Heart Transplant Viable Long-Term Option for Friedreich’s Ataxia Patients, Case Studies Suggest

A heart transplant could be a viable long-term option for Friedreich’s ataxia (FA) patients, as suggested by the cases of three patients who remained cognitively intact and socially engaged following that operation.

The results of the case series were published in the Journal of the Neurological Sciences in a report titled “Cardiac transplantation in Friedreich Ataxia: Extended follow-up”.

The team led by David Lynch, MD, PhD, of the Department of Pediatrics and Neurology at The Children’s Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania in Philadelphia, described the case of three FA patients who underwent heart transplants.

The first patient was diagnosed with FRDA when he was 12 years old, seven years after undergoing a heart transplant. When he was five years old, the patient had severe inflammation of the heart muscle. While he was waiting for a heart transplant his heart stopped beating and required resuscitation. He then received a heart transplant. Following the operation he experienced a stroke, followed by difficulties with speech, walking and vision. Because the patient had a sibling with FA he was genetically tested and also diagnosed with the condition. According to the authors, he currently is using a wheelchair and requires assistance with many daily activities, but his heart function has remained stable for 19 years.

The second patient was a 42-year-old man who was diagnosed with FA when he was 24. His symptoms started with balance difficulties and increased dizziness. He later developed shortness of breath, which could be related to heart muscle disease. When he was 27, he experienced heart failure and received a heart defibrillator implant at age 33. However, his heart condition worsened with time and he needed a heart transplant at age 37. The authors reported that following an episode of transplant rejection, which was treated with steroids, his heart function remains stable five years after the transplant.

The third patient developed neurological symptoms of FA, which included dizziness, uncontrollable shaking of the head, and a loss of balance, when she was 26 years old. When she was 31, the patient reported to a hospital with shortness of breath, and tachycardia and was diagnosed with dilated cardiomyopathy, a heart condition where the ability of the heart to pump blood is decreased. The patient was diagnosed with FA when she was 34. Between the ages of 34 and 37 her heart condition worsened and at the age of 37 she required the implantation of a heart defibrillator and a heart transplant within months following that. Although the patient’s ataxia worsened over the years, her heart function remains stable eight years following the heart transplant.

The authors concluded that the cases described in the report demonstrate the safety and effectiveness of heart transplants as a possible treatment option for end-stage heart failure in both early- and late-onset FA.