Interview With the DCM Foundation (Part 2)
Editor's note: This is part 2 of a two-part interview series with the DCM (dilated cardiomyopathy) Foundation. See part 1.
What is genetic testing and how does it apply to heart failure?
An estimated 50% of the time, the cause of DCM is unknown; this is referred to as idiopathic DCM. Thanks to DCM research studies, we now know that most idiopathic DCM has a genetic cause and can run in families. Given the progress that the medical community has made in understanding the significant role that genetics has in the development of DCM, the DCM Foundation advocates for genetic testing for several reasons:
- Given that many DCM patients are asymptomatic in the early stages of DCM, genetic testing is a key way to detect, screen for, and effectively treat DCM before the development of symptoms. Genetic testing can reveal gene mutations that may cause heart failure and other DCM-related symptoms.
- Researchers have identified close to 40 gene mutations that are a factor in DCM. The more people with or at risk for DCM who have genetic testing, the more researchers can fully understand these genetic mutations and their impact on the development of DCM.
- Having genetic testing data on a large group of patients and at-risk family members will result in more valuable information for researchers, device, and pharmaceutical companies. They can then use these data to develop clinical trials and other research studies.
Who should consider genetic testing for heart failure?
Anyone with DCM without a clear cause, women who develop DCM associated with pregnancy, and those who have relatives with DCM should be tested. Some genetic mutations can be passed down from generation to generation of an affected person’s family. In this instance, the affected person’s children, siblings, and parents should be tested to identify at-risk persons who may have a genetic mutation and are at risk of developing DCM. The earlier health care professionals can detect and start treatment for DCM, the better the long-term health outcome for the patient.
The Heart Failure Society of America has published guidelines for the genetic evaluation of individuals with cardiomyopathy, including DCM.1 Genetic testing, including the genes known to cause DCM, is now widely available from testing laboratories and can even be done at home. It has become an easy way to identify if an individual has gene mutations that cause DCM and to determine appropriate therapy and/or further screening.
What are the ways to prevent DCM?
A few ways to prevent (or slow the progression) of DCM include:
- Lead a healthy lifestyle to prevent the onset of coronary artery disease.
- While there is no way to prevent DCM if the cause is genetic, effective medical therapy can reduce or slow the progress and severity of symptoms. If an individual has family members with DCM resulting from genetics, they should go through genetic testing and counseling to better understand their risk of developing DCM.
- Individuals experiencing any symptoms of DCM or heart failure should immediately contact their physician or cardiologist.
The good news is much progress has been made in the medical community to fight and conquer DCM. The likelihood of living a healthy life with DCM is becoming much better and outcomes should continue to improve in the future.
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