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
Cardiac Phenotypes in Hereditary Muscle Disorders: JACC State-of-the-Art Review
Eloisa Arbustini,Alessandro Di Toro,Lorenzo Giuliani,Valentina Favalli,Nupoor Narula,Maurizia Grasso +5 more
TL;DR: Although the actual cardiac management is rarely based on the cause, the cardiac phenotypes need precise characterization because they are often the only or the predominant manifestations and the prognostic determinants of many hereditary muscle disorders.
Journal ArticleDOI
The MOGE(S) Classification for a Phenotype-Genotype Nomenclature of Cardiomyopathy: Endorsed by the World Heart Federation.
Eloisa Arbustini,Navneet Narula,G. William Dec,K. Srinath Reddy,Barry H. Greenberg,Sudhir S. Kushwaha,Thomas H. Marwick,Sean Pinney,Riccardo Bellazzi,Valentina Favalli,Christopher M. Kramer,Robert Roberts,William A. Zoghbi,Robert O. Bonow,Luigi Tavazzi,Valentin Fuster,Jagat Narula +16 more
TL;DR: The World Health Organization (WHO) and International Society and Federation of Cardiology (ISFC) established the definition of cardiomyopathies as myocardial diseases of unknown etiology, reflecting the general lack of information about the mechanism(s) of disease as discussed by the authors.
Journal ArticleDOI
Integration concepts for multi-organ chips: how to maintain flexibility?!
TL;DR: This perspective elucidates the concept of ‘mix-and-match’ toolboxes and discusses the numerous advantages compared with static/semistatic platforms as well as remaining challenges.
Journal ArticleDOI
Barth syndrome cardiomyopathy.
Jan Dudek,Christoph Maack +1 more
TL;DR: How in BTHS CL deficiency causes changes in the morphology of mitochondria, structural changes inThe respiratory chain, decreased respiration, and increased generation of reactive oxygen species is described.
Journal ArticleDOI
Cristae Membrane Dynamics - A Paradigm Change.
TL;DR: Advances in super-resolution techniques have revealed that cristae are independent bioenergetic units that are highly dynamic and remodel on a timescale of seconds, and this work summarizes these recent findings and discusses their functional implications.
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.
Journal ArticleDOI
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.