心脏 MRI 在肌联蛋白变异相关扩张型心肌病中的成像作用。

Cardiac MRI as an Imaging Tool in Titin Variant-Related Dilated Cardiomyopathy.

机构信息

Division of Cardiology, Michigan State University, Sparrow Hospital, Lansing, MI, USA.

Division of Cardiology, Johns Hopkins University, Baltimore, MD, USA.

出版信息

Cardiovasc Revasc Med. 2023 Jul;52:86-93. doi: 10.1016/j.carrev.2023.03.001. Epub 2023 Mar 7.

DOI:10.1016/j.carrev.2023.03.001

PMID:36934006

Abstract

Dilated Cardiomyopathy is a common myocardial disease characterized by dilation and loss of function of one or both ventricles. A variety of etiologies have been implicated including genetic variation. Advancement in genetic sequencing, and diagnostic imaging allows for detection of genetic mutations in sarcomere protein titin (TTN) and high resolution assessment of cardiac function. This review article discusses the role of cardiac MRI in diagnosing dilated cardiomyopathy in patients with TTN variant related cardiomyopathy.

摘要

扩张型心肌病是一种常见的心肌疾病，其特征为一个或两个心室扩张和功能丧失。多种病因与之相关，包括基因变异。遗传测序和诊断成像技术的进步使得肌节蛋白titin（TTN）的基因突变检测和心脏功能的高分辨率评估成为可能。本文讨论了心脏 MRI 在诊断 TTN 变异相关心肌病患者扩张型心肌病中的作用。