Haematological features in Barth syndrome

Current Opinion in Hematology

Volumn 20, Issue 1, 2013, Pages 36-40

  Finsterer, Josef ^a   Frank, Marlies ^a  

^a KRANKENANSTALT RUDOLFSTIFTUNG   (Austria)

Author keywords

Barth syndrome; Mitochondrial; Myopathy; Neutropenia; Taffazine

Indexed keywords

CARDIOLIPIN; GRANULOCYTE COLONY STIMULATING FACTOR; INTERLEUKIN 6; PHOSPHATIDYLSERINE; REACTIVE OXYGEN METABOLITE; SHORT HAIRPIN RNA; SOMATOMEDIN C; TETRALINOLEOYL CARDIOLIPIN; UNCLASSIFIED DRUG;

APOPTOSIS; BARTH SYNDROME; BONE MARROW CELL; CARDIOMYOPATHY; CELL ADHESION; CELL DENSITY; CELLULAR DISTRIBUTION; CLINICAL FEATURE; CYTOGENETICS; CYTOKINE RELEASE; DISEASE MARKER; EOSINOPHIL; FAT FREE MASS; HEART FAILURE; HEART VENTRICLE ARRHYTHMIA; HEMATOLOGICAL FEATURE; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HISTOPATHOLOGY; HUMAN; HYPERINSULINEMIA; LACTIC ACIDOSIS; LYMPHOBLAST; MACROPHAGE; MITOCHONDRIAL MEMBRANE; MITOCHONDRIAL MYOPATHY; MITOCHONDRIAL VOLUME; MYELOID PROGENITOR CELL; NEUTROPENIA; NEUTROPHIL; OXYGENATOR; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; SEPTIC SHOCK; SKIN FIBROBLAST; SYSTOLIC DYSFUNCTION; TANDEM MASS SPECTROMETRY; VENTRICULAR ASSIST DEVICE;

BARTH SYNDROME; HUMANS; NEUTROPENIA;

EID: 84871960912     PISSN: 10656251     EISSN: 15317048     Source Type: Journal    
DOI: 10.1097/MOH.0b013e32835a01d9     Document Type: Review

References (21)

1. Cosson L, Toutain A, Simard G, et al. Barth syndrome in a female patient. Mol Genet Metab 2012; 106:115-120
2. Momoi N, Chang B, Takeda I, et al. Differing clinical courses and outcomes in two siblings with Barth syndrome and left ventricular noncompaction. Eur J Pediatr 2012; 171:515-520
3. Sweeney RT, Davis GJ, Noonan JA. Cardiomyopathy of unknown etiology: Barth syndrome unrecognized. Congenit Heart Dis 2008; 3:443-448
4. Reynolds S, Kreider CM, Bendixen R. A mixed-methods investigation of sensory response patterns in Barth syndrome: A clinical phenotype? Am J Med Genet A 2012; 158A:1647-1653
5. Barth PG, Valianpour F, Bowen VM, et al. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update. Am J Med Genet A 2004; 126A:349-354
6. Hastings R, Steward C, Tsai-Goodman B, Newbury-Ecob R. Dysmorphology of Barth syndrome. Clin Dysmorphol 2009; 18:185-187
7. Raches D, Mazzocco MM. Emergence and nature of mathematical difficulties in young children with Barth syndrome. J Dev Behav Pediatr 2012; 33:328- 335
8. McCanta AC, Chang AC, Weiner K. Cardiomyopathy in a child with neutropenia and motor delay. Curr Opin Pediatr 2008; 20:605-607
9. Kuijpers TW, Maianski NA, Tool AT, et al. Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis. Blood 2004; 103:3915-3923
10. van Raam BJ, Kuijpers TW. Mitochondrial defects lie at the basis of neutropenia in Barth syndrome. Curr Opin Hematol 2009; 16:14-19
11. Brandner K, Mick DU, Frazier AE, et al. Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: Implications for Barth Syndrome. Mol Biol Cell 2005; 16:5202-5214
12. McKenzie M, Lazarou M, Thorburn DR, Ryan MT. Mitochondrial respiratory chain supercomplexes are destabilized in Barth syndrome patients. J Mol Biol 2006; 361:462-469
13. Makaryan V, KulikW, Vaz FM, et al. The cellular and molecular mechanisms for neutropenia in Barth syndrome. Eur J Haematol 2012; 88:195- 209
14. Acehan D, Vaz F, Houtkooper RH, James J, et al. Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome. J Biol Chem 2011; 286:899-908
15. Wilson LD, Al-Majid S, Rakovsky C, Schwindt CD. Higher IL-6 and IL6:IGF ratio in patients with Barth syndrome. J Inflamm (Lond) 2012; 9:25
16. Cade WT, Spencer CT, Reeds DN, et al. Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndrome. J Inherit Metab Dis 2012. [Epub ahead of print]
17. Barth PG, Scholte HR, Berden JA, et al. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci 1983; 62:327-355
18. Acehan D, Xu Y, Stokes DL, Schlame M. Comparison of lymphoblast mitochondria from normal subjects and patients with Barth syndrome using electron microscopic tomography. Lab Invest 2007; 87:40-48
19. Houtkooper RH, Rodenburg RJ, Thiels C, et al. Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using highperformance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome. Anal Biochem 2009; 387:230-237
20. Kulik W, van Lenthe H, Stet FS, et al. Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome. ClinChem2008; 54:371- 378
21. Hanke SP, Gardner AB, Lombardi JP, et al. Left ventricular noncompaction cardiomyopathy in Barth syndrome: An example of an undulating cardiac phenotype necessitating mechanical circulatory support as a bridge to transplantation. Pediatr Cardiol 2012. [Epub ahead of print]