Study helps unravel why pregnant women develop heart failure similar to older patients

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Penn Medicine researchers have identified more genetic mutations that strongly predispose younger, otherwise healthy women to peripartum cardiomyopathy (PPCM), a rare condition characterized by weak heart muscle that occurs anywhere in the last month of pregnancy up to five months after the delivery begins. PPCM can cause severe heart failure and often leads to lifelong heart failure and even death. The study is published today in Circulation.

PPCM affects women in one in 2,000 shipments worldwide, with about a third of these women suffering from heart failure for life and about five percent dying within a few years. Maternal mortality in the US has doubled in the past 20 years, and PPCM is a leading cause of these deaths. Previously, the reasons women developed PPCM remained a mystery until a 2016 study strongly suggested that some genetic mutations predispose women to the disease. Zoltan P. Arany, MD, PHD, the Samuel Bellet Professor of Cardiology at the Perelman School of Medicine at the University of Pennsylvania, was also the lead author on this study. This newly published study sheds light on four more genetic variants that were not previously associated with PPCM. This genetic profile was found to be very similar to that in patients with non-ischemic dilated cardiomyopathy (DCM), a very similar disease that typically affects middle-aged men and women and that the medical community is more knowledgeable about.

“This study provides the first comprehensive genetic and phenotypic landscape of PPCM and has important implications for understanding the relationship between PPCM and DCM,” said Arany. “It shows that predisposition to heart failure is an important risk factor for PPCM, suggesting that approaches that are being developed for DCM may also apply to patients with PPCM.”

For the study, Penn researchers retrospectively identified nearly 470 women with PPCM from multiple academic centers in the US and abroad and examined clinical information and DNA samples. They then performed next-generation sequencing on 67 genes, including a gene known as TTN, which makes a large protein that controls how heart muscle cells contract and pump blood. 10.4 percent of the examined patients showed shortened variants of the TTN gene, compared with only 1.2 percent of the reference population. The researchers also found an overrepresentation of truncated variants in three other genes that were previously not associated with PPCM, but previously associated with DCM.

The researchers hope this will lead to changes that will allow clinicians to follow similar, well-established genetic testing practices and counseling guidelines that have already been used for patients with DCM, as well as gene-specific therapies.

“We believe this study shows the importance of genetic screening and counseling for women who develop PPCM, which is not currently common, and perhaps even for their female family members of childbearing age,” said Arany. “As a doctor, if you know that you have a patient with PPCM who has these genetic mutations, you can make changes in their care, such as lowering the threshold for using defibrillators for high-risk variants or advising family members about their risk Development of PPCM. “

While this study sheds important light on the genes at play for women who develop PPCM, further investigation needs to be done on how pregnancy triggers them in some women with a specific genetic make-up, as not all women with these gene variants develop PPCM develop when they get this pregnant.

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More information:
Edition (2021). DOI: 10.1161 / Edition aha.120.052395 Provided by the Perelman School of Medicine at the University of Pennsylvania

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