What is Familial Hypertrophic Cardiomyopathy?

Familial Hypertrophic Cardiomyopathy is a heart condition that runs in families and affects the heart muscle. It is caused by changes in certain genes that control heart muscle growth. This can lead to the heart muscle becoming thicker than normal, making it harder for the heart to pump blood effectively. Understanding the genetic link is essential for managing this condition in families. By identifying affected individuals early, proper monitoring and lifestyle modifications can help reduce the risk of complications.

What Are the Symptoms of Familial Hypertrophic Cardiomyopathy

Familial Hypertrophic Cardiomyopathy may cause symptoms such as chest pain, shortness of breath, fatigue, dizziness, and heart palpitations. Some people may experience fainting spells or sudden cardiac arrest. It is important to seek medical attention if you notice any of these symptoms to get proper diagnosis and treatment. Early detection and management are key to living a healthy life with this condition.

Chest pain or discomfort, especially during physical activity or exertion, is a common symptom of Familial Hypertrophic Cardiomyopathy.
Feeling lightheaded or dizzy, especially when standing up quickly, can be a sign of Familial Hypertrophic Cardiomyopathy.
Shortness of breath, particularly during exercise or when lying flat, may indicate Familial Hypertrophic Cardiomyopathy.
Fatigue or feeling unusually tired, even with normal daily activities, could be a symptom of Familial Hypertrophic Cardiomyopathy.
Heart palpitations or a sensation of rapid, fluttering, or pounding heartbeat may occur in individuals with Familial Hypertrophic Card

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Causes of Familial Hypertrophic Cardiomyopathy

These mutations are usually inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from a parent to develop the condition.

Familial Hypertrophic Cardiomyopathy can be caused by genetic mutations in genes that regulate the structure and function of the heart muscle.
In some cases, Familial Hypertrophic Cardiomyopathy may be inherited in an autosomal dominant pattern, meaning that a person only needs one copy of the mutated gene to develop the condition.
Certain environmental factors, such as high blood pressure or excessive alcohol consumption, can contribute to the development of Familial Hypertrophic Cardiomyopathy.
Rarely, Familial Hypertrophic Cardiomyopathy can be caused by spontaneous mutations in genes that are not inherited from a parent.
Individuals with a family history of Familial Hypertrophic Cardiomyopathy

Types Of Familial Hypertrophic Cardiomyopathy

Familial Hypertrophic Cardiomyopathy can be categorised into several types based on genetic mutations. These include MYH7-related, MYBPC3-related, and TNNT2-related types, among others. Each type is characterised by specific gene mutations that lead to the thickening of the heart muscle. Understanding the different types is crucial for the proper diagnosis and management of this inherited heart condition.

Classic Familial Hypertrophic Cardiomyopathy (FHC): This is the most common type of FHC characterised by thickening of the heart muscle, leading to impaired heart function and an increased risk of arrhythmias and sudden cardiac death.
Apical Hypertrophic Cardiomyopathy: In this type of FHC, the thickening of the heart muscle predominantly affects the apex of the heart, which can sometimes mimic other cardiac conditions in imaging studies.
Symmetric Hypertrophic Cardiomyopathy: Symmetric FHC involves a uniform thickening of the heart muscle throughout the left ventricle, often leading to symptoms such as chest pain, shortness of breath, and fatigue.

Risk Factors

Risk factors for Familial Hypertrophic Cardiomyopathy include having a family history of the condition, certain genetic mutations, high blood pressure, obesity, and advanced age. Other factors like excessive alcohol consumption and certain medications can also increase the risk of developing the condition. Regular monitoring and lifestyle modifications are important in managing these risk factors.

Specific genetic mutations, such as those in the MYH7 or MYBPC3 genes, can predispose individuals to developing Familial Hypertrophic Cardiomyopathy.
Age plays a role, as symptoms of Familial Hypertrophic Cardiomyopathy often manifest during adolescence or young adulthood.
Hypertension, or high blood pressure, can exacerbate the effects of Familial Hypertrophic Cardiomyopathy and increase the risk of complications.

Certain lifestyle factors, like excessive alcohol consumption or illicit drug use, can contribute to the progression.

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Diagnosis of Familial Hypertrophic Cardiomyopathy

To diagnose Familial Hypertrophic Cardiomyopathy, your doctor will start with a physical exam and review of your medical history. They may order tests like an echocardiogram, electrocardiogram, or genetic testing to confirm the diagnosis. These tests help assess the structure and function of your heart and look for genetic mutations associated with the condition. Early diagnosis is crucial for managing and treating Familial Hypertrophic Cardiomyopathy effectively.

Genetic Testing: Familial Hypertrophic Cardiomyopathy can be diagnosed through genetic testing to identify mutations in specific genes associated with the condition.
Echocardiogram: An echocardiogram is a non-invasive test that uses sound waves to create images of the heart's structure and function, which can reveal abnormalities typical of hypertrophic cardiomyopathy.
Cardiac MRI: Cardiac magnetic resonance imaging (MRI) provides detailed images of the heart, helping to assess the size and thickness of the heart muscle, as well as any other structural abnormalities.
Electrocardiogram (ECG or EKG): An ECG records the heart's electrical activity, detecting irregularities in the heart rhythm or

Treatment for Familial Hypertrophic Cardiomyopathy

Treatment options for Familial Hypertrophic Cardiomyopathy focus on managing symptoms and reducing complications. Medications like beta-blockers and calcium channel blockers can help control heart rate and blood pressure. Lifestyle changes such as regular exercise and a heart-healthy diet are important. In some cases, surgical procedures like septal myectomy or alcohol septal ablation may be recommended to improve heart function. Regular monitoring and follow-ups with a cardiologist are crucial for effective management.

Medications such as beta-blockers and calcium channel blockers are commonly prescribed to help manage symptoms and improve heart function in patients with Familial Hypertrophic Cardiomyopathy.
Implantable cardioverter-defibrillators (ICDs) may be recommended for individuals at high risk of sudden cardiac death due to arrhythmias associated with Familial Hypertrophic Cardiomyopathy.
Surgical interventions, such as septal myectomy or alcohol septal ablation, can be considered for patients with severe symptoms that do not respond adequately to medications.
Regular monitoring and follow-up with a cardiologist specialising in genetic heart conditions are crucial for individuals with Familial Hypertrophic Cardiomyopathy to optimise treatment strategies

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Frequently Asked Questions

How can Familial Hypertrophic Cardiomyopathy be identified through its signs?

Familial Hypertrophic Cardiomyopathy signs include chest pain, shortness of breath, abnormal heart rhythms, fainting, and family history of the condition.

What lifestyle changes should I make to manage Familial Hypertrophic Cardiomyopathy effectively?

Manage Familial Hypertrophic Cardiomyopathy by staying active, avoiding strenuous exercise, managing stress, and following a heart-healthy diet. Regular check-ups are crucial.

What are the potential complications of Familial Hypertrophic Cardiomyopathy?

Complications of Familial Hypertrophic Cardiomyopathy include heart failure, arrhythmias, sudden cardiac arrest, and an increased risk of blood clots and stroke.

How can Familial Hypertrophic Cardiomyopathy be treated and controlled?

Treatment includes medications to manage symptoms, implantable devices like pacemakers or defibrillators, and lifestyle changes. Regular monitoring is crucial.