二尖瓣发育和脱垂的遗传学特征研究进展。

Update on the genetic profile of mitral valve development and prolapse.

机构信息

Department of Adult and Children Cardiovascular Recovery, Emergency Institute for Cardio-Vascular Diseases and Transplantation, Targu Mures 540139, Romania; Department of Pathology, George Emil Palade University of Medicine, Pharmacy, Science and Technology, Targu Mures , Romania; Department of Cardiovascular Surgery, Emergency University Hospital, Romania.

Department of Surgery, George Emil Palade University of Medicine, Pharmacy, Sciences and Technology, Targu Mures 540139, Romania; Romanian Academy of Medical Sciences, Romania; Department of Cardiovascular Surgery, Emergency University Hospital, Romania.

出版信息

Pathol Res Pract. 2024 Oct;262:155535. doi: 10.1016/j.prp.2024.155535. Epub 2024 Aug 13.

DOI:10.1016/j.prp.2024.155535

PMID:39182449

Abstract

The purpose of this review is to present a comprehensive overview of the literature published up to February 2024 on the PubMed database regarding the development of mitral valve disease, with detailed reference to mitral valve prolapse, from embryology to a genetic profile. Out of the 3291 publications that deal with mitral valve embryology, 215 refer to mitral valve genetics and 83 were selected for further analysis. After reviewing these data, we advocate for the importance of a gene-based therapy that should be available soon, to prevent or treat non-invasively the valvular degeneration.

摘要

本次综述的目的是呈现截至 2024 年 2 月在 PubMed 数据库上发表的关于二尖瓣疾病发展的文献综述，详细介绍从胚胎学到遗传特征的二尖瓣脱垂。在涉及二尖瓣胚胎学的 3291 篇出版物中，有 215 篇涉及二尖瓣遗传学，其中 83 篇被选作进一步分析。在审查这些数据后，我们主张基于基因的治疗方法的重要性，该方法应很快就能获得，以便预防或无创性治疗瓣膜退化。