With an irregular heartbeat and a buildup of scar tissue around her heart, but no answer as to why, Elisabeth was referred to Brigham Health's Division of Cardiovascular Medicine. See how her team of cardiac specialists uncovered a genetic heart condition and reshaped Elisabeth's plans for building a family.

Elisabeth's Story: The Will to Find Answers

Elisabeth always thought the fluttering in her chest was supposed to be there, until the day she learned it wasn't. That's the day a lab partner in her nursing class, tasked with taking her blood pressure, was unable to get a reading and asked their nursing professor for help. 

"Do you have an arrhythmia?" the teacher asked Elisabeth, a young nursing student at the time. The question left her stunned. 

"I had never really thought about it," she says of her racing heart. "It was normal to me." 

It would be years before Elisabeth knew her heart arrhythmia by its medical name, arrhythmogenic cardiomyopathy, a condition that occurs when the electrical signals to the heart aren't firing properly. Left undetected, it can cause erratic heart rhythms that can lead to sudden death.

A search for answers across state lines

Elisabeth's quest for medical care began in North Carolina, where she was then living with her husband, Zachary. At the time, some of her doctors attributed the odd heartbeats to stress or caffeine. Others suspected she had an undetected childhood viral infection, which would cause scar tissue to form on her heart. 

The first attempts at treatment were plentiful, but unsuccessful. She was given beta blockers that she couldn't tolerate and medication that gave her scary dreams. She underwent several cardiac ablations—procedures that use diagnostic catheters threaded through blood vessels directly to the heart to map the heart's electrical signals and repair any affected areas. She also had a heart monitor implanted to check on those persistently irregular beats. Even after all this attention, nothing seemed to add up.

When one North Carolina doctor told her to "wait and see" what happens, Elisabeth had enough. She was done waiting. She wanted answers.

Finally, an explanation came in 2017. That year, her cardiologist in North Carolina referred her to the experts at Brigham Health. With a new lead and a big move already planned, she and her husband moved to Massachusetts, where they hoped the doctors in one of the nation's top cardiology departments could direct her toward the truth.

It was Sunil Kapur, MD, an electrophysiologist at Brigham Health, who pointed her in the right direction, first by scheduling an MRI. The results of the MRI showed that the scar tissue detected years earlier had increased since her earlier procedures. Those results disproved the theory that the scar tissue came from a childhood illness. An EKG also revealed Elisabeth's erratic heartbeats were increasing over time. 

Dr. Kapur performed an ablation to address the irregular heartbeats. He also recommended she see Neal Lakdawala, MD, an expert in cardiovascular genetics at Brigham Health, who could investigate if there was a potential genetic cause of her condition.

A medical mystery meets its match

"I'm not going to see a genetic anybody," Elisabeth says she adamantly told her husband early on. Given her parents and grandparents were still alive and there was nothing genetically wrong with them, Elisabeth found it hard to believe there was anything genetically wrong with her. 

Eventually, she decided a visit to Dr. Lakdawala couldn't hurt. And it was her first impression of the doctor that helped change her mind.

"He was so kind and warm," she says. "I thought maybe I should give this a chance."

At the start of their consultation, Dr. Lakdawala asked the routine medical questions that Elisabeth had been asked by other doctors before: When did she first notice her heart palpitating? Did anyone in her family have heart problems? But the conversation took an unexpected turn when the doctor asked Elisabeth if her hair color and texture were natural, and if she had calluses on her hands and feet.

"The questions started to get weird," Elisabeth recalls. "I looked at my husband and thought, 'Where is he going with this?'"

When Elisabeth pointed out that her dark hair, styled straight that day, was naturally curly and she's had calluses on her feet since childhood—an affliction her mother attributed to Irish step dancing lessons—it confirmed the doctor's suspicions.

"In her case, it all fit," Dr. Lakdawala says. As he explained to Elisabeth, one gene that is responsible for those same genetic traits possibly could be linked to her heart problems. Identified as the DSP gene, it holds the instructions for making the protein desmoplakin, which is found primarily in heart and skin cells. A mutation of it is also found in patients suffering from the same heart ailment as Elisabeth.

When the DSP gene mutation showed up in Elisabeth's genetic tests, Dr. Lakdawala quickly adapted her treatment plan and suggested that other family members be tested, too, as a precaution against what could be a life-threatening condition. Dr. Kapur also implanted a defibrillator as a safety net in case her heart goes into a dangerous rhythm in the future. 

"It was really reassuring to finally have an answer," Elisabeth says. "To be put in the hands of Brigham and Women's Cardiology and have them advocate for me was just such a relief. We were so lucky to be in their care."

Zachary was equally impressed. "We walked out of those appointments feeling in good hands," he says.

Looking forward

For a young couple looking to one day start a family, two looming questions remained: Would pregnancy put a strain on Elisabeth's heart? And would she pass this gene mutation along to her children? Elisabeth and Zachary wanted to know. 

Nadine Channaoui, MS, CGC, a genetic counselor with Brigham Health and another member of Elisabeth's team, shared the first bit of good news: The 50% chance that a defective gene could be passed along to any children conceived naturally could be reduced if the couple used an implanted egg that did not contain the defect.

"I think it was empowering [for Elisabeth] to have these findings," Channaoui says. "For Elisabeth and her husband, these answers really did change their lives."

Today, Elisabeth hopes there will be a big surprise coming soon for her husband. "My dream is coming home and saying he's going to be a dad," she says.

To help that dream come true, Elisabeth is now under the care of Katherine Economy, MD, a specialist in high-risk pregnancy for women with cardiovascular issues at Brigham Health, who determined that Elisabeth should be able to carry a child and will keep her under close monitoring, should anything go awry. As part of that process, Elisabeth is now undergoing in-vitro fertilization at Brigham Health to ensure she doesn't pass along the genetic mutation to her future children.

Motherhood is one thing this persevering patient hopes will be part of her future, made possible by an attentive team of medical professionals—and a team of doctors who knew the right questions to ask.

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