Jessica was nine years old when she first told her mom, an ER nurse, “Something’s wrong with my heart.”
She could hear it skipping beats at night. Doctors diagnosed premature ventricular contractions (PVCs) and reassured the family that it was a “normal abnormality.” Jessica went on to become an athlete – track, soccer, martial arts – pushing through episodes of fainting and worsening symptoms that were eventually labeled panic attacks.
But in her twenties, everything changed. She went to the emergency room exhausted, short of breath, and barely able to stay awake. When an EKG was performed, she was in sustained ventricular tachycardia.
What followed was a whirlwind: MRIs, echocardiograms, and more testing. One doctor told her mother that Jessica had “heart cancer – something he said he had never seen before”. Eventually, the label became “idiopathic cardiomyopathy.” She was started on beta-blockers and told the medications would fix it.
Years later, she survived a sudden cardiac arrest while hiking. She received an ICD. But still, no one could give her answers for her cardiac symptoms.
The First Genetic Test: No Clear Answer
When Jessica and her husband began thinking about starting a family, she pursued genetic testing. Given her history of life-threatening arrhythmias, an inherited cardiomyopathy condition seemed possible.
The results were negative.
“I remember thinking, okay, I guess we just don’t know,” she says.
Her daughters were followed by pediatric cardiology because of Jessica’s history, but without a genetic explanation, ongoing care and cardiac screening was based on Jessica’s history alone.
Five Years Later: A Second Look
A pediatric electrophysiologist later reviewed Jessica’s cardiac imaging and suspected Arrhythmogenic Cardiomyopathy (ACM), a genetic cardiomyopathy that can cause areas of scar, inflammation, and fat deposits in the heart, leading to life-threatening arrhythmias.
He recommended repeat genetic testing.
“It had only been five years since my last test,” Jessica says. “I couldn’t believe that in that time, they might actually find something.”
This time, testing identified a pathogenic variant in PKP2, one of the most common genetic causes of ACM. For the first time, Jessica had a precise diagnosis and knew the underlying genetic cause of these terrifying episodes.
What the Genetic Answer Changed
Having a concrete genetic answer immediately changed her daughters’ care.
Both girls tested positive for PKP2 related ACM. One has already developed arrhythmias and now has a loop recorder and medical therapy in place. Instead of waiting for symptoms to escalate, their care team can monitor and intervene more proactively based on the literature for PKP2.
For Jessica, the diagnosis was both validating and sobering.
“For years, I felt like I had to convince people that something was wrong. Having a genetic answer didn’t erase what happened, but it finally made sense.”
The Role of Genetic Counseling
Repeat testing was not just about sending another blood sample. It required understanding what had changed in five years – new gene discoveries, improved variant interpretation, and growing knowledge about ACM.
“Genetic testing is constantly improving and evolving,” said NSGC Cardiovascular Genetics Expert Cara Barnett, MS, LGC. “For patients with heart conditions, some of the genes included on today’s tests weren’t known five years ago. If you previously had genetic testing that was negative or inconclusive, it’s a good idea to check in with your genetics team every few years to see if updated testing could provide new answers.”
Genetic counselors help families navigate complex decisions, such as when to retest, what a positive genetic test result means, and the implications for each member of an affected family.
In Jessica’s case, genetic confirmation also informed critical future care. Her ACM progressed aggressively, ultimately requiring heart transplantation. Today, she is back to riding endurance horse races – something she could not do before the transplant.
But the genetic story continues in her daughters.
“Negative Doesn’t Mean ‘No Disease’”
Jessica’s journey highlights an important reality: a negative genetic test result is not always the end of the story, nor does it rule out a familial genetic condition like ACM.
In inherited cardiomyopathies and arrhythmia syndromes, knowledge evolves rapidly. Re-evaluation can yield new answers, which can directly impact medical management for both patients and their families.
For Jessica, five years made the difference.
“Science caught up to my heart,” she says. “And because of that, my daughters have a head start I never did. I will always be grateful for the answers genetic testing has given my daughters.”
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