Cardiomyopathy

What is Cardiomyopathy?

Cardiomyopathy is a condition that affects the heart muscle (myocardium) and can lead to serious complications such as heart failure, arrhythmias, or sudden cardiac death. This condition can be either hereditary or acquired and impacts the way the heart pumps blood and functions.

Cardiomyopathy is divided into three main types:

• Dilated Cardiomyopathy (DCM): The heart muscle becomes weakened and is unable to contract effectively, resulting in heart failure.
• Hypertrophic Cardiomyopathy (HCM): Characterized by thickening of the heart muscle, primarily in the left ventricle, which can lead to arrhythmias and reduce the heart’s ability to pump blood.
• Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC): Mainly affects the right ventricle and is associated with an increased risk of dangerous arrhythmias.

Why Choose Genetic Testing for Cardiomyopathy?

Genetic testing can reveal hereditary causes of cardiomyopathy, aiding in the early diagnosis and preventive management of the condition. Identifying genetic variations associated with cardiomyopathy allows doctors to provide targeted treatment and prescribe appropriate preventive strategies. Additionally, the test can help detect the condition in other family members, enabling timely monitoring and prevention of complications.

Genes Analyzed in the Genetic Test for Cardiomyopathy

The genetic test for cardiomyopathy examines genes related to the above conditions, such as:

• MYH7, MYBPC3, TNNT2: These genes are associated with hypertrophic cardiomyopathy (HCM), the most common hereditary form of cardiomyopathy.
• LMNA, SCN5A: These genes are related to dilated cardiomyopathy (DCM) and can lead to heart failure and arrhythmias.
• PKP2, DSP: Genes associated with arrhythmogenic right ventricular cardiomyopathy (ARVC), a disorder primarily affecting the right ventricle and causing arrhythmias.
• TCAP, DES, VCL: These genes are linked to cardiomyopathy that affects the heart’s structure and muscle tissue.

Who Can Benefit from the Test?

The genetic test for cardiomyopathy is particularly useful for:

• Individuals with a family history of cardiomyopathy or heart failure.
• Individuals experiencing unexplained cardiac issues or syncopal episodes.
• Those diagnosed with cardiomyopathy who wish to understand the underlying cause.

Families who want to prevent the transmission of the condition to future generations.