Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family

A 7-month-old boy with gross motor delay and failure to thrive presented with rhabdomyolysis following an acute asthmatic episode. During hospitalization an electrocardiographic conversion to a Wolff-Parkinson-White type 1 (WPW) pattern took place. Duchenne muscular dystrophy (DMD) was suspected based on elevated creatine kinase (CK) serum levels, muscle biopsy, and family history. The diagnosis was confirmed by molecular analysis, which documented a deletion corresponding to cDNA probe 1-2a in the dystrophin gene, in the propositus and in an affected male cousin of his mother. “Idiopathic” hyperCKemia was found in the propositus, his father, and 5 of his relatives. We suggest that the unusually early and severe manifestations of DMD in this patient may be related to the coincidental inheritance of the maternal DMD gene and of a paternal gene, causing hyperCKemia. © 1995 Wiley-Liss, Inc.     

Successive infection of coxsackievirus B3 and encephalomyocarditis virus: an animal model of chronic myocarditis.

Successive infection of coxsackievirus B3 and encephalomyocarditis virus was investigated as a disease model of chronic myocarditis. Four-week-old C3H/He mice were inoculated with coxsackievirus B3 and then inoculated with encephalomyocarditis virus at 8 weeks old. The hearts were evaluated on histopathological changes compared with those of non-infected mice and mice infected with either virus alone. At 10 weeks old, the hearts of the mice infected successively with both viruses showed co-existence of fibrosis surrounding calcified lesions and marked cellular infiltration with myocardial necrosis. These findings resembled chronic active myocarditis in humans, unlike the lesions due to either virus alone. At 12 weeks old, the hearts of all the infected mice showed fibrosis with scarce cellular infiltration. The successively infected hearts also showed a significantly higher heart weight to body weight ratio than that of the non-infected control mice, and localized wall thinning in the damaged regions. Thus, we conclude that successive infection additively causes myocardial damage that resembles chronic myocarditis and may produce a heart condition similar to dilated cardiomyopathy.     

Pathological analysis of hypertrophic cardiomyopathy simulating dilated cardiomyopathy

The pathomorphologic features of hypertrophic cardiomyopathy simulating dilated cardiomyopathy in the late stage (HCM-DCM) were compared with those of ordinary hypertrophic cardiomyopathy (HCM). Seven autopsied hearts with HCM-DCM and 11 with HCM were assessed quantitatively using an image analyzer. Unlike HCM, significant left ventricular enlargement and wall thinning were observed in HCM-DCM, and the percentage areas of massive fibrosis and disarray were significantly greater. In HCM-DCM, the disarray was distributed diffusely, whereas massive fibrosis was distributed more intensively in the ventricular septum and anterior wall than in the lateral and posterior wall. Narrowing of intramyocardial small arteries was observed more frequently in HCM-DCM, especially in the ventricular septum and anterior wall, than in HCM. These results suggest that the enlargement and wall thinning of the left ventricle in HCM-DCM are attributable to non-uniform progression of massive fibrosis, which is closely related to small-arterial lesions.     

Anti-mitochondrial flavoprotein autoantibodies of patients with myocarditis and dilated cardiomyopathy (anti-M7): interaction with flavin-carrying proteins, effect of vitamin B2 and epitope mapping

Vitamin B2 and flavin cofactors are transported tightly bound to immunoglobulin in human serum. We reasoned that anti-mitochondrial flavoprotein autoantibodies (alpha Fp-AB) present in the serum of patients with myocarditis and cardiomyopathy of unknown aetiology may form immunoglobulin aggregates with these serum proteins. However, immunodiffusion and Western blot assays demonstrated that the flavin-carrying proteins were not recognized by alpha Fp-AB. Apparently the flavin moiety in the native protein conformation was inaccessible to alpha Fp-AB. This conclusion was supported by the absence of an immunoreaction between the riboflavin-binding protein from egg white and alpha FP-AB. Intravenous application of vitamin B2 to rabbits immunized with 6-hydroxy-D-nicotine oxidase, a bacterial protein carrying covalently attached FAD, did not neutralize alpha Fp-AB which had been raised in the serum of the animals. FAD-carrying peptides generated from 6-hydroxy-D-nicotine oxidase by trypsin and chymotrypsin treatment were not recognized by the alpha Fp-AB, but those generated by endopeptidase Lys were. This demonstrates that the epitope recognized by alpha Fp-AB comprises, besides the flavin moiety, protein secondary structure elements.     

用组织多普勒技术评价扩张型心肌病室壁运动

目的　用组织多普勒技术分析扩张型心肌病 (DCM)室壁运动。方法　选择 DCM患者和正常对照各 30例 ,用组织多普勒技术于胸骨旁长轴检测室间隔及左室后壁中间段短轴方向心肌运动速度 (MV) ,并计算心肌运动速度阶差 (MVG) ;经心尖窗检测左室前、后、下、侧壁和前、后室间隔中间段长轴方向 MV。结果　 DCM组患者有 4种 MV频谱异常表现 ,且 MV明显低于对照组 (P<0 .0 5 ) ,并以长轴为甚 ;MVG明显减低 (P<0 .0 5 ) ;室壁各种速度差异消失。结论　组织多普勒技术可定量反映 DCM患者室壁运动异常     

五种免疫相关性心血管疾病的免疫学研究

对扩张型心肌病、风湿性心脏病，原发性高血压，冠心病及肥厚型心肌病进行外周血清可溶性白细胞介素２受体，Ｔ淋巴细胞亚群及自然杀伤细胞活性的检测，并与健康对照组比较，结果显示：ＤＣＭ组，ＲＨＤ组及ＥＨＴ组的ｓＩＬ－２Ｒ明显高于ＮＣ组，而ＤＣＭ、ＲＨＤ风湿活动组的ＮＫ活性低于ＮＣ组，ＥＨＴ组ＮＫ活性高于ＮＣ组。     

QT Dispersion Level and Its Clinical Significance.in Dilated Cardiomyopathy

［1］Richardson CP, Mckenna RM, Bristow CM, et al.Report of the 1995 Word Health Organization/International Society and Federation of Cardiology Task Force on the definition and classification of cardiomyopathies. Circulation, 1996,93: 841 ［2］Barr CS, Naas A, Freeman M, et al. QT dispersion and sudden unexpected death in chronic heart failure. Lancet, 1994,343:327 ［3］Martin AB, Garson A, Perry JC, et al. Prolonged QT interval in hypertropic and dilated cardiomyopathy in children. Am Heart J, 1994,127(1):64 ［4］Pye M, Quinn AC, Cobble SM. QT dispersion: a non-invasive marker of susceptibility to arrhythmia in patients with sustained ventricular arrhythmias?Br Heart J, 1994,71(5):51 ［5］Berger RD, Kasper EK, Baughman KL, et al. Beat to beat QT interval variability: novel evidence for repolarization lability in ischemic and non ischemic dilated cardiomyopathy. Circulation, 1997, 96 (5):1557 ［6］Wolfram G, Ulrike S, Volker M, et al. QT dispersion and arrhythmic events in idiopathic dilated cardiomyopathy. Am J Cardiol, 1997,78: 458 ［7］Fei L, Goldman JH, Prasal K, et al. QT dispersion and RR variations on 12-lead ECGs in patients with congestive heart failure secondary to idiopathic dilated cardiomyopathy. Eur Heart J, 1996,17: 258 ［8］Pan YZ, Guo NS, Xing ZF, et al. The relation between QT dispersion and ventricular arrhythmia of dilated cardiomyopathy. Chin J Inter Medi, 1996,35(11):73 ［9］Galinier M, Vialette JC, Fourcade J, et al. QT interval dispersion as a predictor of arrhythmic events in congestive heart failure. Importance of aetiology. Eur Heart J, 1998,19(7) :1054     

正常及突变MyBPC与肌凝蛋白结合功能的对比研究

目的　比较正常及突变 My BPC与肌凝蛋白的结合功能 .方法　重叠 PCR法制备正常及突变 My BPC的表达载体 ,大肠杆菌 BL- 2 1中表达并提纯蛋白 . 10 0 μL 含 2 .2 μmol· L- 1肌凝蛋白溶液中 ,分别加入不同浓度 My BPC蛋白 ,经离心、 SDS- PAGE,密度法测定两者的结合率 .结果　3774D1 8,32 2 3S1 4 0 结合率分别为 (6 8.2 0± 1.72 ) % ,(2 4.41±2 .10 ) % ,较正常 My BPC (82 .70± 2 .44 ) %显著降低 (n=5 ,P<0 .0 1) .结论　为家族性肥厚型心肌病突变基因的“肽类毒剂”致病学说提供了依据     

单电极VDD心脏起搏治疗肥厚性梗阻型心肌病(附1例报告)

目的：用ＶＤＤ心脏起搏治疗１ 例肥厚性梗阻型心肌病（ＨＯＣＭ）,并观察其临床及血流动力学效果。　方法：常规方法植入ＶＤＤ型心脏起搏系统,设置房室起搏间期１２０ ｍ ｓ,心房感知０．１５ ｍ Ｖ,起搏前后进行左室流出道压力阶差等血液动力学对比观察。　结果：术后房室同步起搏率为１００％ ,左室流出道压力阶差从６．８ ｋＰａ（５１．４ｍ ｍ Ｈｇ）降至２．８１３ ｋＰａ（２１．１ ｍ ｍ Ｈｇ）,二尖瓣前移现象消失,临床症状明显改善,随访期间未再出现晕厥。　结论：ＶＤＤ起搏植入简便、房室同步功能稳定,对ＨＯＣＭ 患者不失为一种新的有效的治疗方法。     

超声心动图对扩张性心肌病患者左室舒张功能的评价

为评价超声心动图对扩张性心肌病（ＤＣＭ）患者左室舒张功能的诊断价值。方法：用超声心动图 和放射性核素显像（ＲＮＶ）对２０例ＤＣＭ患者和２０例同龄正常人的左室舒张功能进行对照分析。结果：ＤＣＭ组左室 舒张功能ＲＮＶ指标峰充盈率（ＰＦＲ）明显降低,同对照组比较差异有显著性（Ｐ＜０．０５）;超声指标二尖瓣血流频谱早 期充盈峰速度（νＥ）、晚期充盈峰速度（νＡ）、νＡ／νＥ等参数同对照组比较无明显差异（Ｐ＞０．０５）,表现为“正常”。结 论：超声心动图舒张功能指标νＥ、νＡ、νＡ／νＥ不能真实反映ＤＣＭ患者的左室舒张功能。