Gene Mutations and Heart Health

It’s safe to say that genes have a large say in how our bodies develop. Likewise, genetic mutations can have a massive impact on our quality of life. Given these facts, it’s probably not surprising to learn that heart-related genetic mutations can be a very serious problem. 

Harmful to the Heart 

A recent study from the Intermountain Healthcare Heart Institute in Salt Lake City, Utah examined this very topic. For this report, the authors analyzed 229 people with a disease known as non-ischemic dilated cardiomyopathy, or NIDC for short. Those living with this condition are victimized by weakened heart muscles; consequently, their circulatory systems struggle to push blood throughout the body. 

The authors noted that, out of the 229 participants, 27 were found to have numerous mutations in a specific gene. Specifically, they uncovered 22 distinct mutations in a gene known as TITIN. Furthermore, the mutations the team found (referred to as “truncating variants”) are associated with relatively poor heart health. 

One study author, Dr. Jeffrey L. Anderson, noted that “truncating mutations in TITIN are common in NIDC, so we wanted to know: if we find one, should we be more, or less worried about the patient’s prognosis? The answer is yes.”

The truncating variants, abbreviated as TTN-tv, were determined to negatively impact the participants’ long-term health. Compared to those without this problem, people with TTN-tv mutations were much less likely to recover from cardiomyopathy, a serious condition that inhibits heart function. Additionally, progressive heart problems were noticeably more common amongst those with these mutations. 

Taking Action

Given the study’s findings, Dr. Anderson argues that testing should be conducted to determine the presence TITIN mutations. “ [I]f patients were to be tested and identified as having a disease-predisposing mutation, physicians could then be more aggressive about monitoring them and treating them with known heart failure drugs and devices. If we test patients for one of these disease-related mutations, we can identify them and also affected family members whose disease is more likely to occur and then progress so we can be better on top of prevention and treatment measures.”

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