Hello I have a son who was born with a bicuspid aortic valve with moderate aortic stenosis which he got from his father. I have 3 girls who did not inherit this and wanted to know is it more common in males? Also is there anything that can be done before birth to improve the outcome?
You are correct: bicuspid aortic valve (BAV) occurs in males, with a ratio of about 3:1, based on surgical and echocardiographic studies. BAV also occurs in about 0.5 to 2% of the general population, making it the most commonly seen congenital cardiac defect. For our other readers, the aortic valve typically is trileaflet, or has 3 cusps. In BAV, there can be 3 cusps with two fully or partially stuck together, or there can be only 2 cusps. BAV can be associated with aortic valve stenosis, insufficiency, and prolapse, as well as aortic root dilation.
In regards to prenatal intervention, I’m not sure if you are referring to the actual bicuspid valve or to the stenosis. The heart is fully formed by 7 weeks of gestation, which is quite early on, so the determination of the BAV is fairly set. Aortic valve stenosis intervention, which can accompany BAV, is a different story. As you may be aware, there are some centers that are performing in utero transcatheter balloon valvuloplasty procedures, in which a catheter is placed through the uterus, through the fetal chest wall, and into the heart across the valve. A balloon on the end of the catheter is then inflated to open the balloon. However, this is a VERY uncommon procedure. Mild or moderate stenosis would not qualify for or need this procedure—babies tolerate this just fine. Some forms of severe or critical stenosis would, although there is quite a high fetal mortality associated with this procedure, so the risks have to be weighed appropriately. In many fetuses, the outcome may be better to wait for post-natal transcatheter intervention.
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