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Genetic Cardiomyopathies

There are numerous genetic causes of heart failure, and still more that have likely not been identified. At HCVA we are dedicated in performing a thorough patient assessment, and routinely send genetic testing on our patients if we do not know the cause of a patient’s heart failure. If this testing comes back positive, it can help us choose the best possible treatment, and further serve as screening tools for patient’s family members. In addition, sending genetic testing can help scientists identify new genes that cause heart failure.  
 
The most common genetic form of heart failure is hypertrophic cardiomyopathy (HCM), which is an autosomal dominant gene, and occurs in 1 of 500 people. HCM is characterized by having very thick heart walls, which can cause heart dysfunction and has an increased risk for arrhythmias. HCM is diagnosed with cardiac imaging such as echocardiography and cardiac MRI, but once HCM is identified, we recommend genetic testing. Treatment includes medications, implantable defibrillators, and sometimes minimally invasive or open-heart surgery.  
 
Dilated cardiomyopathies (DCM) are a common cause of heart failure, some of which are genetic. There are dozens of genes that can cause DCM, although genetic testing can usually only identify 40% of cases with a positive family history. Like HCM, these genes are often autosomal dominant, meaning that relatives of these patient carry a high risk of carrying the gene as well.  
 
Arrhythmogenic cardiomyopathies can cause failure of right, left, or both ventricles and are often associated with life-threatening arrhythmias. Implantable defibrillators are often recommended for patients with this type of heart failure.

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