| Reversed pulmonary artery flow in isolated noncompaction of the ventricular myocardium. | |
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MedLine Citation:
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PMID: 17003552 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To investigate the morphology and genetics of a fetus at 22 weeks. This fetus demonstrated progressive fetal hydrops and cardiomegaly with retrograde flow in the pulmonary artery and progressive myocardial deterioration and heart failure. METHODS: Postmortem examination, light and electron microscopy of the myocardium, karyotyping, fetal DNA analysis, screening for mutations in the G4.5 gene, alpha-dystrobrevin gene, FKBP 12 gene, Desmin, Syntrophin and Cypher/ZASP genes, which have been described as being associated with noncompaction ventricular myocardium, using single-strand DNA conformation polymorphism analysis and DNA sequencing. RESULTS: The morphological diagnosis was compatible with noncompaction ventricular myocardium or spongyforme myopathy. The karyotype was normal. Mutation analysis in exons and introns of all six genes did not show any known mutation. CONCLUSION: Noncompaction ventricular myocardium or spongyforme myopathy may be associated with mutations in genes which have previously not been thought to be associated with this phenotype. Alternatively, this disease could be the result of abnormal cardiac hemodynamics. |
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Authors:
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Sandra Grebe; Fukiko Ichida; Ralph Grabitz; Burkhard Bültmann; Simone Heideman; Constantin S von Kaisenberg |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2006-09-21 |
Journal Detail:
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Title: Fetal diagnosis and therapy Volume: 22 ISSN: 1015-3837 ISO Abbreviation: Fetal. Diagn. Ther. Publication Date: 2007 |
Date Detail:
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Created Date: 2006-12-28 Completed Date: 2007-02-06 Revised Date: 2007-05-31 |
Medline Journal Info:
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Nlm Unique ID: 9107463 Medline TA: Fetal Diagn Ther Country: Switzerland |
Other Details:
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Languages: eng Pagination: 29-32 Citation Subset: IM |
Affiliation:
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Department of Obstetrics and Gynecology, University of Schleswig-Holstein, Campus Kiel, Kiel, Germany. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Cardiomegaly / pathology DNA Mutational Analysis Female Heart Defects, Congenital / genetics, pathology*, physiopathology Heart Ventricles / pathology* Humans Hydrops Fetalis / pathology Myocardium / pathology* Pregnancy Pulmonary Artery / physiopathology* |
| Comments/Corrections | |
Comment In:
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Fetal Diagn Ther. 2007;22(3):238-9; author reply 239-40
[PMID:
17245106
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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