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心脏病的分子生物学。心脏肥大、家族性肥厚型心肌病、长QT综合征和马凡综合征病理生理基础概述。

Molecular biology of heart disease. Synopsis of the pathophysiological basis of cardiac hypertrophy, familial hypertrophic cardiomyopathy, long QT syndrome and Marfan syndrome.

作者信息

Kurabayashi M, Yazaki Y

机构信息

Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo.

出版信息

Intern Med. 1996 Apr;35(4):243-8. doi: 10.2169/internalmedicine.35.243.

Abstract

Cardiovascular disease is the one of the most important causes of morbidity and mortality throughout the world. Despite the advances in technology in the surgical or interventional therapies, complete understanding of the causes and pathogenesis of the disease is imperative to develop specific therapeutic modalities tailored to those underlying abnormalities. Recent progress in molecular biology has markedly expanded our knowledge of the pathophysiology of many cardiovascular diseases. Such an evolution of the basis science of cardiovascular medicine will allow the physician to treat the primary dysfunction rather than treating secondary manifestations. This review is designed to illustrate the impact of molecular biology on cardiovascular medicine with an emphasis on the pathogenesis of cardiac hypertrophy, and identification of the genes responsible for familial hypertrophic cardiomyopathy, long QT syndrome, and inherited vasculopathies such as Marfan syndrome.

摘要

心血管疾病是全球发病和死亡的最重要原因之一。尽管手术或介入治疗技术取得了进展,但要开发针对这些潜在异常的特定治疗方法,全面了解该疾病的病因和发病机制至关重要。分子生物学的最新进展显著扩展了我们对许多心血管疾病病理生理学的认识。心血管医学基础科学的这种演变将使医生能够治疗原发性功能障碍,而不是治疗继发性表现。本综述旨在阐述分子生物学对心血管医学的影响,重点关注心脏肥大的发病机制,以及鉴定导致家族性肥厚型心肌病、长QT综合征和遗传性血管病变(如马凡综合征)的基因。

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