Your genes could hold the answer

HIV

HIV is a virus that attacks your immune system. More specifically it attacks your body’s white blood cells, which are responsible for fighting off diseases. It is a sexually transmitted disease and can also common contracted through the sharing of dirty needles and from mothers during pregnancy (HIV/AIDS). Nowadays many people who have HIV can lead long lives with extensive treatment and management. However, it can still be a terrifying disease with no cure.

What is Delta 32?

Rs333 or CCR5 Delta32 is in the CCR5 gene which helps with many immune-related functions. More specifically it is found in the cell membrane and allows chemokines into the cell. The rs333 allele is a 32-nucleotide deletion located in chromosome 3. This alleles’ main effect is increased resistance to HIV. The allele stops the virus from being able to enter the cell. People who have one copy of this allele are somewhat resistant to the virus and the virus progresses slower. People with 2 copies of the allele are almost completely resistant to the virus. However, having 2 copies of the allele is quite rare. Only about 1% of Caucasians have this variation. It is thought this allele may have evolved in Europeans because it may have also caused resistance to the plague or smallpox. On the other hand, this allele can increase the risk of aneurysms (“rs333”). 

Are there other genes that can cause resistance to HIV? 

            Yes, although Delta 32 is the most famous. Some genes like HLA-B57 and HLA-B27 suppress the virus’s ability to replicate. It is estimated that 3% of the population may have these alleles. Another gene known as DRB1 and DQB1 has been known to stop HIV from progressing to AIDS (PALFIR Genetics). Despite being the most well known and most researched allele linked to fighting HIV there are others that can also help your body fight the virus. Some tests, which are discussed later, that test for the Delta 32 allele will also test for these variations.

How can Delta 32 be used as a treatment?

New treatment for HIV has been built on how this allele functions. By taking medicine that binds with the co-receptor on the cell. The HIV virus is unable to bind with the cell blocking it from entering the cell (PALFIR Genetics). Some scientists have also tried to give bone marrow transplants to patients with HIV from people who are homozygous for the Delta 32 allele (Rothenberger). At this time there seem to be mixed results on the effectiveness of these transplants. Current research indicates that the use of bone marrow transplants used in tandem with other forms of treatment leads to a greater chance of fighting HIV and bringing levels of the disease in the system to below testable levels (Rothenberger).  

Another case that has made international news recently is the CRISPER baby scandal. A Chinese doctor named He Jiankui edited the genes of two babies to give them the Delta 32 allele. During his testing, he failed to adhere to multiple safety protocols and has since been fired and is facing criminal investigation (Cohen). Some people have also expressed concern that without fully understanding the effects of this allele we should not be thrusting it onto babies unable to comply. 

Should you get tested for Delta 32?

23-and-me tests for the allele but there are other companies like PALFIR Genetics that will also test for just this allele. The delta-32 specific test cost about $200 (PALFIR Genetics). At this point, there does not seem to be a good reason to get tested for this allele, especially for this cost. Since this allele is found mainly in Europeans it may be a waste of money for someone who has no European ancestors (Solloch).

The test may bring someone peace of mind to know they have a resistance to this virus if they have been exposed to it. However, if someone knows they are going to be exposed to the HIV virus there are other medications such as PrEP that can also lower your chances of getting the virus. PrEP is also covered by many insurance companies and can even be purchased for a discounted price if you do not have medical insurance (“Pre-Exposure Prophylaxis (PrEP)”). So instead of spending $200 to find out if you are one of the 1% who is resistant to HIV you ask your doctor about getting a medicine like PrEp instead and save a lot of money and also guarantee the outcome of lower your risk to getting the virus. 

If on the other hand, you want to know if you have the allele so you can contribute to research surrounding it such as the bone marrow test or a longitudinal study about the lives of people with the allele then obviously getting tested would be the first step. Another potential problem with getting tested for this allele may be a false sense of security. Although the allele does confer almost immunity to the HIV disease and likely the plague and smallpox this does not mean people should still not be careful. At the end of the day getting tested for a genetic mutation is up to each individual and as fascinating as it sounds that your genes may make you resistant to certain potentially deadly viruses getting tested for these alleles may be more of a hassle than they are worth. I would recommend looking into some gene testing for mutations that could be potentially harmful not one that may be beneficial.  

Works Cited

Cohen, Jon, et al. “The Untold Story of the ‘Circle of Trust’ behind the World’s First Gene-Edited Babies.” Science, 2 Aug. 2019, www.sciencemag.org/news/2019/08/untold-story-circle-trust-behind-world-s-first-gene-edited-babies.

“HIV/AIDS | HIV | HIV Symptoms | AIDS.” MedlinePlus, U.S. National Library of Medicine, 27 Nov. 2019, medlineplus.gov/hivaids.html#cat_77.

PALFIR Genetics. “Get Tested Now.” Are You Resistant To HIV?, 2018, www.delta-32.com/ccr5-delta32.html.

“Pre-Exposure Prophylaxis (PrEP).” Centers for Disease Control and Prevention, Centers for Disease Control and Prevention, 8 Nov. 2019, www.cdc.gov/hiv/risk/prep/index.html.

Rothenberger, Meghan, et al. “Transplantation of CCR5∆32 Homozygous Umbilical Cord Blood in a Child With Acute Lymphoblastic Leukemia and Perinatally Acquired HIV Infection.” Open Forum Infectious Diseases, Oxford University Press, 22 May 2018, www.ncbi.nlm.nih.gov/pmc/articles/PMC5965100/.

“rs333.” SNPedia, 3 July 2019, www.snpedia.com/index.php/Rs333.

Solloch, Ute V., et al. “Frequencies of Gene Variant CCR5-Δ32 in 87 Countries Based on next-Generation Sequencing of 1.3 Million Individuals Sampled from 3 National DKMS Donor Centers.” Human Immunology, Elsevier, 5 Oct. 2017, www.sciencedirect.com/science/article/pii/S0198885917305104.

Walker, Nick. “Umbilical Cord Blood Bank to Fight HIV and AIDS.” Umbilical Cord Blood | Parents’ Guide to Cord Blood, 2016, parentsguidecordblood.org/en/news/umbilical-cord-blood-bank-fight-hiv-and-aids.

What is Schizophrenia?

Schizophrenia is a mental disorder characterized by symptoms including hallucinations, delusions, thought disorders and movement disorders.  People with schizophrenia may also experience reduced positive emotions, and difficulty focusing. Scientists believe that schizophrenia can be both inherited and caused by the environment around an individual. Schizophrenia is typically begins between the ages of 16 and 30 and is more common in males than females. Approximately 0.4% of the population experience this genetic trait.

What Causes Schizophrenia?

Scientists believe that many different genes can contribute to the possibility of an individual developing schizophrenia. Some studies have put the number as high as 22,000 different genes contributing to the development of schizophrenia. A microdeletion in chromosome 22 called 22q11 has been identified as most commonly linked to schizophrenia. Because of the sheer number of different genes scientists suspect increase the risk of schizophrenia, I will focus on the 22q11 mutation. This mutation deletes between 30 and 40 genes in the middle of chromosome 22.

One of the genes that is typically deleted by this mutation is the COMT gene. This gene codes for an enzyme called catechol-O-methyltransferase which is found in the brain, liver, kidneys and blood. In the brain, the enzyme helps control certain hormones and is typically found in the prefrontal cortex. The prefrontal cortex is involved with personality, planning, behavior, abstract thinking, emotion and memory. The enzyme helps maintain sufficient levels of other neurotransmitters in the prefrontal cortex which affect the abilities above.

Another gene deleted by the mutation is the TBX1 gene. This gene is responsible for the formation of tissue and organs in embryonic development. The proteins created by this gene are specifically used for development of muscles and bones in the face and neck.

• When this gene is deleted by the 22q11 mutation is affects the production of the proteins. While this can cause visible changes and other medical conditions it is believed that the loss of this gene also affects behavior.

Genetic Testing for Schizophrenia

A person may want to get a genetic test because it will help them understand if they are at a higher risk for schizophrenia. Because of the number of genes thought to affect the probability of getting schizophrenia there are no tests that can accurately examine all the variables. The best option is to have a full genome sequencing because it will best be able to identify all the genes in question. However, this costs approximately $1325. A more cost effective option would be single gene sequencing. In single gene sequencing a person could examine the most common alleles causing schizophrenia such as COMT and TBX1.

Conclusiveness of Genetic Testing

There is evidence supporting a connection between these mutations and having schizophrenia. However, solely having these mutations does not mean a person will have schizophrenia. There are many different genes at play in this condition, but having these mutation will increase the chance.

Most people who have a family member who have schizophrenia will not have the condition. However, their chances are elevated compared to the average. There is no known inheritance pattern or measurable likelihood of having the condition.

Approximately 0.4% of the population have schizophrenia. Approximately 1% of people who have schizophrenia have the 22q11 deletion. Therefore if you have the variation you have a slightly elevated risk of developing schizophrenia.

Pros and Cons of Genetic Testing

Only 0.4% of the population have schizophrenia so the odds of a person having the condition are quite low. If a person has a history of schizophrenia it may be worth it to get the test done. People with a history of the condition in their family are more likely to have the disease than others. However, if there is no history of schizophrenia in your family the odds are even lower. Additionally, there are numerous variations that can cause the condition so even if the genetic test for the 22q11 deletion comes back negative a person may still have a risk of getting the condition.  Also, even if a person does test positive for having the 22q11 deletion mutation they are not guaranteed to have schizophrenia it may only increase their chances.

If a person gets the test they may be fooled by the results. For example, if the person gets results that say that they have the mutation they may be worried about getting schizophrenia. However, even if they have this mutation they only have a 25% chance of having the condition. This may cause unnecessary worrying by the individual who has the test. In addition, there are many different genes which contribute to the probability of having the condition so one genetic test cannot give the individual accurate knowledge of their risk of having the condition.

The consumer may also have to worry about genetic privacy concerns. Some companies that conduct genetic testing may sell the results or may be susceptible to hacking which will jeopardize the privacy of the results. If the results are leaked the consumer may worry about discrimination in the workplace if the employer has access to the results.

Studies on Schizophrenia and Genetic Testing

There was one study that I could find on how people react to knowing their genetic likelihood of having schizophrenia. In this study it was found that people who were genetically more likely to have the condition often told people about their diagnoses and some people were even considering telling their employer.

Concerns about genetic testing for schizophrenia among young adults at clinical high risk for psychosis

What to do after a Genetic Test

If a person tests positive or negative they should not overreact. Neither positive nor negative test results are conclusive. If a person tests positive they may want to be conscious of the symptoms of schizophrenia. Then they could be conscious of whether they are feeling the effects of the condition and take measures to prevent it from progressing too far. Also if a person tests positive they could take steps to avoid certain activities that may put them more at risk for developing the condition. The best ways to avoid the development of schizophrenia is avoiding drugs (including alcohol) and socializing with others.

It would be helpful to tell a doctor if you have an increased risk of schizophrenia because the doctor can look out for symptoms of the condition. Often a person who has schizophrenia will not be in a good mental state so they may not voluntarily tell their doctor of their altered mental state. If the doctor knows that their patient is at higher risk of the disorder they may be more likely to notice any psychological changes.

If a person tests positive they should have psychological testing done. This will help them understand if they do have the condition and what to look out for within their mental state.

If a person thinks they are at a higher risk for developing schizophrenia they can make some efforts to lower those risks. They should avoid drugs and not overindulge on alcohol. In addition, they should try to be social and gain a positive perspective on the world. Doing these things will reduce the chances that a person develops schizophrenia.

Sources

Bhugra, Dinesh. “The Global Prevalence of Schizophrenia”. PLOS medicine. May 2005. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1140960/

Lawrence, Ryan E., et al.”Concerns about Genetic Testing for Schizophrenia among Young Adults at Clinical High Risk for Psychosis”. HHS Public Access. Jan 2017. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4982510/

Gejman, PV, Sanders, AR, and Duan, J. “The Role of Genetics in the Etiology of Schizophrenia”. HHS Public Access. March 2011. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2826121/

Patel, Krishna R., Cherian, Jessica, Gohil, Junj, and Atkinson, Dylan. “Schizophrenia: Overview and Treatment Options”. P&T. September 2014. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4159061/

Lawrence, Ryan E., et, al. “Concerns about genetic testing for schizophrenia among young adults at clinical high risk for psychosis” AJOB primary research. July 2016. https://www.bioethics.net/articles/concerns-about-genetic-testing-for-schizophrenia-among-young-adults-at-clinical-high-risk-for-psychosis/

Bassett, Anne S., Chow, Eva W.C. “Schizophrenia and 22q11.2 Deletion Syndrome“ Canadian Institutes of Health Research. July 2011. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129332/

By Eryn Hasty

            Schizophrenia is a mental disorder that causes a person affected by it to have a difficult time determining a difference in reality from delusions.  Sufferers of schizophrenia have numerous mental struggles including delusions, hallucinations, disorganized thinking and speech, abnormal motor behaviors, and lack of proper self-care or emotion (3).  Schizophrenia is not very prevalent in the human population, with only about a 1% of the world population diagnosed in the world and 1.2% of the United States population diagnosed (5).  There have been numerous studies conducted regarding Schizophrenia, and it’s genetic components, but the amount of SNPs that have been believed to be associated with the mental disorder is through the roof.  More recent studies have linked variations in approximately 20,000 different SNPs that influence the development of Schizophrenia (6).  Other genetically related diseases typically do not have such a broad SNP range. 

            A recent study has determined that the SNPs rs13194504 and rs210133 have an impact on the development of schizophrenia.  More specifically, the signal found between these two SNPs is what could be the culprit.  The C4A and C4B alleles found in this region can form different structures among different humans creating varying amounts of C4A expression in a person’s genome.  Researchers determined that a higher risk of Schizophrenia is related to a greater expression of this C4A allele, and a maximum relative risk documented at this time is 1.27.  The reason is because C4A expression deals with synaptic pruning in the brain (6).  Synaptic pruning is the natural removal of synapses, structures that allow the transmission of neural signals, from the brain.  Pruning of the brain typically begins during early childhood and lasts into late teens or early adulthood (1).  With excessive pruning, those with schizophrenia have less synapses in their brains compared to those without schizophrenia. With schizophrenia being a neurological disorder, the reduction in neural connections makes sense as to why those diagnosed with schizophrenia have such abnormal and delusional mental processes.  Another factor that makes sense, the timeline of typical schizophrenia diagnoses occurring around adolescences, which would be about the same time the excessive synaptic pruning becomes noticeable.

            With so many factors that influence Schizophrenia, is it really worth it to get genetically tested for Schizophrenia?  In my opinion, no.  The reason is that there is not a specific gene, or even 100 specific genes, that are widely recognized as the contributor to Schizophrenia.  As stated above, there are over 20,000 SNPs that have variations believed to contribute to development of schizophrenia.  Now, if someone were to insist they be tested I would suggest a few methods based on how much information they are looking for.  If they want to know if they have even the tiniest variation in any of the SNPs associated with Schizophrenia, then I would have to tell them they need a whole genome sequence done.  As of 2014, this will cost approximately $1325.  With this done then the person has access to all of their SNPs, including all 20,000 that have previously been correlated to Schizophrenia development, but this will most likely be of little value to the average person.  My best recommendation for those who do not want to an entire genome sequence done would be to have specific testing done on the most prevalent genes such as the structure of the C4A allele mentioned above.  The Human Exome consortium has developed and is still improving a schizophrenia-oriented SNP chips based on genomes of those previously diagnosed with schizophrenia.  These chips test a handful of SNPs commonly linked to Schizophrenia.  A SNP chip typically costs around $300, which is much more reasonable.  Again, genetic testing may not share a lot of information as the cause of this mental disorder has so much variation, so most testing is not reliable when it comes to determining the schizophrenia trait.

            Scientifically, taking genetic tests to try and determine this are not very reliable and useful.   For example, just because someone has more or less C4A alleles than someone else does not necessarily mean that they will have significant synaptic pruning to cause neurological problems.  The Indiana University School of Medicine wrote an article regarding their new test that may predict risks of schizophrenia.  The test measures your C4A allele and the synapses in a persons brain and uses it to determine a possibility of schizophrenia, but even the scientists studying stated, “…[the test] doesn’t determine your destiny. It just means that your neuronal connectivity is different, which could make you more creative, or more prone to illness.” (4).  This statement is the pure definition of genetic test results: unknown.  Just because someone has more or less synapses in their brain that does not necessarily mean it is going to be a negative effect.  Everyone has brain variation, and only 1% of the population actually has schizophrenia.  This test may cause unnecessary stress in a person’s life if they are found to have a certain allele that may cause problems, or the have a few less synapses than the person next to them.  On the other hand, Schizophrenia is so mysterious genetically that just because they appear to have a “clean genetic health” a person could still develop a disease such as Schizophrenia.

            Emotionally, genetic testing, especially for something as serious as schizophrenia, is most likely just going to cause unnecessary stress in someone’s life should they test positive.  The Genetics Home Reference explains that most risks that do come from genetic testing are related to emotional, social, and financial outcomes (9).  A major issue that is often not thought about is how genetic testing affects other members of the family.  If a parent of multiple children has schizophrenia and one child wants to be tested while another does not this could cause issues after results are received.  If the results come back with bad news, this could cause tension and stress in the life of the sibling who did not want to be tested. They know their sibling has higher risks, therefore they might as well (9). There are also ethical concerns regarding the publication of research and the right to personal health privacy through genetic testing.  There are currently no “safeguards” on sharing data from patients (7).  Also, if one family member is willing to share genetic information while another is not, who wins the battle?  This major issue arises more frequently than not, and there are numerous debates on the importance of sharing genetic data while also protecting a patient and his/her family (7).

            With that being said, family history is a major factor that determines a person’s decision to get genetically tested for certain diseases.  The reason I chose to research Schizophrenia is because my great grandmother suffered from psychosis and I believe was eventually diagnosed with Schizophrenia.  Growing up I did not know this about her and did not find out until years after her passing.  This sparked my interest in the disease as if genetically linked I could carry the gene.  According to Schizophrenia.com, the base risk for this gene is 1%, but with one diagnosed parent, the offspring has a 10% chance of inheriting the disease.  As someone who has schizophrenia in the family, I still feel as though 10% is fairly low, and since it has not been seen in generations since I feel the need to get tested is not necessary.  I also feel this because schizophrenia is so difficult to read genetically.  If this were another disease that is much easier to determine based on genetics, then it might be a different story.  I would recommend to those who believe they are at risk to diagnose and treat as early as possible.  Seeking psychiatric services will allow for an early diagnosis which allows for an early treatment.  Medications and therapy allow those who suffer from schizophrenia to manage their symptoms and live close to normal lives (3).

            Should a person choose to get tested, they must prepare for their results, and remember to take both a positive and a negative with a grain of salt, as results could still be inaccurate.  If tested positive, or more likely to develop, a person should consult with their doctor regarding medications, treatments, stress management techniques, etc. so they are prepared and ready to battle schizophrenic effects should they arise.  A few environmental factors should be taken into consideration such as decreasing use of hallucinogenic drugs such as cannabis, as well as refraining from stressful activities.  Other than that, it is recommended to go on living life as usual because as said before, genetic testing for this disease is unreliable.

            All in all, Schizophrenia is one of the trickiest genetic diseases to study and test.  It has so many different genetic and environmental factors that makes the process of determining genetic likelihood and even diagnoses difficult.  Hopefully, in years to come we can find a more definite genetic test or cause of this mental disorder, so there are less questions.  For now, our society will have to continue researching and working towards finding clearer answers while understanding the ineffectiveness and unreliability that comes with genetic testing for Schizophrenia.

Sources

(1) Cafasso, J. (2018, January 3). Healthline: What Is Synaptic Pruning? Retrieved from https://www.healthline.com/health/synaptic-pruning.

(2) Hickman, R. J. (2019, August 6). An Overview of Schizophrenia. Retrieved from https://www.verywellmind.com/schizophrenia-what-you-need-to-know-4156588.

(3) Mayo Clinic. (2018, April 10). Schizophrenia. Retrieved from https://www.mayoclinic.org/diseases-conditions/schizophrenia/symptoms-causes/syc-20354443.

(4) Rattue, G. (2012, May 19). Genetic Test May Predict Risk Of Schizophrenia. Retrieved from https://www.medicalnewstoday.com/articles/245591.php#2.

(5) Recovery Brands, LLC. (2019). Schizophrenia Symptoms, Patterns and Statistics and Patterns. Retrieved from https://www.mentalhelp.net/schizophrenia/statistics/.

(6) SNPedia. (2017, October 20). Schizophrenia. Retrieved from https://www.snpedia.com/index.php/Schizophrenia.

(7) Takashima, K., Maru, Y., Mori, S., Mano, H., Noda, T., & Muto, K. (2018, June 18). Ethical concerns on sharing genomic data including patients’ family members. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006763/.

(8) The Infographics Show. (2019, March 24). Why Do People With Schizophrenia See Things (Schizophrenia Explained)? Retrieved from https://www.youtube.com/watch?v=MN3BpNT8xqc.

(9) What are the risks and limitations of genetic testing? – Genetics Home Reference – NIH. (2019, November 26). Retrieved from https://ghr.nlm.nih.gov/primer/testing/riskslimitations.

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.