心肌病的多学科方法:从遗传学到高级影像学。

IF 5.4 3区 材料科学 Q2 CHEMISTRY, PHYSICAL ACS Applied Energy Materials Pub Date : 2024-03-01 Epub Date: 2023-12-02 DOI:10.1007/s10741-023-10373-8
Francesco Santoro, Enrica Vitale, Ilaria Ragnatela, Rosa Cetera, Alessandra Leopzzi, Adriana Mallardi, Annalisa Matera, Marco Mele, Michele Correale, Natale Daniele Brunetti
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引用次数: 0

摘要

心肌病是一种以心肌机械和电功能障碍为特征的心肌疾病,可导致心力衰竭和危及生命的心律失常。当然,准确的记忆,细致的身体检查和心电图是提高诊断怀疑的基础。然而,心血管成像技术对于诊断特定的心肌病,分层与疾病相关的风险,甚至跟踪治疗的反应是必不可少的。超声心动图通常是患者接受的第一个检查,因为它的无创性、广泛可用性和成本效益。心脏磁共振成像允许整合和实现与超声所获得的信息。此外,多年来对心肌病的遗传基础进行了研究,被认为具有潜在致病性的基因突变列表有望进一步增长。本综述的目的是显示超声心动图、心脏磁共振成像和几种心肌病的遗传特征:扩张性心肌病(DMC)、肥厚性心肌病(HCM)、心律失常性心肌病(ACM)、左室非压实性心肌病(LVNC)、心肌炎和takotsubo心肌病。
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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Multidisciplinary approach in cardiomyopathies: From genetics to advanced imaging.

Cardiomyopathies are myocardial diseases characterized by mechanical and electrical dysfunction of the heart muscle which could lead to heart failure and life-threatening arrhythmias. Certainly, an accurate anamnesis, a meticulous physical examination, and an ECG are cornerstones in raising the diagnostic suspicion. However, cardiovascular imaging techniques are indispensable to diagnose a specific cardiomyopathy, to stratify the risk related to the disease and even to track the response to the therapy. Echocardiography is often the first exam that the patient undergoes, because of its non-invasiveness, wide availability, and cost-effectiveness. Cardiac magnetic resonance imaging allows to integrate and implement the information obtained with the echography. Furthermore, cardiomyopathies' genetic basis has been investigated over the years and the list of genetic mutations deemed potentially pathogenic is expected to grow further. The aim of this review is to show echocardiographic, cardiac magnetic resonance imaging, and genetic features of several cardiomyopathies: dilated cardiomyopathy (DMC), hypertrophic cardiomyopathy (HCM), arrhythmogenic cardiomyopathy (ACM), left ventricular noncompaction cardiomyopathy (LVNC), myocarditis, and takotsubo cardiomyopathy.

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来源期刊
ACS Applied Energy Materials
ACS Applied Energy Materials Materials Science-Materials Chemistry
CiteScore
10.30
自引率
6.20%
发文量
1368
期刊介绍: ACS Applied Energy Materials is an interdisciplinary journal publishing original research covering all aspects of materials, engineering, chemistry, physics and biology relevant to energy conversion and storage. The journal is devoted to reports of new and original experimental and theoretical research of an applied nature that integrate knowledge in the areas of materials, engineering, physics, bioscience, and chemistry into important energy applications.
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