Researchers find genetic link to heart disease in pregnant women

New insights can help save many lives in the future
For a long time, researchers have been searching for the cause of life-threatening heart disease in pregnant women. Heart failure could be genetically determined, a global study found.

American researchers now found a genetic link that could affect heart disease in pregnant women. Peripartum cardiomyopathy (PPCM) may cause heart failure in late pregnancy or shortly after birth in women, researchers report at the Royal Brompton Hospital and the Penn Cardiovascular Institute. The results of their current study published the physicians in the journal "New England Journal of Medicine".

Some women develop life-threatening heart problems during pregnancy. The cause is obviously in the genes. (Image: Romolo Tavani / fotolia.com)

Causes of Peripartum Cardiomyopathy Found
It appears that the researchers have now found the cause of the life-threatening disease, which can cause heart failure in pregnant women. Peripartum cardiomyopathy (PPCM) affects about 700 women in the UK alone each year, warn the experts. So far, the causes of this disease were not clearly understood. American physicians now found in the global study that a sequence of key gene variants in women could trigger this disease. Previously known risk factors include pre-existing hypertension and preeclampsia. The most common symptoms of such diseases are respiratory distress and palpitations, the scientists explained. Although these can usually be treated with drugs such as ACE inhibitors and beta-blockers, in the most severe cases, heart transplants are the only long-term way to treat the condition.

Researchers are looking for conditions for DCM and PPCM
Recent research has sought to determine if the conditions for such diseases are related to genetic mutations that then trigger what is known as dilated cardiomyopathy (DCM). This disease would be similar in its effects to PPCM, the researchers said. The similarities include, for example, heart enlargement, decline in cardiac function and sudden death. The physicians found that one in five cases is caused by variants in the TTN gene.

Certain gene variants can disrupt cardiac function
The researchers used a sample of 172 women with PPCM, from six health centers around the world, for their study. In addition, the physicians examined 332 people with DCM in the UK and 60,000 control persons. Afterwards, the scientists compared the prevalence of variants in 43 genes. In about fifteen percent of PPCM patients, variants were found that disrupt our major cardiac genes. This value was significantly greater than that of the controls. However, the result was similar to that of patients with DCM. This was about 17 percent. It was noticeable that about ten percent of women with PPCM had mutations in the TTN gene. In the control group it was only 1.4 percent. These results suggest that PPCM has very similar genetic characteristics to DCM. Variants of the TTN gene are the most common genetic disposition of the two diseases, explain the scientists.

Research explains the occurrence of many PPCM cases
The results of their research will affect the way such diseases are treated in the future and could help save lives, researchers hope. For example, relatives of PPCM patients should receive the same genetic screening. So it was possible to identify all cases of the disease as quickly as possible, added the scientists. The facts obtained explain why a significant number of PPCM cases occur. If we look at the cases, we find that a lot of genetic abnormalities occurred, Dr. James Ware, lead author of the research paper. PPCM has a mortality rate of five to ten percent. Clarifying the question of why the disease affects some women could help save many lives in the future. However, further research is needed to better understand the value of genetic information in predicting PPCM, the physician added.