Cardiac transplantation in a 14‐yr‐old patient with mitochondrial encephalomyopathy

Schmauß, Daniel; Sodian, Ralf; Klopstock, Thomas; Deutsch, M; Kaczmarek, Ingo; Roemer, U.; Reichart, Bruno; Daebritz, Sabine

doi:10.1111/j.1399-3046.2007.00719.x

Cited by 13 publications

(6 citation statements)

References 8 publications

(16 reference statements)

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“…Overall, 14 studies satisfied the predetermined search criteria (Figure 1). Two papers from the Baylor College of Medicine (Texas, United States) and another two from Ludwig Maximilian University (Munich, Germany) had overlapping populations, and a synthesis of their respective data was performed. Furthermore, two analyses of the UNOS database were also identified .…”

Section: Resultsmentioning

confidence: 99%

Permanent pacemaker implantation in pediatric heart transplant recipients: A systematic review and evidence quality assessment

Mylonas

Repanas

Athanasiadis

et al. 2020

Pediatric Transplantation

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Bradyarrhythmias are a common complication following pediatric OHT and may require permanent pacemaker implantation (PPM). The purpose of this study was to investigate the incidence, predictors, and outcomes of children undergoing PPM implantation following OHT. A PRISMA‐compliant systematic literature review was performed using the PubMed database and the Cochrane Library (end‐of‐search date: January 27, 2019). The Newcastle‐Ottawa scale and the Joanna Briggs Institute tool were used to assess the quality of cohort studies and case reports, respectively. We analyzed data from a total of 11 studies recruiting 7198 pediatric patients who underwent heart transplant. PPM implantation was performed in 1.9% (n = 137/7,198; 95% CI: 1.6‐2.2) of the patients. Most patients underwent dual‐chamber pacing (46%, 95% CI: 32.6‐59.7). Male‐to‐female ratio was 1.3:1. Mean patient age at the time of OHT was 10.1 ± 6.3. Overall, biatrial anastomosis was used in 62.2% (95% CI: 52.8‐70.6) of the patients. The bicaval technique was performed in the remaining 37.8% (95% CI: 29.4‐47.1). Sinus node dysfunction was the most frequent indication for PPM implantation (54.4%; 95% CI: 42.6‐65.7) followed by AV block (45.6%; 95% CI: 34.3‐57.3). The median time interval between OHT and PPM implantation ranged from 17 days to 12.5 years. All‐cause mortality was 27.9% (95% CI: 18.6‐39.6) during a median follow‐up of 5 years. PPM implantation is rarely required after pediatric OHT. The most common indication for pacing is sinus node dysfunction, and patients undergoing biatrial anastomosis may be more likely to require PPM.

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Section: Resultsmentioning

confidence: 99%

Permanent pacemaker implantation in pediatric heart transplant recipients: A systematic review and evidence quality assessment

Mylonas

Repanas

Athanasiadis

et al. 2020

Pediatric Transplantation

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“…Current use of beta-adrenergic receptor antagonists or calcium channel blocker medications and angiotensin-converting enzyme inhibitors or angiotensin receptors blockers in mitochondrial disease patients with hypertrophic remodeling is empirical, based on results from animal studies regarding other genetically determined abnormalities (predominantly sarcomeric hypertrophic cardiomyopathy) (34). Cardiac transplantation, although controversial in metabolic disease with potential multisystem involvement, has been performed successfully in patients with MDs (35).…”

Section: Discussionmentioning

confidence: 99%

Improvement of cardiomyopathy after ketogenic diet in a patient with Leigh syndrome caused by MTND5 mutation

Wesół-Kucharska

Greczan

Witulska

et al. 2021

Preprint

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BackgroundMitochondrial diseases (MDs) are heterogeneous group of disorders caused by inborn defects in the mitochondrial respiratory chain (MRC) and malfunctions of cellular oxidative phosphorylation (OXPHOS). MDs are caused by mutations both in mitochondrial and nuclear DNA. Leigh syndrome (LS) is a neurodegenerative MD with specific clinical and neuroradiological features. There is a broad clinical spectrum of MDs, including organ-specific and multiorgan presentations with symptoms occurring at any age. High energy requiring organs are most frequently involved and cardiac involvement is common. At present there is no specific treatment for MD. Ketogenic diet (KD) has been proposed as a treatment option for patients with MD with seizures or myopathy. It is suggested that KD itself may trigger cardiological complications after long-term therapy, but according to an animal model study, KD could be considered as a therapeutic option for some mitochondrial cardiomyopathies.MethodHere we present a retrospective case report on a male infant diagnosed with LS (m.12706T > C in MTND5) with severe progressive hypertrophic cardiomyopathy, with significant cardiological improvement after KD implementation .ResultsThe ketogenic diet was introduced in a male infant with clinical, biochemical and radiological features of Leigh syndrome, confirmed by next-generation sequencing (NGS) (known pathogenic variant in mtDNA), suffering from severe progressive hypertrophic cardiomyopathy and heart failure with no significant improvement on cardiological treatment, mitochondrial cocktail therapy and mechanical ventilation. The follow-up after KD initiation have shown significant clinical improvement in cardiovascular efficiency and echocardiographic parameters with no adverse effect observed so far.ConclusionScreening for cardiomyopathy is a standard of care (SoC) in the management of patients with mitochondrial disease. Although there are reports suggesting the efficacy and safety of KD in patients with mitochondrial disease, more studies are needed to understand the pathophysiology of mitochondrial diseases and to determine which patients are likely to benefit from this therapy.

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“…Two patients with MELAS (10) were well one to seven yr post‐transplant, and one with GRACILE syndrome (11) died shortly after transplant. The remainder had non‐syndromic mitochondrial disease, with skeletal muscle showing ragged red fibers, cytochrome‐c negative fibers, abnormal mitochondrial morphology, and/or complex I, II, or I/IV deficiency (10–16). All patients were doing well at the time of follow‐up, the longest of which was seven yr (11).…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial electron transport chain deficiency, cardiomyopathy, and long‐term cardiac transplant outcome

Golden¹,

Law

Shurtleff³

et al. 2012

Pediatric Transplantation

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Organ transplantation in multisystemic mitochondrial cytopathies is usually not performed because of perceived untoward complications. We report three patients with demonstrated oxidative phosphorylation defects and dilated cardiomyopathy who underwent cardiac transplant. All three patients tolerated immunosuppression medications and have had an excellent long-term outcome. Our results suggest that with proper patient selection in this population, cardiac transplantation is feasible and can have good outcomes.

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Cardiac transplantation in a 14‐yr‐old patient with mitochondrial encephalomyopathy

Cited by 13 publications

References 8 publications

Permanent pacemaker implantation in pediatric heart transplant recipients: A systematic review and evidence quality assessment

Permanent pacemaker implantation in pediatric heart transplant recipients: A systematic review and evidence quality assessment

Improvement of cardiomyopathy after ketogenic diet in a patient with Leigh syndrome caused by MTND5 mutation

Mitochondrial electron transport chain deficiency, cardiomyopathy, and long‐term cardiac transplant outcome

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