Serial assessment of echocardiographic measures in Friedreich ataxia

David R. Lynch, Medina Keita, Katherine Gunther, Courtney Park, Kimberly Schadt, Laura Mercer Rosa, Kimberly Y. Lin, Serial assessment of echocardiographic measures in Friedreich ataxia, American Heart Journal Plus: Cardiology Research and Practice, 2026, 100869, ISSN 2666-6022, doi:10.1016/j.ahjo.2026.100869. 

Overall, FRDA hearts initially showed mild hypertrophy with normal systolic function, and a decrease in systolic function up to 30 years later in the disease course. Markers of maximal hypertrophy, in particular septal wall thickness (IVSTd), moderately correlated with genetic severity (GAA1). GAA1 values predicted later stage cardiac disease manifestations in FRDA (presence of arrhythmias, decreases in ejection fraction to less than 50%). Among echocardiographic parameters, early elevations in septal and posterior wall thickness and a hyperdynamic ejection fraction predicted later adverse outcomes including arrhythmias, decreases in ejection fraction, and death.