In 2016, Alesha started experiencing symptoms like severe nausea and syncope (fainting) – but didn’t know what could be causing them. That August, she went to the hospital for an unrelated medical procedure. She was woken up from anesthesia by her doctor, who asked, urgently, if she had any known heart issues; she said no, and was transported to the emergency room.

Alesha received cardiogenetic testing, genetic testing that specifically looks for variants that might impact the heart, and it revealed that she has a variant in the Desmin gene, which can cause a genetic heart condition due to a defect in the proteins that hold the heart muscle cells together. These proteins can be disrupted in Arrhythmogenic right ventricular cardiomyopathy (ARVC), a disease of the heart muscle, leading to areas of scar and fat deposits. This scarring can lead to abnormal heart rhythms.

Family Genetic Testing

Alesha has an identical twin – Allison – whose doctor at Vanderbilt University Medical Center suggested the genetic testing that identified both her and her sister’s ARVC mutation due to her family history, and the symptoms she was experiencing.

A genetic counselor can help you determine your and your family’s risk for inheriting genetic diseases. “Genetic testing and counseling are integral in cardiology, especially for inherited heart conditions like ARVC. Understanding one’s genetic makeup can not only aid in accurate diagnosis but also in the effective management and preventive strategies for patients and their families,” said Amy Sturm, MS, CGC, NSGC’s cardiovascular genetics expert.

Alesha and Allison aren’t the only set of twins impacted by ARVC in their family. Alesha’s sixteen-year-old fraternal twins have both also tested positive for the variant in the Desmin gene associated with ARVC, as has her sister’s son.

Listen to Your Body

Since her diagnosis, Alesha has had several ablations and a loop recorder implanted. She stresses the importance of listening to your body. “You’re the only one who truly knows what is ‘normal’ for your body, and the only one who can identify potential symptoms of a condition like this,” she says. “Conditions like this can be in your family without you always knowing about them.”

“In families with a history of genetic heart conditions, genetic testing takes on an even greater significance. Knowledge of a shared genetic risk can prompt proactive health measures across generations,” said Sturm.

As Alesha and her family navigate the challenges and revelations of their genetic journey, their story serves as a powerful reminder of the importance of being attuned to one’s own body and the potential of genetic testing in diagnosing and managing heart conditions.

If you are interested in speaking with a genetic counselor, you can find one in your area here.