Jeans or Genes?

In 2019, my brother underwent genetic testing focused on heart-related genes. With our family history—our maternal grandfather having died of a heart attack at a similar age, my mother living with a Left Ventricular Assist Device (LVAD), and my own heart issues—it was likely that heart disease was a genetic concern in our family. The results confirmed: one of the heart genes tested positive.

Following my brother’s findings, my mother and her siblings also underwent genetic testing. My mom, the middle of three sisters with a younger brother, tested positive for the same gene. Interestingly, while my mother’s two sisters also tested positive, neither of them has shown any symptoms of heart disease. My mother, however, has lived with heart disease for many years, and the LVAD has been crucial to her survival.

My siblings and I also decided to undergo genetic testing.  While my two older siblings tested negative, both my two younger siblings and I tested positive for the same gene mutation as our mother.

During this time, my brother asked for the records from my last cardiology appointment as he delved deeper into our family’s health history. I had been living with cardiomyopathy for 14 years, going about my daily life without fully grasping the gravity of my diagnosis. 

Genetic testing has provided clarity on the heart disease that runs in our family. In my  immediate family, my mom and three of my siblings tested positive for the FLNC mutation—Filamin C Truncation Mutations—which is associated with arrhythmogenic dilated cardiomyopathy. This mutation increases the risk of life-threatening ventricular arrhythmias.

Now, my family is participating in a study in Colorado, hoping to learn more and contribute to the understanding of this condition.