6 Types of Inherited Heart Disease to Be Aware Of

Your heart muscle pumps blood out to your body. If you have cardiomyopathy, the heart muscle is dysfunctional or damaged. It may be thicker than normal or thin and dilated to the point where it can’t effectively pump. Cardiomyopathy can cause irregular heartbeats, a backup of blood, and eventually heart failure.

Common symptoms of cardiomyopathy include:

• shortness of breath with activity
• heart palpitations
• dizziness or lightheadedness
• fainting
• swelling in your feet, ankles, legs, and belly

For diagnosis, your doctor will ask about your family history of heart disease, perform a physical exam, and do an echocardiogram. Depending on the scenario, these tests may also be used to diagnose cardiomyopathy:

• electrocardiogram (ECG)
• exercise tests
• blood tests
• genetic tests
• heart magnetic resonance imaging (MRI)
• heart biopsy

There are different types of cardiomyopathy. Some are caused by a condition like heart disease, a heart attack, or an infection. Other types are inherited, including the following:

Hypertrophic cardiomyopathy (HCM)

HCM enlarges part of the wall of the heart’s left ventricle. It often affects an area called the septum. The septum separates the left and right ventricles that pump blood out to your body.

Most people with HCM have the obstructive type, where the thickened septum impairs blood flow out of the heart. In nonobstructive HCM the septum is thicker, but it doesn’t impair blood flow.

Dilated cardiomyopathy (DCM)

In DCM the left ventricle dilates, which means it gets wider. It stretches so much that the heart can’t pump blood efficiently. In addition to genetics, DCM can also be caused by:

• other health conditions, such as heart disease, heart attack, high blood pressure, diabetes, thyroid disease, HIV, and viral hepatitis
• infections that lead to an inflamed heart muscle
• poor diet and alcohol use
• health complications in the last month of pregnancy or first 5 months postpartum
• certain medications, including cancer drugs doxorubicin and daunorubicin
• drug use, including cocaine or methamphetamines

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

In this rare type of cardiomyopathy, fat or scar tissue replaces parts of the heart muscle. The scarring disrupts electrical signals that control the heartbeat, which can cause an irregular heart rhythm and sudden cardiac death.

Restrictive cardiomyopathy

This type of cardiomyopathy can be due to scar tissue, but also encompasses the infiltrative types of cardiomyopathy, some of which can be inherited. In these forms, abnormal substances like iron or proteins accumulate in the heart muscle, causing damage.

Over time, restrictive cardiomyopathy can lead to heart failure or arrhythmia.

An arrhythmia is a heartbeat that differs from the typical lub-dub pattern. This is a result of a problem with the heart’s electrical signals. Depending on the type of arrhythmia you have, your heart might beat too fast, too slowly, or in an unusual rhythm.

Symptoms of an arrhythmia include:

• palpitations
• dizziness or fainting
• chest pain
• shortness of breath
• tiredness
• weakness

A physical exam, health history, an ECG are typically used to determine an arrhythmia diagnosis. Other testing may also be involved, such as:

• blood tests
• heart rhythm monitor
• electrophysiology study
• genetic tests
• heart MRI

A few types of arrhythmias are inherited.

Long QT syndrome (LQTS)

The QT refers to two electrical waves, Q and T, that are measured on an ECG. If you have long QT syndrome, the time between these two waves lasts longer than usual. This can cause a dangerously fast rhythm in the ventricles that can lead to cardiac arrest.

Short QT syndrome (SQTS)

Short QT syndrome is a very serious and rare type of arrhythmia. In this case, the time between the Q and T waves is shorter than usual. SQTS increases the risk of cardiac arrest.

Brugada syndrome

Brugada syndrome is a rare but very serious type of arrhythmia that affects a cellular channel involved in the electrical signals in the heart. Without treatment, it can lead to arrhythmias and cardiac arrest.

Catecholaminergic polymorphic ventricular tachycardia (CPVT)

If you have CPVT, exercise or stress makes the heart go into such a fast rhythm that it doesn’t have time to refill in between beats. It happens because of too much calcium in the heart. Untreated CPVT can lead to cardiac arrest.

Progressive cardiac conduction defect (PCCD)

In this rare condition, the heart’s conduction system does not function appropriately and can lead to heart block. PCCD can make the heart beat too slowly or too quickly.

Familial atrial fibrillation

In familial atrial fibrillation, abnormal electrical signals in the top chambers of the heart are fast and irregular and can cause rapid and irregular heart rate. This can increase the risk of stroke.

Atrial fibrillation is common and not always hereditary, but can be hereditary in the case of familial atrial fibrillation.

Cardiac amyloidosis happens when an abnormal protein called amyloid builds up in the heart. The protein stiffens and thickens the heart to the point where it can’t fully fill with blood.

The only hereditary type of amyloidosis is known as hereditary transthyretin-related amyloidosis (hATTR), which is caused by a specific type of amyloid protein called transthyretin that the liver makes.

Symptoms of cardiac amyloidosis include:

• shortness of breath with activity
• swelling in the ankles, legs, and belly
• tiredness
• weakness

Some people with amyloidosis have deposits elsewhere, such as the nerves, which can lead to numbness in the hands and feet, or a history of carpal tunnel syndrome.

Along with taking a family history and performing a physical exam, your doctor may use these tests to diagnose cardiac amyloidosis:

• ECG
• blood tests
• urine tests
• genetic testing
• pyrophosphate scan, a type of nuclear medicine test
• heart MRI
• heart biopsy

This inherited condition affects the connective tissues that support your bones and organs. Connective tissues in your heart, blood vessels, bones, and joints stretch too much and become weaker.

Marfan syndrome can widen the aorta, the main blood vessel that carries blood from the heart to the rest of your body. It also can damage valves in the heart.

People with Marfan syndrome are often tall and lean, with longer than usual arms, legs, fingers, and toes. They may also have a curved spine as well as problems with the lens of the eye.

Symptoms of Marfan syndrome include:

• skipped heartbeats
• shortness of breath
• headache
• belly pain

To diagnose Marfan syndrome, your doctor will ask about your personal and family medical history and examine you. These tests also help diagnose Marfan syndrome:

• computed tomography (CT) scan of the chest
• MRI of the chest
• echocardiogram
• genetic tests

Familial hypercholesterolemia is an inherited form of very high cholesterol that affects about 1 in 250 people. A gene mutation makes it harder for your liver to remove LDL cholesterol (the “bad” type) from your body. People with this condition have very high LDL cholesterol ­— above 190 mg/dL.

LDL this high can increase your risk for coronary artery disease or a heart attack. You may not have any symptoms. Often, familial hypercholesterolemia is found during a routine blood test.

If extra cholesterol builds up in your body, it can cause symptoms such as:

• bumps around your knees, knuckles, or elbows
• swelling or pain in your Achilles tendon
• yellow around your eyes or a white half-moon shape outside of your cornea

Tests for familial hypercholesterolemia include:

• blood tests to check levels of cholesterol and fats called triglycerides
• genetic tests

Cardiac tumors are often not hereditary, but a few types are.

Carney complex

A rare hereditary condition known as Carney complex can cause cardiac tumors called myxomas. Cardiac myxomas can obstruct blood flow. This can lead to symptoms such as:

• palpitations
• diastolic heart murmurs
• a distinct sound related to a heart tumor, known as “tumor plop”

Left untreated, cardiac myxomas can lead serious, life threatening complications such as:

• heart failure
• stroke
• valvular obstruction

Genetic testing can confirm if you’re at risk for developing cardiac myxomas related to Carney complex.

Tuberous sclerosis

Tuberous sclerosis (TSC) is another type of condition that causes cardiac tumors known as rhabdomyomas. Because TSC affects the central nervous system, it can lead to symptoms such as:

• seizures
• cognitive disabilities
• behavioral issues
• skin abnormalities
• kidney disease

Though the severity of symptoms can range from mild to severe.

Most people are diagnosed with TSC early on, in the first year of their lives, through a combination of a physical exam and a brain CT or MRI. However more subtle signs and symptoms can leave TSC unrecognized or misdiagnosed for years.

Gorlin syndrome

A rare condition called Gorlin syndrome can cause cardiac fibromas. These fibromas are typically detected at birth or shortly after.

For some, these cardiac fibromas can be asymptomatic. For others, these fibromas can or lead to arrhythmias or obstruct blood flow.

Genetic testing can be performed to diagnose Gorlin syndrome. From there, an echocardiogram can be used to check for cardiac fibromas.

If someone in your family has been diagnosed with an inherited heart disease, talk with your primary care doctor or a cardiologist about your risk.

Your physician might recommend seeing a genetic counselor. Depending on your family history and test results, the counselor may recommend genetic testing.

It’s important to catch inherited heart disease early. Starting on a treatment, if you need it, can help protect your heart and your overall health moving forward.