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.
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。