EmilysDad
07-10-2007, 12:18 PM
We had a very busy day in Boston yesterday. Our daughter, Emily, aged 14, was diagnosed in May with HCM based on a good catch from a routine physical that picked up a heart murmur. Thanks to the HCMA, we saw Dr. Maron in Boston at the end of May, and I met many of you in NJ at the meeting in June.
Emily had her MRI done and it confirmed that her hypertrophic heart is not typical of sarcomere HCM, indicating an unusual underlying cause. The enlargement is mostly a large knob-like protuberance. Typically the enlargement is even and includes the entire septum. Her tissues do absorb the contrast dye that was injected (gadolinium) at a high rate. Gadolinium uptake is associated with scarring in patients who have congestive heart failure, but in her case the reason for the contrast uptake is not understood. Dr. Marty Maron went over to the cardiac MRI lab at Beth Israel and watched the pictures come in for two hours, and then went over the results with us. He tried not to sound excited but he was clearly intrigued by Emily's unusual heart morphology.
After that we went to NEMC and met Dr. Garganta, a pediatric metabolic geneticist. She is seeking a link that explains all of Emily's symptoms, which include her unusual HCM, her optic nerve neuropathy, and a very subtle general muscular weakness throughout her body.
Then we met Dr. Link, the electrophysiologist on the team. He had a second electrocardiogram done that suggested that the electrical conduction abnormality (Wolf Parkinson White) detected in May is very subtle and although present is not as strong an indicator of potential heart attack as we feared. That was the only good news we got. Finally Dr. Link and Dr. Maron came in to summarize the situation.
The facts support a metabolic cause of the HCM (hypertrophic cardiomyopathy) as opposed to the mutation in the gene that controls myosin, which is the cause of most HCM. Consequently Emily had more blood drawn by Dr. Garganta's lab and a detailed battery of tests will be done to see if there are abnormalities in her glycogen and fatty acid metabolism. In the meantime, they do not think her heart attack risk factors are high enough to warrant the risks associated with an implantable cardioverter defibibrillator (ICD).
Dr. Maron is sending her MRI pictures to other specialists (his father?) to see if anybody has seen a heart like Emily's. The metabolic geneticist holds out some slim hope that some of the metabolic anomalies are treatable. We feel that it is likely that we will never find out the cause of her disease, and just have to treat the symptoms. The genetic tests we had done for LAMP2 and PRKAG2 geners were negative. There are only 29,998 other known human genes, so this pathway is likely to be fruitless.
The current course of action is to maintain her beta blockers and an ACE inhibitor while the testing proceeds. The ICD is on hold because her risks seem pretty low. ICD's in growing children have a higher complication rate than adults, mostly leads that pull out, so giving her a few years to grow seems more conservative as long as her risk of sudden death is low. In the meantime we are shopping for an AED.
So we appreciate all the attention we got from some really smart folks who obviously passionately care about what they do. However, we still have no idea of what the future holds for Emily. I'll update when the blood and urine tests come back.
Emily had her MRI done and it confirmed that her hypertrophic heart is not typical of sarcomere HCM, indicating an unusual underlying cause. The enlargement is mostly a large knob-like protuberance. Typically the enlargement is even and includes the entire septum. Her tissues do absorb the contrast dye that was injected (gadolinium) at a high rate. Gadolinium uptake is associated with scarring in patients who have congestive heart failure, but in her case the reason for the contrast uptake is not understood. Dr. Marty Maron went over to the cardiac MRI lab at Beth Israel and watched the pictures come in for two hours, and then went over the results with us. He tried not to sound excited but he was clearly intrigued by Emily's unusual heart morphology.
After that we went to NEMC and met Dr. Garganta, a pediatric metabolic geneticist. She is seeking a link that explains all of Emily's symptoms, which include her unusual HCM, her optic nerve neuropathy, and a very subtle general muscular weakness throughout her body.
Then we met Dr. Link, the electrophysiologist on the team. He had a second electrocardiogram done that suggested that the electrical conduction abnormality (Wolf Parkinson White) detected in May is very subtle and although present is not as strong an indicator of potential heart attack as we feared. That was the only good news we got. Finally Dr. Link and Dr. Maron came in to summarize the situation.
The facts support a metabolic cause of the HCM (hypertrophic cardiomyopathy) as opposed to the mutation in the gene that controls myosin, which is the cause of most HCM. Consequently Emily had more blood drawn by Dr. Garganta's lab and a detailed battery of tests will be done to see if there are abnormalities in her glycogen and fatty acid metabolism. In the meantime, they do not think her heart attack risk factors are high enough to warrant the risks associated with an implantable cardioverter defibibrillator (ICD).
Dr. Maron is sending her MRI pictures to other specialists (his father?) to see if anybody has seen a heart like Emily's. The metabolic geneticist holds out some slim hope that some of the metabolic anomalies are treatable. We feel that it is likely that we will never find out the cause of her disease, and just have to treat the symptoms. The genetic tests we had done for LAMP2 and PRKAG2 geners were negative. There are only 29,998 other known human genes, so this pathway is likely to be fruitless.
The current course of action is to maintain her beta blockers and an ACE inhibitor while the testing proceeds. The ICD is on hold because her risks seem pretty low. ICD's in growing children have a higher complication rate than adults, mostly leads that pull out, so giving her a few years to grow seems more conservative as long as her risk of sudden death is low. In the meantime we are shopping for an AED.
So we appreciate all the attention we got from some really smart folks who obviously passionately care about what they do. However, we still have no idea of what the future holds for Emily. I'll update when the blood and urine tests come back.