The information below summarizes findings from a recent research study. The information is meant for patients who participated in the study.

Study Name: Peripartum Cardiomyopathy (PPCM) Study

Study Description: PPCM is a very rare condition that causes women to have serious heart problems during pregnancy or shortly after giving birth. This study took initial steps to evaluate how genetic factors influence PPCM.

Principal Investigator: Rami Alharethi, MD

What Did the Research Find?

Our research identified a genetic marker that is associated with the occurrence of PPCM. A genetic marker is a like a "sign post" in our genetic "road map".

peripartum cardiomyopathy genetic marker study
The genetic marker (shown in red) is more common in PPCM patients than in controls. However, not all patients with PPCM carry the marker and some individuals who do not have PPCM do have the marker.

Key Points to Understand About This Research Finding:

  • Not every patient with PPCM carries the genetic marker.
  • The marker is often present in people without PPCM (16-18% of the population carries it, compared to 32% of PPCM patients).
  • The marker itself does not cause PPCM, it is thought to be nearby the genetic factor that may confer PPCM susceptibility. Using the road map analogy, the marker is a sign post near an unknown genetic road hazard that is the actual problem.
  • The genetic factor associated with this marker does not cause PPCM by itself. PPCM is genetically complex and likely requires multiple genetic and/or environmental factors.
  • Because of the reasons listed above, this marker cannot be used as a predictive test for PPCM.
  • On the other hand, we are excited by this finding because it is an in-road to understanding how PPCM occurs.

What Significance Does This Marker Have for PPCM Patients?

The marker cannot predict whether a person will have PPCM or not. Many patients with PPCM don't have the marker and many people who will never develop PPCM carry the marker. Because of this lack of conclusive evidence, knowing whether or not someone carries this marker will not change how physicians monitor or treat women who are pregnant or who are planning to become pregnant.

Are We Allowed to Release the Specific Genetic Test Results to Patients?

Unfortunately, no. As outlined in the approval and consent forms signed by all participants, we are prohibited from releasing the individual level results of this research directly to participants. In addition, the research finding falls short of the requirements that allow us to return the individual results for the following three reasons:

  1. Carrying the marker does not specifically predict who will or will not develop PPCM
  2. Whether or not a person carries the marker will not change how doctors monitor or treat patients
  3. For a genetic research finding to be released to participants, the finding would have to be validated in an approved clinical laboratory that offers the finding as a clinical genetic test. Our lab is a research lab, not an approved clinical lab. In addition, no clinical laboratories currently offer this marker as a clinical genetic test.

Why is There Not Yet a Genetic Test for PPCM?

To create a genetic test for PPCM, researchers need to validate the finding in a larger group of people. This will allow them to more clearly understand the nature and extent to which the marker is actually alerting us to an actual genetic road hazard.

Does This Finding Change Medical Treatment for PPCM?

No. This genetic marker does not give doctors enough information to alter surveillance or management of their patients.

Based on this and other research, it is clear that PPCM is a multifactorial disease. It is caused by a combination of environmental, genetic, and other factors. Unfortunately, our current understanding of the genetic contributions to PPCM is not specific enough to change medical care for patients or their family members.

Treatment recommendations and counseling about risks of recurrence within families are not changed by the presence of this marker.

What are the Next Steps in This Research?

While there is still work to do before we can provide your family members with a predictive genetic test for this complex condition, we are excited by this progress. We are committed to working with you to understand the complex genetic and/or environmental factors that lead to this condition.

We are one of 30 centers across North America participating in a Peripartum Cardiomyopathy Network funded by the National Institutes of Health. This network is aimed at understanding the complex issues and questions related to diagnosing and treating PPCM.

Thank You

Thank you to all participants for your kind cooperation and patience in moving this important research forward.