高致死性心肌致密化不全一家系报道  

Non-compaction cardiomyopathy in a 5-generation Chinese family

作　　者：丁仲如 黄国明 王洪如 涂晓文 刘传垠 

机构地区：[1]解放军第九十四医院心内科,南昌330002 [2]江西省吉安中心医院心内科

出　　处：《中华心血管病杂志》2012年第4期323-326,共4页Chinese Journal of Cardiology

摘　　要：目的家族性心肌致密化不全（LVNC）临床极为罕见，本文报道一伴发多种心律失常和多发性猝死家系，以探讨其临床特征及遗传规律。方法对一伴发多种心律失常和多发性猝死家系进行系统的家系调查，对猝死者进行详细的病史分析，对调查时存活者33人均行彩色超声心动图、心电图和动态心电图检查，2例严重患者行核磁共振成像，并绘制家系图。结果该家系5代40人中，猝死7例（17．5％，7／40），其中1例系确诊并死于家系调查期间。家系33人参与调查，10例（30．3％，10／33）确诊LVNC。其中3例合并显著性心脏扩大，2例心功能不全，1例合并病态窦房结综合征置入永久性心脏起搏器，1例合并室上性心动过速行射频消融术，3例合并完全性左束支传导阻滞。初步的家系分析发现猝死和LVNC仅发生于女性患者的后代，且除3例幼年后代外几乎全部患病（83．3％，15／18），而男性患者后代无一发病（0／8）。女性患者发病年龄较轻，病情明显较男性患者严重。7例猝死患者6例为女性。心脏扩大、心功能不全、阵发性室上性心动过速、严重心律失常均发生于女性患者。结论本家系为高发病、高致死性、伴复杂心律失常的遗传性心肌致密化不全家系，初步家系分析表明该家系呈母系遗传倾向，推测其发病机制可能与线粒体基因突变有关。Objective Familial left ventricular noncompaction（LVNC） is quite rare. We screened for the presence of LVNC and related clinical characteristics in a 5-generation Chinese family. Methods Comprehensive medical history was obtained from 40 members in a 5-generation Chinese family. Systemic clinical investigations including eehocardiography （UCG）, routine and ambulatory electrocardiogram （ECG） ,X-rays were performed in 33 family members. Cardiovascular magnetic resonance image （MRI） was carried out in 2 family members. Results Sudden cardiac death （ including 1 occurred while following-up） was reported in 7 family members（ 17. 5% ,7/40）. LVNC was diagnosed in 10 out of the 33 family members （30. 3% ）and heart enlargement was evidenced in 3, heart failure in 2, complete left branch conductive block in 3, serious sick sinus syndrome （SSS） treated with permanent pacemaker implantation in 1 and paroxysmal supraventricular tachycardia treated with radiofrequency ablation procedure in 1 out of these 10 LVNC patients. Primary pedigree analysis revealed that offspring from female patients were at the highest risk to be affected by LVNC （15/18, 83.3% ） while LVNC was absent in offspring of male LVNC patients （0/8）. Moreover, clinical heart failure symptoms and arrhythmias were more severe in female LVNC patients than in male LVNC patients. Conclusion Primary familial investigation reveals the matrilineal inheritance of familial LVNC in this 5-generation Chinese family, further investigations are warranted to explore the potential mutations in the mitochondrial genome responsible for LVNC in this family.

关 键 词：心肌疾病 突变 母系遗传 

分 类 号：R541.1[医药卫生—心血管疾病]