Lorca Rebeca, Martín María, Pascual Isaac, Astudillo Aurora, Díaz Molina Beatriz, Cigarrán Helena, Cuesta-Llavona Elías, Avanzas Pablo, Rodríguez Reguero José Julían, Coto Eliecer, Morís César, Gómez Juan
Unidad de Referencia de Cardiopatías Familiares-HUCA, Área del Corazón y Departamento de Genética Molecular, Hospital Universitario Central Asturias, 33014 Oviedo, Spain.
Instituto de Investigación Sanitaria del Principado de Asturias, ISPA, 33014 Oviedo, Spain.
J Clin Med. 2020 Aug 5;9(8):2524. doi: 10.3390/jcm9082524.
Left ventricle non-compaction cardiomyopathy (LVNC) has gained great interest in recent years, being one of the most controversial cardiomyopathies. There are several open debates, not only about its genetic heterogeneity, or about the possibility to be an acquired cardiomyopathy, but also about its possible overdiagnosis based on imaging techniques. In order to better understand this entity, we identified 38 LVNC patients diagnosed by cardiac MRI (CMRI) or anatomopathological study that could underwent NGS-sequencing and clinical study. Anatomopathological exam was performed in eight available LVNC hearts. The genetic yield was 34.2%. Patients with negative genetic testing had better left ventricular ejection fraction (LVEF) or it showed a tendency to improve in follow-up, and a possible trigger factor for LVNC was identified in 1/3 of them. Nonetheless, cerebrovascular accidents occurred in similar proportions in both groups. We conclude that in LVNC there seem to be different ways to achieve the same final phenotype. Genetic testing has a good genetic yield and provides valuable information. LVNC without an underlying genetic cause may have a better prognosis in terms of LVEF evolution. However, anticoagulation to prevent cerebrovascular accident (CVA) should be carefully evaluated in all patients. Larger series with pathologic examination are needed to help better understand this entity.
左心室致密化不全心肌病（LVNC）近年来备受关注，是最具争议的心肌病之一。目前存在诸多尚未解决的争论，不仅涉及到其遗传异质性、是否可能为获得性心肌病，还包括基于成像技术的过度诊断可能性。为了更好地了解这一疾病，我们纳入了38例经心脏磁共振成像（CMRI）或解剖病理学检查确诊的LVNC患者，这些患者均接受了二代测序（NGS）及临床研究。对8例可获取的LVNC心脏进行了解剖病理学检查。基因检测阳性率为34.2%。基因检测阴性的患者左心室射血分数（LVEF）较好，或在随访中呈改善趋势，且三分之一的患者中发现了可能导致LVNC的触发因素。尽管如此，两组患者发生脑血管意外的比例相似。我们得出结论，在LVNC中似乎存在不同途径导致相同的最终表型。基因检测具有较高的阳性率并能提供有价值的信息。无潜在遗传病因的LVNC在LVEF演变方面可能预后较好。然而，对于所有患者，均应谨慎评估预防脑血管意外（CVA）的抗凝治疗。需要更多包含病理检查的大样本研究来帮助更好地了解这一疾病。
