Goal 2: Reduce Human Disease

Decline in autopsies is an obstacle to understanding bicuspid aortic valve and thoracic aortic disease.

Greater understanding of the incidence, associated mortality, and unique characteristics of bicuspid aortic valve (BAV) and thoracic aortic disease are needed. An increase in autopsies would be an important source in advancing understanding.

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

Details on the impact of addressing this CQ or CC

The implications of the decline in autopsies were recently described in the Wall Street Journal article “What Autopsies Can Teach”,(March 9, 2015). The incidence and implications of BAV, as well as other subtle malformations of the aortic valve not typically detected by imaging or noted in surgery reports, would benefit from better characterization. In addition, BAV is associated with sudden death due to aortic dissection and rupture, as well as complications due to aortic valve disease (stenosis or regurgitation). Prior to the advent of surgery and imaging technology, clinicians were informed through autopsies, and much of their findings regarding BAV and thoracic aortic disease remain relevant. However, to advance further, autopsies remain an invaluable information source. In the absence of autopsies, the opportunity to meticulously examine the aortic valve, other heart valves, and aortic anatomy are lost. Due to the prevalence of coronary artery disease, it is important to separate valvular and aortic deaths from those due to myocardial infarction.

Feasibility and challenges of addressing this CQ or CC

Active participation of families who would benefit from clarification of the condition of blood relatives at death, possibly including incorporation of new capabilities such as genetic analysis of tissue, would be possible immediately if this were given priority in the medical community. Given the estimated prevalence in the population, the understanding gained would benefit not just immediate family members, but the general public. Cost may be viewed as an obstacle, as well as medicolegal concerns. However, in light of incomplete data and understanding, answers found in death may be invaluable gifts to the living now and for generations to come.

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

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Idea No. 621