Genetic heart problem discovered during her pregnancy

Credit: Shauna Planck.

When Shauna Planck was in college, her father got so sick that he received a heart transplant.

Doctors told David Kennedy that his condition was not genetic, so none of his four kids had to worry about their heart health.

But around that same time, Planck indeed had reason to worry.

At least 10 times a day, her heart would flutter (palpitate) and pound for up to five minutes at a time. The episodes would strike any time: while she was sitting, getting ready for bed, taking exams or exercising.

Her doctor suggested she stop drinking caffeine.

“Don’t worry,” the doctor told her. “You’ll be fine.”

She cut out caffeine, but the palpitations persisted.

She learned to live with it. Over the next five years or so, she ran many half-marathons and a full marathon. She began a career in mechanical engineering, got married and moved from Arizona to Colorado.

Planck and her husband, Jeff, tried to start a family. The first time she got pregnant, she miscarried at eight weeks. The second time, she lost her baby at 24 weeks.

Doctors did some genetic testing of her lost child and discovered that the baby – a boy they planned to name Tucker – carried a gene mutation that can cause a condition known as dilated cardiomyopathy and sudden cardiac death.

Planck and her husband had genetic testing done. It showed that she carried the same gene mutation.

“It’s not significant unless you have heart disease in your family,” Planck’s doctor told her.

She did. In addition to heart failure that led to her dad’s transplant, his mother and grandmother had died of heart failure.

And the test results arrived while she was newly pregnant again.

Planck turned her care over to a cardiologist and a high-risk OB-GYN.

She delivered her son, Tillman, about a month premature. Within days, both were home and healthy. Planck later had a device implanted that monitors her heart rhythm and can help control abnormal rhythms.

Five years later, Planck is now 37. Her cardiologist, Dr. Prateeti Khazanie, has said she may eventually need a heart transplant.

“I will say that she is one of the (emotionally) strongest patients I know,” Khazanie said.

Tillman has been tested for the gene mutation. He doesn’t carry it.

Written by Kellie B. Gormly.

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