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Highlights of Clinical Knowledge

This document is out of date and will be updated. In the meantime, please see BSF.


* Publications that acknowledge financial support contributed by BSF and/or BSF Affiliates.


▼Publications that acknowledge biological samples (and/or information) from Barth families, the Barth Syndrome Registry and Repository (BRR), and/or BSF affiliates.


Blue highlights: Publications that may be most relevant in an emergent situation.


1981 and 1983

An X-linked mitochondrial disease affecting cardiac muscle,skeletal muscle, and neutrophil leucocytes. First mentioned in 1981, and then fully described in 1983 by Peter Barth (pediatric neurologist).


Barth PG, Scholte HR, Berden JA, Van dK-VMJM, Luyt-Houwen IE, Van tV-KET, Van dHJJ, Sobotka-Plojhar MA. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytesJ Neur Sc 1983; 62:327-355. (PubMed Abstract)



3-methylglutaconic aciduria found to be clinical biochemical marker for Barth syndrome.


Kelley RI, Cheatham JP, Clark BJ, Nigro MA, Powell BR, Sherwood GW, Sladky JT, Swisher WP. X-linked dilated cardiomyopathy with neutropenia, growth retardation and 3-methylglutaconic aciduria. J Pediatr 1991; 119(5):738-747. (PubMed Abstract)


G-CSF used successfully to treat neutropenia in Barth syndrome.


Cox GF, Pulsipher M, Rothenberg M, Korson M, Kelley RI. Correction of neutropenia in Barth syndrome by G-CSF. Am J Hum Genet 1995; 57(Suppl):A177.


Female carriers of Barth syndrome asymptomatic due to X-chromosome inactivation.


Orstavik KH, Orstavik RE, Naumova AK, D'LAdamo P, Gedeon A, Bolhuis PA, Barth PG, Toniolo D. X-chromosome inactivation in carriers of Barth syndrome. Am J Hum Genet 1998; 63(5):1457-1463. (PubMed Abstract)



Higher-than-expected unrelated Barth syndrome cases discovered in one hospital in Bristol, UK, indicating an under-diagnosis of this disease.

Cantlay AM, Shokrollahi K, Allen JT, Lunt PW, Newbury-Ecob RA, Steward CG. Genetic analysis of the G4.5 gene in families with suspected Barth syndrome. J Pediatr 1999 Sep;135(3):311-5. Erratum in: J Pediatr 2000 June; 136(1):136. (PubMed Abstract)


Clinical course and treatment of neutropenia in Barth syndrome patients presented.

Zeidler C, Barth PG, Bonilla MA, Bolyard AA, Boxer L, Cottle T, Dale DC, Donadieu J, Fier C, Freedman M, Kannourakis G, Kinsey S, Liang B, Schwinzer B, Welte K, Cham B, for the Severe Chronic Neutropenia International Registry (SCNIR). Neutropenia in Barth syndrome: clinical course and treatment of neutropenia. Blood 2001; 98(11):300a.



Phospholipid abnormalities documented in children with Barth syndrome.

Schlame M, Kelley RI, Feigenbaum A, Towbin JA, Heerdt PM, Schlieble T, Wanders RJ, DiMauro S, Blanck TJ. Phospholipid abnormalities in children with Barth syndrome. J Am Coll Cardiol 2003 Dec 3;42(11):1994-1999. (PubMed Abstract)



Risk of serious arrhythmias and sudden cardiac death documented in adolescent Barth syndrome patients.

Spencer CT, Byrne BJ, Gewitz MH, Wechsler SB, Kao AC, Gerstenfeld EP, Merliss AD, Bryant RM. Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndromePediatr Cardiol. 2005 Sep-Oct;26(5):632-7. (PubMed Abstract) *▼



Barth syndrome clinical phenotype described, based on data from largest cohort of Barth syndrome patients to date.

Spencer CT, Bryant RM, Day J, Gonzalez IL, Colan SD, Thompson WR, Berthy J, Redfearn SP, Byrne BJ. Cardiac and clinical phenotype in Barth syndrome. Pediatrics. 2006 Aug;118(2):e337-46. (PubMed Abstract) *▼


Successful cardiac transplantation in Barth syndrome discussed, along with detailed experience with specific post-transplant medications.

Mangat J, Lunnon-Wood T, Rees P, Elliott M, Burch M. Successful cardiac transplantation in Barth syndrome: Single-centre experience of four patients. Pediatr Transplant 2007 May; 11(3):327-31. (PubMed Abstract)



Barth syndrome screening using bloodspots and HPLC tandem mass spectrometry developed.

Kulik W, van Lenthe H, Stet FS, Houtkooper RH, Kemp H, Stone JE, Steward CG, Wanders RJ, Vaz FM. Bloodspot assay using HPLC tandem mass spectrometry for detection of Barth syndrome. Clin Chem. 2008 Feb;54(2):371-8. (PubMed Abstract) *▼


Quality of life for youth with Barth syndrome lower than that for healthy individuals and for those with cardiac disease alone.

Storch EA, Keeley M, Merlo LJ, St. Amant JB, Jacob M, Storch J, Spencer C, Byrne BJ. Psychosocial functioning in youth with Barth syndrome. Children´s Health Care, Volume 38, Issue 2 April 2009, pp. 137-156. (Abstract) *▼

Common childhood Barth syndrome facial features include tall and broad forehead, round face, prominent chin, full cheeks, large ears and deep-set eyes. Gynoid stature and fat distribution often develop in late puberty.

Hastings R, Steward C, Tsai-Goodman B, Newbury-Ecob R. Dysmorphology of Barth syndrome. Clin Dysmorphol. 2009 Jul 30. (PubMed Abstract) *


First conclusive demonstration given that Barth syndrome can cause male fetal loss and stillbirth in multiple families.

Steward CG, Newbury-Ecob RA, Hastings R, Smithson SF, Tsai-Goodman B, Quarrell OW, Kulik W, Wanders R, Pennock M, Williams M, Cresswell JL, Gonzalez IL, Brennan P. Barth syndrome: An X-linked cause of fetal cardiomyopathy and stillbirth. Prenat Diagn. 2010 Oct;30(10):970-6. (PubMed - Open Access) *▼



Severe exercise intolerance in Barth syndrome is due to both cardiac and skeletal muscle impairments that are consistent with cardiac and skeletal mitochondrial myopathy. These findings provide further insight to the pathophysiology of Barth syndrome.

Spencer CT, Byrne BJ, Bryant RM, Margossian R, Maisenbacher M, Breitenger P, Benni PB, Redfearn S, Marcus E, Cade WT. Impaired cardiac reserve and severely diminished skeletal muscle oxygen utilization mediate exercise intolerance in Barth syndrome. Am J Physiol Heart Circ Physiol. 2011 Nov;301(5):H2122-9. Epub 2011 Aug 26. (PubMed - Open Access) *▼


First case report of female Barth syndrome patient confirmed by genetic analysis.

Cosson L, Toutain A, Simard G, Paoli F, Kulik W, Vaz FM, Blasco H, Chantepie A, Labarthe F. Cosson L, Toutain A, Simard G, Kulik W, Matyas G, Guichet A, Blasco H, Maakaroun-Vermesse Z, Vaillant MC, Le Caignec C, Chantepie A, Labarthe F. Barth syndrome in a female patient. Mol Genet Metab. 2012 May;106(1):115-20. Epub 2012 Jan 24. (ScienceDirect Abstract)

Report of child with Barth syndrome and ‘‘undulating cardiac phenotype” who ultimately developed decompensated heart failure requiring mechanical circulatory support of ventricular assist device as bridge to transplantation. Course was complicated by acute lung injury requiring placement of in-line oxygenator to maintain end-organ function.

Hanke SP, Gardner AB, Lombardi JP, Manning PB, Nelson DP, Towbin JA, Jefferies JL, Lorts A. 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 Dec;33(8):1430-4. Epub 2012 Mar 17. (PubMed Abstract) 

Tafazzin deficiency in this mouse model of BTHS leads to a unique developmental cardiomyopathy characterized by ventricular myocardial hypertrabeculation-noncompaction and early lethality. A central role of cardiolipin and mitochondrial functioning is strongly implicated in cardiomyocyte differentiation and myocardial patterning required for heart development.

Phoon CKL, Acehan D, Schlame M, Stokes DL, Edelman-Novemsky I, Yu D, Xu Y, Viswanathan N, Ren M. Tafazzin knockdown in mice leads to a developmental cardiomyopathy with early diastolic dysfunction preceding myocardial noncompaction. J Am Heart Assoc. 2012 Apr;1(2). (PubMed - Open Access) *▼

Expanded upon existing knowledge of math difficulties reported for BTHS individuals by evaluating the emergence, nature, and trajectory of mathematics difficulties in this population.

Raches D, Mazzocco MM. Emergence and nature of mathematical difficulties in young children with Barth syndrome. J Dev Behav Pediatr. 2012 May;33(4):328-35. (PubMed Abstract) *▼

Basic information that defines problems Barth syndrome individuals face every day — extreme fatigue and its relationship to heart function. We know that Barth syndrome individuals have problems with their heart (cardiomyopathy), however this paper shows that their fatigue also has to do with how muscle cells convert energy into movement.

Cade WT, Spencer CT, Reeds DN, Waggoner AD, O’Connor R, Maisenbacher M, Crowley JR, Byrne BJ, Peterson LR. Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndrome. J Inherit Metab Dis. 2013 Jan;36(1):91-101. Epub 2012 May 12. (PubMed Abstract) *▼

Study conducted to examine prevalence of atypical sensory processing in 21 boys with Barth syndrome and to explore if phenotypic patterns of sensory responsiveness may be useful in early diagnosis. Using mixed methods approach, they found that sensory issues related to feeding and eating were ubiquitous in our sample, with some behaviors such as strong gag reflex identifiable early in development.

Reynolds S, Kreider CM, Bendixen R. A mixed-methods investigation of sensory response patterns in Barth syndrome: A clinical phenotype? Am J Med Genet Part A. 7 Jun 2012 Jul;158A(7):1647-53. (PubMed - Open Access) *▼

Report of family with novel TAZ mutation and clinical spectrum from severe Barth syndrome in infant to skeletal myopathy with LVNC in adult, the oldest individual with Barth syndrome reported.

Ronvelia D, Greenwood J, Platt J, Hakim S, Zaragoza MV. Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle. Mol Genet Metab. 2012 Nov;107(3):428-32. Epub 2012 Sep 18.  (PubMed - Open Access) 

Review article detailing longitudinal data collected, including growth curves, from Barth Syndrome Registry and Repository.

Roberts AE, Nixon C, Steward CG, Gauvreau K, Maisenbacher M, Fletcher M, Geva J, Byrne BJ, Spencer CT. The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study. Am J Med Genet A. 2012 Nov;158A(11):2726-32. Epub 2012 Oct 8. (PubMed - Open Access) *▼


Summary of clinically important information about Barth syndrome.

Vernon HJ,  , Sandlers Y, McClellan R, Kelley RI. Clinical laboratory studies in Barth syndrome. Molecular Genetics and Metabolism (2014), doi: 10.1016/j.ymgme.2014.03.007.

 Summary of clinically important information about Barth syndrome.

Jefferies JL. Barth syndrome. Am J Med Genet C Semin Med Genet. 2013 Aug;163(3):198-205. Epub 2013 Jul 10. (PubMed - Open Access) 


Review of recent advances in understanding molecular and cellular bases of neutropenia in Barth syndrome.

Aprikyan AA, Khuchua Z. Advances in the understanding of Barth syndrome. Br J Haematol. 2013 May;161(3):330-8. Epub 2013 Feb 25. (PubMed Abstract)

Report from French historical experiences with Barth syndrome individuals and how good medical practices contributed to survival.

Rigaud C, Lebre A, Touraine R, Beaupain B, Ottolenghi C, Chabli A, Ansquer H, Ozsahin H, Di Filippo S, De Lonlay P, Borm B, Rivier F, Vaillant M, Mathieu-Dramard M, Goldenberg A, Viot G, Charron P, Rio M, Bonnet D, Donadieu J. Natural history of Barth syndrome: A national cohort study of 22 patients. Orphanet J Rare Dis. 2013 May 8;8:70. (PubMed - Open Access) *▼

Extended use of Berlin Heart EXCOR as bridge to transplant in 3-year old Barth syndrome individual.

Dedieu N, Giardini A, Steward CG, Fenton M, Karimova A, Hsia TY, Burch M. Successful mechanical circulatory support for 251 days in a child with intermittent severe neutropenia due to Barth syndrome. Pediatr Transplant. 2013 Mar;17(2):E46-9. Epub 2012 Nov 28. (PubMed - Open Access)

Clinical report from Italian population detailing six Barth syndrome patients with five harboring new mutations in the tafazzin gene including three deletions.

Ferri L, Donati MA, Funghini S, Malvagia S, Catarzi S, Lugli L, Ragni L, Bertini E, Vaz FM, Cooper DN, Guerrini RR, Morrone A. New clinical and molecular insights on Barth syndrome. Orphanet J Rare Dis. 2013 Feb 14;8(1):27. doi: 10.1186/1750-1172-8-27. (PubMed - Open Access)

Comprehensive review article about Barth syndrome.

Clarke SLN, Bowron A, Gonzalez IL, Groves SJ, Newbury-Ecob R, Clayton N, Martin RP, Tsai-Goodman B, Garratt V, Ashworth M, Bowen VM, McCurdy KR, Damin MK, Spencer CT, Toth MJ, Kelley RI, Steward CG. Barth syndrome. Orphanet Journal of Rare Diseases 2013, 8:23. (PubMed - Open Access) *▼

Case report of two brothers with Barth syndrome demonstrating measurable defects in mitochondrial membrane potential but differing in severity of symptoms including neonatal 3-methylglutaconic aciduria and asymptomatic left ventricular non-compaction.

Karkucinska-Wieckowska A, Trubicka J, Werner B, Kokoszynska K, Pajdowska M, Pronicki M, Czarnowska E, Lebiedzinska M, Sykut-Cegielska J, Ziolkowska L, Jaron W, Dobrzanska A, Ciara E, Wieckowski MR, Pronicka E. Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome. J Inherit Metab Dis. 2013 Jan 30. [Epub ahead of print] (PubMed Abstract) 



*Publications that acknowledge financial support contributed by BSF and/or BSF Affiliates. 

▼Publications that acknowledge biological samples (and/or information) from Barth families, the Barth Syndrome Registry and Repository (BRR), and/or BSF affiliates.


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