Uncommon condition has many causes

February 15, 2011 By

DEAR DR. GOTT: My 26-year-old son has been diagnosed with homocysteinemia. It seems that physicians don’t know a great deal about this. I know it is a genetic disease that has something to do with amino acids in his blood. The neurologist who confirmed the disease has told us that he has Marfan-like features (my son is 6 feet 7 inches, 160 pounds and has long limbs). He has had an irregular heart rate for many years that fluctuates from 40 into the hundreds. (His cardiologist said a lot of people have this.) His level was 16 at his last blood test. My research states that a normal level is between 3 and 7, but his family doctor (who admits not knowing much about the disease) said 12 could be normal. The neurologist said his count was high.

What is this disease and what complications can it cause? [Read more...]

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Family should be tested for Marfan syndrome

October 24, 2010 By

DEAR DR. GOTT: Recently, all three of my children went to a chiropractor, since all have back problems. The doctor suggested having my middle child seen by a heart specialist because he has flat feet, a curved spine, an indented chest and protruding shoulder bones. It was a good call because the cardiologist found that he has an enlarged aortic valve (following an EKG and an ultrasound). He is now recommending that my son have an MRI of his heart and see a geneticist to determine if he has Marfan syndrome. My son is 14 years old and has asthma, but otherwise, we just thought he was skinny. What are your suggestions about any information the geneticist needs?
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