Common Gene Variations and Their Impact on Heart Health
Did you know your DNA could hold secrets to your heart’s health?
While lifestyle choices like diet and exercise often take center stage in heart disease prevention, genetics play a starring role behind the scenes. Some people inherit higher risks of heart disease through an infected family tree, meaning that perfect cholesterol levels and daily workouts may not be enough to keep heart problems away.
According to the World Health Organization, heart disease is the leading cause of death worldwide, responsible for over 18 million deaths annually. However, 60% of cardiovascular risk can be traced back to genetic factors. This means your genetic makeup and inherited DNA is a map of potential heart-related challenges and health problems.
Keep reading to explore the links between genetics and heart disease.
What is the Most Common Genetically Inherited Heart Condition?
Hypertrophic cardiomyopathy is the most common genetically inherited heart condition, affecting 1 in 500 people worldwide (of those who are diagnosed).
If you’ve ever heard of a young athlete collapsing suddenly during a game, there’s a chance HCM was the culprit. The condition thickens the heart muscle, often without early warning signs. However, when symptoms finally appear, they include severe chest pains, shortness of breath, and noticeable arrhythmias (irregular heartbeats).
Genetics and heart disease are interlinked from the moment you are created. Have you ever heard of MYH7 or MYBPC3? These genetic mutations of proteins in the heart muscle are passed down through generations. If one parent carries the mutation, their children have a 50% chance of inheriting it, which could develop into full-blown heart disease in adulthood.
How Do Genetics Influence Heart Disease?
High cholesterol, smoking, and poor diet are valid factors, but genetics could be the most significant cause. It shapes your risk from the moment of conception.
For example, familial hypercholesterolemia (FH) is an inherited condition that causes LDL cholesterol to skyrocket, regardless of perfect diet and exercise routines. Affecting 1 in 250 people, FH can increase the risk of heart disease 20 times, but many people have no idea they are afflicted until symptoms become overwhelming.
Variants in common genes like APOE can determine how well your body metabolizes fats. This means genetics can dictate your risk for atherosclerosis, a condition that restricts blood flow to vital organs and uses plaque buildup to narrow arteries.
So, how much control do you have over the health of your heart? Genetics may account for significant outcomes, but lifestyle choices can tilt the odds in your favor. Maintaining a healthy diet, establishing a heart-healthy exercise routine, and managing stress can help, even when genetics are dragging you in the wrong direction.
Think of it this way: manage what you can control and let science help with what you can’t.
Which Genetic Problem is Associated with Heart Defects?
Congenital heart defects that occur when the heart doesn’t develop properly before birth are often linked to genetic abnormalities. One example is Down syndrome, caused by an extra chromosome 21, significantly increasing the risk of heart defects like atrial septal defects (holes in the heart).
Single-gene mutations also play a part. Mutations in the NKX2-5 gene (which regulates heart growth during the embryonic state) can cause structural damage, resulting in devastating defects and irregular heartbeat. Minor gene changes during heart development can be critical, reinforcing the importance of early ultrasound and genetic screenings in families with histories of congenital heart problems.
What Type of Gene Mutation Causes Heart Disease?
Regarding genetics and heart disease, genetic mutations can be inherited (passed down from parents) or acquired (occurring during a lifetime due to environmental factors or aging).
Common genetic variants include:
- Missense Mutations. These involve a single letter change in your DNA, causing a protein to malfunction. For instance, missense mutations in the RYR2 gene (responsible for regulated calcium release in heart muscle cells) can lead to rapid palpitations, fainting, and sudden heart attacks (in severe cases).
- Deletion Mutations. This is when a piece of DNA is missing entirely, often affecting the LMNA gene (responsible for structure and function). Deletion of LMNA is linked to dilated cardiomyopathy, which narrows the arteries, reduces proper blood flow, and weakens the heart’s ability to pump.
- Duplication Mutations. Too much of a gene can be bad. Extra copies of GATA4 (the gene that helps a heart grow from conception to birth), for example, can cause congenital heart defects.
Tailored Genetic Insights for Cardiovascular Health and Care
Heart health is more than beating the odds of genetics; it’s about working with the cards you’ve been dealt. Advanced research and therapies tailored to your genetic makeup can strengthen and make your heart more resilient, potentially preventing heart disease.
