全面性癫(痫)伴热性惊厥附加症2家系GABRG2基因突变分析

目的 收集2个全面性癫(痫)伴热性惊厥附加症( GEFS+)家系,分析中国人GEFS+的遗传特点.并对2个GEFS+家系进行GABRG2基因突变检测,以期发现新的突变位点.方法 对参与本研究的2个GEFS+家系成员在知情自愿的情况下参与调查、体检和血样本采集.另取20名健康体检儿童作为对照.对先证者及患者和健康对照组GABRG2基因全部9个外显子进行测序.将患者基因组各外显子片段测序结果与GenBank中的正常序列和健康对照组外显子片段测序结果通过互联网(BLAST)进行比对分析.结果 GEFS+2个家系成员共40份外周血中均未发现K289M、R43Q、Q351X、IVS6+ 2T→G、R139G、W390X等6种已知突变位点,仅在外显子5第40碱基处发现1个已知C/T多态性.结论 GABRG2基因很可能不是我国汉族人群GEFS+家系主要的致病基因,其与国外报道的GEFS+的主要致病基因存在种族及地域差异.     

全面性癫伴热性惊厥附加症2家系GABRG2基因突变分析

目的收集2个全面性癫伴热性惊厥附加症(GEFS+)家系,分析中国人GEFS+的遗传特点。并对2个GEFS+家系进行GABRG2基因突变检测,以期发现新的突变位点。方法对参与本研究的2个GEFS+家系成员在知情自愿的情况下参与调查、体检和血样本采集。另取20名健康体检儿童作为对照。对先证者及患者和健康对照组GABRG2基因全部9个外显子进行测序。将患者基因组各外显子片段测序结果与GenBank中的正常序列和健康对照组外显子片段测序结果通过互联网(BLAST)进行比对分析。结果 GEFS+2个家系成员共40份外周血中均未发现K289M、R43Q、Q351X、IVS6+2T→G、R139G、W390X等6种已知突变位点,仅在外显子5第40碱基处发现1个已知C/T多态性。结论 GABRG2基因很可能不是我国汉族人群GEFS+家系主要的致病基因,其与国外报道的GEFS+的主要致病基因存在种族及地域差异。     

双特异性蛋白磷酸酶6基因外显子突变与先天性脊柱侧凸关系的探讨

目的 探讨中国汉族人群中双特异性蛋白磷酸酶6 (dual specificity phosphatase 6,DUSP6)基因外显子突变与先天性脊柱侧凸(congenital scoliosis,CS)发病的关系.方法 病例组为2009年6月至2011年11月行手术治疗且有完整影像学资料的散发非综合征型CS汉族患者103例(其中男41例,女62例,平均年龄12.8±4.1岁),对照组为100例年龄匹配的正常汉族青少年(其中男39例,女61例,平均年龄13.2±3.4岁).从外周血中提取基因组DNA,设计引物扩增DUSP6基因外显子序列,PCR扩增产物直接测序,检测病例组和对照组外显子突变情况.结果 病例组和对照组DUSP6基因的2个外显子序列(Exon 2和Exon 3)均与基因库序列一致;Exon 1第820位点在两组中均存在G/T多态性,但基因多态性分布频率无显著性差异(P=0.394).结论 中国汉族CS患儿的DUSP6基因外显子未发现突变,在中国汉族人群中DUSP6基因外显子突变可能与CS的发病无关.     

PKHD1突变致儿童门脉高压4例病例报告

目的 通过二代测序探讨儿童不明原因门脉高压的遗传病因,以提高临床认识。 方法 2012至2016年3月在复旦大学附属金山医院收治的4例不明原因的儿童门脉高压病例,均进行全外显子测序或肝病基因Panel的高通量测序,对临床表现进行回顾性分析。 结果 4例患儿中,男1例,女3例,发病年龄3.3~6.4岁。主要临床表现为上消化道出血3例,脾肿大4例,肝肿大2例;肝内胆管扩张1例;转氨酶轻度升高2例。4例患儿影像学上均有肾脏病变,肝脏合成功能和肾功能均正常。二代基因测序及Sanger验证,4例患儿均在PKHD1基因上发现复合杂合突变,其中无义突变和经典剪切位点突变各1个,缺失突变（移码突变）和错义突变（少见位点）各3个。例1外显子32 上第4 481位碱基A缺损造成移码突变和外显子51的前1位内含子区碱基G突变为A影响剪切位点;例2外显子24上第2 507位碱基T突变为C,导致第836位上的缬氨酸变为丙氨酸,外显子58上第9 568位碱基C突变为T,导致编码第3 190位谷氨酰胺的密码子变成终止密码子。例3外显子12上第847位碱基T突变为C,导致第283位上的苯丙氨酸转变为亮氨酸,外显子58上第9 455位密码子A缺失导致移码突变。例4外显子61上第10 315位碱基G突变为T,导致第3 429位上的天冬氨酸转变为酪氨酸,外显子27上第3 028至3 039位碱基缺失,并插入AGGT导致移码突变。最终4例患儿均确诊为常染色体隐性遗传性多囊肾病。 结论 PKHD1基因突变引起的常染色体隐性遗传性多囊肾病是我国儿童门脉高压的重要病因,二代基因测序是确诊的有效手段。     

儿童激素耐药型肾病综合征与CD2相关蛋白基因启动子突变的相关性

目的 检测CD2相关蛋白(CD2AP)基因启动子在儿童激素耐药型肾病综合征(SRNS)中的突变情况,探讨其在肾病综合征发病机制中的作用.方法 采集65例SRNS患儿(SRNS组)和110例健康对照儿童(健康对照组)外周血并抽提DNA,采用PCR和DNA直接测序法对CD2AP基因启动子进行突变筛查.组间等位基因和基因型的分布差异采用X<'2>检验.结果 1.SRNS组检出1例CD2AP基因启动子突变(碱基变化-473C/T),健康对照组未发现该突变;2.SRNS组检出2例CD2AP基因启动子突变(碱基变化-441C/G),但健康对照组也发现3例该突变,可能为新的多态性位点;3.SRNS组17例患儿发现多态性(rs1056343,碱基变化-191A/C),健康对照组发现50例该多态性,2组突变基因型频数存在明显差异.结论 1.中国人群儿奄中有CD2AP基因启动子多态性存在,CD2AP基因启动子-191A/C多态性可能与SRNS患儿的发病风险相关;2.CD2AP基因启动子存在-473C/T和-441C/G突变.     

儿童肾母细胞瘤WT1基因突变四例报道

目的 研究儿童肾母细胞瘤患者WT1基因的突变类型及突变频率.方法应用聚合酶链反应(PCR)扩增出54例儿童肾母细胞瘤患者WT1基因全部10个外显子及其相邻内含子序列,经纯化后进行PCR产物直接测序.结果 4例患者WT1基因分别存在3个杂合无义突变及1个纯合错义突变.例1患者WT1基因7号外显子第1006位碱基A→T杂合突变,造成第336号氨基酸由赖氨酸转变为终止密码子,即K336X.例2患者WT1基因9号外显子第1168位碱基c→T杂合突变,造成第390号氨基酸由精氨酸转变为终止密码子,即R390X.例3患者WT1基因6号外显子第814位碱基G→T杂合突变,造成第272号氨基酸由谷氨酸转变为终止密码子,即E272X.例4患者WT1基因10号外显子第1228位碱基A→G纯合突变,造成第410号氨基酸由丝氨酸转变为甘氨酸,即S410G.结论 散发的中国儿童肾母细胞瘤患者WT1基因外显子突变的发生率与国外报道相近,检测到的4例突变患者中3例为无义突变、1例为错义突变.     

X-连锁肾上腺脑白质营养不良ABCD1基因突变分析

目的对5例X-连锁肾上腺脑白质营养不良（X-ALD）患儿及其中2例的母亲进行ABCD1基因突变分析。方法聚合酶链反应（PCR）扩增5例X-ALD患儿ABCD1基因的10个外显子及其侧翼序列,直接进行测序。将测序结果与正常ABCD1基因序列比对,确定突变位点和突变形式。同时测定30例健康儿童ABCD1基因序列以明确突变位点是否为基因多态性。结果伴ABCD1基因突变3例,1例为外显子6上518位氨基酸的点突变,为Arg518Gly（CGG→GGG）;2例为外显子1上8个碱基缺失（134del8）。同时在外显子7上发现4个位点的基因多态性,分别为Gly551X（GGC→GGT）、Arg554His（CGT→CAT）、Gln567Arg（CAA→CGA）和Val582Ile（GTC→ATC）。2例患儿的母亲均未检测到突变。结论3例X-ALD患儿证实存在ABCD1基因突变,其中外显子1的8个碱基的缺失（134del8）为新发现的突变;新发现中国人外显子7的4个位点基因多态性,分别为Gly551X、Arg554His、Gln567Arg和Val582Ile。     

内蒙古西部地区汉族新生儿呼吸窘迫综合征与SP-B外显子7区域R236C位点的相关性研究

目的通过检测和分析肺表面活性物质蛋白B基因外显子7(exon7)区域上是否存在基因变异,探讨其与内蒙古西部地区汉族新生儿呼吸窘迫综合征(NRDS)发病的关系。方法采用病例对照研究方法,选择祖上三代都居住在内蒙古西部地区的汉族NRDS患儿47例作为病例组,选择同民族和同群体中未发生NRDS的新生儿47例为对照组。通过PCR基因分析技术检测SP-B基因外显子7区域上有无突变,以及SP-B外显子7(R236C)位点的基因型、等位基因分布。结果在内蒙古西部地区汉族新生儿中,SP-B基因外显子7区域无突变发生;SP-B外显子7(R236C)位点基因型均可检出两种基因型(CC、CT),两组中均未检出TT基因型。病例组CC和CT基因型频率分别为72%和28%,C等位基因频率为85%,T等位基因频率为15%。对照组此两种基因型分别为85%和15%,C等位基因频率为93%,T等位基因频率为7%。病例组与对照组此位点基因多态性相比等位基因及基因型频率在两组之间差异无统计学意义(P0.05)。结论内蒙古西部地区汉族NRDS患儿的SP-B基因第7外显子未发现基因突变。未发现SP-B基因外显子7(R236C)位点基因多态性与该地区汉族NRDS的发生有明显相关性。     

发育性髋关节发育不良患儿COL1A1基因启动子区突变筛查

目的 检测发育性髋关节发育不良(developmental dysplasia of the hip,DDH)患儿的COL1A1基因启动子区是否存在突变.方法 对COL1A1基因转录起始点上游1060 bp(-1024～+36 bp)的片段设计4对引物,在109例DDH患儿中分别进行PCR扩增,扩增产物直接测序.有基因变异的患儿,对其父母及100例正常儿的该段启动子也进行PCR扩增、测序,以确定变异位点的性质.结果 在2例DDH患儿的第-106位碱基检测到C→T杂合变异,同时对100例正常人进行测序,未发现相同的变异.经网上基因数据库检索,也未发现该位点有已知多态.证实COL1A1基因转录调控区-106位碱基的C→T杂合变异为DDH核心家系中新发现的突变.结论 在部分DDH患儿中,COL1A1基因启动子区的-106位碱基存在C→T杂合突变,该突变可能与DDH患儿关节囊及圆韧带组织中COL1A1表达降低有关.     

内脏异位综合征患儿中DNAI1和DNAH5基因编码区突变分析

目的筛查中国汉族内脏异位综合征患儿DNAI1和DNAH5基因编码区突变情况。方法临床招募确诊内脏异位综合征患儿及健康体检儿童,提取外周血DNA行全外显子组测序,检测DNAI1及DNAH5基因编码区核苷酸变异;Sanger测序验证外显子测序发现的突变位点;以生物信息学软件Mutationtaster、SIFT、PolyPhen-2分析位点变异对蛋白功能的影响。结果 81例内脏异位综合征患儿及89例健康儿童的外显子测序结果可用于后续分析。在81例内脏异位综合征患儿中发现存在3个DNAI1及3个DNAH5基因的编码区突变位点,4例(4.94%)患儿携带DNAI1基因突变,2例(2.50%)患儿携带DNAH5基因突变;突变位点在89例健康儿童中均未发现。生物信息学分析提示上述突变位点可能破坏蛋白质功能。结论中国汉族内脏异位综合征患儿DNAI1和DNAH5基因突变发生率分别为4.94%和2.50%,DNAI1和DNAH5基因突变可能与中国汉族儿童内脏异位发生相关。     

Rare variant mutations identified in pediatric patients with dilated cardiomyopathy

Dilated cardiomyopathy (DCM) in infants and children can be partially explained by genetic cause but the catalogue of known genes is limited. We reviewed our database of 41 cases diagnosed with DCM before 18 years of age who underwent detailed clinical and genetic evaluation, and summarize here the evidence for mutations causing DCM in these cases from 15 genes (PSEN1, PSEN2, CSRP3, LBD3, MYH7, SCN5A, TCAP, TNNT2, LMNA, MYBPC3, MYH6, TNNC1, TNNI3, TPM1, and RBM20). Thirty-five of the 41 pediatric cases had relatives with adult-onset DCM. More males (66%) were found among children diagnosed after 1 year of age with DCM. Nineteen mutations in 9 genes were identified among 15 out of 41 patients; 3 patients (diagnosed at ages 2 weeks, 9 and 13 years) had multiple mutations. Of the 19 mutations identified in 12 families, mutations in TPM1 (32%) and TNNT2 (21%) were the most commonly found. Of the 6 patients diagnosed before 1 year of age, 3 had mutations in TPM1 (including a set of identical twins), 1 in TNNT2, 1 in MYH7, and 1 with multiple mutations (MYH7 and TNNC1). Most DCM was accompanied by advanced heart failure and need for cardiac transplantation. We conclude that in some cases pediatric DCM has a genetic basis, which is complicated by allelic and locus heterogeneity as seen in adult-onset DCM. We suggest that future prospective comprehensive family-based genetic studies of pediatric DCM are indicated to further define mutation frequencies in known genes and to discover novel genetic cause.     

Homozygous LMNA mutation R527C in atypical Hutchinson–Gilford progeria syndrome: evidence for autosomal recessive inheritance

Aim:  To describe two Chinese siblings of atypical Hutchinson–Gilford progeria syndrome (HGPS), with genetic diagnosis and special clinical manifestation.
Methods:  We screened the LMNA gene in four members of a consanguineous family, in which two children were suffering from atypical HGPS. Besides general HGPS features, such as growth retardation and characteristic appearance, special clinical phenotypes including disorders of digestive system and severe skeletal damages were observed.
Results:  Homozygous mutation 1579C>T, which predicts R527C, was identified in the exon 9 of LMNA among the affected siblings. Heterozygous carrier status 1579C>T was detected in both of the asymptomatic parents.
Conclusion:  Homozygous mutation R527C in LMNA yields atypical HGPS, and it suggests an autosomal recessive inheritance in this family.     

小儿急性肠套叠细菌移位的相关研究

目的 探讨小儿急性肠套叠细菌移位及机制.方法 应用聚合酶链反应(PCR)定性检测细菌共有的16 SrRNA和大肠杆菌特异性β半乳糖苷酶基因BG;肠系膜淋巴结细菌培养;免疫组织化学方法检测组织Bcl-2、Bax的表达.结果 正常对照组全血16SrRNA、大肠杆菌BG未检出,空气灌肠复位组16SrRNA阳性率30%,BG阳性率20%;手术复位组16SrRNA阳性率50%,BG阳性率60%,肠系膜淋巴结培养阳性率为50%;肠坏死肠切除组16SrRNA阳性率60%,BG阳性率70%,肠系膜淋巴结培养阳性率为60%;与对照组相比,肠套叠手术组凋亡调控基因Bcl-2、Bax表达明显升高,Bcl-2/Bax比值变小.结论 小儿急性肠套叠应用PCR技术早期可诊断细菌移位,而肠套叠肠缺血再灌注损伤诱导Bcl-2、Bax蛋白表达,是引起肠黏膜细胞凋亡最终发生细菌移位可能的机制.     

抗心磷脂抗体、抗心肌线粒体抗体测定在扩张型心肌病的意义

目的 比较抗心磷脂抗体（ＡＣＡ）和抗心肌线粒体抗体（ＡＣＭＡ）对小儿扩张型心肌病（ＤＣＭ）诊断及病情了解的作用。方法 采用ＥＬＩＳＡ法测定ＤＣＭ３０例ＡＣＡ－ＩｇＧ和ＡＣＭＡ－ＩｇＧ,并与健康儿童对照,同时检测心肌酶、心电图和多普勒超声心动图。结果 ＤＣＭ患儿ＡＣＡ－ＩｇＧ和ＡＣＭＡ－ＩｇＧ阳性率分别为５３．３％和４０．０％,均显著高于健康儿（Ｐ均〈０．００１）。ＡＣＡ－ＩｇＧ阳性儿心肌酶ＣＫ－Ｍ     

乙型肝炎病毒相关性肾炎患儿乙型肝炎病毒S基因突变分析

目的 探讨乙型肝炎病毒(HBV)S基因的突变在乙型肝炎病毒相关性肾炎(HBV-GN)发病中的意义.方法 从53例患儿(30例HBV-GN,5例肾病伴HBV携带者,18例HBV携带者)的血清中提取DNA,以聚合酶链反应技术对HBV-DNA的S基因进行扩增,然后对扩增产物进行测序.结果 (1)S3例患儿血清型中52例为adw,在HBV携带组中1例为adr.(2)HBV基因型分型:30例HBV-GN中29例为B型,1例为E型;5例肾病HBV携带患儿为B型;18例HBV携带患儿中17例为B型,1例为C型.(3)30例HBV-GN中21例(70%)有点突变,共计17种突变,11种为错义突变,6种同义突变.16例(16/21,76.2%)点突变导致S抗原中氨基酸取代,其中11例(11/16,68.8%)涉及丝氨酸、苏氨酸、酪氨酸等潜在促分裂素原活化蛋白激酶(MAPK)和蛋白酪氨酸激酶(PTK)的磷酸化位点.5例肾病伴HBV携带者中2例有同义突变,3例无任何突变;18例HBV携带者共有3例同义突变,无氨基酸改变.结论 HBV-GN患儿大多存在HBV S基因变异并导致S抗原中氨基酸取代,其中主要涉及丝氨酸、苏氨酸、酪氨酸等MAPK和PTK的磷酸化位点,这些重要位点氨基酸的取代可能在HBV-GN的发病中起作用.     

Investigation of impaired carbohydrate metabolism in pediatric liver transplant recipients

Abstract:  OGTT was performed in 28 liver transplants maintained with tacrolimus to investigate carbohydrate metabolism and assess risk factors for development of PTDM. None had PTDM that was detected by OGTT. Early PTDM in four cases (14.3%) resolved in follow-up. Five new cases (17.9%) demonstrated DCM (DCM  = IGT ± hyperinsulinemia). Fasting measurements were normal in two hyperinsulinemic cases. With one (20%, p > 0.05) exception none of the children with DCM were overweight or had a family history of diabetes. All five (100%) children with DCM had been given high cumulative dosage of steroids 18 (78.3%) – without DCM (p > 0.05). The median age of children with DCM was greater [4.3 (12.7–18.0) vs. 7.0 (2.3–18.0) yr, p < 0.01] and duration of follow-up longer [5.3 (2.3–7.0) vs. 2.5 (0.7–7.3) yr, p < 0.05]. Four children (80%) with DCM were pubertal (p < 0.05). However, neither age nor duration of follow-up or pubertal stage had significant effect on DCM development. Early PTDM is a transient phenomenon and is not predictive for future development of diabetes. DCM is frequently observed in liver transplanted children. Albeit the children with DCM were given high cumulative dose of steroids, were older, mostly were pubertal, and had longer duration of follow-up, we cannot draw firm conclusions on effects of the risk factors on carbohydrate metabolism because of the small sample size and relatively short duration of follow-up. Unlike fasting measurements, OGTT can detect all children with DCM.     

Progeria: a new kind of Laminopathy-- report of the First European Symposium on Progeria and creation of EURO-Progeria, a European Consortium on Progeria and related disorders

Progeria is a rare, genetically determined condition characterized by accelerated aging in children. Its name is derived from Greek (Geron) and means "prematurely old". The classic type is the Hutchinson-Gilford Progeria Syndrome (HGPS), which was first described in England in 1886 by Dr. Jonathan Hutchinson (1) and again in 1904 by Dr. Hastings Gilford (2). Since then and up to now, very little advancement toward the understanding of this devastating disorder has been accomplished. In early 2003 a French group succeeded in identifying point mutations in the LMNA gene, encoding A-type lamins, as the main cause of this disorder. These results were concomitantly confirmed by an American group, who identified mutations in LMNA, working on a large cohort of patients (3,4). HGPS is thus the most severe disorder added to the expanding list of "laminopathies", diseases caused by mutations in the LMNA gene encoding A-type lamins. To date, up to ten disorders are associated with mutations in LMNA. These disorders are diverse, both in their symptomatology and pattern of inheritance (see below and table 1). Due to the extremely low prevalence of progeria and the putative functional links between progeria and other premature aging disorders, setting-up a network about these disorders has become an absolute necessity. A reunion of families with a child affected with progeria, gathered within the European Progeria Family Circle, was held from September 25th to 29th 2003 in Magdeburg, Germany. In parallel to this event, a scientific symposium centered on clinical and molecular update of HGPS and related syndromes was organised. Several international experts, including clinical and molecular geneticists, cell biologists involved in the field of laminopathies, as well as paediatricians and other physicians with clinical experience in diagnosis, treatment and research on progeria and progeria-like syndromes presented their experience as well as their research projects and yet unpublished results. The main discussed topics as well as the developing research fields on progeria and related premature ageing disorders will be presented here.     

小儿扩张型心肌病心率变异性分析

目的分析扩张型心肌病(DCM)儿童的心率变异性(HRV)。方法DCM儿童23例(研究组),匹配健康儿童23例为对照(对照组)。采用康泰TLC3000A12通道动态心电图(EKG)分析系统描记24hEKG,分析心率、HRV的时域指标和频域指标。应用SPSS11.0软件进行统计学处理。结果与对照组比较,研究组最低心率明显增高(P<0.05),最高心率稍增高(P>0.05);HRV时域指标SDNN、SDANN、pNN50明显降低(P<0.05),rMSSD稍降低(P>0.05);HRV频域指标TP、ULF明显降低(P<0.05),VLF、LF、HF、LF/HF稍增高(P>0.05)。结论DCM儿童自主神经功能明显受损。     

儿童扩张型心肌病心脏无创性检查及其在鉴别诊断中的价值

目的　明确心脏无创性检查在儿童扩张型心肌病 (DCM )的变化及其在DCM与肥厚型心肌病 (HCM )、心内膜弹力纤维增生症 (EFE)鉴别中的价值。方法　对 14 6例DCM、4 1例HCM、5 9例EFE患儿 ,用心电图(EKG)、多普勒超声心动图 (ECHO)、彩色多普勒组织显像 (DTI)检查 ,并与 6 117名正常儿童EKG、2 86名正常儿童多普勒ECHO、14 3名正常儿童DTI检查对比。结果　EKG左室面电压增高者HCM、EFE显著多于DCM。多普勒ECHO检查 :DCM患儿心腔增大 ,左心室后壁 (LVPW )、室间隔 (IVS)不增厚 ;HCM患儿心腔不增大 ,LVPW、IVS增厚 ;EFE患儿心腔扩大 ,LVPW、IVS增厚。多普勒ECHO检查 :DCM和EFE患儿心脏收缩功能降低大于HCM患儿 ;DCM、HCM、EFE患儿心脏舒张功能下降差异无显著性。DTI检查 :HCM、DCM、EFE三者差异无显著性 ,DCM患儿心脏舒张功能降低重于收缩功能降低。DCM患儿MVRDeV <4cm/s者 ,预后极差。结论　EKG、多普勒ECHO、DTI对DCM的诊断和DCM与HCM、EFE的鉴别有重要价值。DTI对估计DCM预后有重要价值。     

小儿扩张型心肌病68例临床分析

目的：探讨小儿扩张型心肌病（DCM）的心电图特点及DCM并心律失常的相关因素。方法：总结68例1998年1月至 2010年3月住院的 DCM 患儿的临床资料,根据有无心律失常及严重程度分为3组：严重心律失常组(42例),非严重心律失常组(20例),无心律失常组(6例),比较各组的左心室舒张末期内径（LVED）、左心室射血分数（LVEF）及短轴缩短率（LVFS）。结果：68例DCM患儿心电图均存在异常,以窦性心动过速（91%）和异位搏动（86%）最常见。严重心律失常组LVED（74±6 mm）大于非严重心律失常组（65±4 mm）和无心律失常组（61±3 mm）;非严重心律失常组LVED亦大于无心律失常组,各组间差异有统计学意义（P<0.05）。严重心律失常组LVEF、LVFS 分别是(30±11)%、（22±4)%,低于非严重心律失常组［（37±12）%、（28±5）%］和无心律失常组［（45±9）%、（34±7）%］; 非严重心律失常组LVEF、LVFS亦低于无心律失常组,各组间差异有统计学意义（P<0.05）。结论：DCM患儿心电图异常以窦性心动过速和异位搏动最常见;心律失常是DCM的主要临床表现之一;心律失常的发生与左心室大小、心功能关系密切。