Departments of Pathology & Laboratory Medicine, Cumming School of Medicine, University of Calgary, Alberta, Canada.
Departments of Pediatrics, Cumming School of Medicine, University of Calgary, Alberta, Canada.
Fetal Pediatr Pathol. 2023 Jun;42(3):464-471. doi: 10.1080/15513815.2022.2120785. Epub 2023 Jan 11.
: Noncompaction of ventricular myocardium is a cardiomyopathy that typically involves the left ventricle or both ventricles; it has often been associated with mutations in genes encoding sarcomere proteins. Little is known about isolated right ventricular noncompaction, as only a few cases have been reported. A 30 year old G2P1 woman experienced a spontaneous fetal loss at 19 weeks and 4 days. An ultrasound examination at 19 weeks showed right ventricular and tricuspid valve abnormalities, ascites, and early hydrops. At autopsy, the right ventricular chamber was dilated with numerous prominent trabeculations and deep intrabecular recesses as well as a dysplastic tricuspid valve. Histologic examination confirmed isolated right ventricular noncompaction. Whole exome sequencing showed a likely pathogenic variant in the gene. This appears to be the first report of isolated right ventricular noncompaction associated with a gene mutation as well as the first diagnosis in a fetus.
心室心肌致密化不全是一种心肌病，通常累及左心室或双心室；它常与编码肌节蛋白的基因突变有关。孤立性右心室心肌致密化不全知之甚少，因为仅报道了少数病例。一位 G2P1 的 30 岁女性在 19 周零 4 天时经历了自然流产。19 周时的超声检查显示右心室和三尖瓣异常、腹水和早期水肿。尸检显示右心室扩张，有许多明显的小梁和深小梁间凹陷，以及发育不良的三尖瓣。组织学检查证实为孤立性右心室心肌致密化不全。全外显子组测序显示 基因中存在一种可能的致病性变异。这似乎是首例与基因突变相关的孤立性右心室心肌致密化不全以及首例胎儿诊断的报道。
