The objective of the study was to evaluate the severity of cardiomyopathy in Friedreich’s ataxia (FRDA) patients and to assess whether there was a gender difference.

The most common cause of death in FRDA patients is cardiac failure. Cardiac MRI has been demonstrated to be a more sensitive measure in the cardiovascular assessment of FRDA patients; however, studies using cardiac MRI are limited. Additionally, these studies have not evaluated the role of sex in the development of cardiomyopathy in these patients.

This study was a retrospective cohort study that consisted of 35 genetically confirmed adult patients (19 males and 16 females) followed in the UT Southwestern Neuromuscular Clinic with 14 of the patients (8 males and 6 females) having undergone extensive cardiovascular assessment. Variables collected include demographics, cardiovascular data, and neurologic parameters, which were measured in median and interquartile ranges.

The median age of males and females was 26 years (21-36) and 30 years (20-38) respectively. The study revealed 57% of patients with late gadolinium enhancement (a marker of myocardial fibrosis) and 93% of patients with abnormal ECG findings, consistent with prior studies. FRDA patients who underwent cardiac MRI (n=14) showed an increased interventricular septum diameter in females 1.5 cm (0.8-1.9) vs. males 1.0 cm (0.9-1.1), suggestive of hypertrophic obstructive cardiomyopathy. The LV ejection fraction in males [52%(41-64)] was lower than in females [73%(69-73)]. The LVEDV index in males [69.5(62.4-81.2)] was higher than in females [58.3(46.5-63.1)].

Collectively, the current study revealed female FRDA patients are more prone to developing hypertrophic obstructive cardiomyopathy, while male FRDA patients develop dilated cardiomyopathy with depressed cardiac function. Future studies are focused on further defining the cardiovascular gender differences in order to better define the type of cardiomyopathy that develops in FRDA patients and thus initiate targeted medical therapies at an earlier age.