nanonug
Senior Member
- Messages
- 1,709
- Location
- Virginia, USA
There is this thing called Tetralogy of Fallot that has been mentioned a couple of times here on PR. Now, to my knowledge (but I'll check with mom!), I've never exhibited the typical after-birth signs normally associated with the condition. However, since forever, I've had a terrible time with physical activity resulting in tachycardia, shortness of breath and terrible cognitive decline, not to mention syncope or near syncope occasionally. How did I end up looking at this condition? Well, while browsing my genome on ENLIS for genetic variations and finding out I am heterozygous for a rare (0.01%) and pathogenic autosomal dominant mutation on the GDF1 gene (rs121434424) leading to loss/impairment of function. This mutation is associated with, you guessed it, Tetralogy of Fallot!
A few years back I did an echocardiogram, not with a cardiologist, but with my family doctor, and the result was interpreted somewhere else. A few days later, I was told by my family doctor that "everything" is fine. But now I need to actually get a copy of the echocardiogram to see if there was anything funky going on. And then possibly schedule an appointment with a cardiologist.
A few years back I did an echocardiogram, not with a cardiologist, but with my family doctor, and the result was interpreted somewhere else. A few days later, I was told by my family doctor that "everything" is fine. But now I need to actually get a copy of the echocardiogram to see if there was anything funky going on. And then possibly schedule an appointment with a cardiologist.