Barth syndrome

Clarke, Sarah L N; Bowron, Ann; Gonzalez, Iris L.; Groves, Sarah; Newbury‐Ecob, Ruth; Clayton, Nicol; Martin, Robin P.; Tsai-Goodman, Beverly; Garratt, Vanessa; Ashworth, Michael; Bowen, Valerie M.; McCurdy, Katherine R.; Damin, Michaela K.; Spencer, Carolyn T.; Toth, Matthew J.; Kelley, Richard I.; Steward, Colin G.

doi:10.1186/1750-1172-8-23

Cited by 296 publications

(446 citation statements)

References 84 publications

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“…Unambiguous diagnostic testing for BTHS can be performed by determination of the relative amounts and distribution of (monolyso-)CL species and confi rmed by TAZ gene sequencing or vice versa. Unfortunately, molecular analysis of the TAZ gene can lead to false-negative results when mutations are present in regulating or relevant noncoding sequences; in addition, more than 120 distinct TAZ mutations have been described ( 4,5,36 ).…”

Section: Discussionmentioning

confidence: 99%

Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome

Angelini

Lobasso

Gorgoglione

et al. 2015

Journal of Lipid Research

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mitochondrial respiratory chain dysfunction ( 1-4 ). It results from loss-of-function mutations of the tafazzin ( TAZ ) gene ( 5 ).The major consequence of this loss-of-function is the defi cient remodeling of the mitochondrial phospholipid cardiolipin (CL), a process that normally leads to the mature acyl composition ( 6, 7 ). CL is the signature lipid of mitochondria, where it is an important constituent of the inner membrane, essential for supercomplex formation, oxidative phosphorylation (i.e., mitochondrial energy metabolism), and protein import, and is capable of triggering mitophagy and mitochondria-mediated apoptosis (8)(9)(10)(11)(12)(13)(14)(15)(16). Because the remodeling of CL is deficient in BTHS, biochemical abnormalities in patients include a decreased level of mature CL (CLm), an increased level of monolysocardiolipin (MLCL), and altered CL acyl composition [i.e., the presence of immature CL (CLi) species].Historically, the diagnosis of BTHS has relied on identifi cation of the clinical symptoms accompanied by neutropenia and 3-MGCA and has then been confi rmed by the fi nding of TAZ mutations. More recently, assays of CL alone or of the ratio of CL to MLCL have been used in Europe. However, each of these diagnostic approaches has problems. There are multiple reports of false-negative disease detection by urinary organic acid screening ( 4 ). TAZ sequencing is relatively slow and expensive, and CL analysis involves many steps including extraction of lipids and isolation of CL molecular species by complex chromatographic techniques. Consequently, although measurement of CL/MLCL ratio has 100% diagnostic sensitivity and specifi city, it is only available in a few clinical laboratories

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Section: Discussionmentioning

confidence: 99%

Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome

Angelini

Lobasso

Gorgoglione

et al. 2015

Journal of Lipid Research

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“…Specific studies of CL metabolism may be valuable concerning the evaluation of unclear variants. 70% in first year (n ¼ NA (Clarke et al 2013)), 91% (n ¼ 16 (Rigaud et al 2013)), 94% (n ¼ 73, (Roberts et al 2012 …”

Section: Discussionmentioning

confidence: 99%

Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

et al. 2015

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Barth syndrome is known as a highly recognizable X-linked disorder typically presenting with the three hallmarks: (left ventricular non-compaction) cardiomyopathy, neutropenia, and 3-methylglutaconic aciduria. Furthermore, growth retardation, mild skeletal myopathy, and specific facial features as well as mitochondrial dysfunction in muscle are frequently seen. Underlying mutations are found in TAZ and lead to defective cardiolipin remodeling.Here, we report atypical clinical manifestations of TAZ mutations in two male patients initially presenting with growth retardation and very mild skeletal myopathy. As other phenotypic hallmarks were missing, Barth syndrome had not been suspected in these patients. One of them has been incidentally diagnosed in the frame of an in-depth cardiolipin research analysis, while the underlying genetic defect was unexpectedly identified in the second one by exome sequencing.Conclusion: These cases underline that TAZ mutations might well be an underdiagnosed cause of skeletal myopathy and growth retardation and do not necessarily manifest with the full clinical picture of Barth syndrome.

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“…54 As of 2013, 151 cases had been described worldwide with an estimated incidence between 1 in 140 000 and 1 in 670 000 births. [55][56][57] Increasing identification of LV noncompaction (LVNC) because of improved imaging and awareness could uncover additional cases of BTHS. 58,59 BTHS is caused by a mutation in the TAZ gene on Xq28 responsible for encoding tafazzin protein.…”

Section: Myofibrillar Myopathymentioning

confidence: 99%

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Feingold¹,

Mahle²,

Auerbach³

et al. 2017

Circulation

220

195

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For many neuromuscular diseases (NMDs), cardiac disease represents a major cause of morbidity and mortality. The management of cardiac disease in NMDs is made challenging by the broad clinical heterogeneity that exists among many NMDs and by limited knowledge about disease-specific cardiovascular pathogenesis and course-modifying interventions. The overlay of compromise in peripheral muscle function and other organ systems, such as the lungs, also makes the simple application of endorsed adult or pediatric heart failure guidelines to the NMD population problematic. In this statement, we provide background on several NMDs in which there is cardiac involvement, highlighting unique features of NMD-associated myocardial disease that require clinicians to tailor their approach to prevention and treatment of heart failure. Undoubtedly, further investigations are required to best inform future guidelines on NMD-specific cardiovascular health risks, treatments, and outcomes. N euromuscular diseases (NMDs) encompass a broad spectrum of diagnoses with overlapping but distinct phenotypes. Common to many NMDs is cardiac involvement. Although the past 3 decades have seen marked advances in our understanding of many NMDs, significant gaps in knowledge remain on how best to approach cardiac care in these patients. For example, survival in Duchenne muscular dystrophy (DMD) has been extended through the use of glucocorticoid use and respiratory support, yet cardiac complications remain a significant cause of morbidity and mortality.1-3 To achieve further gains in care, we will need to improve our understanding of the pathophysiologies driving cardiac involvement in NMDs and advance treatments aimed at preventing the progression of heart failure (HF) and sudden death in NMDs. The recently published findings of an expert working group on cardiac involvement in DMD, which outlined key gaps in knowledge and made specific recommendations aimed at improving diagnosis and management, are a step toward this goal. 4 In this statement, we include a comprehensive overview of the major categories of NMDs with cardiac involvement. For each, a brief background of the gene defect(s), common clinical manifestations (particularly cardiac findings), and current therapies is summarized. Gaps in knowledge are highlighted, and where possible, clinical treatment suggestions are made by the expert writing group appointed by the American Heart Association to review the available literature. Selection of the writing group was performed in accordance with the American Heart Association's conflict-of-interest management policy. Participants volunteered to write sections relevant to their expertise and experience. CLINICAL STATEMENTS AND GUIDELINESconducted a general search of the literature, restricted to human subjects research published between 1980 and 2016. Drafts of each section were written and sent to the chair of the writing group for incorporation into a single document, which was then edited. The edited document was discussed electron...

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Barth syndrome

Cited by 296 publications

References 84 publications

Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome

Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome

Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

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