Short report: Friedreich's ataxia presenting after cardiac transplantation

Leonard, H; Forsyth, Ramses

doi:10.1136/adc.84.2.167

Cited by 28 publications

(26 citation statements)

References 18 publications

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“…Approximately five transplantation cases have been reported in the literature, with the first dating to 2001 [43]. As reported, all the patients did well with their transplant.…”

Section: Treatment Considerationsmentioning

confidence: 81%

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Cardiomyopathy of Friedreich’s Ataxia: Use of Mouse Models to Understand Human Disease and Guide Therapeutic Development

2011

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Friedreich’s ataxia is a multisystem disorder of mitochondrial function affecting primarily the heart and brain. Patients experience a severe cardiomyopathy that can progress to heart failure and death. Although the gene defect is known, the precise function of the deficient mitochondrial protein, frataxin, is not known and limits therapeutic development. Animal models have been valuable for understanding the basic events of this disease. A significant need exists to focus greater attention on the heart disease in Friedreich’s ataxia, to understand its long-term outcome, and to develop new therapeutic strategies using existing medications and approaches. This review discusses some key features of the cardiomyopathy in Friedreich’s ataxia and potential therapeutic developments.

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“…Approximately five transplantation cases have been reported in the literature, with the first dating to 2001 [43]. As reported, all the patients did well with their transplant.…”

Section: Treatment Considerationsmentioning

confidence: 81%

“…For example, a hypertrophic heart can be the initial finding, resulting even in transplantation before the diagnosis of FA [43], whereas other patients may not manifest cardiac symptoms. Findings have shown significantly less myocardial energy generation in FA patients than in control subjects.…”

Section: Clinical Cardiac Findings In Famentioning

confidence: 99%

Cardiomyopathy of Friedreich’s Ataxia: Use of Mouse Models to Understand Human Disease and Guide Therapeutic Development

2011

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“…It has been reported in the literature at least twice before, and the authors are aware of at least five other individuals who have received cardiac transplants [92,93]. However, in some situations, the individuals who were transplanted have developed end-stage heart failure before being diagnosed with FRDA, and the other individuals have most commonly carried shorter GAA repeat lengths (and less severe ataxia); some of this latter group are likely to have had cardiac failure from causes unrelated to FRDA.…”

Section: Advanced Cardiac Care In Frdamentioning

confidence: 89%

Management and therapy for cardiomyopathy in Friedreich’s ataxia

Lynch

Regner

Schadt

et al. 2012

Expert Review of Cardiovascular Therapy

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The autosomal-recessive disorder Friedreich's ataxia is characterized by progressive ataxia, often in association with cardiomyopathy. The most frequent cause of death is cardiac dysfunction, reflecting congestive heart failure, ventricular arrhythmias and cardio-embolic stroke. With the discovery of the underlying genetic mutation, a variety of novel therapies are now progressing into clinical trials. Consequently, it is crucial to understand the features of cardiomyopathy in this disease and how new treatments may improve cardiac function. The present artcle reviews the molecular basis of the disease, the clinical features of cardiomyopathy in Friedreich's ataxia and the upcoming therapies.

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“…The presentation of FA may vary significantly including involvement primarily of fine motor movements and gait with unsteady posture, frequent falling, and progressive difficulties with ambulation [3]. PSF for the treatment of progressive scoliosis is necessary in up to onethird of patients with FA [4].…”

Section: Discussionmentioning

confidence: 99%

Perioperative Management of an Adolescent With Friedreich’s Ataxia and Hypertrophic Cardiomyopathy

Kamata

2014

J Med Cases

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Friedreich's ataxia (FA) is an autosomal recessive neurodegenerative disorder with an incidence of 1:50,000 which usually presents during adolescents. Given the progressive neurologic involvement, surgical intervention is frequently required for correction of orthopedic sequelae including scoliosis. Associated co-morbid conditions including hypertrophic cardiomyopathy, restrictive lung disease, and diabetes mellitus may impact the perioperative care of such patients. We present a 14-year-old girl with FA presenting for posterior spinal fusion for the treatment of scoliosis. The perioperative management of such patients is discussed.

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Short report: Friedreich's ataxia presenting after cardiac transplantation

Cited by 28 publications

References 18 publications

Cardiomyopathy of Friedreich’s Ataxia: Use of Mouse Models to Understand Human Disease and Guide Therapeutic Development

Cardiomyopathy of Friedreich’s Ataxia: Use of Mouse Models to Understand Human Disease and Guide Therapeutic Development

Management and therapy for cardiomyopathy in Friedreich’s ataxia

Perioperative Management of an Adolescent With Friedreich’s Ataxia and Hypertrophic Cardiomyopathy

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