Medical mystery: A college student’s collapse uncovered a frightening family legacy

The phone call that irrevocably changed the lives of Nanette Bentley and her family came at dinnertime.

A day earlier, Bentley, public relations director for a Cincinnati hospital system, and her husband, Matt, who works in financial services, had returned from parents’ weekend at Oberlin Conservatory of Music in Oberlin, Ohio, where Olivia, one of their three college-age daughters, was a sophomore.

The caller told Bentley that Olivia had just been found in full cardiac arrest and without a pulse in the stairwell of her dorm during a fire drill. A campus security officer had responded immediately, administering a defibrillator to restart her heart before she was rushed to a 25-bed hospital a half-mile away.

Olivia was alive — but unresponsive.

Numb and terrified, Bentley and her husband frantically threw a few days’ worth of clothes into a suitcase and hit the road, retracing the 220-mile drive they had made in the opposite direction the day before.

As they raced up the interstate, Olivia was airlifted to a bigger hospital in Lorain, 30 miles from Oberlin. Doctors were keeping her alive on a ventilator as they scrambled to figure out what had gone so wrong.

Olivia, admitted to the intensive care unit two hours earlier, had been placed in a near hypothermic state to reduce the chance of brain damage. Bentley remembers the shock of being told to prepare for the worst and queried about her teenager’s end-of-life wishes.

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Because of her age and location — Ohio is an epicenter of the opioid epidemic — Olivia was given Narcan, a medication used to rapidly reverse an overdose. But the drug had no effect and toxicology tests showed no sign of drug use.

An electrocardiogram, a test that measures the heart’s electrical activity, revealed nothing significant. Olivia’s ejection fraction, which measures the heart’s pumping ability, was low, not surprising, given the circumstances. There were no indications of a metabolic problem that could have triggered her dangerously irregular heartbeat.

Doctors told the Bentleys they planned to keep Olivia in a cooled state for 24 to 36 hours and then assess her brain function.

Bentley remembers trying to “stay present and not to drift into thinking of what could be.” ”

At dawn on Wednesday, Olivia began to wake up. “I remember asking, ‘Can you squeeze Daddy’s hand?’” and she did. ‘And can you squeeze my hand?’ and she did,” Bentley recalled, her voice breaking.

An electrophysiologist, a cardiologist who specializes in the treatment of heart rhythm disturbances, had quizzed Bentley about Olivia’s medical history. She reported that Olivia had fainted twice in high school, once when she encountered an ex-boyfriend at an ice cream shop and keeled over face first, cracking her front teeth before regaining consciousness in the ambulance on the way to the hospital. Because Olivia had had a seizure, doctors evaluated her for epilepsy before deciding the probable cause was dehydration. A second, less dramatic episode — during which Olivia regained consciousness after several seconds — occurred soon after the first.

Bentley told the specialist that, years earlier, she had once fainted while running track in high school. And Olivia’s older sister, Daisy, had passed out at a high school dance. In both cases the episodes were attributed to heat or lack of food.

But it was Bentley’s family history that especially piqued the doctor’s interest.

Bentley’s father, a physical education teacher in Los Angeles, had collapsed and died in 1972 while performing a gymnastics routine on parallel bars. He was 26.

An autopsy concluded that he had died of a heart attack and found evidence of two prior heart attacks that had never been diagnosed.

“What they told [my mother] was that he had atherosclerosis and high cholesterol,” recalled Bentley, an only child who was four days shy of her third birthday when her father died. As a result, she had undergone regular cholesterol checks as a child, as had Olivia and her sisters.

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The electrophysiologist, noting that the 1970s were what he dubbed “the dark ages of cardiac care,” was skeptical of that explanation. He wondered whether Bentley’s father’s sudden death resulted from an undiagnosed arrhythmia that triggered a rapid, chaotic heartbeat.

The doctors’ immediate concern was how best to treat Olivia, who had rebounded quickly. Less than 48 hours after arriving by helicopter near death, she was sitting up in bed, talking and eating.

“I really don’t remember any of it,” Olivia said of her hospitalization.

After a cardiac catheterization found no arterial blockages or abnormalities, doctors recommended that she receive an implantable cardioverter-defibrillator, a device installed in the chest that can deliver a shock if it detects an arrhythmia. Doctors thought she might have long QT syndrome, an inherited disorder affecting the heart’s electrical system, or Brugada syndrome, a rare genetic disorder that can cause an arrhythmia resulting in sudden death.

Two days after the defibrillator was implanted, she was discharged.

“I remember going to the dorm to get some clothes and getting ice cream and then driving back to Cincinnati” with her parents, she said.

Having Olivia home was both exhilarating and terrifying, Bentley remembered. “I felt blind fear. It was impossible to not worry about her all the time, that this would happen again.”

She contacted Rajinder Singh, a friend who was then an electrophysiologist at Mercy Hospital in Cincinnati, for advice about what to do next.

Singh, who now practices at Adventist Health in Marysville, Calif., outside Sacramento, ordered a treadmill test. The abnormal result suggested an uncommon arrhythmia, possibly catecholaminergic polymorphic ventricular tachycardia (CPVT), an abnormally fast, out-of-control heartbeat triggered by emotional stress or physical exertion that can be fatal.

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Half of CPVT cases are believed to result from a mutation in the RYR2 gene that provides instructions for proteins that help maintain a regular heartbeat. It is typically inherited in an autosomal dominant manner: a parent with the gene has a 50% chance of passing it on to a child. The arrhythmia is estimated to affect about 1 in 10,000 people and believed to be a major cause of sudden death in children and young adults who don’t have other abnormalities, such as an enlarged heart.

Singh recommended that Bentley and all three of her daughters undergo genetic testing.

The second epochal phone call came in January 2019 as Bentley and her daughters were leaving their hotel in New Orleans, where they had gone to celebrate the 19th birthdays of Olivia and Rosie.

Singh had received the test results: Bentley had not only inherited the RYR2 gene, she had also passed it on to all of her children.

“I felt like a cat clinging to a wall by its claws,” Bentley said of the feelings of dread and guilt that enveloped her. “I didn’t know what they were facing and I thought, ‘Are we all just ticking time bombs?’ "

Her father’s sudden death at 26, she now felt certain, was no fluke heart attack caused by clogged arteries, but an expression of the gene no one knew he had.

Bentley consulted specialists at Cincinnati Children’s Hospital Medical Center and Boston’s Beth Israel Deaconess Medical Center. She was told that none of the three needed a defibrillator unless they fainted, but that all should avoid strenuous exercise. Bentley and her daughters were prescribed beta blockers, which blunt the release of stress hormones and are used to treat arrhythmias. The Boston specialist advised everyone to be “very compulsive” about taking the drug and to undergo repeat stress tests to assess their heart rates.

The Cincinnati Children’s electrophysiologist helped assuage her fears.

“He told me the trick to this thing is knowing that you have it,” Bentley said. A genetic counselor met with her daughters to explain options in the event they choose to get pregnant.

Since the implantation of her defibrillator, Olivia has not experienced a shockable event.

Bentley said that her family’s goal is to persuade people with similar symptoms to pay attention to them.

It is a message Singh echoed.

“If a person has dizziness or palpitations while exercising or passes out, that shouldn’t be taken lightly,” he said. Before the recent advent of genetic testing, most of “these patients didn’t survive” in part because they had no idea they were at risk.

“Awareness is key, and I think schools and colleges should make people aware,” he added.

Bentley said she is grateful to Oberlin’s campus security and to the staff at both hospitals where Olivia was treated. Her daughter survived, she said, because “everyone was exactly where they should have been and did exactly what they should have done at exactly the right time.”

Olivia, now 21, who has been advised to avoid stimulants, including caffeine, as well as cardio workouts, is adjusting to her new reality.

“It’s a slow process, to accept that this is my life now,” she said.

“In some ways, this has made me way more spontaneous than I was. When you almost die at 18, it makes you realize how much you haven’t experienced.”