Open BAV

The opening of a BAV resembles the open mouth of a fish, leading to the term “fish mouth” valve.

Some Common Questions about BAV Can BAV be found just by looking at someone? By just looking, it is not possible to tell if someone has this condition. Unlike some other connective tissue disorders, there are no strikingly obvious outward characteristics of this disease. Those with BAV may be short, average in height, or tall. They may have a slight, average, or large body size. Listening to their chest sometimes provides an important clue. If the blood makes an unusual sound as it flows through the bicuspid aortic valve, this sound or heart murmur can be heard. However, blood may also flow quietly through the bicuspid aortic valve, without a murmur. Many people with BAV are good athletes and enjoy exercise and work outs at the gym. It is understandably difficult for those who have BAV to reconcile this contradiction in their body: strong, healthy muscles and flexible joints along with a defective aortic valve and very fragile aortic tissue. Is Bicuspid Aortic Valve inherited? This condition also appears to be inherited within families, although not everyone in a family will have it. It is important to consider the entire family when one person is found to have a BAV. Since it may not be found early in life or appear in every generation, going beyond the immediate family (father, mother, brothers, sisters) to include grandchildren, nieces, nephews, and cousins when checking for BAV is wise. Historically, the bicuspid aortic valve has been the main identifier of this form of aortic disease. However, as entire families are studied, thoracic aortic aneurysms and aortic dissection have been found in family members with normal appearing trileaflet aortic valves. The following abstract, published in 2007, documents this: Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance, Loscalzo ML, Goh DL, Loeys B, Kent KC, Spevak PJ, Dietz HC, Am J Med Genet A. 2007 Sep 1;143A(17):1960-7 When did they get this? It is a condition present at birth. It was there when they were born, although it may not have affected them until years later. Something happened before birth, as their hearts, blood vessels, and other parts of their bodies were forming. Within the cells of the body, exactly what happened, why it happened, and what currently is happening remain open questions. Genetic studies are currently underway in various centers, seeking to understand the origin. Much more research is needed. However, today we recognize and have treatment for the most potentially devastating aspects of this disease: bicuspid aortic valve failure, possible failure of the mitral or other heart valves, aortic aneurysm, aortic dissection, and brain aneurysm. Medical and surgical advances have extended the lives of those with bicuspid aortic disease. As they live longer, it is not known if and how this condition will continue to progress. Follow up care from experts is needed throughout their lives. BAV ranges from those who may live their entire life without ever knowing they have it, to those who need a procedure in infancy for severe narrowing of their bicuspid aortic valve. These are the two extremes. In between are those who will need some variation of the following: • their aortic valve repaired or replaced • some part of their thoracic aorta replaced - most often the ascending aorta • repair of coarctation of the aorta • other procedures, such as repair or replacement of their mitral valve • treatment for brain aneurysm or dissection of head and neck vessels Research has begun on those with BAV who also develop complications of the head and neck vessels: brain aneurysms and dissection of head and neck vessels. Some day, research will unlock the mysteries of this condition. But for now, since it is still not fully understood, it is important to keep an open mind regarding this condition and its affects on families who have it. How is Bicuspid Aortic Valve Found in Families? Often, it is first identified when a bicuspid aortic valve is found in a family member, putting the entire family on alert. Sometimes an ascending aortic aneurysm is detected, and as this is being investigated, a bicuspid aortic valve is also noticed. The aorta, as well as the aortic valve and other heart valves, all are evaluated as part of the screening for this condition. Echocardiography, which creates images of the heart with sound waves, is often the first test done that identifies a bicuspid aortic valve. This may be done because a heart murmur has been heard, or because there is another reason to evaluate the heart valves and chambers. The ascending aorta may also be imaged this way, and any enlargement noted. Echocardiography does not always detect a bicuspid aortic valve, especially if the fusion of the leaflets is subtle. It often does not include the ascending aorta. MRI or CT provide a complete look at the aorta. CT or MRI scans are used to obtain the most accurate images of the aorta. A spiral CT scan with contrast or an MRI both produce images of the entire aorta. MRI technology is advancing rapidly and some centers now have expertise that allow imaging of the heart valves and heart as well as the aorta. In addition, it is not known how many people who are blood relatives of someone with an obvious BAV suffer aortic aneurysm or dissection.

Closed BAV

When closed, it may be difficult to distinguish a BAV from an aortic valve with all three leaflets.

BAV and Athletes It is very possible that someone with BAV is present at sporting events of all kinds. Many of them are serious athletes.

BAV is Common It is very likely that you know someone with BAV. It could even exist in your family or extended family without you knowing about it.