Cuevas Javier, Ptaszynski Raúl, Cigarrán Helena, Calvo Juan, Martín María
Cardiology Department, Hospital Universitario Central de Asturias, Asturias, Spain.
Radiology Department, Hospital Universitario Central de Asturias, Asturias, Spain.
Kardiol Pol. 2022;80(5):529-539. doi: 10.33963/KP.a2022.0089. Epub 2022 Apr 2.
From its initial description to the present day, left ventricular noncompaction cardiomyopathy has been the subject of numerous studies and publications. In question as a real cardiomyopathy, left ventricular noncompaction can appear in isolation or in association with other cardiac malformations, genetic syndromes, and neuromuscular disorders. As a genetically heterogeneous disorder, it can be sporadic or familial, with an autosomal dominant pattern with variable penetrance most frequently observed. Different diagnostic criteria have been described through the years, first by using echocardiogram and later on by cardiac magnetic resonance. The lack of universally accepted diagnostic criteria has led to the condition being over-diagnosed in the general population. Differential diagnosis between real cardiomyopathy, epiphenomenon (phenocopy in the setting of loading conditions or even other cardiomyopathies), and physiological hypertrabeculation, like in the athlete's heart must be considered. Clinically it can present as heart failure, ventricular arrhythmias, and even sudden death, but it can also be asymptomatic during familial screening. The main prognosis factors are left ventricular dilatation, dysfunction, and fibrosis. There is no specific treatment. Familial screening is recommended and special recommendations in the case of athletes must be taken into account. In the present article, we review the myth and reality concerning main and more recent aspects of left ventricular noncompaction.
从最初被描述至今，左心室心肌致密化不全一直是众多研究和出版物的主题。作为一种真正的心肌病，左心室心肌致密化不全可单独出现，或与其他心脏畸形、遗传综合征及神经肌肉疾病相关联。作为一种遗传异质性疾病，它可以是散发性的或家族性的，最常观察到的是具有可变外显率的常染色体显性模式。多年来已经描述了不同的诊断标准，最初是使用超声心动图，后来是心脏磁共振成像。缺乏普遍接受的诊断标准导致该病症在普通人群中被过度诊断。必须考虑真正的心肌病、现象（在负荷情况下的表型模拟甚至其他心肌病）与生理性肌小梁增粗（如运动员心脏）之间的鉴别诊断。临床上它可表现为心力衰竭、室性心律失常，甚至猝死，但在家族筛查期间也可能无症状。主要的预后因素是左心室扩张、功能障碍和纤维化。目前尚无特异性治疗方法。建议进行家族筛查，并且必须考虑针对运动员的特殊建议。在本文中，我们回顾了有关左心室心肌致密化不全主要及最新方面的误区与事实。
