A Twin’s Tale: The Critical Role of Genetic Testing and Knowing Your Family Health History in Managing Heart Health

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.