Severe dilated cardiomyopathy as a consequence of Ecstasy intake

Dilated cardiomyopathy (DCM) is one of the most common causes of heart failure with a prevalence of 1:2500. There are several primary and secondary etiologic factors, including gene mutations, infection agents, particularly viruses, toxins, autoimmune, and systemic disorders, and pheochromocytoma, neuromuscular, metabolic, mitochondrial, and nutritional disorders. However, a precise diagnosis can be reached only in no more than 50% of all cases. Herein, we report a rare case of hepatic damage and severe DCM as a consequence of relatively popular socially used narcotic-Ecstasy (3,4-methylenedioxy-N-methylamphetamine [MDMA]).     

Loss of lamin A/C expression revealed by immuno-electron microscopy in dilated cardiomyopathy with atrioventricular block caused by<Emphasis Type="Italic"> LMNA</Emphasis> gene defects

Mutations of the LMNA gene encoding the lamin A and C nuclear envelope proteins cause an autosomal dominant form of dilated cardiomyopathy (DCM) with atrioventricular block (AVB). The aim of this study was to investigate ultrastructural nuclear membrane changes by conventional electron microscopy and protein expression by immuno-electron microscopy in the heart of patients with DCM and AVB due to LMNA gene mutations. Four immunohistochemical techniques were used: pre-embedding and post-embedding in Epon-Araldite resin and London Resin White (LRW), with and without silver enhancement. Parallel light microscopy immunohistochemistry studies were performed. Conventional electron microscopy showed a loss of integrity of the myocyte nuclei with blebs of the nuclear membrane, herniations and delamination of the nuclear lamina and nuclear pore clustering. Post-embedding LRW was the most informative technique for morphology and immuno-labelling. Immuno-labelling was almost absent in the nuclear envelope of patients with LMNA gene mutations, but intensely present in controls. The loss of labelling selectively affected myocyte nuclei; the endothelial cell nuclei were immunostained in patients and controls. Light immunohistochemistry confirmed the results. These findings confirm the hypothesis that LMNA gene defects are associated with a loss of protein expression in the selective compartment of non-cycling myocyte nuclei.     

Cardiomyopathy associated with Leigh's disease

Summary Clinical and postmortem findings in a female infant, suffering from Leigh's disease and cardiomegaly are described. The cardiac enlargement was due to symmetrical thickening of both ventricular walls and the septum. On light microscopy a widespread fibre disarray with a slight predilection for the ventricular septum was observed. Ultrastructural changes included an extreme reduction in the number of myofibrils and an excess of mitochondria. Abnormalities of the mitochondrial structure with tubular and myelinic transformation of the cristae suggested that a mitochondriopathy is responsible for the cardiomegaly in Leigh's disease.Dedicated to Prof. Dr. Waldemar Hort on the occasion to his 60th birthday     

Left bundle branch block: prevalence, incidence, follow-up and outcome

In a randomly selected population screening study of 8450 menand 9039 women 33 to 71 years of age conducted in Iceland in1967–1977, 27 men and 17 women were found to have leftbundle branch bock (LBBB). The prevalence of LBBB at that timewas 0.43% for men and 0.28% for women. The incidence of LBBBwas 3.2 per 10 000 per year for men and 3.7 per 10 000 per yearfor women.All except one of 37 alive patients with LBBB wereexamined in 1984 including chest X-ray, echocardiography andexercise testing (Bruce protocol). Eight men had had myocardialinfarction (P<0.05), 12 had angina pectoris, 15 had hypertension,7 had cardiomyopathy, 13 had primary conduction disease, and3 had pacemakers. Five men and two women had died in comparisonwith 18 men and 1 woman in an age-matched control group of 176people (P ns). Three of 5 decreased LBBB men had cardiomyopathyat autopsy. Three men died suddenly. The two women died of noncardiaccauses. Only one patient in the control group had cardiomyopathy(P< 0.01). There was no significant difference in other cardiacdiagnoses between the groups. Eleven LBBB women out of thirteenhad a normal exercise duration (6 min) and 11/17 men exercisednormally (7 min). In comparison with the control group, theLBBB patients had an increased LV diameter 2.85±0.38vs 2.58±0.38 cm m^-2 body surface area (P<0.01). Therewas no difference between the groups in left atrial diameteror LV wall thickness.In conclusion, the prevalence of LBBB was0.43% for men and 0.28% for women of middle age. The incidencewas 3.2 per 10 000 per year for men and 3.7 per 10 000 per yearfor women. The prognosis of LBBB is relatively benign apartfrom its association with dilated cardiomyopathy. Few patientsrequire pacemakers. The mean LV diameter is increased in randomlyselected patients with LBBB, but only those with an underlyingdisorder.     

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     

52例扩张型心肌病的X线、超声及心电图综合研究评价

目的：为了解扩张型心肌病（ＤＣＭ）的临床,Ｘ线,Ｂ超与心电图之间的规律性联系。方法：一分析了５２例被临床证实的ＤＣＭ患。结果：心脏Ｘ线检查;（１）肺淤２血占７０％（３７／５２）;（２）５９．６％心脏扩大呈”普大“或”主动脉”型;（３）心胸比率：０．５３４占２８．８％,０．５７－０．６５占６１％,０．７１有５例,且全部死亡;（４）心搏：正常有１５例,减弱有３７例;（５）２例５０岁以上患行冠状     

Acute clinical deterioration in a patient with end-stage dilated cardiomyopathy and left ventricular thrombus formation

The case of a 17-year-old male patient with severe end-stage dilated cardiomyopathy and a large thrombus formation within the cavum of the left ventricle is reported. After an acute thrombectomia combined with a partial left ventriculectomy (Batista procedure), the patient was successfully treated with an appropriate left ventricular assist device (LVAD) system using a centrifugal nonocclusive pump (Biomedicus, Medtronic, Anaheim, CA, U.S.A.). Mechanical support was removed on Day 9, and the patient was discharged from the hospital on Day 19. The effectiveness of emergency mechanical support in patients with very unfavorable prognoses is discussed.     

Myopathy and hypertrophic cardiomyopathy with selective lysis of thick filaments

We present a undescribed condition in a girl who died at 8 years of hypertrophic cardiomyopathy. Muscle and endomyocardial biopsies disclosed a selective loss of thick filaments ultrastructurally. In muscle biopsy histochemical abnormalities of myofibrillar AT-Pase were confined to type 1 fibres. Gel electrophoresis of muscle homogenate showed no qualitative abnormalities of slow and fast myosin heavy chains (MHC) and light chains, and the amount of the different myosin isozymes was in agreement with histochemical myofibrillar ATPase findings. The pathogenetic mechanisms have not been elucidated in this case but we suspect an abnormality of the-cardiac MHC gene, the only gene expressed in the heart and in type 1 skeletal muscle fibres.     

Friedreich's ataxia presenting with pure sensory ataxia: a long-term follow-up study of two patients

We describe two patients with Friedreich's ataxia whose presenting symptomatology was for years progressive tabetic ataxia. Based upon the initial clinical, electrophysiological and nerve biopsy data, a diagnosis of idiopathic sensory neuropathy was established. Subsequent examination of the kin showed that three sisters of case 1 had Friedreich's ataxia. Upon serial clinical and electrocardiographic study, both patients eventually developed a florid Friedreich's ataxia, including cardiomyopathy. Our findings indicate that at onset Friedreich's ataxia may be indistinguishable from sensory neuropathy and also that serial examination and investigation of kinship are essential steps for accurate diagnosis.     

The relationship of myocarditis to dilated cardiomyopathy

Three patients with congestive cardiomyopathy are reported inwhom high neutralizing antibody titres to Coxsackie B viruseswere detected. At post-mortem examination, all three had histologicallydemonstrable chronic inflammation of the myocardium. The heartsof ten patients dying in cardiac failure due to other causesshowed no comparable inflammatory infiltration. This providesfurther evidence that Coxsackie B viral myocarditis is involvedin the pathogenesis of some cases of dilated cardiomyopathy. One patient also had pulmonary veno-occlusive disease. Thishas been reported in association with myocarditis once previouslyin an infant. A viral aetiology has been postulated. It seemslikely in this patient to have also been due to a CoxsackieB virus.