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长 QT 综合征与运动实践:永无止境的争论。

The long-QT syndrome and exercise practice: The never-ending debate.

机构信息

Electrophysiology Unit, Clinica Montevergine, Mercogliano, Italy.

Arrhythmia Section, Cardiology Department, Hospital Clínic, IDIBAPS, University of Barcelona, Barcelona, Spain.

出版信息

J Cardiovasc Electrophysiol. 2018 Mar;29(3):489-496. doi: 10.1111/jce.13410. Epub 2018 Jan 24.

Abstract

Today, understanding the true risk of adverse events in long-QT syndrome (LQTS) populations may be extremely complex and potentially dependent on many factors such as the affected gene, mutation location, degree of QTc prolongation, age, sex, and other yet unknown factors. In this context, risk stratification by genotype in LQTS patients has been extremely difficult, also during exercise practice, especially due to the lack of studies that would lead to a better understanding of the natural history of each mutation and its impact upon athletes. The creation of individualized guidelines for sport participation is a goal yet to be achieved not only due to the complexity of genotype effect on the phenotype in this patient population, but also due to penetrance in genotype-positive patients. This article summarizes current knowledge and raises questions concerning the difficult relationship between exercise practice and LQTS.

摘要

今天,了解长 QT 综合征(LQTS)人群中不良事件的真正风险可能极其复杂,并且可能取决于许多因素,例如受影响的基因、突变位置、QTc 延长程度、年龄、性别和其他未知因素。在这种情况下,LQTS 患者的基因型风险分层极其困难,即使在运动实践中也是如此,这主要是由于缺乏研究,导致人们对每种突变的自然病史及其对运动员的影响缺乏更好的了解。制定个体化的运动参与指南是一个尚未实现的目标,这不仅是因为基因型对该患者群体表型的影响的复杂性,还因为基因型阳性患者的外显率。本文总结了目前的知识,并提出了有关运动实践与 LQTS 之间困难关系的问题。

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