Highlights of Clinical KnowledgeMichael Foley2022-04-26T12:22:27+00:00
Highlights of Clinical Knowledge
* denotes publications that acknowledge financial support contributed by BSF and/or BSF Affiliates.
▼ denotes publications that acknowledge biological samples (and/or information) from Barth families, the Barth Syndrome Registry and Repository (BRR), and/or BSF affiliates.
A blue/grey highlight denotes publications that may be most relevant in an emergent situation.
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.
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) *▼
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.
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.
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.
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.
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.
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.
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) *▼
Quality of life for youth with Barth syndrome lower than that for healthy individuals and for those with cardiac disease alone.
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.
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) *▼
Risk of serious arrhythmias and sudden cardiac death documented in adolescent Barth syndrome patients.
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