Restrictive cardiomyopathy as a manifestation of primary amyloidosis

Primary amyloidosis is a rare disease, cardiac involvement occurs in up to 40% of patients. Diffuse amyloid deposits cause an impairment of myocardial systolic and diastolic function. In this paper we are presenting a case of a 54-year-old woman. The woman was admitted because of progressive fatigue, dyspnoea, chest pain, later she experienced hypotension, dyspepsia, and enterorrhagia. ECG showed decrease in QRS amplitude. We have found an echocardiographic evidence of wall hypertrophy. Right cardiac catheterization showed a restrictive situation. Immunobinding of serum and urine revealed monoclonal kappa light chains. The diagnosis was determined by rectal biopsy. Unfortunately, amyloid deposits caused progressive heart failure, hemorrhage, and death just before the diagnosis of primary amyloidosis could be determined on the basis of results of the immunofixations of serum and urine proteins (detection of the monoclonal light chains kappa) and from biopsy specimens taken from rectum (amyloid deposits).     

限制型心肌病

限制型心肌病是较为罕见的心肌病,目前尚无统一的诊断标准。美国心脏病协会（AHA）在2006年发表的关于心肌病定义和分类的专家共识指出,心肌病可以单纯局限于心脏,也可以是全身系统性疾病的一部分,如果病变仅局限于心肌称为原发性心肌病,而继发性心肌病是指心肌的病变是全身系统性疾病的一部分。在此分类中,限制型心肌病被归于原发性心肌病的范畴,散发及家族病例都有报道。     

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限制型心肌病(RCM)是一类以限制性舒张功能障碍为主要特征的心肌病,其诊断目前尚缺乏公认的标准,需要结合临床表现和影像学检查综合诊断,超声心动图和心脏磁共振(CMR)是重要的辅助检查。RCM多继发于全身疾病,常见于淀粉样变性、含铁血黄素沉积、高嗜酸细胞综合征等;一些肌结蛋白或结蛋白基因突变可导致特发性RCM。RCM预后较差,目前尚缺乏有效的药物治疗手段。对于一些患者,早期进行心脏移植可能会改善其预后。     

Restrictive cardiomyopathy

Opinion statement Of the three major functional categories of cardiomyopathies (dilated, hypertrophic, and restrictive), the restrictive cardiomyopathies (RCMs) are the least common in the Western world, but unfortunately often are associated with the greatest morbidity and mortality. Infiltrative disease of the myocardium (often caused by amyloidosis) is a common cause of RCMs and has a significantly lower long-term survival rate when compared to cardiomyopathies of various other causes [1••]. Treatment of the RCM is, in general, difficult and often ineffective. Because of the abnormalities of diastolic filling that are characteristic of this condition, general measures to reduce venous and systemic congestion such as with the use of diuretics, are desirable but often result in an attendant reduction in stroke volume and cardiac output. Digoxin, calcium channel blocking drugs, and beta-adrenergic blocking agents are of limited value, although they may be used with benefit to control the heart rate response in the subgroup of patients with atrial fibrillation. Angiotensin-converting enzyme inhibitors are generally ineffective in RCM. Targeted therapy directed against specific causal entities (such as the use of somatostatin analogues in carcinoid syndrome or iron chelation with desferrioxamine in hemochromatosis) may be more effective than simple symptomatic therapy. Differentiation of RCM from constrictive pericarditis is crucial, since constriction may be treated effectively by surgical removal of the thickened pericardium. A limited number of patients appear to have benefited from novel treatment strategies, such as autologous stem cell transplant in amyloidosis, balloon valvuloplasty of stenotic tricuspid or pulmonary valves in cardiac carcinoid syndrome, and cardiac transplantation. Truly effective therapy for RCM is generally lacking, and the best chance for optimizing the clinical outcome is early detection and aggressive medical treatment in an attempt to maintain the highest possible level of patient function for as long as possible.     

Restrictive cardiomyopathy in childhood

Restrictive cardiomyopathy is a rare heart muscle disease in childhood. By presenting a case report of a 15 year old adolescent, the aim of this article is to describe diagnosis, pathogenesis and therapy of restrictive cardiomyopathy. A review of the literature comprising pediatric studies on restrictive cardiomyopathy serves as a basis to discuss recommendations for therapeutic strategies in pediatric patients with this rare disease.     

Restrictive cardiomyopathy in dermatomyositis

The association between dermatomyositis and restrictive cardiomyopathy has not been reported before. We present here the clinical, echocardiographic and muscle biopsy data for a patient with dermatomyositis and restrictive cardiomyopathy. In a 78-year-old male with a history of arterial hypertension, recurrent episodes of atrial fibrillation and syncopes, rupture of an infra-renal aortic aneurysm with complications (recurrent QT-prolongation, lumbo-sacral plexopathy, transient ischaemic attack, peripheral embolism), monoclonal gammopathy, subdural haematoma, focal seizures, megaloblastic anaemia, leucopenia, eosinophilia, elevated muscle enzymes and increasing tiredness, dermatomyositis was diagnosed upon clinical presentation, muscle enzyme and muscle biopsy findings. Cardiological examination revealed atrial fibrillation, left anterior hemiblock and restrictive cardiomyopathy. After the exclusion of various differentials for restrictive cardiomyopathy, a causative relationship between restrictive cardiomyopathy and dermatomyositis was assumed. This case suggests the need for suspecting restrictive cardiomyopathy in patients with dermatomyositis. Patients with dermatomyositis should undergo a comprehensive cardiological investigation as soon as the neurological diagnosis is established.     

Restrictive cardiomyopathy caused by adipositas cordis

Adipositas cordis is a very rare disorder, characterized byfatty infiltration of myofibers. It has been related to dilatedor hypertrophic cardiomyopathy and obesity. In this report,however, we present a non-obese patient, presenting with a restrictivesyndrome and showing massive infiltration of adipocytes in theinterventricular septum, proving adipositas cordis.     

Restrictive cardiomyopathy caused by chloroquine.

A 59 year old white woman who had been treated with chloroquine phosphate for 25 years presented with signs of congestive heart failure and was diagnosed as having restrictive cardiomyopathy by non-invasive methods. Electron microscopy of a biopsy specimen of skeletal muscle showed lesions compatible with chloroquine myopathy. The patient died five weeks after presentation. Electron microscopy of heart tissue showed similar lesions to those of the skeletal muscle.     

Restrictive cardiomyopathy following acute myocarditis--a case report

A fifty-five-year-old man developed intractable heart failure four weeks after upper respiratory infection. His central venous pressure was as high as 300 mmH2O. Two-dimensional echocardiogram revealed no muscular hypertrophy of the ventricles, no pericardial thickness, and no pericardial effusion. On catheterization, hemodynamic data were compatible with restrictive cardiomyopathy. Transvenous endomyocardial biopsy of the left ventricle was performed. Histologic examination strongly suggested that cardiomyopathy developed after acute myocarditis.