9 Common and Rare Genetic Heart Conditions List: Ultimate Guide

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 tend to 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. Here we will walk through a number of common and rare heart conditions that can run in families, their symptoms and treatment options.

What is a Genetic Heart Condition?

A genetic heart condition, also known as an inherited or congenital heart condition, is a type of cardiovascular disease passed down through families carrying specific genetic mutations. These mutations can affect the heart's structure, function, or electrical system.

Since genetic heart conditions are inherited, family members are often recommended to undergo screening to detect abnormalities early and encourage condition management. Having a proactive approach can prevent complications and improve the quality of life for those at risk.

5 Common Genetic Heart Conditions List

Familial Hypertrophic Cardiomyopathy (HCM)

Familial hypertrophic cardiomyopathy is a commonly 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.

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.

• Chest pressure
• Fainting
• Lightheadedness
• Palpitations
• Shortness of breath

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 (DCM)

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 (FH)

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.

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Arrhythmogenic Right Ventricular Cardiomyopathy is a condition characterized by abnormal heart rhythms and a replacement of the right ventricular muscle with fatty and fibrous tissue.

Symptoms

• Palpitations
• Dizziness or Lightheadedness
• Fainting
• Chest Pain
• Shortness of Breath
• Fatigue
• Swelling of the legs and ankles may occur

Treatment

Managing ARVC focuses on controlling symptoms, preventing arrhythmias, and reducing the risk of sudden cardiac death. Through lifestyle modifications, medication, and/or utilization of devices like a defibrillator, there are a variety of management strategies that can help improve outcomes.

Long QT Syndrome (LQTS)

Long QT Syndrome is a condition that affects the electrical activity of the heart, leading to episodes of fast, chaotic heartbeats.

Symptoms

• Palpitations
• Fainting
• Seizures
• Sudden Cardiac Arrest

Treatment

Managing LQTS focuses on preventing arrhythmias, reducing the risk of sudden cardiac death, and addressing symptoms. With appropriate management, many people with LQTS can lead normal, healthy lives. Regular follow-up with a cardiologist specializing in inherited heart disorders is crucial to monitor the condition, adjust treatments as needed, and ensure the best possible outcomes.

4 Rare Genetic Heart Conditions List

Left Ventricular Noncompaction Cardiomyopathy (LVNC)

Left Ventricular Noncompaction Cardiomyopathy (LVNC) is a condition where the heart muscle, particularly the left ventricle, does not develop properly during embryonic growth, leading to a spongy appearance and potential heart dysfunction.

Symptoms

• Heart Failure Symptoms
• Arrhythmias
• Chest Pain
• Stroke Symptoms
• Sudden Cardiac Arrest

Treatment

Managing LVNC focuses on controlling symptoms, preventing complications, and improving quality of life. This is done through lifestyle modifications, medication offerings, and devices such as a defibrillator. With appropriate management, many people with LVNC can lead relatively normal lives. However, regular follow-up with a cardiologist is crucial to monitor the condition, adjust treatments as needed, and ensure the best possible outcomes.

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a rare, inherited condition that causes abnormal heart rhythms during physical activity or stress due to mutations affecting calcium handling in heart cells.

Symptoms

• Palpitations
• Fainting
• Seizures
• Sudden Cardiac Arrest

Treatment

Managing CPVT can involve beta-blockers to reduce the heart's response to adrenaline and prevent arrhythmias. Lifestyle modifications, including avoiding strenuous physical activity and emotional stress, are essential to reduce the risk of arrhythmias. High-risk individuals or those who have experienced life-threatening arrhythmias may require an implantable cardioverter-defibrillator (ICD) to monitor heart rhythms and deliver corrective shocks if necessary.

With appropriate treatment and regular follow-up with a cardiologist, many individuals with CPVT can lead normal, healthy lives. Family members should also undergo screening and genetic counseling to understand their risk and take preventive measures if needed.

Fabry Disease

Fabry Disease is a lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A, leading to the accumulation of globotriaosylceramide in various organs, including the heart, which can cause hypertrophy and other cardiac issues.

Symptoms

• Pain
• Small, dark red spots on the skin, often in clusters around the belly button, groin, and upper thighs.
• Reduced ability to sweat.
• Gastrointestinal issues
• Cloudiness in the corneas, detectable by an eye exam but not affecting vision.
• Hearing loss
• Kidney dysfunction
• Enlargement of the heart (cardiomegaly), arrhythmias, and an increased risk of heart attack and stroke.
• Dizziness, vertigo, and stroke-like episodes.

Treatment

Treatment for Fabry disease focuses on managing symptoms and preventing complications. Enzyme replacement therapy (ERT) is the primary treatment. Additional treatments include medications to manage pain, control blood pressure, and reduce proteinuria, as well as interventions to address gastrointestinal, cardiac, and other complications.

Regular follow-up with your healthcare team is essential for optimal management of Fabry disease. Early diagnosis and treatment can improve quality of life and slow disease progression, but the prognosis varies depending on the severity of organ involvement and response to therapy. Family members should undergo genetic counseling and testing to determine their risk and guide management.

Familial Amyloid Cardiomyopathy (FAC)

Familial Amyloid Cardiomyopathy (FAC) is a condition where abnormal protein deposits accumulate in the heart tissue, leading to heart stiffness and dysfunction.

Symptoms

• Heart Failure Symptoms: Shortness of breath, fatigue, swelling of the legs and ankles, and difficulty exercising.
• Arrhythmias
• Enlargement of the heart
• Numbness, tingling, or pain in the hands and feet.

Treatment

Treatment for FAC focuses on managing symptoms, slowing disease progression, and reducing amyloid deposits. This can be done through medications, lifestyle changes, and supportive care. Early diagnosis and intervention can help improve outcomes by preventing or delaying complications such as heart failure or severe organ dysfunction.

Diagnosing a Genetic Heart Condition

Diagnosing a genetic heart condition usually means a comprehensive evaluation using various medical tools and techniques. This process aims to identify the specific heart disorder, understand its genetic basis, and develop an appropriate management plan. Here’s an overview of some steps involved in diagnosing genetic heart conditions:

• Genetic testing to identify specific mutations.
• Imaging techniques like echocardiography and MRI to assess heart structure and function.
• Electrocardiogram (ECG) to detect abnormal heart rhythms.
• Echocardiogram uses sound waves to show how blood flows through the heart and heart valves
• Family history evaluation.

Expert Care With Heart

If you or a loved one would benefit from our world-class cardiovascular care, reach out to our team for a consultation today. From pioneering new procedures to advancing care for complex conditions, our expertise revolves around starting and maintaining your heart health.