- AdventHealth
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You’ve got your mother’s smile and your father’s eyes — or maybe vice versa. It’s great to pay homage to our family traits and where we get our best qualities. But when it comes to inherited health conditions, we get more serious about what runs in our families.
While lifestyle choices affect our chances of getting certain illnesses, some heart conditions can be passed down through our genes. Knowing your risk lets you stay ahead of the game before you experience symptoms.
We’re here to explain common heart conditions that can run in families, their symptoms and treatment options.
Aortopathy
Aortopathy is a term for conditions of the aorta, including aortic aneurysms and dissections.
Risk Factors
Genetics can cause aortopathy, or it may be caused by plaque buildup. Risk factors for developing it include:
- Age (over 65)
- Autoimmune disease
- High blood pressure
- High cholesterol
- Smoking
Symptoms
Aortopathy symptoms are the symptoms of the conditions it causes, like aneurysms, which may cause symptoms when close to rupturing, like trouble breathing and lower back or groin pain.
Diagnosis and Treatment
If you have a family history of aortic disease, your doctor can perform a physical exam or imaging tests. Genetic testing can offer answers about familial aortopathy. Treatments can include lifestyle changes, medications or surgical procedures.
Amyloidosis
Amyloidosis is the result of an abnormal unfolding of a protein that builds up in the tissue. There are two sources of amyloidosis. Bone marrow and the liver. Plasma cell disorder causes AL amyloidosis, which is considered a hematological emergency. If left untreated, it will have a lethal course.
TTR amyloidosis can be of two types, “wild type” or hereditary. Hereditary amyloidosis is a genetic disease where amyloid proteins build up in organs like the heart, digestive tract, kidneys or eyes.
Risk Factors
With this condition, a gene is passed from parent to child. In America, the most common form of the gene is seen in Black Americans.
Symptoms
Symptoms depend on which organ(s) has the amyloid deposits:
- Digestive system: diarrhea, weight loss, nausea
- Eyes: glaucoma, abnormal blood vessels in eyes
- Heart: irregular heartbeat, fatigue
- Kidneys: proteins in urine, kidney failure
- Nerve damage: numbness in feet and legs, trouble walking, dizziness
Diagnosis and Treatment
Genetic testing can pinpoint the gene that causes this condition. Treatment options will depend on the type of symptoms you have and may include an organ transplant.
Arrhythmia
Arrhythmia is the term for an abnormal heart rhythm and can refer to a variety of specific issues including tachycardia (when the heart beats too fast), ventricular fibrillation (a life-threatening condition where erratic electrical impulses prevent the heart from pumping blood as it should), bradycardia (when the heart beats too slow) and atrial fibrillation, or AFib, (where rapid heartbeat increases the likelihood of a stroke).
Symptoms
Some people may not experience any symptoms of arrhythmia, but the most common signs include:
- Chest pain
- Fluttering in the chest
- Skipped or racing heartbeat
- Shortness of breath
- Slow heartbeat
Diagnosis and Treatment
Your physician might perform an electrocardiogram or an echocardiogram imaging test to understand your symptoms. Treatment depends on the arrhythmia, and may include:
- Medications
- Ablation procedures (non-surgical)
- Maze procedures (surgical)
Congenital Heart Disease
Congenital heart defects develop before birth and affect how blood flows into the heart.
Risk Factors
Some congenital heart defects are genetic. Risk factors that increase the likelihood a baby will develop one include these during pregnancy:
- Alcohol use
- Contracting rubella
- Having diabetes
- Smoking
Symptoms
Many patients aren’t diagnosed until symptoms appear in adulthood, such as shortness of breath, trouble exercising or unexplained weight loss.
Diagnosis and Treatment
A physician can perform a variety of tests to aid in diagnosing congenital heart disease, including chest X-rays, echocardiograms and electrocardiograms or imaging tests. Treatments can be conservative, like medication management, or include surgeries like:
- Aorta repair or replacement
- Heart transplant
- Tetralogy of Fallot surgery
- Valve surgery
Familial Hypertrophic Cardiomyopathy
Familial hypertrophic cardiomyopathy is a common inherited heart condition that can affect people of all ages. This condition can thicken part or all of the heart muscle. In extreme cases, it can even cause sudden death.
The thickening often happens in the interventricular septum –– the wall that separates the left and right ventricles (the two lower chambers of the heart). This can prevent proper blood flow from the heart, so it has to pump harder than it should.
This thickening can also give the left ventricle less room to hold blood, which can raise the pressure inside that chamber. When this happens, you may feel short of breath or experience abnormal heart rhythms.
Genetic testing can help your physician understand your risk of this condition and aid in a diagnosis.
Symptoms
Symptoms of familial hypertrophic cardiomyopathy can present differently for each family member who has it. Your father may experience chest pain, for example, but you may have mild palpitations. Some people don’t have any symptoms.
This difference in symptoms can be dangerous because they can cause you to delay seeking medical help if you don’t attribute it to a possible heart condition. The good news is that getting treatment early can keep it from progressing or causing complications. That’s why it’s important to get your heart checked if you have a family history of hypertrophic cardiomyopathy.
Treatment
Living a healthy life and managing your condition with your health care provider as your guide is the best way to treat it.
Here are the main treatment options for hypertrophic cardiomyopathy:
- Lifestyle changes, such as losing weight and eating a healthy diet.
- Medications to regulate heart function and rhythm, reduce swelling and prevent blood clots.
Surgical and nonsurgical procedures such as implanting devices to treat abnormal heart rhythms, surgery to remove part of the thickened heart muscle, ablation to treat arrhythmia or a heart transplant.
Familial Dilated Cardiomyopathy
Dilated cardiomyopathy is when the heart muscle becomes too thin and weak.
This condition can affect both sides of the heart. As the muscle stretches, the affected chamber gets too big and blood pumps less effectively. This can lead to heart failure, which is when the heart can’t pump enough blood to keep up with your body’s needs.
Symptoms
- Fainting
- Fatigue
- Irregular heartbeat
- Swelling of the legs and abdomen
Treatment
Familial dilated cardiomyopathy needs to be treated to prevent heart failure and early death. Like with Familial hypertrophic cardiomyopathy, treatment mostly includes managing symptoms, preventing the condition from worsening and protecting you from life-threatening symptoms.
Familial Hypercholesterolemia
Familial hypercholesterolemia is an inherited cause of coronary heart disease. If left untreated, you can have a stroke or suffer from a heart attack.
Cholesterol is a fat-like substance in every cell in your body. Your body needs some cholesterol, but too much can accumulate in your body, especially low-density lipoproteins (LDL) — the bad cholesterol. This narrows arteries, either partially or completely blocking blood flow.
If you have familial hypercholesterolemia, your LDL is very high (above 190 milligrams per deciliter (mg/dL)).
If your high cholesterol is caused by genetics, symptoms can begin at a very young age. Some people have a heart attack as early as 20 years old.
Symptoms
- Bumps around the knuckles
- Swollen or painful Achilles tendons
- Yellowish areas around the eyes or a white arc near the colored part of the eye
Treatment
If you have familial hypercholesterolemia, a healthy lifestyle alone probably won’t bring your LDL down. You’ll need to work with your provider to manage it, which may include taking medications.
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