Heart hypertrophy, hereditary

Heart Hypertrophy, Hereditary

Heart hypertrophy refers to the enlargement of the heart muscle, which can occur due to various factors, including genetic predispositions. Hereditary heart hypertrophy is a condition where the enlargement of the heart muscle is primarily due to genetic factors passed down through families.

Overview

Hereditary heart hypertrophy is often associated with conditions such as Hypertrophic Cardiomyopathy (HCM), which is a common genetic heart disorder. In HCM, the heart muscle becomes abnormally thick, making it harder for the heart to pump blood. This condition can lead to various complications, including heart failure, arrhythmias, and sudden cardiac death.

Genetic Basis

Hereditary heart hypertrophy is typically caused by mutations in genes that encode proteins of the cardiac sarcomere, the fundamental unit of muscle contraction. Commonly affected genes include:

• MYH7 - Encodes the beta-myosin heavy chain.
• MYBPC3 - Encodes cardiac myosin-binding protein C.
• TNNT2 - Encodes cardiac troponin T.

These genetic mutations are usually inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene from an affected parent can cause the condition in the offspring.

Clinical Presentation

Patients with hereditary heart hypertrophy may present with a variety of symptoms, including:

• Shortness of breath
• Chest pain
• Palpitations
• Syncope (fainting)

However, some individuals may remain asymptomatic and are diagnosed through family screening or incidental findings during medical examinations.

Diagnosis

The diagnosis of hereditary heart hypertrophy involves a combination of clinical evaluation, family history, and diagnostic testing, such as:

• Echocardiography - To assess the thickness of the heart muscle and evaluate heart function.
• Electrocardiogram (ECG) - To detect electrical abnormalities in the heart.
• Genetic Testing - To identify specific mutations associated with the condition.

Management

Management of hereditary heart hypertrophy focuses on alleviating symptoms, preventing complications, and monitoring disease progression. Treatment options may include:

• Medications - Such as beta-blockers or calcium channel blockers to reduce heart workload and control symptoms.
• Lifestyle Modifications - Including exercise restrictions and dietary changes.
• Surgical Interventions - Such as septal myectomy or alcohol septal ablation in severe cases.
• Implantable Devices - Like pacemakers or defibrillators to manage arrhythmias.

Prognosis

The prognosis for individuals with hereditary heart hypertrophy varies depending on the severity of the condition and the presence of complications. Regular follow-up with a cardiologist is essential to monitor heart function and adjust treatment as needed.

Also see

• Hypertrophic Cardiomyopathy
• Cardiomyopathy
• Genetic Disorders
• Heart Failure

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A

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B

• Brown atrophy of the heart

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D

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E

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H

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I

• Idiopathic giant-cell myocarditis
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K

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L

• Loeffler endocarditis

M

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N

• Nonbacterial thrombotic endocarditis

O

• OLR1
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P

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R

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T

• Traumatic cardiac arrest

V

• Ventricular aneurysm
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W

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