Department of Legal Medicine, Faculty of Medicine, University of Toyama, Toyama, Japan.
Department of Cardiovascular Medicine, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan.
Cardiovasc Pathol. 2022 Nov-Dec;61:107462. doi: 10.1016/j.carpath.2022.107462. Epub 2022 Aug 9.
A 45-year-old man was clinically diagnosed with mitral valve regurgitation 2 years before death. The autopsy showed left ventricular hypertrophy and mitral valve prolapse of the bileaflet with billowing valve and excessively thickened leaflet, the findings of which were consistent with Barlow's disease. Microscopically, destruction of the 3-layer structure of the mitral valve and advanced interstitial fibrosis of the left ventricular wall were evident. Additionally, a marked but limited reduction in conduction fibers was found in the branching point of the left and right branches, as seen in cases of idiopathic complete atrioventricular block. Genetic investigation using whole-exome sequencing showed some genetic variants with uncertain significance. In patients with Barlow's disease, a marked reduction of conduction fibers might be a subtype of sudden cardiac death. The overlap of some arrhythmogenic substrate in the heart may increase the risk of sudden cardiac death with asymptomatic Barlow's disease.
一名 45 岁男性在死亡前 2 年被临床诊断为二尖瓣反流。尸检显示左心室肥厚和二尖瓣双叶脱垂，瓣叶呈波浪状，瓣叶过度增厚，这些发现与巴洛氏病一致。显微镜下，二尖瓣的 3 层结构破坏和左心室壁的间质纤维化明显。此外，在左、右分支的分叉处发现传导纤维明显但有限减少，这在特发性完全性房室传导阻滞中可见。全外显子组测序的基因研究显示了一些具有不确定意义的遗传变异。在巴洛氏病患者中，传导纤维的明显减少可能是心源性猝死的一个亚型。心脏中一些心律失常基质的重叠可能会增加无症状巴洛氏病患者心源性猝死的风险。
