Goal 2: Reduce Human Disease

Recognition of bicuspid aortic valve's complexity, life threatening potential, and familial implications.

There is a persistent perception that bicuspid aortic valve (BAV), the most common congenital heart defect (estimated to occur in up to 6 million Americans), is a benign condition that may not require treatment until later in life, if at all. The implications for other blood relatives, although referenced in medical literature, may not be acknowledged. This notion, coupled with the inability to identify those most at risk of sudden injury or death from valvular or aortic complications, endangers the lives of the most vulnerable. The minimal impact of the presence of BAV in some must not be allowed to jeopardize those who face significant challenges and risk to their well being and longevity.

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? Critical Challenge (CC)

Details on the impact of addressing this CQ or CC

On the contrary, the presence of BAV should serve as a warning for potentially very serious issues for the individual and their blood relatives, including those with apparently normal trileaflet aortic valves. Childhood heart murmurs, deemed innocent and forgotten, may in fact be the first hint of a malformed aortic valve. Some born with BAV will undergo not just one but multiple surgeries, and some will lose their lives. Others in the family, considered trileaflet, may develop aortic aneurysm and experience dissection.
Despite an estimated incidence of up to 2% of the population and prevalence in males, there is no well-defined screening for this condition, leaving undiagnosed individuals vulnerable to endocarditis, valvular disease, and aortic dissection or rupture. Aortic coarctation may also be present and remain undetected for varying periods of time. Brain aneurysms have been found in some BAV families.

Those diagnosed with BAV may not be offered, or fail to seek, follow up care. Enjoying generally good health, they may fail to secure health insurance, believing they are not at risk, and find themselves with very limited options when abruptly confronted with the need for surgery.

Feasibility and challenges of addressing this CQ or CC

This condition is not rare and will be commonly encountered in the community. Enough is currently known to alert medical professionals as well as the public of potential complications in individuals and blood relatives. The challenge is to overcome the perception, however well meant, that there is no need for concern, especially at younger ages.

Name of idea submitter and other team members who worked on this idea Arlys Velebir, Bicuspid Aortic Foundation

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Idea No. 619