Center for Cardiovascular Genetics, Boston Children's Hospital, Harvard Medical School, Boston MA, USA; Department of Cardiology, Hospital Universitario Puerta de Hierro, Madrid, Spain.
Center for Cardiovascular Genetics, Boston Children's Hospital, Harvard Medical School, Boston MA, USA.
Heart Lung Circ. 2023 Jul;32(7):790-797. doi: 10.1016/j.hlc.2023.01.018. Epub 2023 Apr 7.
Over the last three decades, the genetic basis of various inherited arrhythmia syndromes has been elucidated, providing key insights into cardiomyocyte biology and various regulatory pathways associated with cellular excitation, contraction, and repolarisation. As varying techniques to manipulate genetic sequence, gene expression, and different cellular pathways have become increasingly defined and understood, the potential to apply various gene-based therapies to inherited arrhythmia has been explored. The promise of gene therapy has generated significant interest in the medical and lay press, providing hope for sufferers of seemingly incurable disorders to imagine a future without repeated medical intervention, and, in the case of various cardiac disorders, without the risk of sudden death. In this review, we focus on catecholaminergic polymorphic ventricular tachycardia (CPVT), discussing the clinical manifestations, genetic basis, and molecular biology, together with current avenues of research related to gene therapy.
在过去的三十年中,各种遗传性心律失常综合征的遗传基础已经阐明,为心肌细胞生物学和与细胞兴奋、收缩和复极相关的各种调节途径提供了重要的见解。随着操纵遗传序列、基因表达和不同细胞途径的各种技术变得越来越明确和被理解,各种基于基因的治疗遗传性心律失常的潜力也得到了探索。基因治疗的前景在医学和大众媒体中引起了极大的兴趣,为那些患有看似无法治愈的疾病的患者带来了希望,他们可以想象一个不再需要反复医疗干预的未来,在某些心脏疾病的情况下,也可以避免猝死的风险。在这篇综述中,我们重点讨论儿茶酚胺多形性室性心动过速(CPVT),讨论其临床表现、遗传基础和分子生物学,以及与基因治疗相关的当前研究途径。