Peripartum cardiomyopathy is a rare heart ailment, characterized by a weakened heart muscle, that occurs during pregnancy. But why do some pregnant women develop this condition while others do not? According to United Press International (UPI), new research may have found a clue: genetics. Researchers from the University of Pennsylvania Perelman School of Medicine recently discovered four separate genetic mutations which seem to increase the risk of developing peripartum cardiomyopathy. In the past, these same researchers identified 26 mutations associated with this condition. As a result, 30 genetic mutations now exist which increase the risk of developing this complication. Check out the full study findings published in Circulation.
The Research
During their study, researchers evaluated the DNA and medical records of approximately 470 women with peripartum cardiomyopathy. To do this, the researchers utilized next-generation sequencing (NGS). According to Thermo-Fisher Scientific, NGS is:
a technology for determining the sequence of DNA or RNA to study genetic variation associated with diseases or other biological phenomena. Introduced for commercial use in 2005, this method was initially called “massively-parallel sequencing”, because it enabled the sequencing of many DNA strands at the same time, instead of one at a time as with traditional Sanger sequencing by capillary electrophoresis (CE).
In this case, researchers used NGS to search for genetic mutations on 67 genes, including TTN, which plays a role in heart muscle function (contractions and blood pumping). Through this, they determined that TTN mutations were present in 10% of patients with peripartum cardiomyopathy. Outside of TTN mutations, researchers found 3 other genetic mutations associated with dilated cardiomyopathy. Since peripartum cardiomyopathy shares many elements with dilated cardiomyopathy, the researchers felt that this was important to note.
At the same time, researchers suggest that more research is needed to understand why some women with these gene mutations develop peripartum cardiomyopathy while others do not. Until then, if you are experiencing abnormal symptoms during pregnancy, please speak to your doctor.
Peripartum Cardiomyopathy
According to Dr. Lili Barouch at Johns Hopkins Medicine, peripartum cardiomyopathy (PPCM), or postpartum cardiomyopathy, is:
a weakness of the heart muscle that by definition begins sometime during the final month of pregnancy through about five months after delivery, without any other known cause. Most commonly, it occurs right after delivery.
In some cases, patients recover full cardiac function within one or two weeks. However, in other cases, it may take over six months to recover. Unfortunately, some patients never regain full cardiac function. In fact, an estimated 1/3 of patients have life-long heart failure. Only an estimated 1,000-1,300 Americans are affected each year. In patients with PPCM, the heart is unable to pump as much blood as it should at the rate that it should. As a result, heart failure occurs. Those who are pregnant should speak to their doctor about pregnancy-related symptoms which are worse than expected or worsening over time. Some symptoms, such as water retention, experienced during pregnancy can also highlight heart failure.
Symptoms of PPCM include:
- Shortness of breath which worsens when resting or lying down
- Fatigue
- Recurrent cough
- Heart palpitations
- Increased nighttime urination
- Water retention
- Swelling of the feet and ankles
- Swollen neck veins
- Low blood pressure
