- CASE FILE
A defect on my MYH7 gene caused Left Ventricular Noncompaction but doesn’t explain the Muscular Dystrophy like muscle degeneration or anemia
ABOUT THIS CASE FILE
I am done being told that I am a genetic anomaly. Doctors have told me MYH7 caused my left ventricular noncompaction cardiomyopathy, but the muscular degeneration that goes along with it does not fit my symptoms or continued pain that I have. Muscle biopsies have not revealed a specific type of muscular dystrophy, either. Now I am anemic, refractory to iron, and in need of blood transfusions. I also suffer from progressive muscle loss and weakness, shortness of breath consistent with Stage 3 heart failure, and an abnormal heart rhythm with an AICD implanted. Could there be more genetic or autoimmune issues at work here? All I want is some quality of life and energy. I am a very compliant patient.