Beyond the Headlines: Preeclampsia and Cardiomyopathy: Shared Genetics?

Women with a history of preeclampsia are at a two-to-eight times increased risk of cardiovascular disease (CVD) later in life, however, it isn’t fully understood if preeclampsia causes CVD or if the conditions share common risk factors. We go "Beyond the Headlines" to chat with researcher Hilary S. Gammill, MD, about the link between preeclampsia and cardiomyopathy.
Titled “Preeclampsia and Cardiomyopathy: Shared Genetics?” this major study advances our understanding of the shared genetics of preeclampsia and heart disease. It demonstrates that gene variants related to some types of heart disease, such as peripartum cardiomyopathy, are also associated with preeclampsia. Peripartum cardiomyopathy, also known as postpartum cardiomyopathy, is an uncommon form of heart failure that happens during the last month of pregnancy or up to five months after giving birth. Cardiomyopathy literally means disease of the heart muscle.
This is the largest whole exome sequencing study done on a preeclampsia population. Researchers studied the DNA samples of 181 women with a history of preeclampsia through The Preeclampsia Registry. They conducted DNA sequencing on the samples, looked at 43 gene variants associated with cardiomyopathy, and examined the resulting data. The results from The Preeclampsia Registry participants were compared with known results from two control, or comparison, groups.
The study found that women with a history of preeclampsia were significantly more likely to carry a gene variant related to cardiomyopathy than those in the control groups. For this subgroup of women, this study suggests a correlation of shared risk factors. Interestingly, the study found that preeclampsia subjects with a cardiomyopathy genetic variant tended to have later onset preeclampsia. Any first-to-publish research like this study needs further validation.
These findings have the potential to better determine a woman’s risk for heart disease after preeclampsia, and may also inform future studies that seek to define and predict both preeclampsia and heart disease. More research and an improved understanding of the relationship between preeclampsia and heart disease can also influence care during and after pregnancy, and ultimately, improve cardiovascular health for women.
“We’ve known about gene variants in cardiomyopathy for some time, so we wanted to analyze the presence of these genes among preeclampsia survivors,” said Kenneth Ward, MD, the senior author of the study, medical geneticist, and Laboratory Director at Taueret Laboratories LLC, Salt Lake City, Utah, which provided an in-kind donation to facilitate the sequencing part of the study. “In general, a small number of the general population carry these cardiomyopathy genes, but these preeclampsia survivors had a much higher rate of carrying them.”
“This study, and The Preeclampsia Registry more broadly, represent results of a true partnership between preeclampsia, eclampsia, and HELLP syndrome survivors and families, researchers, and the Preeclampsia Foundation,” said Eleni Tsigas, the Preeclampsia Foundation’s Chief Executive Officer and co-author of the study. “As a patient advocacy organization that empowers survivors and families to drive research, we’re pleased to offer The Preeclampsia Registry as an important resource for preeclampsia researchers. In fact, the data resulting from this study will be gifted back to the Registry for other researchers to use.”
“Participants in The Preeclampsia Registry are admirably committed to improving preeclampsia outcomes. Their dedication made this study possible and provided insights into preeclampsia and cardiomyopathy genetics that will inform future research with implications for understanding preeclampsia, as well as long-term maternal health,” said co-author Hilary Gammill, MD, a Maternal-Fetal Medicine physician-scientist, Associate Professor at the University of Washington, and co-chair of the Scientific Advisory Council for The Preeclampsia Registry.
The first of its kind to focus solely on hypertensive disorders of pregnancy, The Preeclampsia Registry captures self-reported and clinical information (medical records) from preeclampsia survivors and off-springs, as well as their family and pregnancy histories, and DNA. It is overseen by an Institutional Review Board and ensures participants’ privacy and rights in medical research. Launched in 2013, The Preeclampsia Registry currently includes more than 4,000 participants from every state in the nation as well as 67 countries around the world.
Funding for this study was generously provided by the Peter Joseph Pappas Research Grants program through the Preeclampsia Foundation, Taueret Laboratories, LLC, and the Community Foundation for Brevard.
Please direct any questions or comments to [e-mail].
READ FULL STUDY: bit.ly/sharedgenetics

[@intuitknit]

Genetically is there a difference between mothers who get preeclampsia very early in pregnancy and those who get it near term? I had preeclampsia at 25 wks and another time at 33 wks. I enrolled in the registry but never got contacted for a saliva test etc. my children are now in their 30's . My question is , how can you determine if CV disease in offspring is due to effect of having a mother with preeclampsia or severe prematurity at birth?

[@PreeclampsiaFoundation]

Early research studies are beginning to show that there may be different genotypes and phenotypes between early onset preeclampsia and late or term-onset preeclampsia, though there's still more research that needs to be done. If you would, please email [e-mail] about your DNA test - our Research Manager Alina Brewer would be happy to help you take next steps to getting a kit. To your second question, the research seems to suggest that both are at play - babies who were born preterm tend to have more cardiovascular issues later in life AND are more likely to parent preterm babies themselves. But at the same time, there's also evidence that if you had genetic risk for CVD that put the mom at higher risk of preeclampsia, her children also carry that risk. We have a great section on our website that details more of these studies here: preeclampsia.org/the-news/Research-Roundup