Showing 5 ideas for tag "thoracic"

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... more »

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

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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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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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Goal 2: Reduce Human Disease

Controversies exist regarding thoracic aortic disease imaging

Controversies exist regarding aortic disease imaging (the aorta as well as the aortic valve, including characterization in the presence of a bicuspid aortic valve (BAV)). Many imaging approaches are optimized for evaluation of coronary artery disease rather than aortic disease. Without accurate characterization, the degree of disease progression may be under estimated, patient symptoms may be discounted, and those who... more »

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

Details on the impact of addressing this CQ or CC

Imaging specifically tailored to BAV and the thoracic aortic aneurysm population is needed. This includes efforts to identify subtle forms of aortic valve malformation such as the “forme fruste” BAV as described by Sperling and Lubet.

  1. Echocardiogram is a useful noninvasive imaging tool, however, it is believed to miss detection of as many as 50% of BAVs.
  2. The exercise echocardiogram is useful for evaluation of wall motion abnormality, which may be present in those with coronary artery disease or other underlying sources of myocardial injury. However, this is not a common issue in those with BAV. Rather, accurate assessment of BAV function is necessary. Pressure testing for eccentric AI and the short axis view of the AV area, including clear visualization of both the open and closed valve, may not be employed, and consequently clarity of BAV functioning is not achieved.
  3. Although there are open questions about aortic size relative to timing of elective surgery, size of the aorta is a diagnostic parameter, and is frequently done via CT imaging. CT images are typically captured in diastole, which is appropriate for coronary artery disease. However, the aorta will be undersized if measured in diastole. Measurement of the aorta in systole captures the aorta when most distended.
  4. Other considerations, such as the presence of bovine arch anatomy, may not be noted, since their relevance may not be appreciated.
Feasibility and challenges of addressing this CQ or CC

Current imaging technology is widely available in most medical communities. It is very feasible, by focusing on valvular and aortic conditions separately from coronary artery disease, to optimize imaging for these conditions and make these imaging approaches broadly available to patients.

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

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Goal 2: Reduce Human Disease

Controversies exist regarding the treatment of the thoracic aorta in those with bicuspid aortic valve

Controversies exist regarding the treatment of the thoracic aorta in those with bicuspid aortic valve (BAV), in particular: 1) conflicting views regarding criteria for elective surgery, particularly aneurysm size 2) extent of thoracic aortic aneurysm repair.

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

Details on the impact of addressing this CQ or CC

This is a population that may approach 6 million Americans, without inclusion of their trileaflet aortic valve blood relatives. The controversy generally revolves around when to intervene surgically to prevent an aortic catastrophe, and how much of the ascending aorta should be removed (will any residual ascending aorta enlarge over time, and if so, what risk does this represent versus another aortic surgery later?).

Compounding this is the recognition in the literature of significant percentages of aortic dissection at sizes occurring below the guidelines for elective surgery. Patients do not realize that sometimes they are told to wait for elective surgery based on a size difference roughly as small as the thickness of a nickel (approximately 2 mm) or a dime (just over 1 mm).

The implications of this uncertainty in their treatment are staggering, particularly in light of the potential consequences for the most vulnerable individual, which include sudden death. Even those who survive an aortic emergency, with a chronically damaged aorta, face a very different future from that of someone with a non-emergent aortic repair with no residual aortic injury. Surgical uncertainty regarding the aorta should also consider valve surgeries needed by some individuals, and the total number of surgeries an individual may ultimately face.

Many with BAV are vibrant and active, if they avoid premature injury or death. Their disability or loss robs society of their many gifts.

Feasibility and challenges of addressing this CQ or CC

The medical literature reflects varying information and findings, perhaps due in part to the spectrum of expression across this large population, and the characterization of relatively small numbers of individuals under varied scenarios. Some may be carefully followed and receive medical treatment for blood pressure. Others may not receive those benefits, some being diagnosed only in emergency settings. Greater consistency in knowledge and treatment would benefit individuals and families. Advancements are very feasible within a five to ten year period and could greatly benefit the future of those undergoing surgery.

In the interim, patients are empowered when they understand these controversies: the known data regarding aortic size and dissection, and the considerations around the extent of aortic removal, and are fully engaged in elective surgery decisions.

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

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Goal 2: Reduce Human Disease

Bicuspid aortic valve is not a “one size fits all” condition. Variations exist within families and the population generally.

Clinical disease manifestations in individuals and families where bicuspid aortic valve is present may best be described as a spectrum, with considerable variability in presentation. Patients and families would benefit from an individualized approach, which does include familial medical history, but couples that information with current best understanding of BAV, considering both variations and risks.

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

Details on the impact of addressing this CQ or CC

This variability of aortic disease expression (aorta and valve), while amenable to trend analysis, does not lend itself well to a “one size fits all” approach to care. Some individuals and families display other characteristics in their body suggestive of additional complexity. Brain aneurysms are also mentioned in the literature in the presence of BAV.

Braverman’s article, “Guidelines for management of bicuspid aortic valve aneurysms: what’s the clinician to do?” highlights the variation in guidelines regarding elective aneurysm surgery in BAV patients, discusses why “one size fits all” is not appropriate, and supports the importance of an individualized approach.

Individuals and families face some degree of distress, most particularly those stricken by the serious injury or death of a loved one, and anguish over their future. Some, told surgery was many years away, or that they were fixed for life, have lived to discover those well intentioned words were far from accurate. Others, diagnosed with BAV, have lost their lives.

Individualized care, rather than general statements meant to reassure a large and varied population, is important in order to live confidently and proactively continue with follow up. An approach to care that does not use “always” and “never” thinking, and that avoids predictions interpreted as fact, will do a great deal to instill confidence and engagement in BAV individuals and families, who make life decisions based on what they are told.

Feasibility and challenges of addressing this CQ or CC

This is an intelligent population that is well suited to grasp the issues and participate in decision making. Patients and families desire to be told accurately what is and is not known, to be assessed individually, and to have greater understanding of the implications for blood relatives. They desire to have an informed voice in their treatment decisions, including the timing of elective surgery based on surgical risk versus the risk of living with the disease

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

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