Hinton Robert B, Ware Stephanie M
From the Department of Pediatrics and Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis.
Circ Res. 2017 Mar 17;120(6):978-994. doi: 10.1161/CIRCRESAHA.116.308996.
Heart failure (HF) is a complex clinical syndrome resulting from diverse primary and secondary causes and shared pathways of disease progression, correlating with substantial mortality, morbidity, and cost. HF in children is most commonly attributable to coexistent congenital heart disease, with different risks depending on the specific type of malformation. Current management and therapy for HF in children are extrapolated from treatment approaches in adults. This review discusses the causes, epidemiology, and manifestations of HF in children with congenital heart disease and presents the clinical, genetic, and molecular characteristics that are similar or distinct from adult HF. The objective of this review is to provide a framework for understanding rapidly increasing genetic and molecular information in the challenging context of detailed phenotyping. We review clinical and translational research studies of HF in congenital heart disease including at the genome, transcriptome, and epigenetic levels. Unresolved issues and directions for future study are presented.
心力衰竭(HF)是一种复杂的临床综合征,由多种原发性和继发性病因以及共同的疾病进展途径引起,与高死亡率、发病率和成本相关。儿童HF最常见的原因是并存的先天性心脏病,其风险因畸形的具体类型而异。目前儿童HF的管理和治疗方法是从成人治疗方法推断而来的。本综述讨论了先天性心脏病患儿HF的病因、流行病学和表现,并介绍了与成人HF相似或不同的临床、遗传和分子特征。本综述的目的是在详细表型分析这一具有挑战性的背景下,提供一个理解快速增长的遗传和分子信息的框架。我们综述了先天性心脏病HF的临床和转化研究,包括基因组、转录组和表观遗传水平的研究。还提出了未解决的问题和未来研究的方向。