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An ancient genetic mystery: Why do bicuspid aortic valves run in families?
Among many heart diseases, the bicuspid aortic valve (BAV) is undoubtedly one of the most interesting. It is estimated that about 1.3% of adults are affected by this congenital heart defect, making it the most common heart condition present at birth. BAV is characterized by the fusion of the two valves of the aortic valve during fetal development, resulting in the aortic valve, which originally had three valves, becoming two valves. The frequency of this condition, especially in certain families, makes us wonder: How far-reaching is the inheritance of this gene?
BAV is often inherited and in many cases does not cause obvious symptoms, but its potential complications over time cannot be ignored.
Clinical symptoms and complications
Many people with BAV do not experience significant health problems in the early stages. However, they may find that they cannot perform as well as normal people during high-intensity cardiorespiratory activities and may tire more easily. As we age, if the valve becomes calcified, it may lead to aortic stenosis, which can lead to other complications.
PathophysiologyA calcified aortic valve may lead to varying degrees of aortic stenosis and ultimately require heart surgery to repair or replace the damaged valve.
Bavoy fusion in BAV usually occurs between the right and left coronary valves (approximately 80%), and this fusion pattern is considered to have a higher risk of complications. In addition to calcification, BAV may also cause aortic dilatation and even aneurysm formation. The study showed that the outer matrix of the aorta in BAV patients is significantly different from that in patients with normal tricuspid valves, which may be one of the potential causes of heart disease.
Hemodynamic effects
The hemodynamic behavior of BAV patients differs from that of normal tricuspid heart valves, which results in maldistribution of blood flow. When the left ventricle of the heart contracts, reverse flow may cause valvular insufficiency, which not only increases stress on the heart but may also cause changes in the heart's structure.
Diagnosis and Imaging
For patients suspected of having BAV, a heart murmur is one of the most common initial diagnostic markers. A more detailed examination can be performed at this time with echocardiography or four-dimensional magnetic resonance imaging (4D MRI). In particular, 4D MRI technology can clearly depict the blood flow characteristics of the entire circulatory system.
Treatment and follow-up monitoring
For complications arising from BAV, surgical intervention is often necessary. This may include aortic valve replacement or balloon angioplasty, and the decision to do these surgeries will depend on the patient's specific circumstances and monitoring results. According to academic research, the average life expectancy of patients with good valve function or mild valvular dysfunction is no different from that of normal people.
Epidemiological characteristics
The incidence of bicuspid aortic valve in the general population is 1-2%. The genetic nature of the disease causes it to cluster in families and to occur at a relatively high incidence in certain ethnic groups. Recent studies have indicated that BAV may be related to NOTCH1 gene mutations and show characteristics of autosomal dominant inheritance but incomplete penetrance.
As our understanding of the bicuspid aortic valve deepens, it becomes clear that this heart disease is no longer a single individual case, but is closely related to the interaction of genetics, environment and lifestyle. Will future research lead to more links that unravel this ancient genetic mystery?
