Xiao Rui, Darr Haleema, Khan Zarif, Xiao Qingzhong
Norfolk and Norwich University Hospital NHS Foundation Trust, Colney Ln, Norwich NR4 7UY, UK.
University Hospital Coventry and Warwickshire, Clifford Bridge Rd, Coventry CV2 2DX, UK.
Cells. 2025 Sep 6;14(17):1396. doi: 10.3390/cells14171396.
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease affecting 2-3 neonates every 10,000 live births. While prior research has highlighted associations of HLHS with specific chromosomal abnormalities and genetic mutations, the precise pathophysiology remains elusive. Despite early surgical intervention potentially allowing most HLHS patients to survive their critical heart disease with a single-ventricle physiology, patients frequently experience complications of arrhythmias and right ventricular heart failure, culminating in the need for an eventual heart transplant. Scarcity of suitable donors combined with limited understanding of mechanisms of development highlights the need for furthering our understanding of HLHS and alternative treatment options. Over the past decades, stem cell research has significantly advanced our understanding of cardiac conditions, repair, development, and therapy, opening the door for a new exciting field of regenerative medicine in cardiology with significant implications for HLHS. This review serves to provide a comprehensive overview of a much focused-on area related to HLHS. Specifically, we will first discuss the key pathophysiological basis and signalling molecules of HLHS. We then outline the emerging role of stem cell-based therapy, with a focus on adult stem cells and pluripotent stem cells (PSCs) in uncovering the pathophysiology of HLHS and optimising future treatment directions. Finally, we will also explore the latest and possible future directions of stem cell-derived techniques such as cardiac organoids and bioengineering cardiac tissues and their utility for investigating disease mechanisms, drug screening, and novel therapy for HLHF.
左心发育不全综合征(HLHS)是一种严重的先天性心脏病,每10000例活产中有2 - 3例新生儿受其影响。尽管先前的研究强调了HLHS与特定染色体异常和基因突变的关联,但其确切的病理生理学仍不清楚。尽管早期手术干预可能使大多数HLHS患者以单心室生理状态存活过严重的心脏病,但患者经常会出现心律失常和右心室心力衰竭等并发症,最终需要进行心脏移植。合适供体的稀缺以及对发育机制的有限了解凸显了进一步了解HLHS和探索替代治疗方案的必要性。在过去几十年中,干细胞研究极大地推进了我们对心脏疾病、修复、发育和治疗的理解,为心脏病学中一个令人兴奋的再生医学新领域打开了大门,这对HLHS具有重要意义。本综述旨在全面概述与HLHS密切相关的一个重点领域。具体而言,我们将首先讨论HLHS的关键病理生理基础和信号分子。然后我们概述基于干细胞治疗的新兴作用,重点是成体干细胞和多能干细胞(PSC)在揭示HLHS病理生理学和优化未来治疗方向方面的作用。最后,我们还将探索干细胞衍生技术的最新及可能的未来方向,如心脏类器官和生物工程心脏组织及其在研究疾病机制、药物筛选和HLHF新疗法方面的应用。