Inherited heart diseases

Some heart conditions, like certain arrhythmias or valve disease, run in families. They are rare but often complex and raise your risk of life-threatening complications. The biggest concern is sudden cardiac arrest. This medical emergency occurs when the heart unexpectedly stops working. 

Having a gene mutation responsible for these conditions raises your risk of experiencing one. But not everyone with the mutation gets inherited heart disease. If you carry the genes or are showing symptoms, you need specialized care. And it’s available right in your community at Advocate Heart Institute.

We offer locations throughout Chicago and central Illinois. Our team includes genetic experts and heart doctors whose deep experience helps people maximize their health. If you are at risk for genetic heart conditions, we perform regular monitoring. People with an inherited heart disease diagnosis have access to leading therapies.

Types of hereditary heart diseases

There are many types of genetic heart conditions. They include:

• Arrhythmias: Certain types of irregular heart rhythms run in families, including Brugada syndrome and short QT syndrome. Learn more about inherited arrhythmias.

• Cardiac amyloidosis: This condition causes a build-up of abnormal proteins in the heart. These build-ups interfere with the heart’s pumping action. Find out more about cardiac amyloidosis.

• Coronary artery disease (CAD): With CAD, deposits of a fatty substance build up in blood vessels supplying the heart. Coronary artery disease is common and sometimes runs in families.

• Familial cardiomyopathies: This group of conditions affects muscle tissue and the heart’s pumping abilities. There are many cardiomyopathy types, including dilated and hypertrophic cardiomyopathy.

• Marfan syndrome: This disorder affects connective tissue, which helps secure organs and other tissue in place. Its effects on the heart include enlarged blood vessels, valve regurgitation and more.

• Rare syndromes: There are many types of rare inherited heart syndromes. They include dextrocardia with situs inversus in which the heart is not in its natural position.

Symptoms of hereditary heart diseases

Some inherited heart conditions, like arrhythmias, do not cause symptoms in their early stages. If you experience symptoms, they may include:

• Chest pain
• Palpitations
• Syncope
• Dizzy spells
• Shortness of breath
• Unusual tiredness after light physical activity

Causes of hereditary heart diseases

Genetic heart conditions occur due to gene mutations. These mutations have the potential to affect heart structure and functioning. The best way to learn how your family medical history may affect your future heart health is through genetic testing.

Diagnosing hereditary heart diseases

We offer a broad range of tests for inherited heart disease. We gather your medical history and perform a thorough exam to determine which options are right for you. Find out more about heart and vascular testing and diagnosis.

Your assessment may include: 

• Cardiac catheterization: This procedure uses thin tubes (catheters) with sophisticated tools at the tip to evaluate heart structures and functioning. We insert the tube through a small incision in the groin and advance the catheter until it reaches the heart. Learn more about cardiac catheterization.
• CT scan or MRI: These imaging studies provide 3D images of the heart, valves and blood flow.
• Echocardiography: This test creates a two-dimensional picture of heart muscles, valves and other structures using soundwaves.
• Electrocardiogram (EKG): This test records the heart’s electrical activity and may show signs of damage.
• Genetic testing: If inherited heart disease runs in your family, testing can show whether you carry genes that cause them.
• Stress test: Doctors evaluate the heart functioning while you perform light physical activity, like walking on a treadmill.

Treating hereditary heart diseases

If treatment is necessary, our team coordinates the options that are right for you. We carefully monitor your response giving you the best chances for good results. 

Genetic heart disease care may include:

Medications

Drugs may lower your risk for some conditions or prevent symptoms from getting worse. We may recommend:

• Angiotensin-converting enzyme(ACE) inhibitors and diuretics to improve heart functioning
• Anti-arrhythmic medications to control arrhythmias
• Blood pressure-lowering medications
• Blood thinners to prevent unnecessary blood clots
• Cholesterol-lowering drugs

Lifestyle changes

Adopting healthy habits can help your heart work efficiently so that it’s less likely. Preventive care habits include:

• Quitting smoking 

• Eating a healthy diet 

• Staying physically active

• Reducing stress levels through relaxation and other techniques

Surgery and procedures

For valve and structural heart disease, the best treatment may be surgery. With other conditions, a procedure can reduce the heart’s workload. Cardiovascular surgery and procedures for inherited heart disease include: 

• Angioplasty and stenting: This procedure uses long thin tubes (catheters) to access problem areas. A special balloon at the tip pushes atherosclerosis plaques out of the way. A mesh device (stent) keeps the widened blood vessel open. 

• Atherectomy: Our experts use catheters to access narrowed arteries. Instruments at the tip enable us to shave off or use other techniques to remove plaque buildup.
• Cardiac ablation: Focused beams of warm energy destroy abnormal tissue responsible for arrhythmias.
• Implantable cardioverter-defibrillator (ICD): An ICD is a small implantable device that senses and treats abnormal rhythms. 
• Pacemaker: This small electronic device generates electrical signals that maintain a healthy rhythm.
• Valve repair or replacement procedures: Doctors often perform these procedures using catheters. Sophisticated instruments at the tip enable them to fix leaky or stiff valves. In some cases, they insert a replacement valve.

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