Living with a heart-stopping genetic condition: Dana’s story

When Dana Crothers was diagnosed at age 15 with long QT syndrome (LQTS) — a life-threatening, genetic cardiac condition caused by an abnormality in the heart’s electrical system — she and her family were concerned about her future. Under the expert care of Main Line Health cardiologist Maribel Hernández, MD, for the past 20 years, Dana, now age 44, has found long-term stability and is enjoying a thriving life.

Dana first experienced symptoms after an early morning tennis practice with her high school team. A fainting spell prompted a trip to the emergency department (ED), followed by a second fainting spell and another ED visit two days later. Dana was treated for dehydration, while additional tests were inconclusive. During a follow-up appointment with her primary care physician, Dana fainted again, leading to immediate hospitalization. Several electrocardiograms (EKGs) revealed a conclusive diagnosis of LQTS.

Dana’s parents sought out the top expert at Children’s Hospital of Philadelphia (CHOP), who placed Dana on a beta blocker — a common treatment for LQTS that prevents the heart from beating faster in response to physical or emotional stress.

“Learning I had long QT syndrome was difficult for me and for my family, although my parents tried not to show their concern,” says Dana. “Suddenly, I wasn’t allowed to do anything that causes an adrenaline rush, such as competitive sports and amusement park rides. I had to avoid alarm clocks, doorbells — essentially any unexpected noises that might cause my heart to race and trigger an arrhythmia.”

Understanding long QT syndrome

“Long QT syndrome is caused by a genetic mutation at the cellular level,” explains Dr. Hernández, a cardiac electrophysiology specialist and Medical Director of Main Line Health’s Women’s Heart Initiative. “Structurally, the heart is normal, but the mechanisms that enable it to beat properly are faulty, which can lead to dangerous rhythms that cause cardiac arrest.”

The term “long QT” refers to an abnormal interval within the pattern of electrical waves measured in an EKG. Fainting is a common symptom, especially during times of physical or emotional stress. For approximately one in 10 individuals with LQTS, the first and only sign of this condition is cardiac arrest and sudden death.

LQTS is typically inherited, though it can be medication induced. In Dana’s case, the genetic mutation came from her father’s side of the family. Dana underwent genetic testing and some of her family members have since chosen to undergo testing as well, which is strongly recommended in such cases. Other family members have chosen to take precautions, such as yearly EKGs and the avoidance of certain medications.

Navigating a life-threatening condition

At age 22, while in her parents’ basement working on a college paper late at night, Dana fainted. She awoke briefly in the early morning, somehow mustering enough will to crawl to her father’s desk and use his office line to call the landline. Rushing to the basement, her father performed cardiopulmonary resuscitation (CPR) while her mother dialed 911.

Dana’s heart would stop multiple times in the ambulance, requiring defibrillation shocks each time. This continued during the ambulance ride to a second hospital to get the lifesaving care she needed. Dana was rushed into the cardiac catheterization lab, experiencing multiple cardiac arrests as the medical team continually revived her with shocks and, ultimately, implanted a cardiac defibrillator (ICD).

ICDs apply an electric charge to restore normal heart rhythm when an abnormal rhythm is detected. The procedure requires a small incision in the chest, where the device is placed and connected to the heart with wires. ICDs monitor the heart’s electrical activity 24/7, regulate heart rhythm and rate as needed, and share real-time data with the patient and their cardiology team.

Dana remained on beta blockers and continued with regular blood tests to monitor her electrolytes and other critical levels.

“I had a lot of anxiety about experiencing another sudden cardiac arrest (SCA), especially when I was alone,” recalls Dana. “It was very difficult to have my life split into a before and after. There’s a deep sense of grief that comes with that. I had so many unanswered questions. It was an incredibly stressful time, and I had to work through those emotions and still do. Post Traumatic Stress Disorder (PTSD) wasn’t widely discussed then, and I wasn’t diagnosed until years later. I strongly advocate for mental health care after unexpected events like this because it’s such an important part of overall wellness.”

It was in 2004 that Dana moved her cardiology care to Dr. Hernández. She had outgrown her pediatric care at CHOP.

“From my first appointment with Dr. Hernández, I knew she was the doctor who would manage my care, advocate for me and help me advocate for myself,” says Dana. “Dr. Hernández quickly determined that my QT interval is highly affected by electrolyte depletion and adjusted my beta blocker dosage accordingly. She answered my questions, reassured me and helped me believe I would be okay. Her dedication to finding the best solutions and her unwavering support over two decades of challenges and triumphs mean the world to me. I’m deeply grateful to have her as my doctor.”

Building a family

When Dana and her husband Kenny discussed starting a family, they had to consider the likelihood their child would inherit LQTS. Dana had numerous discussions about it with Dr. Hernández.

“We knew we wanted children,” says Dana. “My cardiac condition was well-managed, and I knew it would continue to be throughout my pregnancy and beyond. It didn’t stop me from moving forward. If our child had LQTS, we knew that we had excellent resources to guide us.”

Dr. Hernández collaborated closely with Dana’s obstetrician, Rudolf Laveran, MD, to develop a care plan for her pregnancy and delivery.

“Dana’s pregnancy was considered high-risk, as her fetus could develop the same congenital cardiac abnormality,” explains Dr. Laveran. “We significantly enhanced Dana’s surveillance, incorporating tests such as a fetal echocardiogram with our maternal fetal medicine team — our high-risk experts.”

Welcoming Connor

Dana was scheduled for a cesarean section (C-section) in December, ensuring a controlled environment where both Dr. Hernández and Dr. Laveran would be present. Because of the medical instrumentation involved during the procedure, Dana’s ICD would need to be temporarily turned off, so as not to pick up any electrical current and deliver an inappropriate shock.

On Thanksgiving, at 34 weeks pregnant, Dana was unexpectedly admitted to Lankenau Medical Center with low amniotic fluid and needed an immediate C-section. While watching the Thanksgiving Day parade with her husband, she recalls Dr. Laveran coming in on his day off to perform the surgery because she was feeling anxious. He calmly explained what to expect and offered continual reassurance that everything would be fine. Once in the operating room, Dr. Hernández, at the airport preparing to board a plane, stayed on the telephone line to help guide the electrophysiologist on call.

Both Dana and her new baby boy, Connor, came through with flying colors. Given Connor’s genetic predisposition for LQTS, he would undergo tests at CHOP , which revealed he did inherit the condition. He has been on a beta blocker since he was eight weeks old. Now age 14, Connor remains stable and is followed by an electrophysiologist.

Living life to the fullest

“Now that Connor is older, he understands his LQTS,” says Dana. “He has a positive outlook and isn’t scared. He knows my story, and we have open, honest conversations, which are so important. He focuses on what he can do, and that list is much longer than his restrictions. He’s living a normal childhood, and we’re incredibly grateful for that.”

The family keeps an automated external defibrillator (AED) at home, and Dana pushed relentlessly for Connor’s school to have AEDs one onsite. Dana and Kenny donated a second AED to ensure quick access on both stories of the school in case of an emergency. Dana also met with school administrators to arrange CPR training for teachers and staff, as it is not currently required by Pennsylvania state law.

“The importance of CPR/AED training absolutely cannot be understated,” Dana says. “Just by sharing my story, I’m undeniable proof of the lifesaving benefits. I’m advocating not only for my child, but for every child and adult in this school and on the sports fields. SCA can happen to anyone at any time. I pray every day those AEDs aren’t needed.”

Dana and Connor are both doing extremely well. Their tightknit family of three cherishes every moment, spending time with friends and family, traveling, relaxing at their beach house and participating in the many community activities offered in their hometown of Media.

“Family is our greatest gift,” says Dana. “Connor is our everything and he is such an amazing kid. We’re all very blessed to have one another and our support system of friends and family. I could not be more grateful to Dr. Hernández, Dr. Laveran and everyone at Main Line Health.”

Next Steps:

Make an appointment with Maribel Hernández, MD
Make an appointment with Rudolf Laveran, MD
Learn more about heart and vascular care
Learn more about cardiovascular genetics and risk assessment