Barth syndrome
Sarah Ln Clarke,Ann Bowron,Iris L. Gonzalez,Sarah J. Groves,Ruth Newbury-Ecob,Nicol Clayton,Robin P. Martin,Beverly Tsai-Goodman,Vanessa Garratt,Michael Ashworth,Valerie M. Bowen,Katherine R. McCurdy,Michaela K. Damin,Carolyn T. Spencer,Matthew J Toth,Richard I. Kelley,Colin G. Steward +16 more
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TLDR
The Barth syndrome (BTHS) is a rare X-linked genetic disease characterized by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA) as mentioned in this paper.Abstract:
First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), endocardial fibroelastosis (EFE), left ventricular non-compaction (LVNC), ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical), compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and recurrent male miscarriage and stillbirth. Cardiolipin testing and TAZ sequencing now provide relatively rapid diagnostic testing, both prospectively and retrospectively, from a range of fresh or stored tissues, blood or neonatal bloodspots. TAZ sequencing also allows female carrier detection and antenatal screening. Management of BTHS includes medical therapy of CM, cardiac transplantation (in 14% of patients), antibiotic prophylaxis and granulocyte colony-stimulating factor (G-CSF) therapy. Multidisciplinary teams/clinics are essential for minimising hospital attendances and allowing many more individuals with BTHS to live into adulthood.read more
Citations
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Journal ArticleDOI
Tafazzin Modulates Allergen-Induced Mast Cell Inflammatory Mediator Secretion
Aindriu R. R. Maguire,Robert W. E. Crozier,Katie D Hunter,Steven M. Claypool,Val A. Fajardo,Paul J. LeBlanc,Adam J. MacNeil +6 more
TL;DR: In this paper, the authors evaluated the contribution of TAZ in IgE-mediated mast cell activation and found that TAZ reduction impairs mast cell exocytosis mechanisms.
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Experimental models of Barth syndrome.
William T. Pu,William T. Pu +1 more
TL;DR: A review of the major model systems that have been established to study the role of cardiolipin remodeling in mitochondrial function and the pathogenesis of Barth syndrome can be found in this paper.
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Diverse mitochondrial abnormalities in a new cellular model of TAFFAZZIN deficiency are remediated by Cardiolipin-interacting small molecules
Arianna F. Anzmann,Olivia L. Sniezek,Alexandra Pado,Veronica F. Busa,Frédéric M. Vaz,Simion Kreimer,Lauren R. DeVine,Robert N. Cole,Anne Le,Brian J. Kirsch,Steven M. Claypool,Hilary J. Vernon +11 more
TL;DR: In this paper, an unbiased proteomics strategy and identified that complex I (CI) of the mitochondrial respiratory chain and the mitochondrial quality control protease presenilin-associated rhomboid-like protein (PARL) are altered in a new HEK293-based tafazzin-deficiency model.
Journal ArticleDOI
Longitudinal Observational Study of Cardiac Outcome Risk Factor Prediction in Children, Adolescents, and Adults with Barth Syndrome
Shahryar M. Chowdhury,Lanier Jackson,Barry J. Byrne,L. M. Bryant,W. Todd Cade,Tammy L. Churchill,Julia Buchanan,Carolyn Taylor +7 more
TL;DR: Those with progressive LV enlargement, dysfunction, and multiple cardiac risk factors warrant increased surveillance and intense therapy.
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Cardiolipin function in the yeast S. cerevisiae and the lessons learned for Barth syndrome.
Jiajia Ji,Miriam L. Greenberg +1 more
TL;DR: In this paper, the authors discuss important findings on the function of cardiolipin and its remodeling from yeast studies and the implications of these findings for Barth syndrome, highlighting the potential physiological modifiers that may contribute to the disparities in clinical presentation among BTHS patients.
References
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Journal ArticleDOI
The biosynthesis and functional role of cardiolipin.
Journal ArticleDOI
A novel X-linked gene, G4.5. is responsible for Barth syndrome
Silvia Bione,Patrizia D'Adamo,Elena Maestrini,Agi K. Gedeon,Pieter A. Bolhuis,Daniela Toniolo +5 more
TL;DR: The results suggest that G4.5 is the genetic locus responsible for the Barth syndrome, and introduces stop codons in the open reading frame interrupting translation of most of the putative proteins.
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An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes
Peter G. Barth,Hans R. Scholte,J.A. Berden,J.M. Van Der Klei-Van Moorsel,I.E.M. Luyt-Houwen,E.Th. Van'T Veer-Korthof,J.J. Van Der Harten,M.A. Sobotka-plojhar +7 more
TL;DR: Biochemical studies and haematological abnormalities (neutropenia) are reported for the first time in an X-linked recessive disease reported in a large pedigree of boys.
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The epidemiology of childhood cardiomyopathy in Australia.
Alan Nugent,Piers E.F. Daubeney,Patty Chondros,John B. Carlin,Michael Cheung,Lynette C. Wilkinson,Andrew M. Davis,Stephen G. Kahler,Chung Wo Chow,James L. Wilkinson,Robert G. Weintraub +10 more
TL;DR: The timing and severity of presentation in children with cardiomyopathy are related to the type of cardiomeopathy, as well as to genetic and ethnic factors.
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Clinical Characterization of Left Ventricular Noncompaction in Children A Relatively Common Form of Cardiomyopathy
Ricardo H. Pignatelli,Colin J. McMahon,William J. Dreyer,Susan W. Denfield,Jack F. Price,John W. Belmont,William J. Craigen,Jen Wu,Howaida G. El Said,Louis I. Bezold,Sarah K. Clunie,Susan D. Fernbach,Neil E. Bowles,Jeffrey A. Towbin +13 more
TL;DR: A significant number of patients with LVNC have transient recovery of function followed by later deterioration, which may account for many patients presenting as adults, some manifesting an “undulating” phenotype.