Fishing Expedition Finds Genetic Link in PPCM

Pregnant women with peripartum cardiomyopathy have a genetic link

/ Author:  / Reviewed by: Joseph V. Madia, MD

(RxWiki News) Peripartum cardiomyopathy (PPCM) is a rare disease that affects one in 3,500 pregnant women, weakens the heart so that it no longer pumps blood efficiently. The cause of PPCM has been unknown, until now.

Researchers at the Intermountain Medical Center Heart Institute have identified a genetic mutation associated with PPCM, the potentially devastating form of heart disease that affects women in the final weeks of pregnancy or the first few months after delivery. Most PPCM patients can be treated with medicine.

"Ask your OB/GYN if the genetic test to pinpoint PPCM is available."

Benjamin Horne, PhD, director of cardiovascular and genetic epidemiology at Intermountain Medical Center and lead researcher for the study finds this to be an important breakthrough because up until this point, there hasn't been an identified gene to the disease associated with PPCM. This will give researchers a target to identify for more information about the disease.

Hopefully, this will eventually lead to a genetic test to identify those at risk for having heart failure onset during pregnancy. Perhaps doctors will then be able to reduce or prevent the complications from this disease.

This study involved gathering DNA samples at Intermountain Medical Center from 41 women in their 20s and 30s who had heart failure during pregnancy. The control group was 49 women over 75 who had never experienced any heart problems. Both sets of data were sent to a genetic testing center for, what Horne calls, a fishing expedition: What is going to show up?

The testing found that about 66 percent of the women who experienced heart failure during pregnancy shared a genetic mutation on chromosome 12.

That found, there was a second round of testing, this time in three different groups of patients: One group of women with pregnancy onset heart disease,  a control group of older women who had never experienced heart problems and a third group of younger women were also evaluated.

The results confirmed the first comparison, so then they repeated the process and added a third control group of healthy women.

All three sets of tests confirmed the first finding: Women who experience heart failure during pregnancy  are approximately two-and-a-half times more likely than healthy women to carry the genetic mutation on chromosome 12. Dr. Horn explains that in medicine, that is a significant correlation.

The mutation on chromosome 12, Dr. Horn observed, is located near a gene that can possibly be used in testing for pregnancy-related cardiomyopathy and that particular gene has been shown to regulate blood pressure and muscle contraction in the uterus and heart.

This study is published in the online edition of Circulation: Cardiovascular Genetics and will appear in the print edition of the journal presently.

Reviewed by: 
Review Date: 
June 21, 2011
Last Updated:
June 26, 2011