Young Woman's Silent Heart Attacks Spark Rare Gene Discovery

In her early twenties, a woman's life took a drastic turn with a mysterious tingling in her arm, leading to a diagnosis of a heart attack at just 24 years old. This occurred while she was four weeks pregnant, complicating diagnostic procedures and leading to a period of hospitalization. Doctors eventually identified dilated cardiomyopathy, a condition where the heart enlarges and struggles to pump blood effectively.

Throughout her pregnancy, she faced chest pain and further cardiac events, including another symptomless heart attack. Doctors determined that continuing the pregnancy posed a significant risk, leading to the early delivery of her son at 32 weeks in May 2016. Subsequently, she received an implantable cardioverter-defibrillator to manage dangerous heart rhythms.

Several years later, in June 2022, her defibrillator repeatedly activated, indicating supraventricular tachycardia, an abnormally fast heart rhythm. This led to the device being replaced with a combination pacemaker and defibrillator. Despite these interventions, her condition worsened, with her heart's ejection fraction dropping to 18 percent.

Genetic testing in 2024 revealed a rare inherited FLNC gene variant, responsible for weakening and scarring heart muscle. This discovery explained the origin of her condition and its incurability, also indicating a 50 percent chance her children might carry the variant. By March 2026, she was placed on the heart transplant list.

Now 35, her quality of life is severely impacted by fatigue, dizziness, brain fog, and chest pain, forcing her to stop working. She now waits for the call that could save her life, highlighting the widespread lack of awareness surrounding heart disease.