Eponym

Takeda, Atsuhito; Sudo, Akira; Yamada, Masafumi; Yamazawa, Hirokuni; Izumi, Gaku; Nishino, Ichizo; Ariga, Tadashi

doi:10.1007/s00431-011-1575-6

Cited by 16 publications

(9 citation statements)

References 25 publications

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“…This syndrome is characterized by cardiomyopathy, neutropenia, skeletal myopathy and growth delay. While clinical symptoms are usually present early in infancy [2], the age at presentation and the features of BTHS vary significantly among patients [3]. BTHS is caused by mutations in the TAZ gene, located in Xq28 [4].…”

Section: Introductionmentioning

confidence: 99%

Natural history of Barth syndrome: a national cohort study of 22 patients

Rigaud

Lèbre

Touraine

et al. 2013

Orphanet J Rare Dis

110

151

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BackgroundThis study describes the natural history of Barth syndrome (BTHS).MethodsThe medical records of all patients with BTHS living in France were identified in multiple sources and reviewed.ResultsWe identified 16 BTHS pedigrees that included 22 patients. TAZ mutations were observed in 15 pedigrees. The estimated incidence of BTHS was 1.5 cases per million births (95%CI: 0.2–2.3). The median age at presentation was 3.1 weeks (range, 0–1.4 years), and the median age at last follow-up was 4.75 years (range, 3–15 years). Eleven patients died at a median age of 5.1 months; 9 deaths were related to cardiomyopathy and 2 to sepsis. The 5-year survival rate was 51%, and no deaths were observed in patients ≥3 years. Fourteen patients presented with cardiomyopathy, and cardiomyopathy was documented in 20 during follow-up. Left ventricular systolic function was very poor during the first year of life and tended to normalize over time. Nineteen patients had neutropenia. Metabolic investigations revealed inconstant moderate 3-methylglutaconic aciduria and plasma arginine levels that were reduced or in the low-normal range. Survival correlated with two prognostic factors: severe neutropenia at diagnosis (<0.5 × 109/L) and birth year. Specifically, the survival rate was 70% for patients born after 2000 and 20% for those born before 2000.ConclusionsThis survey found that BTHS outcome was affected by cardiac events and by a risk of infection that was related to neutropenia. Modern management of heart failure and prevention of infection in infancy may improve the survival of patients with BTHS without the need for heart transplantation.

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Section: Introductionmentioning

confidence: 99%

Natural history of Barth syndrome: a national cohort study of 22 patients

Rigaud

Lèbre

Touraine

et al. 2013

Orphanet J Rare Dis

110

151

View full text Add to dashboard Cite

show abstract

“…After duplicates were removed (n=19) and titles were screened for relevance, a total of 129 articles remained. 2 – 11 , 15 – 133 Within the screened publications, descriptive studies, case reports, narrative reviews, consensus statements, and expert opinion articles were represented. Of the 129 abstracts screened, 86 were excluded with reasons, while 17 appeared to match the Cochrane Population, Intervention, Control, Outcome, Study Design (PICOS) inclusion criteria.…”

Section: Resultsmentioning

confidence: 99%

“…Tafazzin plays an important role in the remodeling of cardiolipin, a component of the mitochondrial membrane necessary for maintaining mitochondrial structure as well as for mitochondrial apoptosis and functioning of the electron transport chain. 2 , 3 Heart failure is the most common clinical feature identified at birth and is the leading cause of death in infants with Barth syndrome. The most common cardiac features of Barth syndrome include dilated cardiomyopathy, left ventricular non-compaction, endocardial fibroelastosis, and serious disturbances of heart rhythm such as ventricular fibrillation or tachycardia.…”

Section: Introductionmentioning

confidence: 99%

Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach

Reynolds¹

2015

JMDH

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This review describes and summarizes the available evidence related to the treatment and management of Barth syndrome. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) standards were used to identify articles published between December 2004 and January 2015. The Cochrane Population, Intervention, Control, Outcome, Study Design (PICOS) approach was used to guide the article selection and evaluation process. Of the 128 articles screened, 28 articles matched the systematic review inclusion criteria. The results of this review indicate the need for a flexible and multidisciplinary approach to manage the symptoms most commonly associated with Barth syndrome. It is recommended that a comprehensive care team should include individuals with Barth syndrome, their family members and caregivers, as well as medical, rehabilitative, nutritional, psychological, and educational professionals. The evidence for specific treatments, therapies, and techniques for individuals with Barth syndrome is currently lacking in both quality and quantity.

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“…In this case, we found a novel mutation of the TAZ gene and experienced an unexpected acute exacerbation after contrast dye injection for CT angiography. Since the discovery of Barth syndrome by Barth in 1983, more than 100 different mutations of the TAZ gene have been reported in all exons of Xq28 (4). The level and composition of cardiolipin are affected by the TAZ gene mutation, resulting in the instability of the mitochondrial respiratory chain in the inner mitochondrial membrane lipid (3).…”

Section: Discussionmentioning

confidence: 99%

A Novel Mutation of the TAZ Gene in Barth Syndrome: Acute Exacerbation after Contrast-Dye Injection

et al. 2013

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A 14-month-old boy was transferred because of dilated and hypertrophied left ventricle, neutropenia, and developmental delay. After checking computed tomographic angiography with contrast-dye, the patient showed acute exacerbation and finally died from multi-organ failure despite intensive cares. From genetic analysis, we revealed that the patient had Barth syndrome and found a novel hemizygous frame shift mutation in his TAZ gene, c.227delC (p.Pro76LeufsX7), which was inherited from his mother. Herein, we report a patient with Barth syndrome who had a novel mutation in TAZ gene and experienced unexpected acute exacerbation after contrast dye injection for computed tomographic angiography.

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Eponym

Abstract: physicians should be aware of the possibility of this disease and carry out genetic studies when it is considered.

Cited by 16 publications

References 25 publications

Natural history of Barth syndrome: a national cohort study of 22 patients

Natural history of Barth syndrome: a national cohort study of 22 patients

Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach

A Novel Mutation of the TAZ Gene in Barth Syndrome: Acute Exacerbation after Contrast-Dye Injection

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