Michael Gollob's study explains how genetic mutations lead to an inherited heart condition linked to sudden death

An international team of researchers co-led by University of Toronto professor Michael Gollob has uncovered the mechanism driving a unique form of short QT syndrome, an inherited condition that can cause sudden cardiac death in otherwise healthy young individuals.

The study, published recently in the European Heart Journal, provides an explanation for how genetic mutations in the SLC4A3 gene can lead to this uncommon heart condition.

“Short QT syndrome is an electrical condition of the heart that has nothing to do with cholesterol, blood pressure or blocked arteries,” says Gollob, who is an associate professor of physiology and medicine at U of T’s Temerty Faculty of Medicine.

“It’s a genetic condition that can make the heart vulnerable to a dangerous arrhythmia, and many people do not know they have it until suddenly, a tragedy occurs.”

He estimates that short QT syndrome, which was first described in 2003, affects roughly one in 20,000 people.