Spotting a Gene Variant May Predict—and Help Prevent—Advanced Dilated Cardiomyopathy.

Spotting a Gene Variant May Predict—and Help Prevent—Advanced Dilated Cardiomyopathy.

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Dilated cardiomyopathy (DCM) is a heart muscle disease that causes the heart to enlarge and the muscular walls of the heart to become thin and weak, so the heart cannot properly pump blood to the rest of the body. 

DCM is among the most common causes of heart failure. In 2019, nearly 400,000 people were diagnosed with the disease. Left untreated, DCM can cause heart failure, sudden cardiac death, leaky heart valves, irregular heartbeat, and clotting due to blood pooling in the chambers.

The problem is that DCM often isn’t diagnosed until it becomes advanced because symptoms are very similar to other health problems:

  • Shortness of breath
  • Reduced ability to exercise
  • Swelling of the ankles, feet, legs, or abdomen
  • Fatigue
  • Chest pain or discomfort
  • Fast, fluttering or pounding heartbeat

But research led by MedStar Heart and Vascular Institute has found a way to identify patients who are at risk of developing DCM and intercept the disease sooner.

The DCM Precision Medicine Study showed that patients with advanced DCM are 2.5 times more likely to carry a genetic variant in one of 36 genes that relate to DCM. Through genetic screening, we can identify people in a patient’s family who may also carry that variant and therefore at higher risk of developing DCM—giving them a chance to catch the disease in its early stages, when more treatment options are available.

Common treatments for DCM.

When we treat dilated cardiomyopathy, we aim to reduce symptoms, improve blood flow and prevent further damage. Treatments can include medications to control the heart’s rhythm and help it pump more effectively, or surgery to implant a device to assist the heart. These can include:

  • Medications to control blood pressure and allow the heart to strengthen and shrink back to a more normal size
  • Pacemaker: This device stimulates the heart’s chambers to help it beat regularly and more effectively.
  • Implantable cardioverter-defibrillator (ICD): This device monitors the heart’s rhythm and delivers a shock if it detects an irregular heartbeat. 
  • In advanced cases of DCM, a heart transplant or implantation of Left ventricular assist device (LVAD), a mechanical heart pump is sometimes necessary If less invasive approaches are unsuccessful, a transplant or  LVAD can be a long-term solution to improve quality of life and survival.

About the study: A diverse cross-section.

The DCM Precision Medicine Study was a five-year study of clinical and genetic data from 1,265 patients with advanced DCM of unknown cause. Data from patients seen at 25 leading U.S. heart failure and heart transplant hospitals were divided into three groups based on the severity of their disease. Our study enrolled a high percentage of people with African ancestry (42%) and women (44%), giving us data that are more inclusive and more closely representative of the variety of patients we see and treat. 

We identified genetic links to DCM risk in 25% of patients in the group with the most advanced disease. Those with less advanced disease had significantly fewer genetic links. When we adjusted for patient demographics, environment, and overall health, we found that patients with the most advanced disease were nearly 2.5 times as likely than other patients to carry a DCM-associated genetic variant.

Genetic variants can be passed down through families. That means first-degree relatives of patients with advanced DCM who carry a genetic variant may be at increased risk of heart failure than people who don’t have a family member with DCM. 

Genetic screening and treatment for DCM.

The results of this study suggest that there should be early screening for the children, parents, and siblings of people with DCM like there are for other chronic, life-threatening diseases like colon or breast cancer. For example, my mother was diagnosed with breast cancer when she was in her early 40s, so my sister did not wait until she was 50 to start getting mammograms, rather, she started around the age of 30 on the advice of the cancer doctors, as they assumed she carried increased risk. 

The best way to know whether a patient’s child, sibling, or parent is at risk is to get genetic screening for that particular variant. MedStar Health’s board-certified genetic counselors can help you understand the details about genetic screening, and appointments are often available via telehealth. If you decide to undergo genetic screening, a DNA sample is taken from your saliva and analyzed in the laboratory. 

If you carry the variant or results are uncertain, your doctor may recommend regular screenings to monitor your health. A simple ultrasound of your heart, called an echocardiogram, can help identify DCM early in the disease when symptoms are hard to notice. In many cases, taking medications when DCM is mild can lower your chances of advanced heart failure and major surgery like an LVAD or transplant. 

If you are a first-degree relative of someone with DCM, talk with your doctor about genetic testing and DCM screening. Knowing whether family members carry the variant gives you a chance to connect with a doctor—ideally before symptoms develop—and slow or prevent this life-threatening condition. 

Do you or someone you love have symptoms of heart failure?

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