背景:先天性左心室室壁瘤和异常心脏小梁的共存并伴有基因突变以前没有报道。这里,我们报道1例LIM结构域结合3基因突变患者并发先天性左心室动脉瘤和显著的左心室小梁形成.
方法:一名30岁的亚裔男子在心电图健康检查中出现阵发性窦性心动过速和Q波。在体格检查和血清学测试中没有具体发现。冠状动脉计算机断层扫描血管造影检查显示冠状动脉正常,无冠状动脉狭窄。左心室对比超声心动图和心脏磁共振均显示出罕见的特征,即根尖动脉瘤状的外袋状结构与左心室和突出的左心室小梁网的广泛连接。高通量测序检查显示LDB3基因中存在新的突变(c。C793>T;p.Arg265Cys)。
结论:我们的发现表明,两种心脏病的表型表达,先天性左心室动脉瘤和突出的左心室小梁,虽然罕见,可与LDB3基因突变同时发生。先天性左心室动脉瘤和突出的左心室小梁可能具有相同的遗传背景。
BACKGROUND: The coexistence of congenital left ventricular aneurysm and abnormal cardiac trabeculation with gene mutation has not been reported previously. Here, we report a
case of coexisting congenital left ventricular aneurysm and prominent left ventricular trabeculation in a patient with LIM domain binding 3 gene mutation.
METHODS: A 30-year-old Asian man showed paroxysmal sinus tachycardia and Q waves in an electrocardiogram health check. There were no specific findings in physical examinations and serological tests. A coronary-computed tomography angiography check showed normal coronary artery and no coronary stenosis. Both left ventricle contrast echocardiography and cardiac magnetic resonance showed rare patterns of a combination of an apical aneurysm-like out-pouching structure with a wide connection to the left ventricle and prominent left ventricular trabecular meshwork. High-throughput sequencing examinations showed a novel mutation in the
LDB3 gene (c.C793>T; p.Arg265Cys).
CONCLUSIONS: Our finding indicates that the phenotypic expression of two heart conditions, congenital left ventricular aneurysm and prominent left ventricular trabeculation, although rare, can occur simultaneously with
LDB3 gene mutation. Congenital left ventricular aneurysm and prominent left ventricular trabeculation may share the same genetic background.