Researchers at Boston Children's Hospital have created the first human tissue model of an inherited heart arrhythmia, replicating two patients’ abnormal heart rhythms in a dish, and then suppressing the arrhythmia with gene therapy in a mouse model. Their work, published in Circulation, opens the possibility of developing single-dose gene therapy treatments for inherited arrhythmias, and perhaps even more common arrhythmias, such as atrial fibrillation.

The research focused on catecholaminergic polymorphic ventricular tachycardia (CPVT), a leading cause of sudden death in children and young adults. This is typically triggered by exercise or emotional stress, and first becomes apparent as a sudden loss of consciousness.

Traditional treatment consists of drugs such as beta-blockers and flecainide, surgery to disconnect nerves innervating the left side of the heart, an implanted cardioverter-defibrillator, and minimising physical activity. These have limited success with 25% to 30% of patients having recurrent life-threatening arrhythmias.

“Our hope is to give gene therapy in a single dose that would work indefinitely,” says Vassilios Bezzerides, an attending cardiologist in the Inherited Cardiac Arrhythmias Program at Boston Children's Hospital who was involved in both studies. “Our work provides proof-of-concept for a translatable gene therapy strategy to treat an inherited cardiac arrhythmia.”