02/15/2024
Cardiovascular disease (CVD) is among the leading causes of death worldwide. A variety of studies have been undertaken to determine how to combat this condition. Epidemiological studies, for example, have substantially aided our understanding of the underlying causes of cardiovascular disease. Randomized controlled trials have been done to demonstrate the efficacy of interventions targeting characteristics identified through epidemiological studies. On the other hand, it is well known that CVD is a highly heritable trait; hence, genetic variables should be included in CVD clinical practice. Family history information has long been considered as a means to accomplish this goal, and studies have demonstrated that it works pretty well for CVD risk assessment. Recent developments in genetics have shed light on genes associated with CVD development. By thoroughly examining the relationships between the human genome and CVD, one can identify high-risk patients early in life, develop precision medicine procedures based on their causes, and discover new therapeutic approaches.
Is CVD a Trait Passed Down Through Generations?
If you ask, is CVD passed down through the generations? The answer is yes. Epidemiological studies have found that family history is highly related to CVD, implying that CVD is a heritable feature. According to data from twin research, CVD has a heritability of approximately 50%. Per these findings, a current clinical guideline on preventative atherosclerotic CVD (ASCVD) in Japan strongly recommends examining family history. Various heart diseases can be caused by certain genetic variants. For example, the following genes are associated with the development of cardiomyopathies: MYH7, MYBPC3, TNNT2, TNNI3, and LMNA
Other genes can cause related disorders that may raise the risk of heart disease, such as familial hypercholesterolemia (FH): LDLR, APOB, PCSK9
Inherited Cardiac Conditions (Genetic Disorders)
Many cardiac problems, such as arrhythmias, congenital heart disease, cardiomyopathy, and excessive blood cholesterol, are passed down through generations. Coronary artery disease, which causes heart attacks, strokes, and heart failure, can run in families, indicating inherited genetic risk factors. Genetics can influence heart disease risk in a variety of ways. Genes influence every part of the cardiovascular system, from blood vessel strength to heart cell communication. A genetic alteration (mutation) in a single gene can influence the risk of developing heart disease. For example, a genetic difference can alter the way a specific protein functions, causing the body to metabolize cholesterol differently, and raising the probability of artery blockage. Genetic differences are handed down from parents to children through the DNA of eggs and sperm. During development, the parents' genetic code gets copied into each cell of the child's body. When a family member is diagnosed with heart disease or a heart problem, accompanying family members are advised to get screened for risk factors and early-stage disease that may not be causing symptoms. and
Inherited diseases that cause arrhythmias and abrupt cardiac death are very well understood. Hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy (ARVC) can both result in fatal arrhythmias.
Several hereditary illnesses can induce arrhythmias and abrupt cardiac death. Some of these are exceptionally rare. The most prevalent ones are:
- Atrial fibrillation is a frequent arrhythmia that raises the risk of stroke.
- Brugada syndrome is a genetic condition of heart rhythm that can induce ventricular fibrillation and abrupt cardiac arrest.
- Catecholaminergic polymorphic ventricular tachycardia is a disease of the calcium channels in the heart muscle that causes issues with electrical signaling and irregular heartbeats, especially during exertion.
- Long QT syndrome is a prolonged electrical recovery phase (QT interval) of the heartbeat, which can result in fast, erratic beats.
- Short QT syndrome is a shortened QT interval that can cause life-threatening arrhythmias.
Family members of victims of sudden cardiac death should get medical screening. If relatives of the dead are suspected of having an inherited condition that puts them at risk, there are preventive therapy options available. These include pharmacological therapy and implanted devices.
Can I Overcome A Genetic Predisposition?
If you have a family history of cardiac problems, such as coronary artery disease, making favorable lifestyle choices can help. A heart-healthy diet, frequent exercise, and avoiding tobacco reduce the incidence of coronary events, independent of hereditary risk. Studies have found that "people with good genes making poor lifestyle choices had the same coronary event risk as those with bad genes making good lifestyle choices."
When Is Genetic Testing For Heart Disease Recommended?
Genetic testing is recommended for patients with specific types of cardiomyopathies and arrhythmia illnesses, such as
- Hypertrophic cardiomyopathy (heart walls are significantly thicker than normal)
- Dilated cardiomyopathy (the heart is larger and weaker than usual)
- Arrhythmogenic right ventricular cardiomyopathy.
- Familial hypercholesterolemia.
- Long QT syndrome
- Brugada Syndrome
Genetic testing is advised when it is expected that the causing (pathogenic) gene mutation will be identified. In addition, if you have a first-degree relative (parent, sibling, or child) who has a harmful mutation, you should get genetic testing (and clinical screening) for that mutation. A person's DNA is tested using a blood sample, a cheek swab, or saliva.
Managing Heart Health
People with heart disease can take some preventive steps to improve their heart health. These may include:
- Avoiding Certain Fats: A diet heavy in saturated or trans fats may raise one's chance of acquiring heart disease.
- Eating less salt: Excess salt in a person's diet can cause high blood pressure. High blood pressure increases the chance of developing heart disease.
- Quit smoking: Smoking elevates blood pressure, increasing the risk of heart disease.
- Drinking less alcohol: Excessive alcohol consumption raises blood pressure and lipid levels. Both raise the likelihood of the individual having heart disease.
- Managing stress: Stress elevates blood pressure, increasing the risk of developing heart disease. It can also indirectly cause heart disease through coping behaviors such as smoking, excessive alcohol consumption, or overeating.
- Regular exercise: Inadequate physical activity can increase the chance of acquiring heart disease and other medical disorders.
- Managing Their Weight: Obesity increases a person's risk of acquiring additional illnesses that lead to heart disease, such as high blood pressure and diabetes.
Conclusion
A person's genetics may raise their chance of acquiring specific types of heart disease. If a person's family history includes heart disease, they should speak with a doctor about screening alternatives. These may include gathering information from relatives and conducting genetic testing. Furthermore, a person may consider making some lifestyle changes, such as exercising regularly, eating a nutritious diet, and quitting smoking if necessary, to help minimize their chance of having heart disease.