Kaponov Kh, Goranov K
Vutr Boles. 1975;14(5):56-9.
The authors describe five patients from two families with idiopathic hypertrophic subaortic stenosis, among them a brother and sister -- twins. Based on literature data and their experience, they stress the importance of the clinical and electromechanocardiographic criteria in the diagnosis of the family form of that disease, prior to the direct cardiac examination. The possible mechanisms in the genesis of predominantly local septum hypertrophia and left ventricle are discussed, an explanation being sought in the genetically conditioned changes of mitochondria and plentiful utilization of adenosine triphosphate by the defective myofibrils. Autosome mode of handing down with an incomplete penetration of the dominant gen is admitted. The differentitation of the family form of idiopathic hypertrophic subaortic stenosis is backed up as a separate nozological entiety bearing in mind another possible etiopathogenetic mechanism.
作者描述了来自两个家族的5例特发性肥厚性主动脉瓣下狭窄患者,其中有一对双胞胎兄妹。基于文献数据和他们自己的经验,他们强调在直接心脏检查之前,临床和心电图标准在诊断该疾病家族型中的重要性。文中讨论了主要局限性室间隔肥厚和左心室形成的可能机制,试图从线粒体的基因条件性变化以及有缺陷的肌原纤维对三磷酸腺苷的大量利用方面寻找解释。承认其遗传方式为常染色体显性遗传且显性基因有不完全外显。考虑到另一种可能的病因发病机制,特发性肥厚性主动脉瓣下狭窄家族型作为一种独立的病种得到了确认。