Genetics play role in dangerous heart condition

Cardiomyopathy, or DCM, is an enlargement of the heart, leading to heart failure. Genetics has been shown to play a huge role, according to a new study.

While it’s known that DCM enlarges the heart, preventing it from pumping enough blood, until recently, it wasn’t widely understood what role inherited genes played.

“The vast majority of people with idiopathic cardiomyopathy never get genetic counseling,” explained Dr. Mark Hofmeyer, who is a heart failure specialist with MedStar Washington Hospital. MedStar recently underwent a five-year dilated cardiomyopathy study revealing first-line family connection gene mutations. “It’s critically important that people get screened upfront to avoid progression of disease to severe forms, or dying suddenly.”

Hofmeyer also warned against brushing off tell-tale symptoms, which are shortness of breath, leg swelling, and fatigue. “Many times, they feel, ‘This is just associated with aging,’ that, ‘I’m feeling more tired,’ that, ‘I don’t have the energy I had before,'” he said.

Screening leads to earlier diagnosis, making treatment with medications possible, Hofmeyer said. “Getting screening – and not only screening, but recurrent screening – is really the key.”

This is the first study to link rare variant genes associated with DCM.