Baldi Massimo, Sgalambro Aurelio, Nistri Stefano, Girolami Francesca, Baldini Katia, Fantini Silvia, Grifoni Camilla, Rega Luigi, Olivottol Iacopo, Cecchi Franco
Centro di Riferimento Regionale per le Cardiomiopatie di Firenze, Dipartimento Area Critica, Università degli Studi, Azienda Ospedaliero-Universitaria Careggi, Firenze.
G Ital Cardiol (Rome). 2010 May;11(5):377-85.
Isolated left ventricular non-compaction (LVNC) is a rare genetic form of cardiomyopathy (CM) characterized by prominent left ventricular wall trabeculation and intertrabecular recesses communicating with the ventricular cavity. Clinical signs are variable, ranging from lack of symptoms to severe manifestations including heart failure, sustained ventricular arrhythmias, cardioembolism and sudden death. The diagnosis of LVNC is frequently missed, due to limited awareness in the medical community. Contemporary diagnostic sensitivity has been enhanced by the introduction of specific morphologic criteria by high resolution echocardiography and cardiac magnetic resonance. As a consequence, LVNC has been diagnosed more frequently in association with other disorders such as congenital heart disease or genetic CM. The clinical relevance of regional non-compaction in the context of other cardiac diseases is still uncertain. Recent evidence points to an overlapping genetic background encompassing LVNC, hypertrophic and dilated CM, suggesting a continuum of disease associated with sarcomere protein gene mutations. This concept may prove relevant to the understanding of common pathogenetic mechanisms of CM and offer novel research opportunities.
孤立性左心室心肌致密化不全（LVNC）是一种罕见的遗传性心肌病（CM），其特征为左心室壁小梁显著增多以及小梁间隐窝与心室腔相通。临床症状多样，从无症状到严重表现，包括心力衰竭、持续性室性心律失常、心源性栓塞和猝死。由于医学界认识有限，LVNC的诊断常常被漏诊。高分辨率超声心动图和心脏磁共振引入的特定形态学标准提高了当代诊断的敏感性。因此，LVNC在与其他疾病（如先天性心脏病或遗传性CM）相关时被更频繁地诊断出来。在其他心脏疾病背景下，局部心肌致密化不全的临床相关性仍不确定。最近的证据表明，LVNC、肥厚型和扩张型CM存在重叠的遗传背景，提示与肌节蛋白基因突变相关的疾病连续性。这一概念可能对理解CM的常见发病机制具有重要意义，并提供新的研究机会。
