Schunkert H
Klinik und Poliklinik für Innere Medizin II, Universität Regensburg, Germany.
Scand Cardiovasc J Suppl. 1998;47:37-43. doi: 10.1080/140174398428036.
The manifestation of congestive heart failure occurs secondary to a great variety of cardiac or systemic disorders that share a temporal or permanent loss of cardiac function. In order to enhance our knowledge about the genetics of heart failure it is mandatory to analyse the aetiologic factors of these underlying disorders separately. Monogenic forms of congestive heart failure have initially been described by observant physicians in consecutive generations of affected families. Molecular genetic analyses of these families subsequently allowed us to localise and identify some of the genes that cause hypertrophic, dilative, or restrictive cardiomyopathies, congenital heart disease, as well as a number of inborn errors of metabolism. However, the great majority of patients develops heart failure as a final consequence of multifactorial conditions such as hypertension, cardiac hypertrophy, or coronary artery disease. Each of these conditions may be the product of a complex equation that includes environmental and genetic factors. Indeed, some of these factors may be harmful, others protective and for most it takes decades before a phenotype will be clinically detectable. Given this complex scenario it was not unexpected that early studies on candidate genes came up with partially controversial information. This review aims to summarize and to comment on the principal findings of this work.
充血性心力衰竭的表现继发于多种心脏或全身性疾病，这些疾病共同导致心脏功能暂时或永久性丧失。为了增进我们对心力衰竭遗传学的了解，必须分别分析这些潜在疾病的病因。充血性心力衰竭的单基因形式最初是由细心的医生在连续几代受影响的家庭中描述的。随后对这些家庭进行的分子遗传学分析使我们能够定位和识别一些导致肥厚性、扩张性或限制性心肌病、先天性心脏病以及一些先天性代谢缺陷的基因。然而，绝大多数患者最终因高血压、心脏肥大或冠状动脉疾病等多因素疾病而发展为心力衰竭。这些情况中的每一种都可能是一个复杂方程式的结果，该方程式包括环境和遗传因素。事实上，其中一些因素可能有害，另一些则具有保护作用，而且大多数情况下，在临床上可检测到表型之前需要数十年时间。鉴于这种复杂情况，早期对候选基因的研究得出部分有争议的信息也就不足为奇了。本综述旨在总结并评论这项工作的主要发现。
