| Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. | |
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MedLine Citation:
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PMID: 20812380 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: Barth Syndrome (BTHS) is an X-linked multisystem disorder (OMIM 302060) usually diagnosed in infancy and characterized by cardiac problems [dilated cardiomyopathy (DCM) ± endocardial fibroelastosis (EFE) ± left ventricular non-compaction (LVNC)], proximal myopathy, feeding problems, growth retardation, neutropenia, organic aciduria and variable respiratory chain abnormalities. We 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. METHOD: Case note review on 19 families originating from the UK and known to the Barth Syndrome Service of the Bristol Royal Hospital for Children. RESULTS: Details are presented on six kindreds (32%) with genetically and biochemically proven BTHS that demonstrate a wider phenotype including male fetal loss, stillbirth and severe neonatal illness or death. In these families, 9 males were stillborn and 14 died as neonates or infants but there were no losses of females. BTHS was definitively proven in five males with fetal onset of DCM ± hydrops/EFE/LVNC. CONCLUSION: These findings stress the importance of considering BTHS in the differential diagnosis of unexplained male hydrops, DCM, EFE, LVNC or pregnancy loss, as well as in neonates with hypoglycemia, lactic acidosis and idiopathic mitochondrial disease. |
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Authors:
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C G Steward; R A Newbury-Ecob; R Hastings; S F Smithson; B Tsai-Goodman; O W Quarrell; W Kulik; R Wanders; M Pennock; M Williams; J L Cresswell; I L Gonzalez; P Brennan |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Prenatal diagnosis Volume: 30 ISSN: 1097-0223 ISO Abbreviation: Prenat. Diagn. Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-09-29 Completed Date: 2011-01-13 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: England |
Other Details:
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Languages: eng Pagination: 970-6 Citation Subset: IM |
Copyright Information:
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© 2010 John Wiley & Sons, Ltd. |
Affiliation:
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Department of Paediatric Haematology, Oncology & BMT, Royal Hospital for Children, Upper Maudlin St, Bristol, UK. colin.steward@bristol.ac.uk |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Barth Syndrome
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epidemiology,
genetics*,
pathology Biological Markers / blood Cardiolipins / blood Cardiomyopathy, Dilated / epidemiology, genetics*, pathology Chromosomes, Human, X / genetics* Cohort Studies Endocardial Fibroelastosis / epidemiology, genetics, pathology Female Fetal Death / epidemiology, genetics* Fetal Diseases / epidemiology, genetics*, pathology Great Britain / epidemiology Humans Isolated Noncompaction of the Ventricular Myocardium / epidemiology, genetics, pathology Lysophospholipids / blood Male Pedigree Sequence Analysis, DNA Sex Factors Stillbirth / epidemiology, genetics* Transcription Factors / genetics |
| Chemical | |
Reg. No./Substance:
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0/Biological Markers; 0/Cardiolipins; 0/Lysophospholipids; 0/TAZ protein, human; 0/Transcription Factors; 0/monolysocardiolipin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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