Successful cardiac transplantation in Barth syndrome – single‐centre experience of four patients

Mangat, Jasveer; Lunnon-Wood, T; Rees, Philip; Elliott, Martin J.; Burch, Michael

doi:10.1111/j.1399-3046.2006.00629.x

Cited by 38 publications

(33 citation statements)

References 16 publications

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“…Therefore, close monitoring of the metabolism of young infants affected by Barth syndrome is needed to better understand the disease's early clinical course. Since cardiac transplantation in Barth syndrome has been successful, and is the only possibility at present time [13], early metabolic stabilization for the young affected infants will be very important.…”

Section: Discussionmentioning

confidence: 99%

Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review

et al. 2007

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Barth syndrome presents in infancy with hypotonia, dilated cardiomyopathy, and neutropenia. We report a patient whose family history included two males who had died suddenly at the age of 15 days and 2 years, respectively. The index case presented with acute metabolic decompensation at 13 days of age. Within 8 h of presenting with metabolic acidosis (pH 7.13), lactic acidemia (18.5 mmol/l), hyperammonemia (375 microg/dl), hypoglycemia (25 mg/dl), and coagulopathy, the patient developed respiratory failure and required intubation. The diagnosis was established by the presence of left ventricular noncompaction and molecular analysis (c.C153G or Y51X mutation of the TAZ gene). The gene product, taffazin, is a homologue of the glycerolipid transferases involved in the phospholipid metabolism as tetralinoleoyl-cardiolipin, a component of the mitochondrial inner membrane. In conclusion, mutations in taffazin impair mitochondrial respiratory chain complexes, which may results in the acute metabolic decompensation and sudden death; cardiac transplantation is the only possibility at the present time.

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Section: Discussionmentioning

confidence: 99%

Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review

et al. 2007

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“…For those patients with refractory HF or those on MCS, cardiac transplant is typically considered. Although there are clinical concerns of neutropenia in the setting of required immunosuppression, we and others have reported success in selected cases [Mangat et al, 2007]. Nine patients in the BTHS Registry were successfully transplanted with a mean age at time of transplant of 3.8 ± 5.3 years (range: 3 months to 16 years) [Roberts et al, 2012].…”

Section: Managementmentioning

confidence: 99%

Barth syndrome

Jefferies¹

2013

American J of Med Genetics Pt C

110

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Barth syndrome (BTHS) is an X-linked recessive disorder that is typically characterized by cardiomyopathy (CMP), skeletal myopathy, growth retardation, neutropenia, and increased urinary levels of 3-methylglutaconic acid (3-MGCA). There may be a wide variability of phenotypes amongst BTHS patients with some exhibiting some or all of these findings. BTHS was first described as a disease of the mitochondria resulting in neutropenia as well as skeletal and cardiac myopathies. Over the past few years, a greater understanding of BTHS has developed related to the underlying genetic mechanisms responsible for the disease. Mutations in the TAZ gene on chromosome Xq28, also known as G4.5, are responsible for the BTHS phenotype resulting in a loss-of-function in the protein product tafazzin. Clinical management of BTHS has also seen improvement. Patients with neutropenia are susceptible to life-threatening bacterial infections with sepsis being a significant concern for possible morbidity and mortality. Increasingly, BTHS patients are suffering from heart failure secondary to their CMP. Left ventricular noncompaction (LVNC) and dilated CMP are the most common cardiac phenotypes reported and can lead to symptoms of heart failure as well as ventricular arrhythmias. Expanded treatment options for end-stage myocardial dysfunction now offer an opportunity to change the natural history for these patients. Herein, we will provide a current review of the genetic and molecular basis of BTHS, the clinical features and management of BTHS, and potential future directions for therapeutic strategies. © 2013 Wiley Periodicals, Inc.

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“…Sudden unexpected death in early life has been reported (Yen et al 2008). The progression of cardiomyopathy (CM) is variable, sometimes slowly improving over the years, but mostly progressive and ending up at a point where heart transplantation is the only treatment option (Christodoulou et al 1994; Adwani et al 1997; Mangat et al 2007). Cyclic neutropenia, ranging from mild to severe, is frequently seen; and fatal bacterial infections can occur in the neonatal period.…”

Section: -Mga-uria Type II (Barth Syndrome Mim 302060)mentioning

confidence: 99%

The 3‐methylglutaconic acidurias: what's new?

Wortmann

Kluijtmans

Engelke

et al. 2010

J of Inher Metab Disea

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The heterogeneous group of 3-methylglutaconic aciduria (3-MGA-uria) syndromes includes several inborn errors of metabolism biochemically characterized by increased urinary excretion of 3-methylglutaconic acid. Five distinct types have been recognized: 3-methylglutaconic aciduria type I is an inborn error of leucine catabolism; the additional four types all affect mitochondrial function through different pathomechanisms. We provide an overview of the expanding clinical spectrum of the 3-MGA-uria types and provide the newest insights into the underlying pathomechanisms. A diagnostic approach to the patient with 3-MGA-uria is presented, and we search for the connection between urinary 3-MGA excretion and mitochondrial dysfunction.

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Successful cardiac transplantation in Barth syndrome – single‐centre experience of four patients

Cited by 38 publications

References 16 publications

Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review

Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review

Barth syndrome

The 3‐methylglutaconic acidurias: what's new?

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