A new MRI technique has been shown to be able to detect Fabry disease, a genetic condition that can result in fatal heart problems, according to a study published in the September issue of Circulation: Cardiovascular Imaging.
The technique, T1 mapping, can detect microscopic changes and damage in the heart muscle at an early stage. It can be programmed into nearly any MRI scanner, according to Gavin Oudit, MD, PhD, of the University of Alberta in Canada, and colleagues.
Fabry disease, which affects one in 1,500 to 3,000 people, destroys the enzyme involved in fat metabolism, and those with the condition accumulate fat deposits in their heart, kidneys and brain. This can result in heart failure, thickened walls of the heart, blackouts and a number of other negative symptoms. It can be treated, however, using enzyme replacement therapy that prevents serious damage to the heart if caught early enough.
To assess the use of T1 mapping in identifying Fabry disease, Oudit and colleagues studied 75 individuals: 31 Fabry disease patients, 21 subjects with concentric remodeling or hypertrophy and 23 healthy controls. All subjects underwent cardiovascular MRI.
Results showed that those with Fabry disease, concentric remodeling or hypertrophy had similarly increased mass, wall thickness and mass/volume. However, T1 volumes set the groups apart. Noncontrast myocardial T1 values were substantially lower in the Fabry disease group compared with controls and the concentric remodeling or hypertrophy group, at 1,070, 1,177 and 1,207 ms, respectively.
“Reduced noncontrast myocardial T1 values are the most sensitive and specific cardiovascular MRI parameter in patients with [Fabry disease] irrespective of sex and [left ventricular] morphology and function,” wrote Oudit and colleagues.