Illustration of a heart showing thickened cardiac muscle

Hypertrophic cardiomyopathy—a heart condition that affects one in every 300 people—can put even fit young people at risk of sudden cardiac death, often with no prior symptoms. A comprehensive multiyear international study is helping to identify the disease before it strikes.

In a recently published paper, researchers reported that initial data suggests that the majority of patients with HCM can be divided into two broad categories, based on factors such as whether they had an identifiable genetic mutation or scarring in the heart. 

While HCM is the most common genetic heart disease, it often goes undiagnosed, explains UVA cardiologist Dr. Christopher Kramer, a co-principal investigator on the study. “Anything we can do to categorize patients into groups, so we understand how to treat them, will help.”

HCM is characterized by an abnormal thickening of one or more walls of the heart. And while some people can live their entire lives with HCM without significant problems, its complications can include heart failure as well as a potentially fatal very fast heart rhythm. “It is the No. 1 cause of sudden cardiac death in young athletes,” Kramer says. 

In the ongoing study, which involves more than 2,700 HCM patients, researchers are gathering extensive data, including cardiac MRI and genetic testing, on each individual. By the end of the study, researchers hope to build from that data a smartphone-based tool that cardiologists can use to create accurate risk profiles for their HCM patients for the most effective treatment.