Friedreich’s ataxia and advanced heart failure: An ethical conundrum in decision-making

Ivák, Peter; Zumrová, Alena; Netuka, Ivan

doi:10.1016/j.healun.2016.06.021

Cited by 4 publications

(8 citation statements)

References 9 publications

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“…The three patients in this series add to the literature of four previously reported heart transplants in patients with heart failure and FRDA [11][12][13][14]. Here, though, the individuals have been followed since their transplant for extended periods of time.…”

Section: Discussionmentioning

confidence: 87%

“…Currently, there is no known cure for FRDA cardiomyopathy and much controversy surrounds the design and implementation of appropriate therapeutic intervention, with little standardization in this population [11]. Four previous case reports demonstrate the short-term success of cardiac transplantation in abating life-threatening cardiomyopathy [11][12][13][14]. In this paper, we describe three additional patients with mild-to-moderate neurologic disease but severe cardiac dysfunction who subsequently underwent successful cardiac transplantation.…”

Section: Introductionmentioning

confidence: 92%

Section: Introductionmentioning

confidence: 99%

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Cardiac transplantation in Friedreich Ataxia: Extended follow-up

McCormick

Shinnick

Schadt

et al. 2017

Journal of the Neurological Sciences

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Friedreich Ataxia (FRDA) is an autosomal recessive neurodegenerative disorder most commonly caused by guanine-adenine-adenine (GAA) trinucleotide repeat expansions in both alleles of the FXN gene. Although progressive ataxia remains the hallmark clinical feature, patients with FRDA are at high risk of developing cardiomyopathy, often resulting in premature death. There is no specific treatment for FRDA-associated cardiomyopathy; even in advanced cardiac failure cardiac transplantation is not commonly pursued. This case series describes extended follow-up of three FRDA cases with end-stage heart failure but mild neurologic disease who underwent successful heart transplantation. We also review and examine the ethical considerations for heart transplantation in the setting of neurodegenerative disease.

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Section: Discussionmentioning

confidence: 87%

Section: Introductionmentioning

confidence: 92%

Section: Introductionmentioning

confidence: 99%

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Cardiac transplantation in Friedreich Ataxia: Extended follow-up

McCormick

Shinnick

Schadt

et al. 2017

Journal of the Neurological Sciences

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“…For those FRDA patients who progress to overt heart failure, their candidacy for advanced heart failure therapies should be carefully considered in the context of their individual well-being and non-cardiac quality of life. 54 , 56 There are multiple published reports of individuals with FRDA who have undergone advanced heart failure therapies such as ventricular assist device implantation and heart transplantation with positive outcomes. 56–62 …”

Section: Specific Care Aspectsmentioning

confidence: 99%

“… 54 , 56 There are multiple published reports of individuals with FRDA who have undergone advanced heart failure therapies such as ventricular assist device implantation and heart transplantation with positive outcomes. 56–62 …”

Section: Specific Care Aspectsmentioning

confidence: 99%

Friedreich Ataxia: Multidisciplinary Clinical Care

Lynch¹,

Schadt²,

Kichula³

et al. 2021

JMDH

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Friedreich ataxia (FRDA) is a multisystem disorder affecting 1 in 50,000–100,000 person in the United States. Traditionally viewed as a neurodegenerative disease, FRDA patients also develop cardiomyopathy, scoliosis, diabetes and other manifestation. Although it usually presents in childhood, it continues throughout life, thus requiring expertise from both pediatric and adult subspecialist in order to provide optimal management. The phenotype of FRDA is unique, giving rise to specific loss of neuronal pathways, a unique form of cardiomyopathy with early hypertrophy and later fibrosis, and diabetes incorporating components of both type I and type II disease. Vision loss, hearing loss, urinary dysfunction and depression also occur in FRDA. Many agents are reaching Phase III trials; if successful, these will provide a variety of new treatments for FRDA that will require many specialists who are not familiar with FRDA to provide clinical therapy. This review provides a summary of the diverse manifestation of FRDA, existing symptomatic therapies, and approaches for integrative care for future therapy in FRDA.

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