1. Introduction
Heart disease is one of the leading causes of death worldwide, with more than 18 million people dying annually from cardiovascular-related diseases. Cardiac diseases include coronary artery disease (myocardial infarction and angina pectoris), cardiomyopathy, arrhythmia, and hypertensive heart disease, each with different risk factors.
Recent advances in genetic analysis technology have made it possible to assess the risk of developing heart disease at the genetic level. This has made it possible to identify an individual’s risk at an early stage and take appropriate preventive measures. This article details the assessment of heart disease risk due to genetic factors and the measures that can be taken based on this assessment.
2. Relationship between genes and heart disease
2.1. What are the genetic factors of heart disease?
While lifestyle and environmental factors (diet, lack of exercise, smoking, stress, etc.) play a major role in the development of heart disease, recent studies have shown that genetic factors also play an important role. In particular, the following genetic mutations have been reported to increase the risk of heart disease
- LDLR (low-density lipoprotein receptor): involved in the metabolism of LDL cholesterol (bad cholesterol); mutations cause familial hypercholesterolemia (FH) and increase the risk of coronary artery disease.
- PCSK9: Involved in the breakdown of LDL cholesterol; loss-of-function mutations reduce the risk of heart disease, while gain-of-function mutations increase risk.
- APOA5: Involved in triglyceride (triglyceride) metabolism; mutation predisposes to dyslipidemia and progression of atherosclerosis.
- SCN5A: regulates myocardial electrical activity and is involved in the risk of arrhythmias; causes Brugada syndrome, QT prolongation syndrome, etc.
These genetic variants provide important information for individualized assessment of risk for cardiac disease.
2.2. Risk assessment by genetic testing
Genetic testing is an effective way to determine genetic risk for heart disease. Genetic testing identifies risk factors by collecting blood or saliva samples and analyzing their DNA.
- Detection of single gene mutations: when a specific gene mutation is directly related to cardiac disease risk, such as LDLR or PCSK9.
- Polygenic Risk Score (PRS): a method to evaluate multiple genetic variants in an integrated manner and calculate overall risk.
The Polygenic Risk Score is useful for risk assessment by combining genetic information with lifestyle habits to provide highly accurate predictions.
3. Preventive measures for people at risk for heart disease
If genetic testing reveals that you are at high risk for heart disease, you can reduce your risk by taking appropriate preventive measures.
3.1. dietary cure
People at risk for heart disease can reduce the progression of atherosclerosis by practicing proper dietary habits.
- Reduce cholesterol and saturated fat intake: reduce intake of red meat and processed foods and utilize fish, nuts and olive oil.
- Increase fiber intake: vegetables, fruits, and whole grains to regulate blood lipids.
- Be aware of salt reduction: reduce salt intake to less than 5 grams per day to prevent high blood pressure.
3.2. Establish an exercise routine
Even if you are genetically at high risk for heart disease, you can reduce your risk of developing it by continuing to exercise moderately.
- Aerobic exercise: walking, jogging, swimming, etc. for at least 150 minutes per week to strengthen cardiopulmonary function.
- Strength training: increases muscle mass, improves metabolism, and stabilizes blood pressure and blood sugar levels.
- Stretching and relaxation: incorporate yoga and deep breathing for stress reduction.
3.3. Medical management and medication
In cases of high genetic risk, it is important to undergo regular physical examinations and appropriate treatment.
- Statins: lower LDL cholesterol and prevent progression of atherosclerosis.
- PCSK9 inhibitor: A treatment that effectively lowers LDL cholesterol for people with PCSK9 gene mutations.
- Antiplatelet agents (e.g., aspirin): prevent clot formation and reduce the risk of myocardial and cerebral infarction.
4. Using Genetic Information to Prevent Heart Disease in the Next Generation
4.1. Integration of AI and genetic data
Advances in AI technology are enabling the integration of genetic and lifestyle data to more accurately predict the risk of developing heart disease.
- Big data analysis: AI analyzes millions of genetic data to discover new risk factors.
- Linkage with smart wearable devices: Heart rate and blood pressure data are recorded in real time for personalized and optimized health management.
4.2. Possibility of Gene Therapy
Currently, research on gene editing technology (CRISPR) is underway, and it is believed that a future in which radical prevention and treatment of cardiac disease will be possible is near at hand.
- Editing of genes that regulate LDL cholesterol
- Gene therapy to promote cardiomyocyte regeneration
- Development of novel therapies to suppress the progression of atherosclerosis
Future technological advances may lead to the establishment of innovative therapies to prevent the onset of cardiac disease.
5. Lifestyle changes that people at risk for heart disease should be aware of
If genetic testing reveals that you are at high risk for heart disease, there are many points in your daily life that you can consciously improve. Below are some specific lifestyle modifications.
5.1. Stress management and mental health maintenance
Stress is one of the major factors that increase the risk of heart disease. Especially for those who are genetically predisposed to a strong sympathetic nervous system, chronic stress can easily lead to elevated blood pressure and arteriosclerosis.
- Meditation and mindfulness practice: Making it a habit to meditate for 10 minutes a day helps balance the autonomic nervous system and stabilize heart rate and blood pressure.
- Ensure a good night’s sleep: avoid using smartphones and computers one hour before bedtime, as sleep deprivation increases the risk of high blood pressure and heart disease.
- Allow time for hobbies and relaxation: listen to your favorite music, take a walk, etc. to maintain mental stability.
5.2. Smoking cessation and appropriate alcohol consumption
Smoking and excessive alcohol consumption are factors that significantly increase the risk of developing heart disease. If you are genetically predisposed to fragile blood vessels, you can reduce your risk by reviewing these habits.
- Thoroughly quit smoking: Nicotine constricts blood vessels and causes arteriosclerosis to develop. E-cigarettes can similarly adversely affect vascular function and should be avoided.
- Adhere to moderate amounts of alcohol: Moderate alcohol consumption (about a glass of red wine) may have a positive effect on the cardiovascular system, but high intake should be avoided because it raises blood pressure.
5.3. Blood pressure control and salt intake control
Hypertension is a major factor in cardiac disease risk, especially in those who are genetically predisposed to hypertension.
- Practice salt reduction: Reduce salt intake to 5g or less per day by avoiding processed and instant foods.
- Active potassium intake: Consume potassium-rich foods such as bananas, spinach, and potatoes to promote sodium (salt) elimination.
- Making blood pressure measurement a habit: Early detection of abnormalities by utilizing a home blood pressure monitor and checking blood pressure regularly.
5.4. Utilization of Personal Supplementation with Genetic Information
In recent years, a service has emerged that uses the results of genetic testing to select supplements suited to an individual’s constitution.
- Omega-3 fatty acids (EPA and DHA): reduce the progression of atherosclerosis and reduce the risk of heart disease. Can be supplemented with blue fish, flaxseed oil, and supplements.
- Coenzyme Q10 (CoQ10): Helps myocardial energy metabolism and is effective in preventing heart failure and atherosclerosis.
- Vitamin D: regulates blood pressure and contributes to cardiovascular health. In addition to sun exposure and dietary intake, supplementation is also effective.
6. Measures for Families at Risk for Heart Disease
If genetic testing reveals that a family member is at risk for heart disease, early prevention is important. A family-wide approach to health care can minimize the risk.
6.1. Recommendation for family-based health checkups
Because heart disease is highly heritable, it is important that all family members undergo regular physical examinations if they are found to be at high risk.
- Annual EKG for family members over 40 years of age
- Regularly measure cholesterol levels and blood pressure
- Consider testing (carotid artery echo, CT scan, etc.) to check progression of arteriosclerosis
6.2. Improved diet in the home
If you have a family member at high risk for heart disease, it is important to review the diet of the entire household.
- Base the diet on low-sodium, low-fat foods
- Reduce frequency of eating out and processed foods
- Develop healthy habits while enjoying meals together as a family
6.3. Health education from childhood
In families with a genetically high risk of heart disease, it is important to develop healthy lifestyle habits from a young age.
- Incorporate exercise habits from childhood
- Provide opportunities to learn about the importance of nutritional balance
- Practice a healthy lifestyle for the whole family
7. Latest Research and Technological Advances in Cardiac Disease Prevention
7.1. Gene Editing Technology to Prevent Cardiac Disease
With the development of gene editing technologies such as CRISPR-Cas9, attempts are underway to modify risk genes for cardiac disease.
- Development of treatments to correct LDL cholesterol abnormalities
- Gene editing to prevent hereditary arrhythmias
- Research on gene modification techniques to slow the aging of blood vessels
7.2. Developing Personalized Medicine Using AI
AI is being used to assess cardiac disease risk and optimize treatment plans.
- Personalized health advice combining genetic data and lifestyle information
- Early detection of arrhythmia and heart failure through ECG data analysis by AI
- Real-time health monitoring linked to wearable devices
8. Cardiac disease risk monitoring and ongoing health management
While genetic information can be used to identify the risk of heart disease, knowing the risk is not enough. Regular monitoring and ongoing health management can prevent the development of heart disease and extend healthy life expectancy.
8.1. Routine physical examinations and risk assessment
If you are genetically at high risk for heart disease, it is recommended that you undergo more in-depth testing than a general physical examination.
- Electrocardiogram (ECG) examination: An annual ECG examination is recommended for early detection of arrhythmias and cardiac abnormalities.
- Holter electrocardiogram: records electrocardiograms for 24 hours to check for abnormalities in daily life.
- Blood tests (LDL cholesterol, HDL cholesterol, triglycerides, CRP): comprehensive risk assessment including inflammatory markers.
- Cardiac CT scan or MRI: visualizes the condition of coronary arteries and checks the progression of atherosclerosis.
- ABI (ankle-brachial index) test: A simple method to measure the progression of arterial stiffness.
8.2. Real-time monitoring using wearable devices
Recently, wearable devices that can monitor heart rate and blood pressure in real time have emerged to help people at risk for heart disease manage their health.
- Smartwatches (Apple Watch, Fitbit, Garmin, etc.): simple measurement of heart rate, blood pressure, and ECG.
- Blood pressure measurement smart band: A device with the ability to regularly measure blood pressure and notify you if there are any abnormalities.
- Sleep monitoring function: Detects abnormalities (apnea syndrome and arrhythmia) during sleep and prompts the patient to seek medical attention.
Integrating wearable devices with genetic information allows for more personalized health management.
9. Personalized Medicine and Future Cardiac Disease Prevention
With the advancement of genetic analysis technology, it is expected that even more accurate cardiac disease prevention measures will be developed in the future.
9.1. Advancement of personalized medicine using genetic information
Conventional medicine has been dominated by “one-size-fits-all treatments,” but it is believed that tailor-made medicine based on genetic information will become more widespread in the future.
- Selection of antihypertensive medications based on genes: specific genetic mutations cause different effects of medications, so the best antihypertensive medications are selected.
- Risk assessment and prevention of heart failure: Based on genetic information, the risk of myocardial deterioration is predicted and treatment is initiated at an early stage.
- Customization of antiplatelet drugs for prevention of blood clots: Genes involved in blood clotting are analyzed and appropriate antiplatelet drugs are prescribed.
9.2. Gene therapy using CRISPR technology
Advances in gene editing technology, CRISPR-Cas9, are leading to the development of therapies that reduce the underlying risk of cardiac disease.
- Treatment of familial hypercholesterolemia (FH): correct LDLR gene abnormalities and normalize LDL cholesterol.
- Prevention of hereditary cardiomyopathy: Corrects abnormalities in cardiomyocytes, reducing the risk of heart failure and sudden death.
- Treatment for those who are genetically predisposed to hypertension: regulate genes involved in blood pressure regulation and radically suppress hypertension.
In the future, as gene therapy becomes safer and more widely available, options for prevention and treatment of heart disease will greatly expand.
10. Heart Disease Prevention and the Use of Genetic Information in Society as a Whole
Heart disease is not only an individual problem, but also affects the health care of society as a whole. Genetic information can be used to promote more effective preventive measures.
10.1. Integration of health insurance and genetic testing
Some countries have begun to incorporate genetic testing into their public health care systems and use it as part of preventive medicine.
- Provide free or low-cost genetic testing: early identification of at-risk individuals to enhance preventive medicine.
- Integration of health checkups and genetic data: combining the results of health checkups with genetic information to conduct more detailed health assessments.
- Optimizing health care costs according to genetic risk: Reducing long-term health care costs by strengthening preventive measures.
10.2. Application to health management in companies and workplaces
By utilizing genetic information, companies can also manage the health of their employees more effectively.
- Regular health risk assessment in the workplace: Utilize genetic testing to determine the health status of employees.
- Implement a stress management program: provide appropriate support for employees with genetically low stress tolerance.
- Health guidance based on genetic information: diet and exercise guidance tailored to individual risk.
If such initiatives spread, they are expected to contribute to increased labor productivity and reduced health care costs.
11. Using Genetic Information to Fight Future Heart Disease
The use of genetic information in the prevention and treatment of cardiac disease will continue to develop, leading to more effective and personalized medicine. Here we take a closer look at promising technologies and new approaches.
11.1. Very early diagnosis by genetic profiling
Advances in genetic analysis technology make it possible to accurately predict risk and take appropriate preventive measures before the onset of heart disease.
- Prenatal and early childhood genetic screening: genetic mutations that carry a risk of heart disease are identified at birth and a lifelong prevention plan is developed.
- Combination of blood biomarkers and genetic analysis: Integrate genetic information with blood proteins and metabolites to detect minute changes before the onset of disease.
- AI-based individual risk assessment: AI analyzes genetic data from tens of millions of people and calculates risk scores individually.
With the widespread use of these technologies, the risk of cardiac disease can be identified at an earlier stage, and lifestyle modifications and medical interventions can be made at the right time.
11.2. Widespread use of precision medicine and tailor-made treatments
Currently, treatment of cardiac disease is based on certain protocols, but with the spread of precision medicine (Precision Medicine) that utilizes genetic information, more personalized treatment will become possible.
- Genotype-based drug selection: identify patients who are genetically incompatible with certain antihypertensive or antiplatelet drugs and prescribe the most appropriate drug.
- Inhibition of the progression of atherosclerosis: Utilization of new generation drugs such as PCSK9 inhibitors for those who are genetically prone to high cholesterol.
- Personalized rehabilitation program: Optimal exercise therapy for people at risk of cardiac disease is proposed based on genetic information.
This increases the likelihood of higher therapeutic efficacy while minimizing side effects.
11.3. Fundamental Risk Reduction through Gene Editing Technology
With the development of gene editing technologies such as CRISPR-Cas9, a future that corrects the genetic mutations that cause heart disease and prevents the onset of the disease itself is anticipated.
- Gene therapy for familial hypercholesterolemia (FH): corrects LDLR gene abnormalities and eliminates the need for lifelong cholesterol management.
- Gene therapy for arrhythmia: correcting mutations in the SCN5A gene and radically treating Brugada syndrome and QT prolongation syndrome.
- Gene therapy to delay vascular aging: activates genes that inhibit the progression of atherosclerosis and rejuvenates vascular age.
If such technology can be safely disseminated, people with inherited heart disease may be able to maintain a healthy heart throughout their lives.
12. Society-wide measures to reduce the risk of heart disease
The use of genetic information to prevent heart disease has evolved beyond health management at the individual level into an effort to improve the health standards of society as a whole.
12.1. Adoption of genetic testing as public policy
In some countries, genetic testing is being incorporated into public systems to identify people at high risk for heart disease and to provide preventive care.
- Genetic screening as part of the National Health Assessment: early intervention for people with specific risk genes.
- Prevention programs linked to health insurance: medical subsidies and health guidance programs are offered to those at high genetic risk.
- Special lifestyle guidance for high-risk groups: experts assist with guidance on exercise, diet, and stress management.
It is hoped that the spread of such policies will reduce the risk of heart disease in society as a whole and contribute to the reduction of health care costs.
12.2. Enhancement of health education and awareness
As preventive medicine using genetic information develops, it will be important to improve the health literacy of the public.
- Learning about genes and health in school education: the concept of genetic risk is taught from a young age to raise awareness of health care.
- Introduction of health programs by companies and municipalities: incorporating genetic testing into workplace health checkups and providing appropriate preventive measures.
- Promote genetic counseling: increase access to professional support to help people understand test results and take appropriate action.
This provides the knowledge and environment to not only take a genetic test, but also to correctly interpret and act on the results.
13. Future Healthy Society Using Genetic Information
Further development and general adoption of genetic analysis technology will dramatically improve the prevention and management of cardiac and other chronic diseases.
- Establishment of fully personalized medicine: Based on each individual’s genetic information, optimal treatment and lifestyle are proposed.
- Health management with AI and Big Data: Integrate genetic information, lifestyle data, and environmental factors to provide optimal health strategies in real time.
- Reduce medical costs and realize a society with longevity: Prevent the onset of serious diseases and extend healthy life expectancy through the spread of preventive medicine using genetic testing.
These advances will lead to a society in which more people can lead healthy and long lives while preventing the onset of disease.
14. Challenges and Prospects for Heart Disease Prevention Using Genetic Information
Advances in genetic analysis technology have made it possible to assess individual risk of heart disease and take preventive measures. However, challenges to practical application also exist.
14.1. Widespread use and cost of genetic testing
Although the cost of genetic testing is currently coming down, it is still expensive compared to a general health examination. In particular, evaluation using whole genome analysis and polygenic risk score (PRS) is not readily available to everyone due to the heavy burden on the individual. In the future, more low-cost and highly accurate tests should become widely available.
14.2. The Importance of Privacy and Data Protection
Genetic information is extremely personal data and, if improperly managed, can lead to privacy violations and discrimination. In particular, misuse of genetic information by insurance companies and employers is a concern, and legal regulations need to be developed.
14.3. Establishment of a new medical model utilizing genetic information
In the future, a “prevention-centered medical model” based on genetic information is expected to be established. Rather than treating diseases after they have developed, the mainstream approach will be to prevent diseases before they occur by identifying risks at an early stage, making lifestyle adjustments, and providing appropriate medical interventions.
summary
The use of genetic information to assess and prevent the risk of heart disease has made great strides in the development of personalized medicine. Genetic testing can identify individual risk and effectively reduce the risk of developing the disease through a combination of appropriate diet, exercise, stress management, and drug therapy. At the same time, however, there are challenges to widespread use, such as data privacy protection and cost issues. As technological innovation and social systems continue to improve, we can look forward to a future in which more people can utilize genetic information to extend their healthy lifespan.
