孤立性心室心肌致密化不全中的肺动脉血流逆转
Reversed pulmonary artery flow in isolated noncompaction of the ventricular myocardium.
作者信息
Grebe Sandra, Ichida Fukiko, Grabitz Ralph, Bültmann Burkhard, Heideman Simone, von Kaisenberg Constantin S
机构信息
Department of Obstetrics and Gynecology, University of Schleswig-Holstein, Campus Kiel, Kiel, Germany.
出版信息
Fetal Diagn Ther. 2007;22(1):29-32. doi: 10.1159/000095839. Epub 2006 Sep 21.
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.
目的
研究一名22周胎儿的形态学和遗传学特征。该胎儿表现为进行性胎儿水肿、心脏肥大，肺动脉出现逆流，心肌进行性恶化并伴有心力衰竭。
方法
进行尸体解剖、心肌的光镜和电镜检查、染色体核型分析、胎儿DNA分析，使用单链DNA构象多态性分析和DNA测序技术，筛查与心肌致密化不全相关的G4.5基因、α - 肌营养不良蛋白基因、FKBP 12基因、结蛋白、肌营养不良蛋白聚糖和Cypher/ZASP基因的突变。
结果
形态学诊断符合心肌致密化不全或海绵状肌病。染色体核型正常。对所有六个基因的外显子和内含子进行突变分析，未发现任何已知突变。
结论
心肌致密化不全或海绵状肌病可能与先前认为与该表型无关的基因突变有关。或者，这种疾病可能是心脏血流动力学异常的结果。
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