genetic testing for cardiomyopathy - hygeamedicine.com · genetic testing? the benets of genetic...

WHAT IS GENETIC TESTING? 

Genetic testing involves examining anindividual’s DNA or genes for genetic changes(variants) that may be associated withdisease. Over 99% of our DNA is the sameamong all people; however, there are alsovariations or differences in our genes. Most ofthese differences are considered benign orharmless and do not increase an individual’srisk for disease. However, some variants areassociated with disease, these are calledpathogenic variants. Most genetic testinginvolves taking a blood or saliva sample thatis sent to a specialized laboratory for testingto identify variants that are pathogenic.

Genetic Testingfor Cardiomyopathy

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WHAT IS A CARDIOMYOPATHY? 

WHAT ARE POTENTIAL CAUSES OF A

CARDIOMYOPATHY?

WHO SHOULD HAVE GENETIC TESTING

FOR A CARDIOMYOPATHY CONDITION?

A cardiomyopathy is a group of disorders inwhich the heart muscle is weakened andcannot pump blood e�ciently. The decreasedheart function can affect other body systems,such as the lungs and liver.

Cardiomyopathies can be caused or beassociated with other health conditions (forexample, chronic high blood pressure,diabetes, or heart valve problems) or byenvironmental factors (for example, vitaminde�ciencies, drug or alcohol abuse, or certainmedications). Some genetic conditions canalso put an individual at a higher risk ofdeveloping a cardiomyopathy.    

WHAT ARE THE BENEFITS AND RISKS OF

GENETIC TESTING?

The bene�ts of genetic testing for acardiomyopathy may include to:

 Genetic tests typically have little physical risk.Blood, cheek swab, or saliva tests havealmost no risk. However, genetic testing canhave emotional, social, and/or �nancial risks.These risks can be discussed with your doctoror a genetic counselor before you have agenetic test.

Help make a diagnosisProvide an explanation of thecardiomyopathy conditionDetermine if the condition may affect morethan your heartDetermine the best course of managementof the conditionProvide information that might determine ifother family relatives are at risk for thesame cardiomyopathy condition

Genetic testing may be appropriate if youhave: 

A known or suspected diagnosis of one ormore of the following:

an unexplained cardiomyopathysudden and unexplained cardiac arrestsyncope (fainting)

A family history of:one or more of the symptoms listedabovesudden unexplained death

A family member with a previouslyidenti�ed pathogenic variant in a genecausing a cardiomyopathy condition