基因检测对先天性心脏病患者有临床意义吗?

Q2 Medicine

Pediatric Cardiac Surgery Annual Pub Date : 2021-01-01 DOI:10.1053/j.pcsu.2021.04.002

Richard W. Kim MD

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引用次数: 0

摘要

基因诊断正变得越来越复杂，有能力在各种各样的先天性心脏病患者中识别出细微的差异。尽管我们对大多数基因发现的临床后果了解不完全，但某些类型的突变可能对疾病复发和预后有重要影响。考虑遗传缺陷的生物学基础，当已知时，可以在一些患者的临床管理中有用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Is There Any Clinical Utility to Genetic Testing for Patients With Congenital Heart Disease?

Genetic diagnosis is becoming increasingly sophisticated, with the ability to identify even fine differences in patients with a wide variety of congenital heart lesions. Although we have an incomplete understanding of the clinical consequences of most genetic findings, some categories of mutations can have important implications for disease recurrence and prognosis. Consideration of the biology underlying a genetic deficiency, when known, can be useful in the clinical management of some patients.

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来源期刊

Pediatric Cardiac Surgery Annual Medicine-Surgery

CiteScore

3.80

自引率

0.00%

发文量

期刊介绍： The Pediatric Cardiac Surgery Annual is a companion to Seminars in Thoracic and Cardiovascular Surgery . Together with the Seminars, the Annual provides complete coverage of the specialty by focusing on important developments in pediatric cardiac surgery. Each annual volume has an expert guest editor who invites prominent surgeons to review the areas of greatest change in pediatric cardiac surgery during the year. Topics include 1) Complete Atrioventricular Canal; 2) New Concepts of Cardiac Anatomy and Function -- The Helical Heart; 3) Valve Reconstruction (Replacement) in Congenital Heart Disease; 4) Evolving Developments in Congenital Heart Surgery.