Advanced Heart Failure in Friedreich's Ataxia: A Story of Challenges, Opportunities, and Hope.

BACKGROUND

Heart failure is one of the leading causes of death in patients with Friedreich's ataxia (FRDA).

CASE SUMMARY: We report a 39-year-old man with late-onset FRDA and advanced heart failure who presented with cardiogenic shock and underwent heart transplantation after being supported with an axillary intra-aortic balloon pump for 24 days. At 2.5 years of follow-up, he remains ambulatory, lives at home, and has had no readmissions. One year after heart transplantation, omaveloxolone treatment was initiated.

DISCUSSION: Ambulatory diagnosis of stage D heart failure in a patient with FRDA facilitated a timely multi-institutional and multidisciplinary evaluation that made heart transplantation a treatment option. Heart replacement therapy enabled the initiation of omaveloxolone.

TAKE-HOME MESSAGES: The neurological and cardiovascular trajectories of patients with FRDA are heterogeneous. A multidisciplinary approach and early referral for evaluation of advanced heart failure therapies are essential to optimize outcomes.