Cardiomyopathy in Friedreich’s Ataxia Detected Using an ECG

New research indicates that a complete assessment of heart function can identify cardiomyopathy in most people with Friedreich’s ataxia (FA), and that electrocardiography, especially, shows early heart abnormalities. The work, titled “The cardiomyopathy in Friedreich’s ataxia — New biomarker for staging cardiac involvement,” appeared in the International Journal of Cardiology.

FA is caused by inheriting defects in the gene for frataxin from both parents. When the protein coded by this gene is depleted, damage to the nervous system results, typically leading to a loss of coordination, diminished vision, and fatigue. Heart problems are also a common consequence, so screening for cardiac abnormalities is particularly important.

Thirty-two people with FA participated in the study, with their diagnosis confirmed by gene analysis. The researchers assessed the study participants using a resting electrocardiogram (ECG), as well as other standard tests: a 24-hour Holter-ECG, echocardiography with speckle tracking imaging, cardiac magnetic resonance imaging (cMRI) with late enhancement imaging (for replacement fibrosis), and measurement of high-sensitive troponin-T (hsTNT). They also compared images of patients’ hearts to those obtained five years earlier.

Using these assessment methods, the team came up with a method for clinically identifying heart muscle degeneration (cardiomyopathy) in people with FA. In their report, they note that “in all but two patients, a [cardiomyopathy] could be detected (94%).” Specifically, they were able to identify cardiomyopathy (CM) by evaluating the levels of high-sensitive troponin-T, fibrosis (scarring of the heart), and abnormalities using the ECG. The best method for detecting FA-related heart problems in their early stages was the ECG, which identified electrical differences in heart rhythm.

The researchers concluded, “A comprehensive cardiac assessment will unravel established CM in almost all patients with FA with electrocardiographic abnormalities as earliest signs.”

Adopting these methods in the clinic might lead to heart problems, specifically cardiomyopathy, being detected and treated earlier in FA patients. Cardiomypathy can be a life-limiting problem for people with FA, and its identification and earlier treatment could improve their quality of life.