限制型心肌病的临床表现

本文报告限制型心肌病１０例，其中５例诊断为心内膜心肌纤维化（右室型４例，左室型１例）。其临床特点为慢性右心压塞征象；心室流入道收缩变形，心尖部闭塞，流出道增宽，巨大右房或左房扩大，房室瓣反流，左室收缩功能大致正常，舒张功能受限。其他５例诊断为特发性限制型心肌病，其特点为肺和体循环淤血，不同程度房室瓣反流，房性心律失常，心房明显扩大，左室不扩大，双室舒张末压升高，无明显心肌缺血或心包疾患。３例患者心脏病症状出现后半年至７年，死于顽固性心力衰竭。１例右室型，１例左室型心内膜心肌纤维化患者行心室内膜剥脱和房室瓣替换手术。     

四例限制型心肌病的核素心室造影特点

本文４例限制型心肌病患者中，有３例经Ｘ线右室造影证实为心内膜心肌纤维化。该病核素心室造影特点是：右心房明显扩大，右心室心尖部显示不清楚，流出道增宽，右心功能降低，肺部显像较差，左心室功能尚正常。     

以反复胸腔积液为主要表现的限制性心肌病一例

1 病例资料 患者男性,70岁,因喘憋、胸闷3年,加重2个月,于2012年3月30日入院.3年前无明显诱因出现喘憋、胸闷不适,未接受规范诊治.2个月前喘憋、胸闷加重,夜间不能平卧,伴四肢水肿.门诊查胸腔超声示:双侧胸腔积液,左侧95 mm,右侧55 mm.心脏超声示:心房扩大,双室大小正常,左室收缩、舒张功能减低,左室肌肥厚,二、三尖瓣反流,心包积液7 mm.诊断为"心功能不全、胸腔积液原因待查"收入我院心内科.     

Cardiomyopathies:Evolution of pathogenesis concepts and potential for new therapies

Cardiomyopathies are defined as diseases of the myocardium with associated structural and functional abnormalities. Knowledge of these pathologies for a long period was not clear in clinical practice due to uncertainties regarding definition,classification and clinical diagnosis. In recent decades,major advances have been made in the understanding of the molecular and genetic issues,pathophysiology,and clinical and radiological assessment of the diseases. Progress has been made also in management of several types of cardiomyopathy. Advances in the understanding of these diseases show that cardiomyopathies represent complex entities. Here,special attention is given to evolution of classification of cardiomyopathies,with the aim of assisting clinicians to look beyond schematic diagnostic labels in order to achieve more specific diagnosis. Knowledge of the genotype of cardiomyopathies has changed the pathophysiological understanding of their etiology and clinical course,and has become more important in clinical practice for diagnosis and prevention of cardiomyopathies. New approaches for clinical and prognostic assessment are provided based on contemporary molecular mechanisms of contribution in the pathogenesis of cardiomyopathies. The genotype-phe-notype complex approach for assessment improves the clinical evaluation and management strategies of these pathologies. The review covers also the important role of imaging methods,particularly echocardiography,and cardiac magnetic resonance imaging in the evaluation of different types of cardiomyopathies. In summary,this review provides complex presentation of current state of cardiomyopathies from genetics to management aspects for cardiovascular specialists.     

Idiopathic restrictive cardiomyopathy in childhood: A diastolic disorder characterized by delayed relaxation

Six children with idiopathic restrictive cardiomyopathy wereevaluated. Electrocardiographs evaluation disclosed left atrialdilatation and repolarization abnormalities. Echocardiographicexamination showed gross left atrial enlargement (182±29%of predicted values, P<0.001) in the presence of normal leftventricular cavity dimensions (99±6%, P: ns). Left ventricularwall thickness varied from normal to mild concentric hypertrophy(septum: 116±16%, P<0.05). Global left ventricularsystolic function was normal or slightly subnormal; however,the relaxation was significantly delayed throughout diastole.E/A ratio was 4.1 ± 1.4 and deceleration time 94±7ms. Marked ventricular filling occurred in mid-diastole as couldbe deduced from a prominent mid-diastolic mitral L wave on theDoppler flow tracing. Early filling contributed 56±6%,mid-diastolic filling 28±4% and atrial contraction 16±3%to total ventricular filling as estimated by determining E-area,L-area and A-area, respectively. The left ventricular pressurecurve showed a steady decline during mid-diastolic filling.This implies that the driving force for mid-diastolic fillingis not the increased left atrial pressure but suction by theventricle. The restrictive haemo-dynamics are therefore notcaused by increased intrinsic stiffness of the ventricular wall,but most likely result from serious dysfunction and delay ofthe active relaxation of the ventricle. Progression of the diseasewas observed in three out of six patients, resulting in deathor extreme low cardiac output. The three other patients remainedclinically stable during the follow-up period of 6–10years.     

HYPOXIC CARDIOMYOPATHY: ACUTE MYOCARDIAL DYSFUNCTION AFTER SEVERE HYPOXIA

Abstract Five cases of acute transient myocardial dysfunction in previously well people after severe hypoxic episode are described. In all cases the hypoxic episode was associated with drug overdose and its complications. Pulmonary infiltrates on chest X-ray consistent with pulmonary edema developed in four cases and gated heart pool scanning confirmed severe cardiovascular dysfunction in all cases.     

扩张型心肌病抗二磷酸腺苷／三磷酸腺苷载体的自身抗体的研究

应用间接微固相放射免疫法检测了３８例扩张型心肌病（ＤＣＭ）患者血清中抗二磷酸腺苷／三磷酸腺苷（ＡＤＰ／ＡＴＰ）载体的抗体，阳性率为１６／３８（４２％），而冠心病、风湿性心脏病及正常人群未检出此抗体。抗体阳性的ＤＣＭ患者的心力衰竭时间多短于１年。抗体效价与患者左室射血分数无明显相关。但发现ＤＣＭ患者抗ＡＤＰ／ＡＴＰ载体的抗体阳性血清可抑制牛心肌细胞线粒体膜的１４Ｃ－ＡＤＰ转运，而不影响牛肝细胞线粒体的能量转运。提示抗ＡＤＰ／ＡＴＰ载体的抗体具有器官特异性及致病作用，在ＤＣＭ发病上可能起一定作用。     

磁共振成像对限制型心肌病诊断价值的研究进展

限制型心肌病(restrictive cardiomyopathy,RCM)在临床上尚缺乏统一的诊断标准,传统的检查方法如超声、心血管造影主要通过心脏形态及血流动力学的改变提供一定的诊断依据,但缺乏心肌组织学改变的诊断依据。心脏磁共振(cardiac magnetic resonance,CMR)时间及空间分辨率高,可实现心脏动态电影、首过灌注、延迟强化、T1mapping、心肌应力及T2~*等多参数、多序列成像,提供解剖学、功能学甚至组织学方面的信息,以其准确性、无创性及多参数成像,成为心功能评价和心肌病诊断的一站式检查。本文介绍了RCM分类、病因及病理生理改变,重点综述了近年来新兴CMR技术在RCM的诊断及预后评价中的价值。     

NT pro B type natriuretic peptide levels in constrictive pericarditis and restrictive cardiomyopathy

Background

The differentiation of constrictive pericarditis (CP) from restrictive cardiomyopathy (RCM) may be clinically difficult and may require multiple investigations. Even though brain natriuretic peptide (BNP) is shown to be higher in patients with RCM as compared to CP, the clinical utility is not fully established especially in Indian patients known to have advanced CP and myocardial involvement.

Methods and results

We measured NT-pro-BNP levels in 49 patients suspected of having either CP or RCM, diagnosed on the basis of echocardiography, computed tomography, magnetic resonance imaging, endomyocardial biopsy and cardiac catheterization data as needed. Twenty nine patients (Mean age – 26 yrs, 24 males) had CP and 20 patients (Mean age – 39 yrs, 14 males) had RCM. The median plasma NT-pro-BNP levels were significantly higher in RCM as compared to CP [1775 (208–7500) pg/ml vs 124 (68–718) pg/ml, respectively; p = 0.001]. A cut off value of 459 pg/ml had sensitivity, specificity and overall accuracy of 90%, 86% and 88% respectively, for differentiating CP from RCM.

Conclusions

The NT-pro-BNP levels are significantly elevated in RCM as compared to CP.     

Cardiac amyloidosis: An update on pathophysiology,diagnosis, and treatment

The amyloidoses are a group of systemic diseases characterized by organ deposition of misfolded protein fragments of diverse origins. The natural history of the disease, involvement of other organs, and treatment options vary significantly based on the protein of origin. In AL amyloidosis, amyloid protein is derived from immunoglobulin light chains, and most often involves the kidneys and the heart. ATTR amyloidosis is categorized as mutant or wild-type depending on the genetic sequence of the transthyretin (TTR) protein produced by the liver. Wild-type ATTR amyloidosis mainly involves the heart, although the reported occurrence of bilateral carpal tunnel syndrome, spinal stenosis and biceps tendon rupture in these patients speaks to more generalized protein deposition. Mutant TTR is marked by cardiac and/or peripheral nervous system involvement. Cardiac involvement is associated with symptoms of heart failure, and dictates the clinical course of the disease. Cardiac amyloidosis can be diagnosed noninvasively by echocardiography, cardiac MRI, or nuclear scintigraphy. Endomyocardial biopsy may be needed in the case of equivocal imaging findings or discordant data. Treatment is aimed at relieving congestive symptoms and targeting the underlying amyloidogenic process. This includes anti-plasma cell therapy in AL amyloidosis, and stabilization of the TTR tetramer or inhibition of TTR protein production in ATTR amyloidosis. Cardiac transplantation can be considered in highly selected patients in tandem with therapy aimed at suppressing the amyloidogenic process, and appears associated with durable long-term survival.     

Cardioverter-defibrillator implantation in myeloma-associated cardiac amyloidosis

A 62-year-old woman with multiple myeloma and light-chain amyloidosis with significant heart involvement developed an in-hospital cardiac arrest. After cardiopulmonary resuscitation, a stable sinus rhythm without any cerebral damage was restored, and the patient was admitted to the coronary care unit. A cardioverter-defibrillator was implanted, and it successfully intervened in two sustained ventricular tachycardia episodes and one ventricular fibrillation episode, which were recorded during hospitalization. After achieving discrete cardiac compensation, the patient was transferred to the emergency medicine department where she underwent chemotherapy for multiple myeloma. The patient died 40 days after admission from refractory heart failure. In the literature, there are studies that describe the use of cardioverter-defibrillator implantation in cardiac amyloidosis; however, at present, there is no evidence of a beneficial effect on survival with the use of this intervention. A high index of suspicion for amyloid heart disease and early diagnosis are critical to improving outcomes.     

Giant Eustachian valve and left ventricular systolic dysfunction in a patient with non-dilated amyloid cardiomyopathy

Amyloid cardiomyopathy is characterized by non-dilated thick-walledleft ventricular, thickening of interventricular septum andright ventricular free wall, biatrial enlargement associatedwith granular ‘sparkling’ appearance of the myocardium.Typically, decreased left ventricular compliance results inabnormal diastolic functions but left ventricular systolic functionsare preserved until late in the course of the illness when leftventricle starts to dilate culminating into dilated cardiomyopathy.We present a 77-year-old patient who had typical echocardiographicfeatures of amyloid heart disease, a giant Eustachian valveresembling cor triatriatum dexter and left ventricular systolicdysfunction without associated left ventricular dilatation.     

Primary cardiac lymphoma mimicking infiltrative cardiomyopathy

Primary cardiac lymphoma is a rare malignancy which has been described as thickened myocardium due to the infiltration of atypical lymphocytes and accompanying intracardiac masses. Here, we report a case of a primary cardiac lymphoma without demonstrable intracardiac masses, mimicking infiltrative cardiomyopathy. A 40‐year‐old male presented with exertional dyspnoea and was diagnosed as having restrictive cardiomyopathy with severely decreased LV systolic function. Endomyocardial biopsy was performed and the diagnosis of primary cardiac lymphoma was confirmed. After appropriate chemotherapy, he recovered his systolic function fully.     

Hydroxychloroquine-induced restrictive cardiomyopathy.

Chloroquine (Hydroxychloroquine)-induced cardiomyopathy is a rare but potentially life-threatening condition. Cessation of the culprit drug, along with aggressive afterload reduction therapy, has been associated with halting of disease progress and even improvement in patients' clinical and histologic status. Echocardiography is a fundamental tool in the identification and assessment of patients with cardiomyopathy, with particular utility in the detailed assessment of biventricular systolic and diastolic function. It also provides an objective and non-invasive means of assessing treatment response. We present a case of a 51-year-old woman with hydroxychloroquine-induced restrictive cardiomyopathy and correlate clinical, echocardiographic and anatomic pathologic findings both at initial presentation and following treatment.     

扩张型心肌病血浆降钙素基因相关肽水平变化及其意义

本文研究扩张型心肌病(DCM)患者血浆降钙素基因相关肽(CGRP)水平的变化规律及意义,采用放射免疫分析法测定35例DCM患者及30例对照者血浆CGRP水平.结果:DCM患者血浆CGRP水平明显高于正常组(P<0.05),与左室射血分数呈显著负相关(r=-0.7926,P<0.01),与肺动脉压力呈显著正相关(r=0.8789,P<0.001).20例DCM患者治疗后血浆CGRP水平明显降低(P<0.05),提示血浆CGRP增高程度与病情严重程度一致,作为机体重要的防御和代偿机制参与DCM充血性心衰的病理生理过程.     

国产氨力农静脉注射对充血性心力衰竭急性血液动力学效应

本研究对10例扩张型心肌病心力衰竭患者静注国产氨力农,先给予负荷量0.5～1.0mg/kg,继以维持量5～10μg·kg~(-1)/min,共360min,停药后60min进行血液动力学监测。结果表明,心输出量增加21%,肺毛细血管楔压下降40%,平均动脉压下降9%。     

A case of pediatric cardiomyopathy with severely restrictive physiology

Summary A rare case of a 6-year-old male with idiopathic familial cardiomyopathy manifesting severely restrictive physiology is reported. The patient showed congestive heart failure with dilatation of both atria with a normal ventricular cavity. A square-root configuration was revealed in the ventricular pressure tracings. His elder brother had died of hypertrophic cardiomyopathy at the age of 3 years. Endomyocardial biopsy disclosed marked disorganization of muscle bundles with hypertrophy of the myocytes and interstitial fibrosis. The patient died suddenly during hospitalization. Autopsy revealed diffuse hypertrophy of both the ventricular walls and the ventricular septum with extensive myocardial disorganization and interstitial fibrosis. These advanced myopathic changes in the myocardium may have been related to the restrictive physiology in this case.