Heart transplantation in children with mitochondrial cardiomyopathy

Bonnet, D; Rustin, Pierre; Rötig, Agnès; Bidois, J. Le; Münnich, Arnold; Vouhé, P; Kachaner, J; Sidi, Daniel

doi:10.1136/heart.86.5.570

Cited by 37 publications

(31 citation statements)

References 18 publications

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“…One case series has described successful heart transplantation for 7 patients with largely isolated cardiomyopathy (i.e., minimal extracardiac manifestations) secondary to mitochondrial defects. 13 To our knowledge, no report exists documenting cardiac transplantation in patients with MELAS specifically. Our query of the International Society of Heart and Lung Transplantation registry for the period 1990 through 2003 revealed 6 patients that underwent heart transplantation who carried the diagnosis of mitochondrial cardiomyopathy, none of whom carried the diagnosis of MELAS.…”

Section: Discussionmentioning

confidence: 96%

Heart Transplantation for Progressive Cardiomyopathy as a Manifestation of MELAS Syndrome

Bhati

Sheridan

Mill

et al. 2005

The Journal of Heart and Lung Transplantation

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Section: Discussionmentioning

confidence: 96%

Heart Transplantation for Progressive Cardiomyopathy as a Manifestation of MELAS Syndrome

Bhati

Sheridan

Mill

et al. 2005

The Journal of Heart and Lung Transplantation

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“…Cardiomyopathy is recognized as accompanying several mitochondrial conditions, such as MELAS; in some cases, heart transplantation may represent an alternative. For instance, cardiac transplantation with a 50% survival rate has been reported in six patients with mitochondrial cardiomyopathy (Bonnet et al 2001). More recently, a successful recipient outcome for two patients with MELAS was reported (Bhati et al 2005).…”

Section: Surgical Proceduresmentioning

confidence: 98%

Mitochondrial medicine: to a new era of gene therapy for mitochondrial DNA mutations

Cwerman-Thibault

Sahel

Corral‐Debrinski

2010

J of Inher Metab Disea

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Mitochondrial disorders can no longer be ignored in most medical disciplines. Such disorders include specific and widespread organ involvement, with tissue degeneration or tumor formation. Primary or secondary actors, mitochondrial dysfunctions also play a role in the aging process. Despite progresses made in identification of their molecular bases, nearly everything remains to be done as regards therapy. Research dealing with mitochondrial physiology and pathology has >20 years of history around the world. We are involved, as are many other laboratories, in the challenge of finding ways to fight these diseases. However, our main limitation is the scarcety of animal models required for both understanding the molecular mechanisms underlying the diseases and evaluating therapeutic strategies. This is especially true for diseases due to mutations in mitochondrial DNA (mtDNA), since an authentic genetic model of mtDNA mutations is technically a very difficult task due to both the inability of manipulating the mitochondrial genome of living mammalian cells and to its multicopy nature. This has led researchers in the field to consider the prospect of gene therapy approaches that can roughly be divided into three groups: (1) import of wild-type copies or relevant sections of DNA or RNA into mitochondria, (2) manipulation of mitochondrial genetic content, and (3) rescue of a defect by expression of an engineered gene product from the nucleus (allotopic or xenotropic expression). We briefly introduce these concepts and indicate where promising progress has been made in the last decade.

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“…Cardiac transplantation with a 50% survival rate has been reported in six patients with mitochondrial cardiomyopathy. 37 Two cases of patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome and successful recipient outcome have been reported in the literature. 38 Four patients with Barth syndrome, an X-linked recessive disease caused by mutations in the tafazzin gene (TAZ), with variable clinical findings including heart failure, myopathy, neutropenia, and growth retardation, have undergone successful orthotopic heart transplantation with no increased rate of rejection.…”

Section: Treatment Of Other Complications and The Role Of Solid Organmentioning

confidence: 99%

How Can We Treat Mitochondrial Encephalomyopathies? Approaches to Therapy

2008

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Summary:Mitochondrial disorders are a heterogeneous group of diseases affecting different organs (brain, muscle, liver, and heart), and the severity of the disease is highly variable. The chronicity and heterogeneity, both clinically and genetically, means that many patients require surveillance follow-up over their lifetime, often involving multiple disciplines. Although our understanding of the genetic defects and their pathological impact underlying mitochondrial diseases has increased over the past decade, this has not been paralleled with regards to treatment. Currently, no definitive pharmacological treatment exists for patients with mitochondrial dysfunction, except for patients with primary deficiency of coenzyme Q10. Pharmacological and nonpharmacological treatments increasingly being investigated include ketogenic diet, exercise, and gene therapy. Management is aimed primarily at minimizing disability, preventing complications, and providing prognostic information and genetic counseling based on current best practice. Here, we evaluate therapies used previously and review current and future treatment modalities for both adults and children with mitochondrial disease.

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Heart transplantation in children with mitochondrial cardiomyopathy

Cited by 37 publications

References 18 publications

Heart Transplantation for Progressive Cardiomyopathy as a Manifestation of MELAS Syndrome

Heart Transplantation for Progressive Cardiomyopathy as a Manifestation of MELAS Syndrome

Mitochondrial medicine: to a new era of gene therapy for mitochondrial DNA mutations

How Can We Treat Mitochondrial Encephalomyopathies? Approaches to Therapy

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