Genome Test – Hypertrophic Cardiomyopathy by Michael Burnett

Hypertrophic Cardiomyopathy Definition

Hypertrophic Cardiomyopathy is a genetic heart disease that affects one in every 500 people. HCM is a disease in which the heart muscle (myocardium) becomes abnormally thick (hypertrophied). The thickened heart muscle can make it harder for the heart to pump blood.

Genetics: The Specifics

Approximately nine genes that can express genetic variations that impact the trait. An insertion/deletion polymorphism in the gene encoding for angiotensin converting enzyme (ACE) alters the clinical phenotype of the disease. The D/D (deletion/deletion) genotype of ACE is associated with more marked hypertrophy of the left ventricle and may be associated with higher risk of adverse outcomes. Mutations associated with HCM development have been found in genes that encode components of the thick filament proteins: myosin-7 and myosin-binding protein C and in genes that encode the components of the thin filament proteins: cardiac troponin T, cardiac troponin C, cardiac troponin I, and α-tropomyosin (Capek). Myosin 7 does occur in genes expressed in the head region. The amino acids created by the mutation is responsible for HCM development (“Familial Hypertrophic Cardiomyopathy.” ).

Reasoning for Testing and Testing Information

HCM is the leading cause of sudden cardiac death in young athletes. Getting tested might be beneficial at a young age, especially if physically active and/or runs genetically in the family. The trait can be tested with an echocardiogram ($2000+), a heart test with 80% accuracy. This would be followed by an electrocardiogram ($50) to test for heart abnormalities. Cardiac magnetic resonance imaging is a test considered the gold standard, determining the properties of the left ventricular wall for when echocardiogram proves inconclusive (“Echocardiograms for Heart Valve Disease.”). If the trait is carried, one might already notice shortness of breath, chest pains, and decrease in blood flow, as these are symptoms of the trait.

Reasoning for not Testing

An echocardiogram is harmless to the individual, as it does not contain radiation exposure to take pictures of the heart. The only reasons one might not take the tests is cost ($2000+) or an accuracy of 80%. The low accuracy derives from uncertainty of variations affecting the HCM condition, which could be a potential reason for not taking the genetic test. Taking the test could lead to other tests such as transesophageal echocardiogram (TEE), where a tube is put down the throat with a camera to take pictures. This could lead to throat problems and other complications.

Testing Positive Can Lead to Negative Outcomes

Discovering the trait is carried could result in both detrimental emotional and financial outcomes. Through an athlete’s perspective, discovering the echocardiogram results are positive could tremendously affect emotions in a negative aspect, as he or she may need to quit physically active sports for the rest of their life. However, those not as physically active can live a normal life expectancy as long as they do not participate in any strenuous activity. Financially, one could expect to buy medications for the chest pains, shortness of breath, and palpitations. There are also options of open heart operations to reduce symptoms, but cost levels can be extreme. The most extreme option includes a full heart transplant, which cost $1.4 million dollars, and has a 94% chance of living no longer than seven more years.

Family Genetic Risk

The genetic risk for HCM is passed from one generation to the next by way of dominant-acting mutations in genes governing the structure of the heart muscle. That means that first-degree relatives (parents, siblings, and children) of an affected person have a 50% chance of having inherited the same mutation (“Hypertrophic Cardiomyopathy: Who Has an Inherited Risk?” ). If tested negative, that may not mean the trait is not present. A cardiac magnetic resonance imaging may be needed to support initial test results. When tested positive one should plan for emotional and financial responses that were previously listed, as well as eliminating strenuous athletic activity for the rest of their life. Telling your doctor exact specifics about the carried trait and symptoms might be necessary in terms of medication prescriptions and further treatment options. No further screening of the heart area are needed when tested positive. In terms of environmental factors, no strenuous heat or activity should be present.

Works Cited

Capek, Pavel, et al. “Hypertrophic Cardiomyopathy: from Mutation to Functional Analysis of Defective Protein.” Croatian Medical Journal, Croatian Medical Schools, June 2011, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3118724/.

“Echocardiograms for Heart Valve Disease.” Choosing Wisely – Promoting Conversations between Providers and Patients, http://www.choosingwisely.org/patient-resources/echocardiograms-for-heart-valve-disease/.

“Familial Hypertrophic Cardiomyopathy.” SNPedia, https://www.snpedia.com/index.php/Familial_hypertrophic_cardiomyopathy.

Harvard Health Publishing. “Hypertrophic Cardiomyopathy: Who Has an Inherited Risk?” Harvard Health, https://www.health.harvard.edu/heart-health/hypertrophic-cardiomyopathy-who-has-an-inherited-risk.

Michael Burnett – Tailgate cleanup

For our tailgate cleanup experience after the UGA – Missouri football game , we cleaned behind O-house near a river Sunday 11-1PM. Our role was to pick up as much trash as we could within that amount of time. Patrick and I teamed up, collecting as much as we could putting it in our trash bag. I found plenty of trash old and new, ranging from beer cans to styrofoam cups. We even found a whole tire and managed to pull it to the top of the hill. The group of us who were there continued to work, filling up five whole trash bags from the area.

I was very surprised to find out how much trash there was even after the paid cleanup crew swept the area. This made me realize the necessity of the cleanup, to back up the paid cleaners who did not pick up everything in the hardest spots to clean up.

The experience reminded me to be more careful about how I treat the environment. Even the smallest piece of trash has potential to affect ecosystems. I gained skills of getting my hands a little dirty to do a good service to the environment. however, I lack the skills to pick up every single bit of trash in the area. Due to objects being hidden or buried, I feel there is still more to be cleaned.

As a result of my experience, I will do everything in my power to keep UGA post-tailgate clean as possible. Any piece of trash I see in my line of sight will be picked up.

Climate Simulation – Michael Burnett

This past Tuesday we played the role of China in our Climate role playing negotiations. When we played our role as a table, I felt like we were in high demand for negotiations. As a country, we had the highest carbon dioxide emissions compared to all the other countries. as we went on, we were more willing to negotiation, with more lenient feelings, since we knew we had the highest CO2 emissions. While we decided to cut emissions earlier, other countries also became more lenient and cooperated so we could indeed cut them. In the end I think emissions can be cut with a full cooperation efforts between the countries. One of our biggest barriers was the high demand for negotiation with us, and the developing countries asking for so much. U.S. needs to make a greater effort to negotiate with other countries and turn more financial focus towards CO2 emissions.

Michael Burnett Watershed Reflection

In this picture, I see a drain labeled “No dumping! Drains to river”. I have never seen a drain like this before, which struck me. This makes me think of how rain combined with pollution on the streets can easily drain to the river with this feature. When I look at this picture, I feel a need to to better, find better ways to protect our environment. I think this picture is about our society thinking of simple solutions, not complex which actually have better chance of saving our environment.

Michael Burnett

In high school I took Biology, Chemistry, AP Physics 1, and AP Physics C. I enjoyed physics the most because my teacher was really down to earth and connected with his students. It was also math based, my best subject. Hopefully through this course I will have a better understanding of the living and how to preserve life moving forward in life. I am beyond excited for my first tailgate as a college student, but the tailgating project for post-game cleaning really brings interest. Growing up I always enjoyed going to Georgia games with my dad or friends, and these experiences only makes me more curious on how the cleanup process works and how we, as students, can do better to preserve our environment. Through this project, I feel like I will learn that more people are curious about this similar problem, and we can all come together to research and prepare for future tailgates. Through this Biology course, I hope to learn more about genetics and how they shape who we are and what we look like.