Early heart diagnosis leads to timely transplant for man with FA
Case report highlights need for multidisciplinary approach, early heart referral
Written by |
Doctors’ early diagnosis of advanced heart failure in a man with Friedreich’s ataxia (FA) allowed for timely multidisciplinary evaluation that made heart transplant a viable and successful treatment option, according to a U.S. case report.
More than two years after surgery, the man “continues to do well, living with his family and going on vacations,” the researchers wrote.
“The neurological and cardiovascular trajectories of patients with [FA] are heterogeneous,” the researchers added. “A multidisciplinary approach and early referral for evaluation of advanced heart failure therapies are essential to optimize outcomes.”
The study, “Advanced Heart Failure in Friedreich’s Ataxia: A Story of Challenges, Opportunities, and Hope,” was published in JACC: Case Reports.
Report details 39-year-old’s experience
FA is a genetic disorder that particularly affects cells with high energy demands, such as nerve and muscle cells, leading to degeneration of the nerves involved in muscle control and muscle wasting. This results in ataxia symptoms: a lack of coordination and muscle control during voluntary movements, along with muscle weakness that can impair walking, upper limb movement, speech, and swallowing.
The disease also commonly affects the heart. Heart involvement is seen in 40% to 85% of patients, with heart disease being the leading cause of death for FA patients. In those with advanced heart failure, early evaluation is essential to identify those at risk of sudden worsening who may benefit from advanced therapies, including heart transplant.
In the case report, a team of researchers from the U.S. described a 39-year-old man with late-onset FA whose advanced heart failure was identified in time to allow consideration of a heart transplant.
The man was diagnosed with FA at age 16 and began using a wheelchair at 28. His first signs of heart involvement appeared when he developed an irregular heartbeat, atrial fibrillation, at age 20. Tests when he was 27 showed reduced heart function.
He was hospitalized repeatedly over the years for heart failure and dangerous heart rhythm disturbances that required a cardioverter-defibrillator, a device that helps restore a normal heartbeat.
He was listed for a heart transplant at 34, but later chose to be removed for personal reasons. His health continued to decline, with worsening muscle and heart function and increasing shortness of breath.
By 38, his primary cardiologist referred him for advanced heart failure therapies. After a multidisciplinary evaluation, the patient was again listed for a heart transplant and given standard heart failure medications for at-home treatment.
When he was 39, he emailed his doctors saying his symptoms had “noticeably worsened” and that his heart was “nearing the end.”
“I’m experiencing shortness of breath while resting, fatigue, and brief moments of tunnel vision, only in the mornings,” he wrote. “It isn’t every morning, but it has happened enough to note.”
This prompted urgent medical evaluation. Doctors noted that the man appeared fatigued and pale. Tests showed severe dysfunction, with an enlarged, weakened heart consistent with advanced heart failure. He was diagnosed with cardiogenic shock, a life-threatening condition in which the heart cannot pump enough blood to meet the body’s needs.
His low blood pressure made him unable to tolerate medications to stabilize his condition, so doctors inserted an intra-aortic balloon pump, a device that helps improve blood flow, while awaiting a donor heart. During this time, he developed severe muscle spasms that disrupted sleep and daily activities and were only partly relieved with medication.
On day 27, he underwent a successful heart transplant. Recovery was steady. A brief episode of transplant rejection was successfully treated, and he was discharged to rehabilitation about six weeks later. After two weeks of acute rehabilitation, which included physical, occupational, and speech therapy, he returned home.
Within five months, his breathing improved, and he was able to carry out daily activities with fewer limitations. One year after the transplant, he started treatment with Skyclarys (omaveloxolone).
More than two years after the transplant, the man remains stable and has had no hospitalizations. His shortness of breath, feelings of impending doom, and visual abnormalities resolved. Painful muscle spasms also eased, while motor limitations related to ataxia remained stable.
“Heart failure is the leading cause of death in patients with [FA],” the researchers wrote. “For those with high-risk features for adverse cardiovascular outcomes, careful monitoring of disease progression and early evaluation for advanced heart failure therapies are warranted.”
The team emphasized the importance of distinguishing disability from frailty, a clinical syndrome characterized by a decline in multiple systems, when considering patients for advanced heart failure therapies. Disability, or difficulty performing daily activities owing to physical or health problems, should not exclude someone from receiving advanced therapies, they said.
