Key result
Genetic screening reveals no known mutations in a fetal case of noncompaction ventricular myocardium.
Why the study?
The genetic and morphological characteristics of noncompaction ventricular myocardium in a fetus with progressive hydrops and cardiomegaly were not fully understood.
Case Report (n=1)
Noncompaction ventricular myocardium in a fetus with reversed pulmonary artery flow was not associated with known mutations in six candidate genes, suggesting alternative genetic or hemodynamic etiologies.
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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Grebe et al. (2006) conducted a case report in Noncompaction of the ventricular myocardium (n=1). Genetic screening and postmortem morphological examination was evaluated on Morphological diagnosis and presence of genetic mutations. Morphological diagnosis of a 22-week fetus with reversed pulmonary artery flow confirmed noncompaction ventricular myocardium, but screening of six associated genes revealed no known mutations.
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