What causes heart disease?
Heart disease isnt a single illness. Instead, it represents several conditions impacting the heart’s ability to function. The most common type of heart disease in the U.S. is coronary artery disease (CAD), which affects the blood flow to the heart. Other types of heart disease can affect the valves or heart muscle.
Some of these conditions are acquired, meaning they develop over the course of your life due to illness, infection or lifestyle factors. Others are inherited, meaning you are born with them.
In this post, we will take a closer look at genetic heart disease (also called inherited or congenital heart disease), including the different types of genetic heart disease, how to test for it and what to do if you have a higher likelihood for a heart condition.
What Is Genetic Heart Disease?
Genetic heart disease is any heart condition passed to you through your familys genetic makeup. These conditions are present from birth and come from abnormalities in your genes.
What Causes Genetic Heart Disease?
Simply put, faulty or mutated genes are behind genetic heart disease. Each of us is made up of between 20,000 and 25,000 different genes. Genetic heart disease is caused by a fault or mutation in one or more of your genes. If one of your parents had a mutation that caused heart disease, theres a 50% chance you will, too.
What Is Acquired Heart Disease?
Acquired heart diseases are those that dont stem from a genetic mutation. They can arise from various factors like your environment, lifestyle or infections. Common examples of acquired heart disease include coronary artery disease (often leading to heart attacks), high blood pressure and heart failure.
Types of Genetic Heart Disease
Common genetic heart diseases include:
- Cardiomyopathy. A condition where the heart muscle becomes enlarged, thick or rigid, affecting its ability to pump blood effectively.
- Cardiac amyloidosis. A disorder where faulty proteins build up in your heart.
- Heart arrhythmias. Irregular heartbeats that result from improper electrical activity in the heart.
- Heart valve disease. Malfunction of or damage to one or more of the heart’s valves, affecting blood flow.
- Familial thoracic aortic aneurysm syndrome. A condition that increases the risk of a bulge (aneurysm) in the upper part of the aorta.
- Familial Hypercholesterolemia. Elevated cholesterol levels in the blood that increase the risk of heart disease and stroke.
- Pulmonary hypertension. High blood pressure in the arteries to the lungs, making the right side of the heart work harder than usual.
Symptoms of Genetic Heart Disease
If you or a loved one experiences any of these symptoms, it’s important to check in with your provider, regardless of whether you have a family history of heart disease.
- Chest pain
- Fatigue
- Heart palpitations
- Lightheadedness
- Shortness of breath
Some people with genetic heart disease may not show symptoms at all. If an otherwise healthy family member dies suddenly of an unexplained cardiac event including sudden infant death syndrome its important to let your doctor know, as it could indicate a family history.
Diagnosing Genetic Heart Disease
Family history. As part of your exam, your doctor will review your family history, which includes assessing your risk of genetic heart disease. Collect information from your family members especially close relatives such as parents and siblings focusing on their history with heart disease, including at what age they experienced a cardiac event. If you dont know (and cant find out), your doctor will use other methods to determine the root cause of your heart condition.
Physical examination. Your doctor will evaluate your symptoms, including heart murmurs, and thoroughly go over your own medical history.
Diagnostic testing. Depending on your history and the presence of any symptoms, your provider may recommend tests such as echocardiography, MRI, CT or cardiac catheterization.
Genetic testing and counseling. Genetic testing can be a game-changer in identifying specific types of inherited heart disease.
According to the American Heart Association (AHA), genetic testing along with screening has the potential to identify more than 1 million U.S. adults who have familial hypercholesterolemia. Identifying familial hypercholesterolemia early in adulthood creates an opportunity for early treatment aimed at preventing heart attack and death.
However, genetic testing is not advised for all patients. The AHA recommends it be reserved for patients with a confirmed or suspected diagnosis of an inherited cardiovascular disease or for individuals at high risk due to a previously identified disease-causing variant (a gene abnormality that is different from most humans, often responsible for the clinical disease in question) in their family.
The AHA also strongly recommends that patients receive genetic counseling before and after any genetic tests to fully understand the limitations and implications.
Treatment for Genetic Heart Disease
While you cant control your genetics, there are things you can do to minimize your risk or even prevent heart disease despite a genetic predisposition.
Lifestyle changes. All of the lifestyle changes recommended to prevent acquired heart disease apply to the prevention and management of genetic heart disease, including eating a heart-healthy diet, getting plenty of exercise and sleep, and avoiding smoking, alcohol and excessive stress.
Medical Interventions. Depending on the type and severity of your condition, your care team may recommend medications or surgery to control, prevent or minimize the impact of your heart disease.
Support for Heart-Disease Patients and Caregivers
Understanding the root cause of your heart disease is important, but it may not lessen the feelings of fear, isolation or uncertainty that come along with any serious medical diagnosis. Remember, you dont have to face your condition alone. Find a support network in the form of family, friends or your MHI chapter or group. Leaning on others who understand is one of the best things you can do as you learn to live and thrive with heart disease.
Leave a Reply