From the Guidelines
Yes, patients with a first-degree relative who has a bicuspid aortic valve (BAV) should be screened with an echocardiogram, as recommended by the 2021 ACC/AHA guideline for the management of patients with valvular heart disease 1. This recommendation is based on the significant genetic component of BAV, with approximately 9-15% of first-degree relatives of BAV patients also having the condition.
Key Points to Consider
- The screening echocardiogram should be performed once in adulthood, ideally in early adulthood, as BAV is a congenital condition present from birth.
- If the initial echocardiogram is normal, routine follow-up echocardiograms are not necessary unless symptoms develop.
- However, if BAV is detected, regular follow-up with a cardiologist is important to monitor for potential complications such as aortic stenosis, regurgitation, or aortic dilation.
- Early detection of BAV through screening allows for appropriate surveillance and timely intervention if needed, potentially preventing serious complications like heart failure, aortic aneurysm, or aortic dissection.
- The screening is non-invasive, relatively inexpensive, and provides valuable information about both valve structure and aortic dimensions.
Supporting Evidence
The 2021 ACC/AHA guideline 1 and the 2019 AHA/ACC guideline for the management of adults with congenital heart disease 1 support the recommendation for screening first-degree relatives of patients with BAV. Although older guidelines, such as the 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease 1, also discuss the importance of screening, the most recent and highest-quality evidence is prioritized.
Clinical Implications
In clinical practice, it is essential to consider the genetic predisposition of BAV and the potential benefits of early detection through screening. By identifying BAV in first-degree relatives, clinicians can provide appropriate surveillance and intervene timely if complications arise, ultimately improving morbidity, mortality, and quality of life outcomes.
From the Research
Screening for Bicuspid Aortic Valve
- Patients with a first-degree relative with a bicuspid aortic valve (BAV) should be screened with an echocardiogram (echo) as recommended by actual guidelines 2, 3.
- The prevalence of BAV in first-degree relatives is significant, with studies showing that up to 10.1% of siblings of children with BAV may also have the condition 3.
- Echocardiography is the imaging technique of choice to diagnose BAV, valve morphotype, and valvular dysfunction in clinical practice 4, 5.
- Screening with echo can help identify BAV and associated complications, such as aortic valve dysfunction and ascending aorta dilatation, in first-degree relatives 2, 6.
Effectiveness and Feasibility of Screening
- Studies have shown that screening of first-degree relatives of patients with BAV is effective and feasible in pediatric cardiology daily practice 2.
- The cost-effectiveness of echo screening among siblings of those with BAV has been evaluated, with estimated costs ranging from $17,461 to $1,136,536 per life-year saved 3.
- Screening with echo can help lower the risk of complications, such as dissection, although it comes at a moderate cost relative to benefits gained 3.
Recommendations for Screening
- Consensus guidelines recommend echocardiographic screening of first-degree relatives of patients with BAV 2, 3.
- The American College of Cardiology and American Heart Association guidelines also recommend screening of first-degree relatives of patients with BAV 5.
- A unified standard nomenclature for the BAV condition has been proposed to facilitate communication and diagnosis 5.