Diagnosis

I recently discovered that I was born with a congenital heart defect known as bicuspid aortic valve disease (BAVD). It’s not a disease, per se, so much as a defect. Most people (roughly 99% of them) are born with a tricuspid aortic valve. I am the lucky 1% born with a bicuspid valve. (I am the 1%!)

As a bonus, being born with this genetic mutation also means the lower part of my aorta, the part that connects to the aortic valve and helps channel the flow of oxygenated blood into the arteries, has less fibrillin-1 – a protein that helps to maintain the structural integrity of the aortic wall. This means that my aorta is prone to “stretching out” and even the normal stress of blood flow coming out of the heart and being channelled to the rest of the body is enough to cause it to start ballooning outward.

The nominal course of BAVD usually entails the aortic valve calcifying and stiffening later in life (60s – 70s), ending in valve replacement surgery. Some people will also need the root of their aortas replaced at this time, some may not. My problem is that my aorta is jumping the gun; it’s already stretched out to the point where it’s considered an aortic aneurysm. I like to imagine it as a hipster, dilating before it’s cool to do so.

I’ve had an echocardiogram and a CT scan and met with two cardiologists. Everyone agreed that I should consult a cardiothorasic surgeon on how to proceed. So on April 19th, I met with the Director of Aortic Surgery at Columbia University Medical Center, part of New York-Presbyterian Hospital, and was informed that I should consider scheduling the surgery sooner rather than later.

Sooner translated to July 18, 2012.