家族性心房静止一年随访分析

A atrial standstill family one year followup

目的对1年前发现的罕见心房静止家系进行随访并进一步报道，以期加深对该疾病的认识。方法随访该家系中患者及患者子女的心电图、超声心动图、临床症状探讨其发病特点；Solexa外显子测序法寻找其可能致病基因。结果此次随访主要有两个发现：第一，该家系中患者逐渐发展成完全心房静止，在疾病进展过程中有恢复正常窦性心律的情况；第二，家系中出现新的患病成员，发病年龄比文献报道年轻，首先表现为心房机械活动消失而心房电活动正常的电机械分离。外显子测序发现存在43个该疾病的候选基因。结论在心房静止诊断中，超声心动图心房机械活动消失早于心电图异常；存在43个基因可能与该疾病相关，尚需进一步验证。

We reported an infrequent atrial standstill family which had been followedup of one year. Methods Electrocardiogram and echocardiogram were used to evaluate heart structure and function in all patients and their offsprings. Exon sequencing was performed for searching for the possible virulence gene. Results For most patients, atrial standstill was a gradually developing process with an aggravating heart function; however, in the course of disease progression, electrocardiogram might restore to normal sinus rhythm. And a new member diagnosed with atrial standstill had younger age than those reported in literature and the atrial mechanical activity disappearance with a normal atrial electrical activity. Furthermore, sexon sequencing showed that there were 43 artial standstill related genes. Conclusions Echoeardiography may be superior to electrocardiogram in the diagnosis of atrial standstill. There are 43 genes associated with this disease, which needs further verification.