Elisabeth's Story: Solving the Mystery of a Genetic Heart Condition

Brigham team evaluates potential causes of arrhythmias

Elisabeth moved back to her home state of Massachusetts in 2017. She was referred to Brigham and Women’s Hospital and hoped the doctors could solve her health mystery after years of seeking answers.

Sunil Kapur, MD, a Mass General Brigham electrophysiologist, reviewed a new MRI that showed existing scar tissue in her heart had increased. This meant the scar tissue wasn’t related to a childhood illness. A new EKG showed her abnormal heartbeats were getting worse. Dr. Kapur performed an ablation, a procedure that uses heat or intense cold to destroy very small areas of heart tissue. Destroying this tissue can help restore a normal heart rhythm.

Dr. Kapur also referred her to Neal Lakdawala, MD, a Mass General Brigham cardiologist with expertise in cardiovascular genetics.

Unlikely clues: DSP gene linked to heart condition

Dr. Lakdawala asked Elisabeth questions about her medical history. He also asked if her hair color and texture were natural. And if she had calluses on her hands and feet.

Elisabeth confirmed her hair was naturally curly and she'd had calluses on her feet dating back to Irish step dancing lessons in childhood.

Dr. Lakdawala explained that a DSP gene helps the body make desmoplakin, a protein in heart and skin cells. Patients with Elisabeth’s heart condition have a DSP gene mutation (change) that also can cause curly hair and calluses.

A lifesaving diagnosis: Arrhythmogenic cardiomyopathy

Genetic testing validated Dr. Lakdawala’s concerns: Elisabeth had the DSP gene mutation. He further tailored her care with this new information and Dr. Kapur implanted a defibrillator. A defibrillator is a device that detects arrhythmia and sends an electrical shock to the heart to change the rhythm back to normal.

“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.”

Genetic testing for a healthy pregnancy

Elisabeth had hoped to start a family. She wondered if pregnancy would strain her heart, and whether she may pass the DSP mutation to her children.

Nadine Channaoui, MS, CGC, a Mass General Brigham genetic counselor, and Dr. Lakdawala explained that there would be a 50 percent chance of passing the genetic mutation to a child. Elisabeth could reduce the chances of passing the genetic mutation by using an implanted egg that did not contain the defect. Given the strong genetic link, Dr. Lakdawala also recommended testing for her immediate family members. 

He referred Elisabeth to Katherine Economy, MD, a Mass General Brigham maternal-fetal medicine specialist. The Division of Maternal-Fetal Medicine at the Brigham offers high-risk pregnancy care with a patient and family-centered focus. And in collaboration with the Brigham’s Center for Cardiac Disease and Pregnancy, a team of experts created a plan for in vitro fertilization (IVF). They followed Elisabeth’s pregnancy closely and provided very careful and coordinated care during labor and delivery. Elisabeth’s daughter Amelia was born healthy.

“Dr. Lakdawala now sees another member of my family and is keeping an eye out for any other family members who could potentially have the same genetic condition,” says Elisabeth. It’s nice to know that it’s not just my doctor taking care of me, it’s a team of doctors taking care of my whole family.”

Navigating a second pregnancy and heart failure

Following Amelia’s birth, Elisabeth had a second spontaneous pregnancy. She underwent genetic testing at the Brigham and learned the baby did not carry the DSP gene mutation. The Brigham team, led by Drs. Economy and Lakdawala, again monitored Elisabeth’s pregnancy closely for complications and tailored care to her condition.

Elisabeth developed heart failure at the end of her pregnancy and had to be induced because of it. “We urgently pulled together teams from maternal-fetal medicine, anesthesia, cardiology, and nursing to quickly care for Elisabeth and bring Mackenzie safely into the world,” explains Dr. Economy.

“It was incredibly scary, but I was once again in the best hands possible for my delivery,” Elisabeth says. “I’m extremely lucky and grateful to have my little miracle Mackenzie!”

Thriving as a mother of two

After overcoming many health challenges, Elisabeth’s experiences have only deepened her commitment to wellness. With Dr. Lakdawala’s support, she’s now active at CrossFit, working to improve her strength and endurance.