Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review

European Journal of Pediatrics

Volumn 167, Issue 8, 2008, Pages 941-944

  Yen, Ting Yu ^a   Hwu, Wuh Liang ^a   Chien, Yin Hsiu ^a   Wu, Mei Hwan ^a   Lin, Ming Tai ^a   Tsao, Lon Yen ^b   Hsieh, Wu Shiun ^a   Lee, Ni Chung ^a  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b CHANGHUA CHRISTIAN HOSPITAL   (Taiwan)

Author keywords

Barth syndrome; Lactic acidosis; Left ventricle noncompaction; Metabolic decompensation

Indexed keywords

CARDIOLIPIN;

ARTICLE; BARTH SYNDROME; CASE REPORT; DIAGNOSTIC PROCEDURE; ECHOCARDIOGRAPHY; GENE MUTATION; HUMAN; LACTIC ACIDOSIS; MALE; METABOLIC DISORDER; PHOSPHOLIPID METABOLISM; PRESCHOOL CHILD; PRIORITY JOURNAL; SUDDEN DEATH;

ACIDOSIS, LACTIC; CARDIOMYOPATHY, DILATED; DEATH, SUDDEN; HEART VENTRICLES; HUMANS; HYPERAMMONEMIA; HYPOGLYCEMIA; INFANT; MALE; METABOLISM, INBORN ERRORS; MITOCHONDRIAL DISEASES; SYNDROME; TRANSCRIPTION FACTORS;

EID: 46149090364     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-007-0592-y     Document Type: Article

References (17)

1. Alberio S, Mineri R, Tiranti V, Zeviani M (2007) Depletion of mtDNA: syndromes and genes. Mitochondrion 7:6-12
2. Barth PG, Valianpour F, Bowen VM, Lam J, Duran M, Vaz FM, Wanders RJ (2004) X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet A 126:349-354
3. Bleyl SB, Mumford BR, Brown-Harrison MC, Pagotto LT, Carey JC, Pysher TJ, Ward K, Chin TK (1997) Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals. Am J Med Genet 72:257-265
4. Bleyl SB, Mumford BR, Thompson V, Carey JC, Pysher TJ, Chin TK, Ward K (1997) Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am J Hum Genet 61:868-872
5. Brady AN, Shehata BM, Fernhoff PM (2006) X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene. Prenat Diagn 26:462-465
6. Caforio AL, Mahon NG, Baig MK, Tona F, Murphy RT, Elliott PM, McKenna WJ (2007) Prospective familial assessment in dilated cardiomyopathy: cardiac autoantibodies predict disease development in asymptomatic relatives. Circulation 115:76-83
7. Cantlay AM, Shokrollahi K, Allen JT, Lunt PW, Newbury-Ecob RA, Steward CG (1999) Genetic analysis of the G4.5 gene in families with suspected Barth syndrome. J Pediatr 135:311-315
8. Chen R, Tsuji T, Ichida F, Bowles KR, Yu X, Watanabe S, Hirono K, Tsubata S, Hamamichi Y, Ohta J, Imai Y, Bowles NE, Miyawaki T, Towbin JA (2002) Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction. Mol Genet Metab 77:319-325
9. Claypool SM, McCaffery JM, Koehler CM (2006) Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzins. J Cell Biol 174:379-390
10. Donati MA, Malvagia S, Pasquini E, Morrone A, La Marca G, Garavaglia B, Toniolo D, Zammarchi E (2006) Barth syndrome presenting with acute metabolic decompensation in the neonatal period. J Inherit Metab Dis 29:684
11. Kelley RI, Cheatham JP, Clark BJ, Nigro MA, Powell BR, Sherwood GW, Sladky JT, Swisher WP (1991) X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr 119:738-747
12. Mahon NG, Madden BP, Caforio AL, Elliott PM, Haven AJ, Keogh BE, Davies MJ, McKenna WJ (2002) Immunohistologic evidence of myocardial disease in apparently healthy relatives of patients with dilated cardiomyopathy. J Am Coll Cardiol 39:455-462
13. Mangat J, Lunnon-Wood T, Rees P, Elliott M, Burch M (2007) Successful cardiac transplantation in Barth syndrome-single-centre experience of four patients. Pediatr Transplant 11:327-331
14. Marziliano N, Mannarino S, Nespoli L, Diegoli M, Pasotti M, Malattia C, Grasso M, Pilotto A, Porcu E, Raisaro A, Raineri C, Dore R, Maggio PP, Brega A, Arbustini E (2007) Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes. Am J Med Genet A 143:907-915
15. Rugolotto S, Prioli MD, Toniolo D, Pellegrino P, Catuogno S, Burlina AB (2003) Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study. Mol Genet Metab 80:408-411
16. Schmidt MR, Birkebaek N, Gonzalez I, Sunde L (2004) Barth syndrome without 3-methylglutaconic aciduria. Acta Paediatr 93:419-421
17. Szulik M, Lenarczyk A, Rycaj J, Bialkowski J, Dziubek B, Kalarus Z, Kukulski T (2006) Isolated non-compaction of the left ventricular myocardium in a neonate-a case report. Kardiol Pol 64:1422-1425