Wednesday, December 3, 2008
Emily's Underlying Condition
Emily was diagnosed in June 2007 with Hypertrophic Cardiomyopathy. You can see from this MRI, looking toward her head with her spine at the bottom, that the walls of her left ventricle are much thicker than the right side, and that there is a nose-like protuberance from the septum into the ventricle. There's a link on the side to the HCMA site, where you can learn a lot more about HCM.
HCM is normally manageable but the underlying cause of Emily's cardiomyopathy is very unusual (she's one of a kind). The cause is related to a genetic abnormality of the mitochondria, not the heart muscle per se. This means that the clinical course of her disease was unknown. In the last year and a half the thickened muscle has thinned, the volume has increased, and the ability of the muscle to relax has diminished. This is called dilated cardiomyopathy and it is not treatable.