Inherited Heart Diseases: Types, Symptoms, Causes, and Management

A comprehensive guide to the most common inherited heart diseases, their symptoms, causes, diagnosis, and treatment options.

By Medha deb

Created on Sep 25, 2025

A comprehensive guide to the most common inherited heart diseases, their symptoms, causes, diagnosis, and treatment options.

Inherited Heart Diseases: What You Need to Know

Inherited heart diseases are disorders caused by changes in genes passed down from your parents. These conditions can affect how your heart functions, sometimes from birth and sometimes later in life. Understanding these diseases, their symptoms, diagnosis, and treatment options can help you and your family manage risks and stay healthy.

Types of Inherited Heart Diseases

Several types of inherited heart diseases can impact individuals and families. These include:

Cardiomyopathies: Problems with the heart muscle itself
Arrhythmias: Abnormalities in the heart’s rhythm
Marfan syndrome: An inherited connective tissue disorder
Familial hypercholesterolemia: Extremely high cholesterol levels due to genetic mutations

Table: Overview of Major Inherited Heart Diseases

Disease	Primary Effect	Symptoms	Genetic Risk
Hypertrophic Cardiomyopathy (HCM)	Thickened heart muscle	Chest pain, breathlessness, palpitations	Often autosomal dominant
Dilated Cardiomyopathy (DCM)	Enlarged, weakened heart chambers	Fatigue, swelling, irregular heartbeat	Typically autosomal dominant
Arrhythmias (e.g. LQTS, CPVT)	Abnormal heartbeat	Fainting, palpitations, sudden death	Varied inheritance patterns
Marfan Syndrome	Weak connective tissues	Long limbs, heart/aorta problems	Usually autosomal dominant
Familial Hypercholesterolemia	Very high cholesterol	Fatty deposits, early heart attack	Autosomal dominant

1. Cardiomyopathies

Cardiomyopathies affect the heart muscle, making it harder for the heart to pump blood to the rest of the body. Inherited forms often result from genetic mutations passed from parents to children.

Types of Cardiomyopathies

Hypertrophic Cardiomyopathy (HCM)
Thickening of the heart’s left ventricle wall, especially the septum. Raises chamber pressure and can cause symptoms or go unnoticed for years. Risk of sudden cardiac death exists for some individuals.
Dilated Cardiomyopathy (DCM)
Left ventricle stretches and weakens. Can result in heart failure as blood isn’t pumped efficiently.
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
Fat or scar tissue replaces heart muscle cells, leading to dangerous arrhythmias and possible sudden death.
Restrictive Cardiomyopathy
Abnormal substances (like iron, amyloid proteins) build up, causing stiffening and impaired function of the heart muscle. Associated disorders include cardiac amyloidosis.

Common Symptoms of Cardiomyopathies

Chest pain or pressure
Fatigue
Lightheadedness/fainting
Palpitations or irregular heartbeat
Shortness of breath
Swelling in legs and abdomen (with failing heart function)

Treatment Options for Cardiomyopathies

Lifestyle changes (e.g., healthy diet, weight management)
Medications (to improve heart function, control rhythm, prevent blood clots)
Surgical devices (defibrillators or pacemakers for rhythm control)
Procedures (removal of thickened muscle, catheter ablation for arrhythmias)
Heart transplant (in severe cases)

2. Inherited Arrhythmias

Inherited arrhythmias are abnormal heart rhythms caused by genetic defects. These conditions can be life-threatening due to the risk of cardiac arrest or sudden death.

Major Types of Inherited Arrhythmias

Long QT Syndrome (LQTS) / Short QT Syndrome (SQTS)
The intervals between heartbeats are abnormally long or short, raising the risk of irregular rhythms and fainting.
Brugada Syndrome
Affects sodium channels in the heart. Can result in dangerous arrhythmias and cardiac arrest.
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Triggers rapid, abnormal rhythms in the lower heart chambers during exercise or stress.
Progressive Cardiac Conduction Defect (PCCD)
The heart’s electrical system fails progressively, leading to heart block.
Familial Atrial Fibrillation (AFib)
Genetically driven irregular heartbeats in the upper chambers.

Symptoms of Arrhythmias

Palpitations (heart fluttering)
Fainting or near fainting (syncope)
Sudden cardiac arrest
Chest discomfort

Treatment of Arrhythmias

Medications (to control rhythm or prevent arrhythmias)
Device implants (pacemakers, implantable cardioverter-defibrillators)
Procedures (catheter ablation)
Lifestyle modifications (avoid triggers)

3. Marfan Syndrome

Marfan syndrome is an inherited disorder affecting the connective tissues throughout the body, including the heart, blood vessels, bones, and joints.

Impacts on the Heart

Stretching and weakening of the aorta (main heart artery), which may cause it to widen (aortic aneurysm)
Heart valve damage (regurgitation or leaking)

Symptoms in Marfan Syndrome

Unusually long limbs and fingers (Arachnodactyly)
Flexible joints
Curvature of the spine (scoliosis)
Tall, thin stature
Cardiac symptoms (palpitations, chest pain)

Management of Marfan Syndrome

Close cardiac monitoring (regular imaging of aorta)
Medication to reduce stress on the aorta
Surgical intervention for aorta repair if needed
Multidisciplinary management: includes orthopedics, ophthalmology (eye care), cardiology

4. Familial Hypercholesterolemia (FH)

Familial hypercholesterolemia (FH) is a genetic disorder resulting in very high levels of LDL (“bad”) cholesterol from an early age. This condition dramatically increases risk for coronary artery disease, heart attack, and stroke, often before age 40.

Symptoms of FH

Cholesterol deposits under skin (xanthomas): often around knuckles, tendons, or under eyelids
Blood cholesterol readings above 190 mg/dL
Early heart attacks or strokes (sometimes as young as age 20)
Yellowish ring around iris (corneal arcus)

Treatment for FH

Medications (statins, ezetimibe, PCSK9 inhibitors)
Lifestyle changes (diet, physical activity)
Sometimes apheresis (a procedure to remove LDL from blood)
Early detection and family screening are critical

Causes of Inherited Heart Diseases

The root cause of inherited heart diseases is a genetic mutation. Each human carries between 20,000 – 25,000 genes, and a single mutation can affect how structures in the heart develop and function.

If a parent has a genetic heart condition, there is a 50% chance each child will inherit the faulty gene.
Mutations can affect heart muscle strength, structure of blood vessels, cholesterol metabolism, or the heart’s electrical system.
Some conditions, such as Marfan syndrome, result from defects in connective tissue proteins.

Recognizing Symptoms

Symptoms may be subtle, variable, or completely absent, making annual heart checkups and family history reviews essential for at-risk individuals.

Chest pain
Fatigue
Irregular heartbeat or palpitations
Lightheadedness or fainting
Sudden cardiac death (including sudden infant death syndrome)
Shortness of breath
Physical signs (unusual swelling, skin deposits, skeletal features)

Diagnosis of Inherited Heart Diseases

Early diagnosis is crucial to reduce risk and guide management. The process typically involves:

Detailed family medical history assessment
Physical examination and symptom review
Genetic testing (identifying specific mutations)
Cardiac imaging (echocardiogram, CT scan, MRI)
Electrocardiogram (EKG/ECG) to assess heart rhythm
Cardiac catheterization (if vascular abnormalities are suspected)
Stress testing for functional assessment

Treatment and Management Strategies

Appropriate management can improve quality of life and survival. Treatment is often individualized and may include:

Lifestyle modifications: Healthy diet, exercise, avoiding tobacco/alcohol
Medications: Cholesterol-lowering drugs, anti-arrhythmics, blood pressure management
Implanted devices: Pacemakers, defibrillators for arrhythmia control
Surgical interventions: Valve repairs, aorta repair, muscle removals
Regular surveillance: Heart monitoring and follow-ups
Genetic counseling: Family planning and risk assessment

Prevention and Family Screening

If you have a family history of inherited heart disease, preventive strategies and family screening can be life-saving:

Early genetic testing for at-risk relatives
Routine health screenings even in absence of symptoms
Lifestyle interventions for potential lifestyle-related risk factors
Open communication with family members about known inherited conditions

Frequently Asked Questions (FAQs)

What are the most common inherited heart diseases?

Cardiomyopathies—especially hypertrophic and dilated types—arrhythmias like long QT syndrome, Marfan syndrome, and familial hypercholesterolemia are among the most common.

Can inherited heart diseases skip generations?

Most inherited heart conditions follow autosomal dominant rules—so each child of an affected parent has a 50% risk of inheriting the faulty gene. Sometimes, variable expression means symptoms may be mild or absent in some generations.

How are inherited heart diseases diagnosed?

Diagnosis involves a combination of family history review, symptom analysis, physical exams, genetic tests, cardiac imaging (echo, MRI, CT), and electrocardiograms.

Are there cures for inherited heart diseases?

Most conditions cannot be “cured,” but symptoms and risks can be managed with medications, device implants, surgeries, and lifestyle modifications. Early detection and intervention are key.

Should family members of affected persons be screened?

Yes. Family screening, especially genetic testing and heart imaging, can help find other affected members early and prevent complications.

Additional Resources

Genetic counseling centers
National organizations for heart disease support
Regular follow-up with a cardiologist specializing in inherited conditions

References

Author

medha deb

Medha Deb is an editor with a master's degree in Applied Linguistics from the University of Hyderabad. She believes that her qualification has helped her develop a deep understanding of language and its application in various contexts.

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