Thursday January 23, 2020

Mutations in Genes Associated with Heart Disease: Study

The study was presented at the 2019 American Heart Association Scientific Sessions in Philadelphia, US

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Genes
Apart from Genes, Researchers also identified lifestyle, environmental and other disease factors documented in the medical records that are associated with heart problems, like high blood pressure, diabetes, a history of alcohol or drug abuse, or previous chemotherapy treatment. Pixabay

Researchers have identified new mutations in Genes that is commonly associated with non-ischemic dilated cardiomyopathy (NIDC), a disease that weakens the heart muscle, making it more difficult to adequately circulate blood to meet the body’s needs.

Patients with NIDC struggle because the heart’s ability to pump blood is decreased, as the heart’s main pumping chamber, the left ventricle, is enlarged and dilated.

Unlike other kinds of heart conditions, NIDC often isn’t related to or a symptom or sign of a known cardiovascular disease or disease risk factor.

In the study, researchers from the Intermountain Healthcare Heart Institute in the US, have identified 22 mutations in 27 of 229 NIDC patients in a gene called TITIN — 15 of them not previously discovered.

These TITIN mutations are of a type called “truncating variants”, or TTN-tv, which are linked with the development of cardiomyopathy and heart failure.

“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,” said principal investigator of the study Jeffrey L. Anderson.

In the study, the DNA samples of the 229 Intermountain patients diagnosed with NIDC were analysed.

Researchers also identified lifestyle, environmental and other disease factors documented in the medical records that are associated with heart problems, like high blood pressure, diabetes, a history of alcohol or drug abuse, or previous chemotherapy treatment.

Patients were evaluated when they first presented and then were followed for five years.

Genes
Researchers have identified new mutations in Genes that is commonly associated with non-ischemic dilated cardiomyopathy (NIDC), a disease that weakens the heart muscle, making it more difficult to adequately circulate blood to meet the body’s needs. Pixabay

Patients with a TTN-tv mutation more often had severe cardiomyopathy at presentation, and by five years they were less likely to have recovered (11 per cent of those with a mutation versus 30 per cent of those without).

These patients also were more likely to have shown progressive disease, such as a heart transplant, implant of a permanent heart assist device, or death if they had a TTN-tv mutation (41 per cent) than if they didn’t (25 per cent).

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TTN-tv mutation patients also commonly were found to have non-genetic predisposing factors, suggesting that these other factors may act in concert with genetic factors to precipitate heart failure.

The study was presented at the 2019 American Heart Association Scientific Sessions in Philadelphia, US. (IANS)

Next Story

Diabetes is an Independent Risk Factor For Heart Failure: Study

According to health expert in India, if poorly controlled, diabetes leads to cardiomyopathy resulting in progressive deterioration of pumping capacity of heart

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Diabetes
The study shows that diabetes is an independent risk factor for the development of heart failure in the community dwelling population. Pixabay

Heart problems are a common development for people with diabetes and now researchers have found that diabetes is an independent risk factor for the development of heart failure in the community dwelling population.

According to health expert in India, if poorly controlled, diabetes leads to cardiomyopathy resulting in progressive deterioration of pumping capacity of heart.

“Diabetes is also a major risk factor for atherosclerosis and this eventually leads to blockage of coronary arteries. This leads to heart attack or myocardial infarction,” Satish Koul, HOD and Director Internal Medicine, Narayana Superspeciality Hospital, Gurugram, told IANS. “Due to myocardial infarction, the heart muscle becomes weak and eventually heart fails as a pump leading to congestive heart failure,” Koul added.

According to the current study, published in the journal Mayo Clinic Proceedings, researchers evaluated the long-term impact of diabetes on the development of heart failure, both with preserved ejection fraction – a measurement of the percentage of blood leaving the heart with each contraction – and reduced ejection fraction. They also looked at mortality in a community population, controlling for hypertension, coronary artery disease and diastolic function.

From an initial group of 2,042 residents of Olmsted County in US, 116 study participants with diabetes were matched 1:2 for age, hypertension, sex, coronary artery disease and diastolic dysfunction to 232 participants without diabetes.

Over the 10-year follow-up period, 21 per cent of participants with diabetes developed heart failure, independent of other causes.

Diabetes
Heart problems are a common development for people with diabetes and now researchers have found that diabetes is an independent risk factor for the development of heart failure in the community dwelling population. Pixabay

In comparison, only 12 per cent of patients without diabetes developed heart failure. Cardiac death, heart attack and stroke were not statistically different in the study between the two groups.

The study shows that diabetes is an independent risk factor for the development of heart failure in the community dwelling population. Furthermore, the outcome data support the concept of a diabetic cardiomyopathy.

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This research extends previous findings and demonstrates that even without a known cardiac structural abnormality and with a normal ejection fraction, diabetic patients are still at increased risk of developing heart failure as compared to their nondiabetic counterparts. (IANS)