PDF(Pubmed)
Abstract：
Left ventricular noncompaction (LVNC) is a specific type of cardiomyopathy characterized by coarse trabeculae and interspersed trabecular crypts within the ventricles. Clinical presentation varies widely and may be nonsignificant or may present with progressive heart failure, malignant arrhythmias, and multiorgan embolism. The mode of inheritance is highly heterogeneous but is most commonly autosomal dominant. The TTN gene encodes titin, which is not only an elastic component of muscle contraction but also mediates multiple signalling pathways in striated muscle cells. In recent years, mutations in the TTN gene have been found to be associated with LVNC, but the exact pathogenesis is still not fully clarified.
In this article, we report a case of an adult LVNC patient with a TTN gene variant, c.87857G > A (p. Trp29286*), that has not been reported previously. This 43-year-old adult male was hospitalized repeatedly for heart failure. Echocardiography showed reduced myocardial contractility, dilated left ventricle with many prominent trabeculae, and a loose texture of the left ventricular layer of myocardium with crypt-like changes. During the out-of-hospital follow-up, the patient had no significant signs or symptoms of discomfort.
This case report enriches the mutational spectrum of the TTN gene in LVNC and provides a basis for genetic counselling and treatment of this patient. Clinicians should improve their understanding of LVNC, focusing on exploring its pathogenesis and genetic characteristics to provide new directions for future diagnosis and treatment.
In this article, we report a case of an adult LVNC patient with a TTN gene variant, c.87857G > A (p. Trp29286*), that has not been reported previously. This 43-year-old adult male was hospitalized repeatedly for heart failure. Echocardiography showed reduced myocardial contractility, dilated left ventricle with many prominent trabeculae, and a loose texture of the left ventricular layer of myocardium with crypt-like changes. During the out-of-hospital follow-up, the patient had no significant signs or symptoms of discomfort.
This case report enriches the mutational spectrum of the TTN gene in LVNC and provides a basis for genetic counselling and treatment of this patient. Clinicians should improve their understanding of LVNC, focusing on exploring its pathogenesis and genetic characteristics to provide new directions for future diagnosis and treatment.
摘要：
背景：左心室致密化不全（LVNC）是一种特殊类型的心肌病，其特征是心室内小梁粗糙和散布的小梁隐窝。临床表现差异很大，可能无意义或可能出现进行性心力衰竭，恶性心律失常,多器官栓塞.遗传方式是高度异质的，但最常见的是常染色体显性遗传。TTN基因编码肌动蛋白，它不仅是肌肉收缩的弹性成分，而且还介导横纹肌细胞中的多种信号通路。近年来,已发现TTN基因的突变与LVNC有关，但确切的发病机制仍未完全阐明。
方法：在本文中，我们报道了一例患有TTN基因变异的成年LVNC患者，c.87857G>A（p。Trp29286*),以前没有报道过。这位43岁的成年男性因心力衰竭多次住院。超声心动图显示心肌收缩力降低，左心室扩张，有许多突出的小梁，心肌左心室层结构疏松，有隐窝样变化。在院外随访期间，患者没有明显的不适症状或体征。
结论：本病例报告丰富了LVNC中TTN基因的突变谱，为该患者的遗传咨询和治疗提供了依据。临床医生应该提高对LVNC的认识，重点探讨其发病机制和遗传特点,为今后的诊断和治疗提供新的方向。
方法：在本文中，我们报道了一例患有TTN基因变异的成年LVNC患者，c.87857G>A（p。Trp29286*),以前没有报道过。这位43岁的成年男性因心力衰竭多次住院。超声心动图显示心肌收缩力降低，左心室扩张，有许多突出的小梁，心肌左心室层结构疏松，有隐窝样变化。在院外随访期间，患者没有明显的不适症状或体征。
结论：本病例报告丰富了LVNC中TTN基因的突变谱，为该患者的遗传咨询和治疗提供了依据。临床医生应该提高对LVNC的认识，重点探讨其发病机制和遗传特点,为今后的诊断和治疗提供新的方向。
