Quantcast

BAV and First Degree Relatives

Help Support ValveReplacement.org:

ElectLive

Well-known member
Joined
Jun 26, 2011
Messages
631
Location
Atlanta, GA
I saw a few threads from a few years ago that discussed this, but just thought I'd bring it up again to benefit any newly diagnosed BAV members. Most everyone probably knows that BAV is a genetic condition that can affect more than one member of a given family, although it can skip generations which makes it much harder to track, particularly when the generations before us had more limited or no access to imaging technology and may have had BAV without knowing it. In any case, evaluating first degree relatives for BAV has become fairly common, however, monitoring over time in the absence of a BAV diagnosis is much less so. Why is this important? Aortic aneurysms. Just because a relative does not have BAV does not mean that they will not have aorta dilation or an aneurysm.

It's probably also worth mentioning that the diagnosis of BAV and aorta dilation are often not easily accomplished. While some are diagnosed with BAV at birth, as a child, or in early adulthood because of a murmur, many people have a BAV that is never diagnosed until the symptoms of valve failure appear, not too long before surgery. A dilation or aneurysm of the thoracic aorta is even harder to diagnose, with at a minimum an echo needed, and sometimes a CT or MRI. Anyway, I'm rambling a bit, but I bring all of this up again for a reason: to encourage everyone born with BAV, who has not already done so, to have their first degree relatives meet with a cardiologist for evaluation of these conditions, and also to discuss a monitoring schedule over time depending on age. Unfortunately, the genetics behind it all are a somewhat inexact science, any markers that have been found are generally seen only in a relatively small percentage of cases, and various mutations further complicate things. So, a single genetic test doesn't solve the problem, leaving imaging evaluation as the best option.

But, enough of my discussion, this is best explained by a team of medical experts, so here is what they have to say and recommend:

6.1. Recommendations for Bicuspid Aortic Valve and Associated Congenital Variants in Adults

1. First-degree relatives of patients with a bicuspid aortic valve, premature onset of thoracic aortic disease with minimal risk factors, and/or a familial form of thoracic aortic aneurysm and dissection should be evaluated for the presence of a bicuspid aortic valve and asymptomatic thoracic aortic disease.

2. All patients with a bicuspid aortic valve should have both the aortic root and ascending thoracic aorta evaluated for evidence of aortic dilatation.

Bicuspid aortic valves is the most common congenital abnormality affecting the aortic valve and the aorta and is found in 1% to 2% of the population. Nine percent of patients have family members who also have bicuspid aortic valves. The ACC/AHA Valvular Heart Disease Guidelines specifically address this condition. Of importance to this guideline, bicuspid aortic valves can be inherited in families as an autosomal dominant condition and may be associated with thoracic aortic aneurysm formation. It is important to note that in these families, members can have thoracic aortic aneurysms in the absence of bicuspid aortic valves. The valves are prone to either aortic valve regurgitation, most commonly seen in younger patients, or aortic valve stenosis, more common in older patients. Bicuspid aortic valve repair for regurgitation has excellent long-term results, an important consideration in the absence of prosthetic aortic valve alternatives in this young population. The most common site of fusion of the leaflets is at the left and right leaflet commissure, and less so at the right noncoronary leaflet commissure. The latter is typically more often associated with aortic valve stenosis.

In a study of 2000 patients at the Cleveland Clinic who underwent bicuspid aortic valve surgery, 20% had concurrent ascending aortic aneurysms that required repair. AoD [dissection] is also common, and as many as 15% of patients with acute AoD have bicuspid aortic valves, a frequency more common than Marfan syndrome. AoD was present in 12.5% of patients with bicuspid valves with an aortic diameter less than 5 cm, reminiscent of patients with Marfan syndrome in whom 15% had AoD at a size less than 5 cm. The writing committee discussed the potential need to screen relatives of patients who have undergone aortic valve replacement before age 70, as these younger patients were more likely to have had bicuspid aortic valve as their primary pathology. However, 40% of women and around one third of men over age 70 undergoing aortic valve replacement have bicuspid aortic valve disease. The yield from screening relatives of younger patients with bicuspid aortic valve disease compared with relatives of older patients is not known.


Monitoring frequency over time for the aorta in first degree relatives of BAV patients still seems to be the big question that remains. For those with a definitively known genetic syndrom (such as Marfan, Loeys-Dietz, Ehlers-Danlos, and Turner), the following recommendation is given:

Most syndromes and familial forms of thoracic aortic disease are inherited in an autosomal dominant manner. Therefore, an individual with an inherited predisposition to thoracic aortic aneurysm and dissections has up to a 50% risk of passing on this predisposition to their children, which is the basis for genetic evaluation of the offspring. In addition, siblings and parents of the patient need to be evaluated for possible predisposition to thoracic aortic aneurysm and dissections. Because of the variable age of onset of aortic disease in familial thoracic aortic aneurysms and dissections, the writing committee believes that imaging of family members at risk of the disease every 2 years is warranted.

But that recommendation is for those syndromes, not specifically BAV, although BAV can also be autosomal dominant. I did a little inquiry of my own with my own cardiologist, my daughters' pediatric cardiologist, as well as two others at the Cleveland Clinic, and received the following suggestions: siblings/parents in adulthood should have an initial evaluation then follow-up every ten years and children should be evaluated at birth, then follow-up at 5 years and after the growth spurt. In both cases, this follow-up is specific to those with no BAV or aortic dilation. Obviously, for anyone with a diagnosis of BAV or aortic dilation/aneurysm, the follow-up would be much more often.

The source for both of the above recommendations is the ACC/AHA 2010 Guidelines for Patients with Thoracic Aorta Disease.
 

Lynlw

VR.org Supporter
VR.org Supporter
Joined
Jul 15, 2005
Messages
6,541
Location
NJ
Thanks for starting this thread. A really good site with all kinds of info on Bicuspid Aorti valve disease -patients and families is http://bicuspidfoundation.com/Bicuspid_Aortic_Valve_Disease.html There is alot of great info and links to the latest articles and studies as well as info on what other body parts MAY be affected, or that they see trends in so probably are related like near-sited eyes, kidney brain annuerysm etc.
 

ElectLive

Well-known member
Joined
Jun 26, 2011
Messages
631
Location
Atlanta, GA
Thanks Lyn. I'd read about the brain aneurysm connection as well, but according to one of the cardiologists at Cleveland Clinic, it has not yet been adequately studied so no screening is currently recommended by any of the national guidelines. But it will be interesting to see how that develops as time goes on.
 

skeptic49

VR.org Supporter
VR.org Supporter
Joined
Aug 8, 2008
Messages
3,014
Location
Philadelphia, PA and Cherry Grove, Fire Is. NY
BAV Podcast Tomorrow

BAV Podcast Tomorrow

Specialized Care for Patients and Family Members with Bicuspid Aortic Valve Disease
2/21/2012

To hear the Webcast on 2/21/2012 go to:

http://www.patientpower.info/progra...s-with-bicuspid-aortic-valve-disease?r=byDate

Program Overview:

In this podcast, Dr. Jyothy Puthumana explains how individuals born with bicuspid aortic valve (BAV) may be at risk for future valve damage and aortic aneurysms. Complications include narrowing of the valves (called aortic stenosis), incomplete valve closure causing leaking of the valves (called aortic regurgitation) and also increased risk of infection of the abnormal valve leaflets. Additionally, he will discuss the association of BAV disease and aortic aneurysms. Dr. Puthumana also highlights the comprehensive program components and goals of Northwestern’s Bluhm Cardiovascular Institute BAV Program for patients and family members.



Experts and Guests:
Jyothy J. Puthumana, MD Jyothy J. Puthumana, MD
Medical Director of Northwestern’s Bluhm Cardiovascular Institute BAV Program, Northwestern Memorial Hospital
Dr. Jyothy Puthumana is medical director of Northwestern’s Bluhm Cardiovascular Institute BAV Program and assistant professor of medicine, division of cardiology at Northwestern University Feinberg School of Medicine. Dr. Puthumana's special interests include lipid management, nuclear cardiology, echocardiography and disease prevention. Dr. Puthumana has conducted research at Harvard Medical School in Boston and St. Luke's Roosevelt in New York City.... more >
 

Gregg

Member
Joined
Jan 31, 2012
Messages
17
Location
Saint Charles, IL
My surgery was just over two weeks ago and my sister went in for an echo yesterday. Sure enough she has a BAV but fortunately no leaking or stenosis. My surgeon said that only 1/3 of BAV patients will require surgery at some point in their life...hopefully this will apply to her as well. Spoke to my brother to give him the news and he said "I can see where this conversation is heading...."
 
Top