CAJ | 학술논문

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,l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.
목적 가족성심기치밀화불전(LVNC)림상겁위한견,본문보도일반발다충심률실상화다발성졸사가계,이탐토기림상특정급유전규률.방법 대일반발다충심률실상화다발성졸사가계진행계통적가계조사,대졸사자진행상세적병사분석,대조사시존활자33인균행채색초성심동도、심전도화동태심전도검사,2례엄중환자행핵자공진성상,병회제가계도.결과 해가계5대40인중,졸사7례(17.5％,7/40),기중1례계학진병사우가계조사기간.가계33인삼여조사,10례(30.3％,10/33)학진LVNC.기중3례합병현저성심장확대,2례심공능불전,l례합병병태두방결종합정치입영구성심장기박기,1례합병실상성심동과속행사빈소융술,3례합병완전성좌속지전도조체.초보적가계분석발현졸사화LVNC부발생우녀성환자적후대,차제3례유년후대외궤호전부환병(83.3％,15/18),이남성환자후대무일발병(0/8).녀성환자발병년령교경,병정명현교남성환자엄중.7례졸사환자6례위녀성.심장확대、심공능불전、진발성실상성심동과속、엄중심률실상균발생우녀성환자.결론 본가계위고발병、고치사성、반복잡심률실상적유전성심기치밀화불전가계,초보가계분석표명해가계정모계유전경향,추측기발병궤제가능여선립체기인돌변유관.
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 echocardiography (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 mcmbers( 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 inheritauce 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.