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This is the case of a 42 year-old male with systemic amyloidosis, probably primary, and heart involvement. Physiopathological and clinical aspects are described as well as the rarity of the diagnosis in vivo. The limited aspects of therapy are also described.

A rare case of peliosis hepatis associated with idiopathic restrictive cardiomyopathy is reported. A 75-year-old man was admitted for evaluation of marked edema and jaundice. Serum total bilirubin was elevated above 20 mg/dl. The liver biopsy under laparoscopy revealed marked sinusoidal dilatation and retention of red blood cells, which was consistent with a diagnosis of peliosis hepatis. Cardiac catheterization revealed right ventricular filling disturbance without specific findings on endomyocardial biopsy, suggesting idiopathic restrictive cardiomyopathy. The level of serum total bilirubin decreased in association with improvement of edema after drip infusion of furosemide therapy.

In 1961, 1964 and 1970, Goodwin proposed a somewhat unwield definition of cardiomyopathies, which was subsequently shortened to "Heart muscle disease of unknown cause" and separated from heart muscle diseases due to conditions involving organs other than the heart: the "specific heart muscle diseases". The cardiomyopathies thus defined were divided into hypertrophic, dilated and restrictive types and their classification was confirmed by the WHO/ISFC Task Force and the report of the WHO Expert Committee on cardiomyopathies in 1984. The cardiomyopathies are now classified by the dominant pathophysiology or where possible by aetiological/pathogenic factors. The modifications proposed by Dr Peter Richardson are timely and reflect revised ways of looking at problems that still face us. They are classified as dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, and arrhythmogenic right ventricular cardiomyopathy. Unclassified cardiomyopathies include a few cases that do not fit readily with any group. The term specific cardiomyopathies is now used to describe heart muscle diseases which are associated with specific cardiac or systemic disorders.

Isolated noncompaction of the left ventricular myocardium (INVM) is characterized by the presence of numerous prominent trabeculations and deep intertrabecular recesses within the left ventricle, sometimes also affecting the right ventricle and interventricular septum. Familial occurrence of this disorder was described previously. We present a family in which 6 affected individuals demonstrated X-linked recessive inheritance of this trait. Affected relatives presented postnatally with left ventricular failure and arrhythmias, associated with the pathognomonic echocardiographic findings of INVM. The usual findings of Barth syndrome (neutropenia, growth retardation, elevated urinary organic acids, low carnitine levels, and mitochondrial abnormalities) were either absent or found inconsistently. Fetal echocardiograms obtained between 24-30 weeks of gestation in 3 of the affected males showed a dilated left ventricle in one heart, but were not otherwise diagnostic of INVM in any of the cases. Four of the affected individuals died during infancy, one is in cardiac failure at age 8 months, and one is alive following cardiac transplant at age 9 months. The hearts from infants who died or underwent transplantation appeared, on gross examination, to be enlarged, with coarse, deep ventricular trabeculations and prominent endocardial fibroelastosis. Histologically, there were loosely organized fascicles of myocytes in subepicardial and midmyocardial zones of both ventricles, and the myocytes showed thin, often angulated fibers with prominent central clearing and reduced numbers of filaments. Markedly elongated mitochondria were present in some ventricular myocytes from one specimen, but this finding was not reproducible. Genetic linkage analysis has localized INVM to the Xq28 region, where other myopathies with cardiac involvement have been located.

In a 71-year-old woman with macroglossia and heart failure, a monoclonal protein (kappa-light chains) was found in the serum. Congestive heart failure was diagnosed on the basis of heart catheterization and echocardiography. The tongue biopsy showed numerous amyloid fibrils, and plasmacytosis was present in the bone marrow. All these findings indicated a restrictive cardiomyopathy as part of a primary systemic amyloidosis.

Background: Hibernating myocardium has traditionally been characterized in terms of systolic dysfunction., Methods: We describe a case in which a 75-year-old patient with significant coronary artery disease was operated upon for classic constrictive pericarditis., Results: At sternotomy, there was no evidence of pericarditis, but marked diastolic without systolic dysfunction remained. After successful coronary revascularization, the patient immediately exhibited dramatic improvement of diastolic performance. Ex vivo evaluation of myocardial contractile function revealed normal myocardial adrenergic responsiveness, indicating a reversible impairment of contractility., Conclusion: Diastolic hibernation may therefore represent a unique form of surgically correctable restrictive cardiomyopathy.

A previously unreported case of small-vessel myocardial vasculitis presenting as restrictive cardiomyopathy and congestive heart failure is described. The hemodynamic study, showing severely increased and equalized diastolic pressures in atrial and ventricular chambers, and cardiac MRI, showing normal pericardium and ventricular endomyocardial biopsy, not including myocardial vascular component, were insufficient to make a diagnosis. This made a thoracotomy and surgical cardiac biopsy necessary. Steroids and cyclophosphamide, introduced after histologic evidence of necrotizing vasculitis, unassociated with a systemic disease, became available and improved the clinical profile and the diastolic dysfunction at two-dimensional echocardiographic Doppler analysis.

We describe the case of a patient with restrictive cardiomyopathy due to primary amyloidosis associated with aging. The patient had a complex myocardial function. A brief review is made of the etiology, diagnostic procedures and therapy of this clinical entity, which is an important rare cause of cardiac death in elderly patients.

Six children with idiopathic restrictive cardiomyopathy were evaluated. Electrocardiographic evaluation disclosed left atrial dilatation and repolarization abnormalities. Echocardiographic examination showed gross left atrial enlargement (182 +/- 29% of predicted values, P < 0.001) in the presence of normal left ventricular cavity dimensions (99 +/- 6%, P: ns). Left ventricular wall thickness varied from normal to mild concentric hypertrophy (septum: 116 +/- 16%, P < 0.05). Global left ventricular systolic 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 +/- 7 ms. Marked ventricular filling occurred in mid-diastole as could be deduced from a prominent mid-diastolic mitral L wave on the Doppler 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 pressure curve showed a steady decline during mid-diastolic filling. This implies that the driving force for mid-diastolic filling is not the increased left atrial pressure but suction by the ventricle. The restrictive haemodynamics are therefore not caused by increased intrinsic stiffness of the ventricular wall, but most likely result from serious dysfunction and delay of the active relaxation of the ventricle. Progression of the disease was observed in three out of six patients, resulting in death or extreme low cardiac output. The three other patients remained clinically stable during the follow-up period of 6-10 years.

Currently, cardiomyopathies are defined as "heart muscle diseases of unknown etiology". Restrictive cardiomyopathy is the rarest type of this disease, and the only one with no uniformly accepted diagnostic criteria. Its importance lies primarily in properly distinguishing it from constrictive pericarditis because of the direct consequences of mistakenly treating a case of constrictive pericarditis as if it were inoperable. Restrictive cardiomyopathy must be considered within the broader spectrum of diastolic dysfunction. Diagnostic criteria used show a general consensus for the diagnosis of restrictive cardiomyopathy in patients with clinical signs of heart failure in the presence of a nondilated, nonhypertrophic left ventricle with preserved contractility but abnormal diastolic function. Characteristically, right and left ventricular filling pressures are elevated and a dip and plateau diastolic pressure pattern appears. Restrictive cardiomyopathy may be either idiopathic and thus be a true cardiomyopathy in the strict sense of the term or secondary to an infiltrative disease of the myocardium. In this article we review the clinical and hemodynamic features of this disease and the different imaging techniques used in patients to help differentiate restrictive cardiomyopathy from constrictive pericarditis. Finally we study some types of restrictive cardiomyopathies.

Restrictive cardiomyopathy is an unusual form of cardiomyopathy during childhood. Only occasional cases or reduced populations have been reported in international journals. The purpose of this report is to document the clinical, echocardiographic and hemodynamic profile and outcome of restrictive cardiomyopathy in a group of four children (two boys and two girls). The mean age at admission was 3.5 +/- 2.7 years (range 1(3/12) to 7(10/12) years). The diagnosis was made by clinical, echocardiographic and hemodynamic criteria. The main symptoms were bronchial disease (two patients), hepatomegaly and a cardiac murmur. All of the patients had impaired growth and physical development, normal or near-normal Rx cardiothoracic ratio, evidence of congestive heart failure and only one of them showed a cardiac murmur. The most common ECG finding was biatrial enlargement and incomplete right-bundle branch block. The echocardiographic feature was severe biatrial dilatation in the presence of normal ventricular cavity size. Left ventricular shortening was normal and there was diastolic dysfunction. Doppler mitral flow was restrictive, with an E/A ration > 1.5. Marked elevation of left ventricular end-diastolic pressure was noted in cardiac catheterization (x = 32 +/- 7 mmHg). Right ventricular end-diastolic pressure was elevated, but less than the left side (x = 19 +/- 12 mmHg). The outcome was very poor. Two patients died, one remains with heart failure NYHA II and the other with heart failure NYHA IV. We conclude that restrictive cardiomyopathy during childhood may simulate a bronchial or liver disease, so we must bear this in mind in order to make the differential diagnosis. Because of the poor prognosis and lack of specific treatment, the best therapeutic option may be heart transplantation.

6 hours after the second dose (5 mg) of enalapril 9 males and 6 females (mean age 34.93 +/- 1.03 years) with endomyocardial fibrosis (EMF) underwent ECG and pulsed Doppler echocardiography to study enalapril effect on cardiohemodynamics. As shown by ventricular diastolic function and systolic flow in the pulmonary artery with estimation of mean pressure in the pulmonary artery according to Kitabatake, enalapril (renitek) affects positively cardiohemodynamics of EMF patients: improvement of ventricular diastolic function occurred in line with a significant fall in the pulmonary artery pressure. It is noted that application of Doppler echocardiography is essential for detection of restriction syndrome.

Background: Although resting hemodynamics after pediatric heart transplantation are generally within normal limits, we hypothesized that occult restrictive hemodynamics suggesting diastolic dysfunction may be unmasked by acute volume loading (fluid challenge) during cardiac catheterization. We wished to determine the incidence of diastolic dysfunction and to assess whether it progressed over time., Methods: From 1988 through 1993, a total of 100 fluid challenges were performed at the time of surveillance endomyocardial biopsy in 31 survivors of orthotopic heart transplantation. Cyclosporine-based immunosuppression was used in 16 patients, and FK506 was used in 15 patients. Right heart hemodynamics and cardiac output (thermodilution) were obtained at baseline and after a fluid challenge with 10 ml/kg of normal saline solution. The data were analyzed to determine whether type of immunosuppression or time elapsed since transplantation predicted the response to fluid challenge., Results: Baseline hemodynamics were normal; however, a marked increase in atrial filling pressures occurred after fluid challenge (p < 0.001). Findings were similar in cyclosporine- and FK506-treated patients. Hemodynamic response to fluid challenge was not related to duration of time since transplantation, including studies on patients surviving more than 4 years., Conclusions: Diastolic dysfunction after heart transplantation is common; however, the abnormalities do not progress in severity, suggesting stable long-term graft function.

The cardiomyopathies are usually classified as dilated, hypertrophic, or restrictive. Although clinical presentations vary among these myopathies, systolic or diastolic dysfunction characterizes the principal pathophysiologic features of each. Advances in genetic linkage analysis and mutation screening have recently allowed investigators to establish a genetic basis for several forms of dilated and hypertrophic cardiomyopathy. Although traditional treatment modalities and newer strategies (such as atrioventricular pacing in patients with dilated cardiomyopathy and pacing or amiodarone therapy for patients with hypertrophic cardiomyopathy) may provide short-term relief, cardiac transplantation may be the only intervention that can alter the natural history and poor prognosis for these potentially lethal conditions. Myocarditis, which usually presents as an acute form of dilated cardiomyopathy, may have a broad spectrum of presentation and is currently treated with nonspecific supportive measures. Although the polymerase chain reaction may provide rapid diagnosis of viral etiologies, newer therapies have not yet been developed. Clinical trials with intravenous immunoglobulin, however, are currently in progress. In patients whose symptoms do not resolve, cardiac transplantation may afford the only potential for long-term survival.

This report provides an overview of current concepts on the cardiomyopathies. They constitute a heterogeneous group of diseases with complex interrelations between clinical manifestations, pathophysiology and therapy. Special emphasis was made to review new advances on the diagnosis and current management of patients with hypertrophic cardiomyopathy. The link between the classical knowledge and recent--still evolving--ideas is addressed to provide the--state of the art--concerning the implications on the clinical decision making process. Controversial issues such as diagnostic criteria, prognostic features and implications of electrocardiographic and echocardiographic data are revisited in brief. Data suggesting the value of dual chamber pacing as a means to relieve outflow tract obstruction and to improve symptoms in patients with hypertrophic cardiomyopathy are discussed. The molecular basis of this entity together with the characterization of the responsible genetic mutations are reviewed in detail.

History and Findings: A Vietnamese woman, now 68 years old, had for ten years been known to have a monoclonal lambda light-chain gammopathy. Two years before the present admission her resting ECG had shown absent R waves in V2 to V4, first-degree A-V block and preterminal negative T waves. Results of left heart catheterization and echocardiography were essentially normal. Gradually increasing dyspnoea over the preceding 9 months, recently even at rest, and a poor general state with clinical signs of heart failure led to her hospital admission., Tests: Laboratory tests confirmed the known gammopathy without evidence of plasmacytoma. An echocardiogram now demonstrated a moderately enlarged left atrium and hypertrophied left ventricular wall, as well as restrictive function with an increased ratio of early to late diastolic filling velocity and shortened deceleration time. Myocardial echogenicity was increased. Rectal biopsy showed numerous interstitial and paravascular amyloid fibrillae. All these findings indicated restrictive cardiomyopathy as part of primary systemic amyloidosis., Treatment and Course: After treatment with frusemide (80 mg twice daily) and pacemaker implantation she was discharged, her cardiac status now in NYHA class III. Neither chemotherapy nor cardiac transplantation is contemplated.

Objective: To describe the clinical course and outcome of children with idiopathic restrictive cardiomyopathy (IRCM) and to present the Doppler echocardiographic features of this disease in childhood., Design: We reviewed the Mayo Clinic patient database for the period from 1975 to 1993 to identify children who underwent assessment for IRCM., Material and Methods: Clinical records and diagnostic studies, including two-dimensional (2-D), M-mode, and Doppler echocardiograms, were reviewed for each patient. Characteristics were analyzed statistically to determine potential predictors of outcome., Results: Eight children (five girls and three boys) were diagnosed with IRCM between 1975 and 1993 at our institution. The median age at diagnosis was 11 years, and the median duration of follow-up was 11.5 years. Of the eight patients, five died (the median time from initial examination to death was 1 year). All five of these patients had clinical and radiographic evidence of pulmonary venous congestion. In all patients, 2-D and M-mode echocardiography revealed atrial enlargement without ventricular dilatation or hypertrophy. The four patients who underwent detailed diastolic Doppler assessment had findings consistent with restrictive filling and increased left ventricular end-diastolic pressure: (1) short mitral deceleration time, (2) increased pulmonary vein atrial reversal velocity and duration, and (3) pulmonary vein atrial reversal duration greater than mitral A-wave duration., Conclusion: The prognosis for children with IRCM is poor. In this small group of patients, absence of pulmonary venous congestion most consistently predicted extended survival. A combined 2-D and Doppler echocardiographic examination provides a reliable noninvasive means of assessing the physiologic and morphologic features of IRCM in children.

Four children, three males and one female, aged 1.5 months to 11 years, with restrictive cardiomyopathy are described. One had patent ductus arteriosus in association. Hepatomegaly, abnormal second heart sound and signs of pulmonary venous congestion in chest X-ray were the most consistent clinical findings. Diagnosis was based on echocardiographic findings, cardiac catheterization data and results of pathology. The most frequent echocardiographic sign was the enlargement of both atria but with the ventricles within normal size and normal systolic function. Abnormalities in second phase of the ventricular filling were recorded in 2D-echo Doppler and cardiac catheterization, where a dip and plateau morphology of ventricular tracings was recorded. Metabolic studies performed in two children were normal, and any child had hypereosinophilia. Two children died, one was lost for follow-up and another is asymptomatic. Remarks on medical and surgical management are made.

We report a case of recurrent transudative pleural effusion. The initial cardiovascular investigations failed to determine its cause. The catheterization showed a "dip-plateau" suggesting a restrictive cardiomyopathy. Endomyocardial biopsy finally proved a cardiac amyloidosis.

Two cases of cardiomyopathy were studied by echocardiography, endomyocardial biopsy carried out during cardiac catheterization and magnetic resonance imaging. In accordance with echocardiogram, magnetic resonance imaging showed global thickening of the free and septal wall in the first case and apical thickening in the second case. The alteration of the tissue component described by magnetic resonance imaging is in agreement with the histologic description of endomyocardial biopsy. Magnetic resonance imaging is a useful method for the diagnosis of cardiomyopathy.

Restrictive cardiomyopathy has always been a fairly common cause of cardiac death in the tropics through endomyocardial fibrosis. In temperate climates, amyloidosis is the most common form of the disease, whereas Löffler's endocarditis is quite rare. Amyloidosis is more frequently encountered as the population ages, but restrictive cardiomyopathy is still rare outside the tropics. Differentiation between cardiac restriction and constriction is still the major clinical consideration as treatment for constrictive pericarditis is easily administered.

The differentiation between constrictive pericarditis and restrictive cardiomyopathy remains a difficult problem for clinical cardiologists. Recent advances in imaging techniques and the understanding of diastolic function have created a new diagnostic approach to this problem. In this article we will summarize the recent advances in the understanding of the pathophysiology of both disorders and how this is reflected mainly in the use of flow imaging techniques, such as Doppler echocardiography and radionuclide angiography. Combined with the advances in the radiological imaging of the pericardium by means of computed tomography and magnetic resonance imaging, an integrated approach to the differential diagnostic problem is proposed and an algorithm for clinical use has been designed.

Restrictive cardiomyopathy from amyloid deposition within the myocardium is a well-described complication of multiple myeloma; however, myelomatous involvement of pericardium with subsequent cardiac tamponade has rarely been described. Optimal treatment for malignant involvement of the pericardium by myeloma cells has yet to be established. The following description is of a patient with myocardial and pericardial manifestations of multiple myeloma. Treatment of the malignant pericardial effusion was implemented with intrapericardial administration of bleomycin. This therapy resulted in no recurrence of pericardial effusion at nine days follow-up. Despite the absence of detectable recurrent effusion, the patient died suddenly from causes felt unrelated to pericardial disease.

The clinical profile and outcome of idiopathic restrictive cardiomyopathy in a group of eight children are reviewed. There were six girls and two boys. Age at presentation was 4.0 +/- 2.6 years (range 1.3 to 9.5 years). All patients had evidence of congestive heart failure with systemic venous congestion. Right or left atrial enlargement was the most consistent ECG finding and was present in all patients. Left ventricular shortening fraction was normal in five patients, increased in two, and mildly reduced in one. The most striking echocardiographic feature was severe biatrial dilatation in the presence of normal or near-normal ventricular cavity dimensions. Marked elevation of left ventricular end-diastolic pressure was noted in all seven patients undergoing cardiac catheterization (34 +/- 7 torr; range 24 to 40 torr). Right ventricular end-diastolic pressure was elevated but significantly different from left ventricular pressure (18 +/- 7 torr; p less than 0.01). A characteristic early diastolic dip with a rapid rise to an elevated plateau (square root sign) was present in five of seven patients. Median survival was 1.4 years. Six patients died 0.2 to 7.0 years after they were initially seen. The actuarial survival rate 1.5 years after presentation was 44%, decreasing to 29% at 4 years. Restrictive cardiomyopathy has a worse prognosis in children than in adults. In part this may reflect the more advanced symptoms of congestive failure at initial presentation. Pediatric patients should be considered for early cardiac transplantation.

Thymic cysts are rare and almost always asymptomatic. The authors report the case of a 45 year old woman with a thymic cyst diagnosed after recurrent right sided heart failure resulting in signs suggestive of adiastole, regressing after "pleural" (mainly cystic) aspiration and diuretic therapy without any morphological or functional changes on Doppler echocardiography. This report concerns a rare tumour, with an exceptional volume (2 litres) extending down the cardiac borders and causing cardiac compression. It illustrates the diagnostic difficulty of a pathology with an unusual clinical presentation, despite complementary investigations including CT scan and MRI, very sensitive in this type of problem. A complete cure was obtained by total surgical ablation.

Twenty-nine patients who were referred with the possible diagnosis of constrictive pericarditis underwent electrocardiographically gated transverse spin-echo magnetic resonance (MR) imaging to determine the accuracy of spin-echo MR imaging for the diagnosis of constrictive pericarditis and to compare the morphologic features of constrictive pericarditis with those of restrictive cardiomyopathy as seen on spin-echo MR images. Constrictive pericarditis was verified by means of surgery and/or catheterization in 17 patients. The sensitivity, specificity, and accuracy of MR imaging in the diagnosis of constrictive pericarditis were 88%, 100%, and 93%, respectively. Thickened pericardium was observed in 88% of patients with proved constrictive pericarditis. Pericardial thickening was not identified in patients with restrictive myocarditis (n = 4). The most frequent site of pericardial thickening was over the right ventricle. In constrictive pericarditis, the signal intensity of the thickened pericardium was similar or decreased compared with that of the myocardium. Indirect findings of impaired right ventricular diastolic filling (eg, dilatation of the inferior vena cava and right atrium) were identified in constrictive pericarditis and restrictive cardiomyopathy. MR imaging can serve as a noninvasive examination for the definitive diagnosis of constrictive pericarditis and can help distinguish between constrictive pericarditis and restrictive cardiomyopathy on the basis of pericardial thickness.

The topic of restrictive cardiomyopathy remains controversial for many reasons. The term cardiomyopathy is unfortunately sometimes used interchangeably with diastolic heart failure. Furthermore, diastolic heart failure is sometimes linked with other causes of diastolic dysfunction such as hypertrophic cardiomyopathy and mitral valve disease. Restrictive cardiomyopathy is a clinical entity of primary or secondary myocardial disease presenting a picture that closely simulates that of constrictive pericarditis. In the majority of cases the correct diagnosis can be arrived at following a careful paradigm that begins with history and may end with endomyocardial biopsy. Many of the old teachings about how to distinguish restrictive cardiomyopathy from constrictive pericarditis have not held up with time and clinical experience: in particular equal diastolic pressures on both sides of the heart are compatible with either restrictive cardiomyopathy or constrictive pericarditis.

Cardiomyopathies are an important cause of congestive heart failure in the elderly, and the magnitude of the problem is compounded by changing population demographics and the frequency of congestive heart failure in the elderly. Although the data are far from complete, differences in the clinical presentations and natural history of the cardiomyopathies in older and younger patients are becoming more clearly appreciated. Dilated cardiomyopathy (DCM) is clearly more common than previously appreciated, and elderly patients have a worse prognosis than their younger counterparts with this disease. The medical management of DCM is often more difficult in the elderly, and the problem is compounded by the relatively infrequent use of cardiac transplantation as a therapeutic option. Hypertrophic cardiomyopathy is also more common than previously appreciated, and changes in left ventricular structure often create difficulties in differentiating pathologic states from physiologic. Fortunately, the prognosis for HOCM is more favorable in the elderly than in younger patients and may be partly accounted for by the different structure of the left ventricle. If needed, surgery is an option for elderly patients with medically refractory HOCM, but particular attention must be paid to the presence and severity of associated cardiovascular disease. Restrictive cardiomyopathy with diastolic dysfunction is increasingly recognized as a cause of congestive heart failure. The differentiation from systolic dysfunction is crucial, because the treatments are so markedly different. Age-related changes in diastolic function are becoming more apparent and better characterized, but standardization of age-related "normal" values is still not available. The diagnosis of restrictive heart disease should stimulate a search for an underlying cause, inasmuch as restrictive cardiomyopathy remains a diagnosis of exclusion. Advances in noninvasive imaging have led to a resurgence of interest and have enhanced our knowledge of the cardiomyopathies. Further investigation should proceed in conjunction with studies aimed at defining the characteristics and variables of "normal" aging. For the present, the enigmatic, poorly identified "cardiomyopathies" remain a problem for both young and old.