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Treating Hypertrophic Cardiomyopathy

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Family History of Cardiomyopathy: Know Your Risk

Medically Reviewed By Abby Sikorcin, MPAS, PA-C

Cardiomyopathy often doesn’t cause symptoms until it leads to severe complications. That’s why it’s important to learn whether this condition runs in your family and consider genetic testing.


Cardiomyopathy is a type of structural heart disease. The heart muscle enlarges and becomes thicker and stiffer than usual. These changes prevent it from pumping enough blood out to the body.

Cardiomyopathy and the diseases that cause it can run in families, including:

  • Inherited cardiomyopathy passes from parents to their children. The inherited gene changes cause problems with the heart as it develops in the womb.
  • Acquired cardiomyopathy happens when a disease damages the heart. Some diseases that cause cardiomyopathy, like Duchenne muscular dystrophy and sarcoidosis, are inherited.

Symptoms of the inherited types of cardiomyopathy can start in the first few months of life, but they may not start until age 40 or later.

As the heart gets weaker and pumps less oxygen-rich blood, it may cause symptoms such as: 

  • chest pain
  • dizziness
  • fainting
  • fatigue
  • irregular heart rhythm (arrhythmia)
  • shortness of breath
  • swelling in the legs and feet

Sometimes, cardiomyopathy doesn’t cause any symptoms until heart failure or cardiac arrest happens suddenly.

Consider learning whether anyone in your family died suddenly from cardiomyopathy. You can also get yourself and your children tested to help prevent severe complications.

How cardiomyopathy runs in families

Mutations in genes can cause inherited types of cardiomyopathy. Genes hold the codes for producing proteins that help the heart beat normally. 

Mutated genes pass from parents to their children in different ways:

  • Autosomal dominant: You only need to inherit a mutated gene from one parent to get the disease. Each child of someone who carries the gene has a 50% Trusted Source American Heart Association Highly respected national organization Go to source chance of developing cardiomyopathy.
  • Autosomal recessive: You need two copies of the gene, one from each parent, to get the disease.
  • X-linked: The gene mutation is on the X chromosome. People who were assigned female at birth have two copies of the X chromosome. The other copy does not have the mutation. A female may not typically express the cardiomyopathy trait, as they are not symptomatic if their other X chromosome is normal. Carrier females may be at risk of passing on the trait to male offspring. Because people assigned male at birth only have one X chromosome, if they carry the gene, this person will develop cardiomyopathy.

Types of inherited cardiomyopathies

Different types of cardiomyopathy may run in families: 

Hypertrophic cardiomyopathy: This condition affects 1 out of 500 people Trusted Source American Heart Association Highly respected national organization Go to source . The left ventricle, especially the LV septum (center wall between right and left bottom chambers), is thicker than usual. This can block blood from flowing out of the heart.

As a result, the heart can’t pump out enough blood. This type of cardiomyopathy is very dangerous because it can cause sudden death without any warning symptoms.

Familial dilated cardiomyopathy: The heart muscle is thinner and weaker than usual, and the chamber where blood comes in and out is enlarged (dilated). These changes prevent the heart from pumping as much blood as usual. 

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): This type of cardiomyopathy affects the right ventricle. It can cause a life threatening arrhythmia called ventricular tachycardia.

Left ventricular noncompaction cardiomyopathy (LVNC): The left ventricle does not form correctly in the womb and has LV hypertrabeculation. This means there’s excessive sponge-like tissue in the left ventricle.

This may increase the risk of life threatening arrhythmias and heart failure.

Gender and cardiomyopathy

Duchenne muscular dystrophy and Becker muscular dystrophy are inherited in an X-linked pattern. These conditions almost always Trusted Source American Heart Association Highly respected national organization Go to source  cause cardiomyopathy in children who were assigned male at birth. The gene mutation is on the X chromosome.

Family history and cardiomyopathy risk

You’re more likely to be diagnosed with cardiomyopathy if one or more of your family members have this condition. The risk of cardiomyopathy is up to 400 times higher Trusted Source AHA/ASA Journals Peer reviewed journal Go to source  when it runs in families. 

Your exact risk depends on factors like your relationship to the person with cardiomyopathy and how many of your family members have died from the condition.

For instance:

  • If a second-degree relative like an aunt or uncle died from cardiomyopathy, you are 6 times more Trusted Source AHA/ASA Journals Peer reviewed journal Go to source  likely to be diagnosed with the condition.
  • If a first-degree relative like a parent, brother, or sister died young from cardiomyopathy, your risk of being diagnosed before age 50 is 30 times higher.
  • If a close relative died before age 35, your risk increases by 100 times. 

Genes linked to cardiomyopathy

Mutations in dozens of genes are linked to cardiomyopathy, including these:

  • Myosin binding protein C3 (MYBPC3) provides the instructions for producing the MyBP-C protein, which helps the heart muscle contract.
  • Myosin heavy chain 7 (MYH7) carries the directions for another protein that helps the heart muscle contract. MYH7 and MYBPC3 together account for more than half Trusted Source AHA/ASA Journals Peer reviewed journal Go to source  of hypertrophic cardiomyopathy cases.
  • Troponin T2 (TNNT2) and troponin I3 (TNNI3) hold the instructions for proteins that help the heart muscle contract.
  • Titin (TTN) affects the heart muscles and the chemical signals that help the heart beat. About 1 out of 5 people with familial dilated cardiomyopathy have a mutation in the TTN gene. 

Screening for cardiomyopathy

Complications like arrhythmia or heart failure can happen without warning. Cardiomyopathy is the leading cause Trusted Source AHA/ASA Journals Peer reviewed journal Go to source  of sudden heart-related death in people under age 50.

Getting diagnosed and treated early can protect you from severe complications. If cardiomyopathy runs in your family or some of your relatives died suddenly from a heart-related condition before age 50, consider talking with your doctor about genetic testing.

The American College of Cardiology and the American Heart Association recommends screening first-degree relatives of people with hypertrophic cardiomyopathy starting at age 12. Children who play competitive sports or whose relatives died suddenly from a heart problem should get screened sooner.

A blood test can show whether you have any of the gene mutations linked to cardiomyopathy. A genetic counselor can help you understand your test results and what they mean for you and your family.

However, up to half Trusted Source AHA/ASA Journals Peer reviewed journal Go to source  of families with a history of cardiomyopathy don’t test positive for any of the genes linked to this disease.

Getting a diagnosis

If cardiomyopathy runs in your family, your doctor might recommend that you or your child get screened once every few years with an echocardiogram. This imaging test uses sound waves to show how well your heart is working and if there are any problems with its structure.

Other tests doctors may use to diagnose cardiomyopathy include:

  • Cardiac catheterization uses a contrast dye and X-rays to see how well blood flows through the heart’s arteries.
  • Computed tomography (CT) and (MRI) scans are imaging tests that create detailed pictures of the heart.
  • Electrocardiogram (ECG, EKG) records the electrical activity in the heart.
  • Holter monitor tracks your heart’s activity while you wear it for 1–2 days.

Preventing cardiomyopathy

You can consider the following recommendations to avoid complications of cardiomyopathy:

  • Avoid smoking if you smoke.
  • Eat a heart healthy diet with fresh fruits and vegetables, whole grains, and lean protein sources like fish and skinless chicken breasts.
  • Maintain the weight your doctor recommends for your height.
  • Manage conditions like high blood pressure and diabetes
  • Stay active by doing light to moderate exercises like walking.

Medications can help lower blood pressure, treat an arrhythmia, and manage other symptoms of cardiomyopathy.

Your doctor can recommend a treatment plan based on the type and severity of your cardiomyopathy. People with severe symptoms can be started on medication to improve the outflow of blood, including beta blockers and non-dhp calcium channel blockers.

Your doctor can also explain if you may benefit from septal reduction therapy, either surgical septal myectomy or alcoholic septal ablation.

People with advanced stages of heart failure may be treated with pillars of therapy to prevent disease progression, including:

  • angiotensin-converting enzyme inhibitors (ACEi)
  • angiotensin 2 receptor blockers (ARB)
  • angiotensin receptor/neprilysin inhibitor (ARNI)
  • magnetic resonance angiography (MRA)
  • beta blockers
  • sodium-glucose transport protein 2 therapies (SGLT2)

Some people may need a device like a pacemaker or implantable defibrillator to manage their heart rhythm. It’s important to stay on the treatment plan your doctor prescribes to prevent serious complications.


Cardiomyopathy is a heart condition that runs in families. It prevents the heart from pumping enough blood out to the body.

Because cardiomyopathy can be serious and may not cause symptoms, it’s important to know your family history. Learn whether any of your relatives died suddenly before age 50 from a heart problem.

Genetic testing can show whether you or your child carries a gene linked to cardiomyopathy. If so, regular monitoring and treatment can prevent life threatening complications.

Was this helpful?
  1. Familial dilated cardiomyopathy. (2017). 
  2. Hypertrophic cardiomyopathy (HCM). (2022).
  3. Lafreniere-Roula M, et al. (2019). Family screening for hypertrophic cardiomyopathy: Is it time to change practice guidelines?
  4. Marian AJ, et al. (2017). Hypertrophic cardiomyopathy.
  5. Overview of inheritance. (n.d.). 
  6. Ranthe MF, et al. (2015). Risk of cardiomyopathy in younger persons with a family history of death from cardiomyopathy.

Medical Reviewer: Abby Sikorcin, MPAS, PA-C
Last Review Date: 2023 Nov 15
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