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左心室心肌致密化不全——挑战与争议

Left ventricular non-compaction -challenges and controversies.

作者信息

Floria Mariana, Tinica Grigore, Grecu Mihaela

机构信息

Cardiovascular Disease Institute, Iasi, Romania ; "Grigore T. Popa" University of Medicine and Pharmacy, Iasi, Romania.

Cardiovascular Disease Institute, Iasi, Romania.

出版信息

Maedica (Bucur). 2014 Sep;9(3):282-8.

Abstract

Cardiomyopathies classification is based on morphological and functional phenotypes and subcategories of familial/genetic and non-familial/non-genetic disease. The non-compaction cardiomyopathy is a rare disorder which is considered to be an unclassified cardiomyopathy according to the ESC Working Group on Myocardial and Pericardial Diseases and the World Health Organization or a primary genetically-determined cardiomyopathy according to the American Heart Association. The diagnosis of non-compaction is challenging and its nosology is debated since this morphological trait can be shared by different cardiomyopathies and non-cardiomyopathy conditions. Myocardial structure has a spectrum from normal variants to the pathological phenotype of non-compaction cardiomyopathy, which reflects the embryonic structure of the human heart due to an arrest in the compaction process during the first trimester. However, when a definite diagnosis of non-compaction is made, the diagnostic process should orient towards a genetic disease with a relatively high probability of sarcomere mutations. Non-compaction cardiomyopathy is a diagnostically challenging entity. Nowadays there are some controversies associated with this cardiomyopathy, that it worth to be discussed.

摘要

心肌病的分类基于形态学和功能表型以及家族性/遗传性和非家族性/非遗传性疾病的亚类。致密化不全心肌病是一种罕见的疾病,根据欧洲心脏病学会心肌和心包疾病工作组以及世界卫生组织的分类,它被认为是一种未分类的心肌病;而根据美国心脏协会的分类,它被认为是一种原发性基因决定的心肌病。致密化不全的诊断具有挑战性,其疾病分类存在争议,因为这种形态学特征可能在不同的心肌病和非心肌病情况下都有出现。心肌结构存在一个从正常变异到致密化不全心肌病病理表型的谱系,这反映了人类心脏的胚胎结构,是由于妊娠早期致密化过程受阻所致。然而,当做出致密化不全的明确诊断时,诊断过程应倾向于一种具有相对较高肌节突变概率的遗传疾病。致密化不全心肌病是一个诊断具有挑战性的实体。如今,关于这种心肌病存在一些争议,值得进行讨论。

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