and ascending aorta for prediction of clinical outcome and to determine timing of intervention 1.
- Early detection through family screening allows for appropriate surveillance and timely intervention if needed, potentially preventing serious complications like severe valve dysfunction, aortic aneurysm, or dissection.
Screening Approach
- Echocardiography should include measurements of the aortic annulus, sinuses, sinotubular junction, and mid-ascending aorta.
- If the initial echocardiogram is normal, routine follow-up is generally not necessary unless symptoms develop.
- However, if BAV is detected, regular monitoring will be required based on the severity of valve dysfunction and any associated aortopathy.
From the Research
Screening for Bicuspid Aortic Valve
- Patients who have a sibling with a bicuspid aortic valve should be screened with an echo, as the condition can be heritable 2.
- Echocardiography is the first-line imaging modality for diagnosing bicuspid aortic valve and assessing valvular function and aortic diameter 3.
- Screening of siblings can help identify those with bicuspid aortic valve, allowing for early detection and management of potential complications such as aortic dissection and infective endocarditis 2, 4.
Benefits of Screening
- Echo screening among siblings of those with bicuspid aortic valve is effective and inexpensive, with a mean cost of $2109 per new case found 2.
- Screening can help lower the risk of complications such as dissection, although it comes at a moderate cost relative to benefits gained 2.
- Regular surveillance for progressive valvular disease and aortopathy is necessary for patients with bicuspid aortic valve, and screening of first-degree relatives can help identify those at risk 4.
Diagnostic Criteria
- Transthoracic echocardiography is the primary diagnostic tool for bicuspid aortic valve, and can help identify valve morphology and assess valvular function and aortic diameter 5.
- Echocardiography can also help identify concomitant aortopathy and valve dysfunction, which can lead to complications over time 5.