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
Current Diagnostic and Treatment Strategies for Specific Dilated Cardiomyopathies: A Scientific Statement From the American Heart Association.
Biykem Bozkurt,Monica Colvin,Jennifer L. Cook,Leslie T. Cooper,Anita Deswal,Gregg C. Fonarow,Gary S. Francis,Daniel J. Lenihan,Eldrin F. Lewis,Dennis M. McNamara,Elfriede Pahl,Ramachandran S. Vasan,Kumudha Ramasubbu,Kismet Rasmusson,Jeffrey A. Towbin,Clyde W. Yancy +15 more
TL;DR: The intent of this American Heart Association (AHA) scientific statement is to summarize the current understanding of dilated cardiomyopathies, with special emphasis on recent developments in diagnostic approaches and therapies for specific cardiologyopathies.
Journal ArticleDOI
Metabolism and function of mitochondrial cardiolipin.
TL;DR: The formation, the migration, and the degradation of cardiolipin are described and how cardiolIPin affects mitochondrial function is discussed, which gives an overview of the various phenotypes of cardiolaipin deficiency in different organisms.
Journal ArticleDOI
Diversity and function of membrane glycerophospholipids generated by the remodeling pathway in mammalian cells
TL;DR: Recent progress in this field contributes to understanding how and why membrane glycerophospholipid diversity is organized and maintained.
Journal ArticleDOI
Role of Cardiolipin in Mitochondrial Function and Dynamics in Health and Disease: Molecular and Pharmacological Aspects.
TL;DR: The role played by CL in mitochondrial function and dynamics in health and diseases and on the potential of pharmacological modulation of CL through several agents in attenuating mitochondrial dysfunction are focused on.
Journal ArticleDOI
Left Ventricular Noncompaction : A Distinct Genetic Cardiomyopathy?
TL;DR: The prevalence of LVNC in healthy athletes, its possible reversibility, and increasing diagnosis in healthy subjects suggests cautious use of the term LVNC cardiomyopathy, which describes the morphology but not the functional profile of the cardiopathy.
References
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Journal ArticleDOI
Tafazzin Knockdown in Mice Leads to a Developmental Cardiomyopathy With Early Diastolic Dysfunction Preceding Myocardial Noncompaction
Colin K.L. Phoon,Devrim Acehan,Michael Schlame,David L. Stokes,Irit Edelman-Novemsky,Dawen Yu,Yang Xu,Nitya Viswanathan,Mindong Ren +8 more
TL;DR: In this murine model, tafazzin deficiency leads to a unique developmental cardiomyopathy characterized by ventricular myocardial hypertrabeculation-noncompaction and early lethality.
Journal ArticleDOI
Barth syndrome: Clinical observations and genetic linkage studies
John Christodoulou,Roderick R. McInnes,Venita Jay,Gregory J. Wilson,Laurence E. Becker,Denis C. Lehotay,B.-A. Platt,P. J. Bridge,Brian H. Robinson,Joe T.R. Clarke +9 more
TL;DR: The urinary organic acid abnormalities and plasma carnitine deficiency were inconsistent findings and it is proposed that they may be epiphenomena rather than indicators of the primary metabolic defect, and that the primary defect or defects in this disorder may lie in the mitochondrial electron transport chain.
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Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth.
Colin G. Steward,Ruth A. Newbury-Ecob,Rob Hastings,Sarah F. Smithson,Beverly Tsai-Goodman,Oliver Quarrell,Wim Kulik,R Wanders,M Pennock,Maggie Williams,JL Cresswell,Iris L. Gonzalez,Paul Brennan +12 more
TL;DR: This study wished to determine whether BTHS had a significant impact on fetal and perinatal health in a large cohort of family groups originating from a defined region.
Journal ArticleDOI
The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study.
Amy E. Roberts,Connie Nixon,Colin G. Steward,Kimberly Gauvreau,Melissa K. Maisenbacher,Matthew Fletcher,Judith Geva,Barry J. Byrne,Carolyn T. Spencer +8 more
TL;DR: Growth curves were generated demonstrating a shift down for weight, length, and height versus the normative population with late catch up in height for a significant percentage of cases.
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Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis
Taco W. Kuijpers,Nikolai A. Maianski,Anton T.J. Tool,Kolja Becker,Barbara Plecko,Fredoen Valianpour,Ron J. A. Wanders,Rob Rodrigues Pereira,Johan L.K. Van Hove,Arthur J. Verhoeven,Dirk Roos,Frank Baas,Peter G. Barth +12 more
TL;DR: A massive number of circulating annexin-V-binding neutrophils in the absence of apoptosis can be demonstrated in BTHS, exposing an alternative substrate for annexin -V different from PS and not recognized by macrophages, excluding early clearance as an explanation for the neutropenia.