Männer Jörg
Group Cardio-Embryology, Institute of Anatomy and Embryology UMG, Georg August University Göttingen, D-37075 Göttingen, Germany.
J Cardiovasc Dev Dis. 2019 Nov 8;6(4):40. doi: 10.3390/jcdd6040040.
The outer shape of most vertebrates is normally characterized by bilateral symmetry. The inner organs, on the other hand, are normally arranged in bilaterally asymmetric patterns. Congenital deviations from the normal organ asymmetry can occur in the form of mirror imagery of the normal arrangement (situs inversus), or in the form of arrangements that have the tendency for the development of bilateral symmetry, either in a pattern of bilateral left-sidedness (left isomerism) or bilateral right-sidedness (right isomerism). The latter two forms of visceral situs anomalies are called "heterotaxy syndromes". During the past 30 years, remarkable progress has been made in uncovering the genetic etiology of heterotaxy syndromes. However, the pathogenetic mechanisms causing the spectrum of cardiovascular defects found in these syndromes remain poorly understood. In the present report, a spontaneous case of left cardiac isomerism found in an HH-stage 23 chick embryo is described. The observations made in this case confirmed the existence of molecular isomerism in the ventricular chambers previously noted in mouse models. They, furthermore, suggest that hearts with left cardiac isomerism may have the tendency for the development of non-compaction cardiomyopathy caused by defective development of the proepicardium.
大多数脊椎动物的外形通常以双侧对称作为特征。另一方面,其内部器官通常以双侧不对称的模式排列。先天性的器官不对称偏离可表现为正常排列的镜像形式(内脏反位),或者表现为具有发展为双侧对称趋势的排列形式,即双侧左侧化模式(左位异构)或双侧右侧化模式(右位异构)。后两种内脏位置异常形式被称为“内脏异位综合征”。在过去30年里,在揭示内脏异位综合征的遗传病因方面取得了显著进展。然而,导致这些综合征中心血管缺陷谱的发病机制仍知之甚少。在本报告中,描述了在HH期23的鸡胚中发现的一例自发性左位异构病例。该病例中的观察结果证实了先前在小鼠模型中所发现的心室分子异构的存在。此外,这些观察结果表明,具有左位异构的心脏可能有因心外膜发育缺陷而发展为致密化不全型心肌病的倾向。