Author: Jack Caiaccio

Familial Hypertrophic Cardiomyopathy

Jack Caiaccio

Familial Hypertrophic Cardiomyopathy is a rare heart condition where the heart muscle thickens, blocking blood flow to the body. The muscle thickening typically occurs in an area of the heart known as the interventricular spectrum, which separates the two lower chambers of the heart. In some patients this muscle thickening can lead to abnormally sounding heart beats, which can obviously be detected. In other cases, however, there may be no visible or audible symptoms, just slowed blood flow, which can be very serious. Regardless, the thickening of the muscles in the heart obstructs the flow of blood into and out of the heart, which can be fatal. The prognosis for individuals affected with FHC is relatively benign- those affected may live for years without any symptoms or issues. A study by Thoraxcentre in The Netherlands has shown that, “HCM has a relatively benign prognosis (1% cardiac annual mortality) that is 2-4 times less than previously thought.” According to the US National Library of Medicine, Familial hypertrophic cardiomyopathy affects an estimated 1 in 500 people worldwide. It is the most common genetic heart disease in the United States.” It is a gene that is autosomal dominant, so both parents must be at least carriers for the offspring to have a chance of having Familial Hypertrophic Cardiomyopathy. Autosomal means that the FHC gene is located on a non-sex chromosome, so both male and female offspring have an equal likelihood of receiving a copy. Dominant means exactly what is seems- it only takes one copy of the gene mutation to cause the disease. Therefore, when an offspring receives genes from its parents, it only takes one mutation in the MYH7 gene, or any other gene linked to FHC, to cause Familial Hypertrophic Cardiomyopathy. There are close to ten genes with variations that could leave the patient affected by FHC. The most prevalent mutation is in the MYH7 gene, which is associated with about 35% of FHC cases.

In order to identify Familial Hypertrophic Cardiomyopathy, it is imperative to get tested. Testing can be especially important in athletes and highly active people, because they are the ones that are physically exerting themselves the most, and their heart rates are, on average, higher. When an athlete is playing a sport, such as basketball, their heart rate is high, and their heart is having to work harder in order to get oxygen-rich blood to the body. If muscle is thickened, it is more difficult for the heart to distribute blood to the body. At higher heart rates, the heart can become overworked and blood may cease flowing and clot, which can be fatal. The most effective way to test for FHC is through an Echocardiogram, which is an imaging test where a doctor can see if the heart muscle is abnormally thick. Genetic Testing is not the most effective way to test, as results may not provide any definitive answer. One reason for this, according to the Mayo Clinic, is that, “Only about 50 percent of families with HCM have a currently detectable mutation, and some insurance companies may not cover genetic testing.” I would recommend some form of monitor testing, something that allows doctors to see if the heart muscles are enlarged or not. It can cost up to two thousand dollars for an echocardiogram, and no options that test the heart are cheap. Without insurance, you may still need to pay the entire cost by yourself. With insurance that does in fact cover an Echocardiogram, there will still be a co-pay of up to one thousand dollars. Even genetic testing would be expensive to test for all the gene mutations associated with FHC.

Before getting tested for Familial Hypertrophic Cardiomyopathy, it is important to know as much as possible about possible issues or limitations with the test. For example, there are about ten genes with variations, and some only account for a small increase in risk. Even with that mutation, it is still very possible that the patient will not have FHC. Also, there could be an undetected variation that the patient has that is not known to cause FHC, but it could because it just has not been associated to it yet.

There are many other possible repercussions to being tested for potential FHC. One is the possibility of your genetic information being sold to outside companies. Your genetic privacy is very important, and it could be a big problem if your information is sold. The company 23andMe is an online platform where you mail in a sample and get your results within a couple of weeks. According to the website, “Everyone deserves a secure, private place to explore and understand their genetics. At 23andMe, we put you in control of deciding what information you want to learn and what information you want to share.” There are also some potential downsides of being genetically tested for Familial Hypertrophic Cardiomyopathy, mainly because only about half of the people who have FHC in their genetic makeup have a detectable gene that will show they have it. In addition, it is very difficult to live knowing you have Familial Hypertrophic Cardiomyopathy, as you must exercise extreme caution whenever doing any physical activity. Treatment can help, and knowing about the disease could be lifesaving, especially for college athletes. College athletes, in particular, should know if they have FHC, because it could be lifesaving. It is important for all athletes to be tested, but I believe it should be required for collegiate athletes in the United States.

When being tested for Familial Hypertrophic Cardiomyopathy, it is important to be educated and ask the right questions to the experts. It depends on the gene in question, but since FHC is autosomal dominant, if a parent has tested positive, then there is a good chance a child will also test positive, about fifty percent. According to the National Library of Medicine, “This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.” It also states that, “In most cases, an affected person has one parent with the condition.” If they test positive, they should consult with the doctor and ask about possible treatments to help with the condition and about what they should do regarding physical activity. If they test negative, they should still be careful about physical activity or maybe even get a second test if possible, because of how much of a toss-up genetic testing is for FHC. I would tell my doctor anything I know, because they probably know more than I do and could help me out in my lifestyle changes. If they test positive, I would recommend screenings like the echocardiogram, because it can be far more definitive than the genetic testing can be, and the doctor can tell you the level of severity at the given time. A positive test should result in significant changes to the affected person’s life. They should be very careful when doing any physical activity, and they should limit their exertion.

In conclusion, Familial Hypertrophic Cardiomyopathy is a very serious heart condition that is genetic. People who have it in their genetic history should definitely get tested. I would recommend first getting an echocardiogram, to test the heart valves and muscles associated with FHC. If they are in fact swollen or enlarged, then I would recommend the genetic testing for FHC. Even though the results are inconclusive, you may be able to conclude more after echocardiogram results have come back. For example, if you know that heart muscles have thickened, you could pair that information with your genetic testing in order to develop the most conclusive results possible. It is very important to detect it, as it could be lifesaving to know that you have it, because treatments and lifestyle changes can have big effects. Before being tested for FHC, it is imperative to know as much as you can about the tests and ask the right questions.

Sources

Familial hypertrophic cardiomyopathy – Genetics Home Reference – NIH. (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy#inheritance.

Hypertrophic cardiomyopathy. (2018, April 14). Retrieved from https://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/diagnosis-treatment/drc-20350204.

23andMe. (n.d.). Privacy and Data Protection. Retrieved from https://www.23andme.com/privacy/?vip=true.

Prognosis of Hypertrophic Cardiomyopathy. Thoraxcentre, University Hospital. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/10163618

Community Outreach- Tailgate Cleanup

Jack Caiaccio

For my community outreach project, I decided to focus on cleaning up tailgate trash after the Missouri football game. Our group cleaned up the areas behind O-House, and down near Tanyard Creek. It is very evident that tailgating has a major effect on the city of Athens, but it goes too far when people leave their trash, especially cans, on the ground. The University cleaning crews do a good job of getting garbage picked up at the main tailgate areas, but they missed some of the areas that are not as heavily populated on game days.

During our outreach project, we walked around with garbage bags and picked up trash, mostly empty cans and bottles. We picked up about 3 trash bags worth of garbage as a group, and some members even got an old tire and ironing board from the river bank. During the cleanup, I realized how important it is to keep our beautiful campus clean. The UGA officials do such a great job and we sometimes take that for granted, but when you get behind the scenes, you realize just how much tailgating affects the area.

Keeping our campus clean should be a priority for every single UGA student. It was rewarding to help clean up the campus that so many of us call home. I believe that if every remains environmentally conscious during game day, we can avoid any littering during games and truly have one of the best campuses in the world.

Climate Simulation – Jack Caiaccio

When I played my role as a part of the European Union, I felt a little like a parent to the rest of the nations and groups. It was difficult to get other groups to cooperate to either give money or vow to do something to better the World’s climate. I also felt like our group gave the most money, and also got the least in return, because the EU already has decently low emissions. Our issues came from the lack of other well off nations to contribute to help change the course that our global temperature is on. I felt like the United States and China should have made a more conscious effort to assist either by lowering their CO2 emissions, by giving money, or both.

At first, I thought that our group and the rest of the groups did more than enough to get the global temperature to where we wanted it to be by 2100. We placed a big emphasis on deforestation and reforestation, while it was actually the peak year and year starting to reduce emissions that made the biggest difference. After I saw that we did not do enough in round one, I knew we needed to take much larger measures to get the global temperature to where we wanted it to be.

After round one, our group decided to give even more money to the groups who needed it, in exchange for us being able to monitor the use of the money. We did not really change anything else, however, because our peak year and declination of CO2 were already at a good level, and our deforestation and reforestation were as well.

The change was prompted by all of the groups seeing that what we did in round one did not do enough to get to the +2 degrees C, which is where we were trying to get as the World for 2100.

I definitely think that emissions can be cut. However, I do not think that developing nations can cut their emissions as much as the developed nations would like them to, but they can do whatever they can to make the world as good off as possible. As long as all nations make it a conscious effort to reduce emissions as much as is possible, emissions can be cut.

The biggest barrier to implementing the proposals is the fact that it costs a lot of money to reduce carbon emissions. Developing nations need a lot of assistance as it is, and reducing carbon emissions would be one of the last things on their mind to spend billions of dollars on. They have more pressing issues within their borders that the money could be used toward.

We can start by changing our ways, then trying to scale upward. A good start would be to walk everywhere you can, and try to carpool or take public transportation whenever possible. Also, we can spread awareness to young people, as they are the ones who will be having to live with these effects. In addition, we could lobby to politicians to try and get a bill passed that reduces carbon emissions in the United States. It is important to educate the younger generation, so they will grow up with habits that are better for our global environment.

Jack Caiaccio Watershed Reflection

  1. In this picture, I see an area where the river disappears under ground. It goes under campus, specifically under the ECV area.
  2. The one thing I noticed in this photo was how dry the area was, because at the time this photo was taken, it had been a while since the last rain. In addition, after I took the photo, I noticed so many more similar things around campus, like right next to Bolton Dining Commons.
  3. This picture makes me realize just how much influence civilization has in the Athens area, specifically on the UGA campus. There are multiple instances where things are built over creeks and rivers, most notably Sanford Stadium which is built over a creek.
  4. When I look at this picture, I feel reassured that mankind is the strongest species on Earth and does things to the environment that are in their best interest rather beneficial to the environment.
  5. I think this picture is about the issues of humanity exerting their dominance on the Earth, which can be very harmful, because it is very important to conserve the planet we live so it can be enjoyed for multiple generations.

Jack Caiaccio Introduction

2. I took science all four years in High School. I took Biology, Chemistry, and Physics all at the accelerated/gifted level. Senior year, I took Astronomy in the Dual Enrollment program at Georgia State University. The class I most enjoyed was physics, because I am a math-oriented person and I love to solve physics problems. My second favorite class was biology, because of all the hands-on activities we were able to accomplish.

3. I want to gain an understanding for my body and how it works. I want to understand how what I put into my body affects it, and I also want to learn about what we can do to help conserve our environment. I also want to come out of this class with more people that I am friendly with, who I can say hi to around campus.

4. The projects that interest me most are the tailgating clean up and the visit to Clarke Central High. I am interested in the tailgating clean up because I have been coming to Georgia Football games my whole life and I never realized or would have imagined that people would trash our beautiful campus like they do. I am interested in the CCHS visit because I always found it very helpful and fun when college students and older people visited to help me with academics, and I want to be able to help students in that same way.

5. I want to be able to learn about more things that I can do to conserve the Earth, and how we can make this planet the best it can be for a long time. I also hope to learn about proper ways to give back to the community because I have been given so much in my life already.

6. In general in this course I want to learn about more public outreach opportunities around me, as well as learn about human health and what is beneficial to the body and what could potentially be harmful.