成人常染色体显性遗传皮肤松弛症1型合并心脏多瓣膜脱垂1例并文献回顾  

Unveiling heart multivalvular prolapse in adult autosomal dominant cutis laxa type 1:a case and literature review

作　　者：朱静[1] 邵春来[1] 徐龙江[2] 浦玉伟 Zhu Jing;Shao Chunlai;Xu Longjiang;Pu Yuwei(Department of Cardiology,the Second Affiliated Hospital of Soochow University,Suzhou 215004,China;Department of Pathology,the Second Affiliated Hospital of Soochow University,Suzhou 215004,China;Department of General Surgery,the Second Affiliated Hospital of Soochow University,Suzhou 215004,China)

机构地区：[1]苏州大学附属第二医院心血管内科,江苏苏州215004 [2]苏州大学附属第二医院病理科,江苏苏州215004 [3]苏州大学附属第二医院普外科,江苏苏州215004

出　　处：《中华心血管病杂志（网络版）》2024年第1期98-104,共7页Chinese Video Journal of Cardiology

摘　　要：目的报道具有皮肤松弛及特殊面容的心脏多瓣膜脱垂及反流表现的心力衰竭患者1例,回顾既往文献报道,探讨常染色体显性遗传皮肤松弛症(autosomal dominant cutis laxa,ADCL)1型合并心脏器质性病变的临床表现、发病机制及处理原则。病例介绍患者男性,31岁,4个月前开始出现活动后胸闷气急症状,8 d前门诊就医发现心脏杂音。心电图显示窦性心动过速,完全性右束支传导阻滞。心脏超声显示二尖瓣前叶脱垂伴重度关闭不全,三尖瓣脱垂伴中度关闭不全,主动脉瓣脱垂伴轻度关闭不全,左心房内径增大,轻度肺动脉高压,房间隔膨胀瘤、室间隔膜部瘤,诊断为心脏瓣膜病,心功能不全。住院期间并发感染性心内膜炎,患者在有效抗感染治疗的基础上经外科瓣膜置换术治疗后心脏功能改善,由于患者有皮肤松弛及特殊面容,最终病因由皮肤活检结合基因检测明确为ADCL 1型。文献检索及分析检索PubMed、中国知网和万方数据库,检索年限截至2023年12月30日,共检出符合标准的文献57篇,经进一步筛选标题及摘要获得关于ADCL 1型合并心脏瓣膜疾病的病例报告及回顾性研究共6篇。文献报道的ADCL1型诊断病例不足50例,有来自24个家族的47位个体已被鉴定为弹性蛋白(elastin,ELN)的致病性变异,年龄1~84岁,几乎所有患者呈现出明显的皮肤松弛及显著的面部老化特征,常伴有声音嘶哑、腹股沟疝、主动脉根部扩张及肺气肿;少见临床症状包括发育迟缓、智力障碍、关节过度松弛、斜视和心脏瓣膜功能异常、动脉弯曲综合征等。ADCL1型多数预后良好,引起严重瓣膜病变并行主动脉瓣置换术患者1例。目前,尚无根治ELN基因相关导致的皮肤松弛,整形手术效果差,建议支持性治疗,以提高生活质量,减少严重心肺并发症。结论ADCL1型患者罕见,病变主要累及皮肤,以典型的面部改变及全身性的皮肤松弛形成�Objective This study reports a rare case of heart failure in a patient presenting with characteristic facial features and skin laxity,alongside multivalvular prolapse and regurgitation.Through genetic testing and skin biopsy,the underlying genetic cause was elucidated,complemented by a comprehensive review of the clinical manifestations,pathogenesis,and management principles of autosomal dominant cutis laxa type 1(ADCL1)associated with cardiac organic lesions.Clinical Feature A 31-year-old male presented with chest tightness and dyspnea upon exertion for four months,with incidental detection of a heart murmur eight days prior to admission.Diagnostic investigations including electrocardiography(ECG)and transesophageal echocardiogram(TEE)revealed sinus tachycardia,complete right bundle branch block(CRBBB),mitral,tricuspid,and aortic valve prolapse with varying degrees of regurgitation,increased left atrial diameter,mild pulmonary hypertension,and atrial and interventricular septal aneurysms.Concurrent infective endocarditis necessitated surgical valve replacement,leading to improved cardiac function.Genetic testing and skin biopsy confirmed the diagnosis of ADCL 1.Data Review A comprehensive literature search identified 57 relevant articles from databases including PubMed,CNKI,and WANFANG,with six reports specifically focusing on ADCL1 with associated cardiac valve disease.Less than 50 cases of ADCL1 have been reported,predominantly linked to pathogenic mutations in the ELN gene.Clinical manifestations include skin laxity,facial aging,hoarseness,and various cardiac anomalies.Management primarily involves supportive care to alleviate symptoms and reduce complications.Conclusions ADCL1 is a rare condition primarily characterized by skin laxity and facial changes,often accompanied by cardiac valve abnormalities.Timely intervention,including cardiac surgery when necessary,is crucial in managing patients with associated cardiac complications.Despite the rarity of ADCL1,a thorough understanding of its clinical features a

关 键 词：心脏瓣膜脱垂 皮肤松弛症 染色体障碍 基因 显性 

分 类 号：R758.5[医药卫生—皮肤病学与性病学] R542.5[医药卫生—临床医学]