SEARCH · Search PubMed
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
Endomyocardial fibrosis is a restrictive cardiomyopathy, of unknown etiology, which occurs most commonly in tropical and subtropical areas. Typical clinical aspect of the disease shows striking ascites, regardless of which ventricle is involved, contrasting with little or no peripheral edema.
A 33-year-old male with idiopathic restrictive cardiomyopathy had dilated and tortuous veins over both lower limbs and over the scrotum with multiple hyperpigmented scars. He was in the habit of puncturing the veins to let out blood during episodes of worsening of dyspnoea, thereby relieving dyspnoea by decreasing the preload.
Cardiac involvement is a significant cause of morbidity and mortality in patients with amyloidosis. A 73-year old Caucasian woman was admitted to a hospital with increasing dyspnoea. Examination revealed a large left-sided pleural effusion, gross peripheral oedema and a pan-systolic murmur. The electrocardiogram showed low voltage QRS complexes with lateral T wave inversion. Recent angiography had demonstrated normal coronaries. Echocardiography revealed left ventricular hypertrophy and an ejection fraction of 43%. There was a restrictive filling pattern with elevated left-sided filling pressures, left atrial enlargement and mild mitral regurgitation. The right heart was normal with normal filling pressures. The patient was referred for cardiovascular magnetic resonance imaging for investigation of restrictive cardiomyopathy. This case provides a striking demonstration of the characteristic features of cardiac amyloidosis by cardiovascular magnetic resonance imaging - impaired biventricular systolic function, thickened atrioventricular valves, bi-atrial enlargement, increased atrial septal thickness and left ventricular mass, pleural and pericardial effusions, and the most impressive finding of widespread subendocardial hyperenhancement of both ventricles, as well as the inter-atrial and inter-ventricular septa, representing infiltration with amyloid protein. Cardiac involvement with systemic amyloidosis was suspected and confirmed on biopsy. Cardiovascular magnetic resonance imaging should be considered early in the diagnostic work-up of suspected cardiac amyloidosis.
Hemochromatosis is a hereditary iron overload syndrome characterized by increased iron storage, followed by liver cirrhosis and is often associated with restrictive cardiomyopathy. The purpose of this study was to detect alterations of cardiac high-energy phosphate metabolism in patients with hereditary hemochromatosis (HHC) prior to the development of structural heart diseases. Therefore cardiac phosphorus-31 two-dimensional chemical shift imaging ((31)P 2D CSI) was employed. Twenty-four male patients (mean age 47.2 +/- 12 years) homozygous for the C282Y mutation in the hemochromatosis associated HFE gene and twenty-four male healthy volunteers (mean age 47 +/- 11 years) as age-matched controls were included in this study. Using a 1.5-Tesla whole-body magnetic resonance scanner, electrocardiograph-triggered transversal 31P 2D CSI was performed. Left ventricle mean phosphocreatine (PCr) to beta-adenosine triphosphate (beta-ATP) ratios of patients with HHC (1.60 +/- 0.41) were significantly decreased in comparison to healthy volunteers (1.93 +/- 0.36; p = 0.004). Furthermore, we detected moderate, negative correlations between left ventricular PCr to beta-ATP ratios and transferrin saturation, cholesterol, low-density lipoprotein as well as triglyceride. This study shows that 31P 2D CSI permits the detection of alterations of cardiac high-energy phosphate metabolism in patients with HHC, but without any evidence for heart disease. The decreased PCr to beta-ATP ratios in HHC might be caused by mitochondrial impairment due to cardiac iron overload.
Troponin is the regulatory complex of the myofibrillar thin filament that plays a critical role in regulating excitation-contraction coupling in the heart. Troponin is composed of three distinct gene products: troponin C (cTnC), the 18-kD Ca(2+)-binding subunit; troponin I (cTnI), the approximately 23-kD inhibitory subunit that prevents contraction in the absence of Ca2+ binding to cTnC; and troponin T (cTnT), the approximately 35-kD subunit that attaches troponin to tropomyosin (Tm) and to the myofibrillar thin filament. Over the past 45 years, extensive biochemical, biophysical, and structural studies have helped to elucidate the molecular basis of troponin function and thin filament activation in the heart. At the onset of systole, Ca2+ binds to the N-terminal Ca2+ binding site of cTnC initiating a conformational change in cTnC, which catalyzes protein-protein associations activating the myofibrillar thin filament. Thin filament activation in turn facilitates crossbridge cycling, myofibrillar activation, and contraction of the heart. The intrinsic length-tension properties of cardiac myocytes as well as the Frank-Starling properties of the intact heart are mediated primarily through Ca(2+)-responsive thin filament activation. cTnC, cTnI, and cTnT are encoded by distinct single-copy genes in the human genome, each of which is expressed in a unique cardiac-restricted developmentally regulated fashion. Elucidation of the transcriptional programs that regulate troponin transcription and gene expression has provided insights into the molecular mechanisms that regulate and coordinate cardiac myocyte differentiation and provided unanticipated insights into the pathogenesis of cardiac hypertrophy. Autosomal dominant mutations in cTnI and cTnT have been identified and are associated with familial hypertrophic and restrictive cardiomyopathies.
PURPOSE: The abdominojugular reflux sign is useful in diagnosing right ventricular failure, but is often performed and interpreted incorrectly. Our objective was to review the history, epidemiology, and pathophysiology of the abdominojugular reflux sign. METHODS: We conducted a MEDLINE search of the English language reports published between 1966 and 1999 and a manual search of bibliographies of relevant papers. RESULTS: A positive abdominojugular reflux sign is defined by an increase in the jugular venous pressure of greater than 3 cm, sustained for greater than 15 seconds. In the absence of left heart failure, a positive abdominojugular reflux sign should prompt consideration of impaired right ventricular preload, a decrease in right ventricular compliance, a decrease in right ventricular systolic function or an elevation in right ventricular afterload. In patients presenting with dyspnea, the abdominojugular reflux is useful in predicting congestive heart failure (LR+ 6.0 (95% CI; 0.8-51); LR- 0.78; (95% CI: 0.62 to 0.98)) and suggests pulmonary capillary wedge pressures of greater than 15 mm Hg (LR+ 6. 7 (95% CI: 3.3 to 13.4); LR- 0.08 (95% CI: 0.01 to 0.52)). CONCLUSION: The abdominojugular reflux is not specific to any one disorder, but rather is a reflection of a right ventricle that cannot accommodate augmented venous return. Constrictive pericarditis, right ventricular infarction, and restrictive cardiomyopathy are common causes of a positive finding. Left ventricular failure may also induce the sign, but only when the pulmonary capillary wedge pressure is greater than 15. The one diagnosis not seen with abdominojugular reflux is cardiac tamponade.
PURPOSE: To report the early ocular findings in hereditary amyloidosis. METHODS: Case report of a visually asymptomatic, 52-year-old Mexican man with systemic manifestations of amyloidosis (peripheral neuropathy, restrictive cardiomyopathy), with a positive family history, and with amyloid on an endomyocardial biopsy specimen, who had bilateral multifocal sheathing or cuffing of the peripheral retinal arterioles. RESULT: An extensive evaluation for retinal vasculitis was discontinued when hereditary amyloidosis was diagnosed. CONCLUSION: Focal retinal periarteriolar plaques of amyloid may be the earliest and only ocular finding of hereditary amyloidosis.
Idiopathic hypereosinophilic syndrome is a rare systemic manifestation of eosinophilia that may cause endocardial fibrosis. Endocardial fibrosis and overlying thrombus typically lead to a restrictive cardiomyopathy and heart failure. Occasionally mitral or tricuspid regurgitation (or both) occurs as a result of the fibrosis and thrombus formation. This report describes a patient with hypereosinophilic syndrome who was seen with an unusually localized form of cardiac involvement that resulted in predominantly aortic and mitral stenosis. This was treated with bivalvular replacement.
Constrictive pericarditis frequently poses a diagnostic challenge because of its varied manifestations. Accurate diagnosis is essential, however, because surgical decortication may yield excellent clinical results. Although new diagnostic procedures have helped the clinician to diagnose constrictive pericarditis, the initial clinical suspicion of this diagnosis must be high for appropriate interpretation of these tests. Echocardiography is useful, primarily for distinguishing various other cardiac abnormalities that may simulate constrictive pericarditis. Computed tomography is a valuable procedure for assessment of pericardial thickening. In addition, evaluation of early diastolic filling by computerized digitization in conjunction with echocardiography, angiography, and invasive hemodynamics shows promise as a diagnostic tool. Even with these new diagnostic aids, distinguishing constrictive pericarditis from restrictive cardiomyopathy may be difficult and, in some cases, may necessitate an exploratory operative procedure.
Desmin myopathy is a rare idiopathic disorder characterized by abnormal aggregates of desmin-type intermediate filaments, which affects cardiac and skeletal muscle, and rarely the intestinal smooth muscle. We report a 42-year-old woman with atrial fibrillation and progressive restrictive cardiomyopathy. Left ventricular biopsy, cardiac explant, and subsequent autopsy study of skeletal muscle revealed cytoplasmic granulo-filamentous inclusions that were continuous with Z-lines and were immunoreactive for desmin filaments both at the light immunohistochemical and electron microscopic level. In addition, we report the presence of characteristic inclusions within the smooth muscle of intramural coronary blood vessels. This is the first description of desmin inclusions within vascular smooth muscle, and underscores the systemic nature of this rare myopathy.
Pericarditis is a common disorder that has multiple causes and presents in various primary-care and secondary-care settings. New diagnostic techniques have improved the sampling and analysis of pericardial fluid and allow comprehensive characterisation of cause. Despite this advance, pericarditis is most commonly idiopathic, and radiation therapy, cardiac surgery, and percutaneous procedures have become important causes. Pericarditis is frequently self-limiting, and non-steroidal anti-inflammatory agents remain the first-line treatment for uncomplicated cases. Integrated use of new imaging methods facilitates accurate detection and management of complications such as pericardial effusion or constriction. Differentiation of constrictive pericarditis from restrictive cardiomyopathy remains a clinical challenge but is facilitated by tissue doppler and colour M-mode echocardiography. Most pericardial effusions can be safely managed with an echo-guided percutaneous approach. Pericardiectomy remains the definitive treatment for constrictive pericarditis and provides symptomatic relief in most cases. In the future, the pericardial space might become a conduit for treatments directed at the pericardium and myocardium.
A patient with Kugelberg-Welander syndrome associated with junctional rhythm and restrictive cardiomyopathy is presented. An electrophysiologic study was performed. Persistent atrial standstill was demonstrated by detailed right atrium and coronary sinus mapping and failure of capture of both right atrium and coronary sinus pacing. A prolonged junctional recovery time, normal HV interval and normal pacing threshold of the right ventricle were also noted. The patient was successfully treated with cardiac pacing and diuretics.
INTRODUCTION: Systemic elastorrhexis or Grönblad-Strandberg-Touraine syndrome is a rare inherited disease characterized by a generalized elastic tissue dysplasia and polymorphic clinical features, with the main tissues affected being cutaneous, ocular and arterial. CURRENT KNOWLEDGE AND KEY POINTS: Usual cardiovascular complications of this entity include ischemic heart disease, renovascular hypertension and atherosclerotic peripheral vascular disease. Some cases of restrictive cardiomyopathies and valvular disease have been reported. Coronary artery disease, often with early onset, is seen in approximately 20% of cases. FUTURE PROSPECTS AND PROJECTS: This review of the literature concerning a rare cause of cardiopathy underlines the need to search for underlying elastorrhexis in the clinical setting of early onset and severe coronary artery disease or arteriopathy, especially in the absence of vascular risk factors. This hereditary disease has been traced to chromosome 16p13.1 and may in the future be easily diagnosed, bypassing the need for cutaneous biopsy.
The purpose of this study was to determine the value of two-dimensional echocardiography in detecting constrictive pericarditis. Serial two-dimensional echocardiography was performed in eight closed chest conscious dogs with experimental constrictive pericarditis, using a new model that creates constrictive pericarditis by the introduction of a pericardial irritant mixture. Constrictive pericarditis was confirmed in these dogs by cardiac catheterization and pathologic examination. Four patients with constrictive pericarditis and three patients with restrictive cardiomyopathy (amyloidosis) were also studied. Analysis of short-axis two-dimensional echocardiograms was performed to determine the frame by frame change in left ventricular cavity areas throughout diastole. Curves of diastolic left ventricular cavity area change versus percent duration of diastole were constructed for each animal and human subject. Pericardial thickness was measured at various gain settings on two-dimensional and M-mode echocardiograms and at post-mortem examination. In dogs with constrictive pericarditis, the echocardiograms seriously overestimated and correlated poorly with pathologic measurements of pericardial thickness. In dogs after constrictive pericarditis developed, 69 +/- 11% (mean +/- SD) (range 50 to 84) of cavity area change occurred in the initial 30% of diastole compared with 35 +/- 7% (range 20 to 45) in control two-dimensional echocardiograms (p less than 0.001). Four patients with constrictive pericarditis showed similar accelerated cavity expansion in early diastole, but three patients with cardiac amyloidosis showed more variable left ventricular diastolic expansion rates. It is concluded that two-dimensional echocardiograms can demonstrate characteristic diastolic filling abnormalities in constrictive pericarditis, but cannot accurately measure pericardial thickness.
Methysergide ( Sansert ) has been associated with numerous fibrotic disorders. In particular, multiple cardiac lesions have been described in cases where methysergide was thought to have played a causative role. A patient is described who presented with cardiac findings suggestive of acute myopericarditis . An inflammatory myocarditis was subsequently excluded by endomyocardial biopsy. Hemodynamic findings suggested the presence of constrictive pericarditis or restrictive cardiomyopathy, or both. Radiographic evidence of constrictive pericarditis and biopsy evidence of endocardial fibrosis were documented in this patient with a long history of interrupted methysergide therapy.
OBJECTIVES: We investigated the expression of atrial natriuretic peptide (ANP) and brain natriuretic peptide (BNP) and their genes in the hearts of patients with cardiac amyloidosis and those with isolated atrial amyloidosis. BACKGROUND: The expression of ANP and BNP is augmented in the ventricles of failing or hypertrophied hearts, or both. The expression of ANP and BNP in the ventricles of hearts with cardiac amyloidosis, which is hemodynamically similar to restrictive cardiomyopathy, is not yet known. ANP is the precursor protein of isolated atrial amyloid. METHODS: We analyzed the immunohistocytochemical localizations of ANP and BNP as well as the expression of their mRNAs by in situ hybridization in the myocardium and measured the plasma levels of ANP and BNP in patients with cardiac amyloidosis. RESULTS: Four of the five right and all six left ventricular endomyocardial biopsy specimens obtained from six patients with cardiac amyloidosis were immunohistochemically positive for both ANP and BNP; none of the biopsy specimens from eight normal subjects were positive for ANP or BNP. All four of the right atria obtained at operation showed positive immunoreactions for both peptides. Electron microscopy identified specific secretory granules in ventricular myocytes of the patients with cardiac amyloidosis, but not in ventricular myocytes from the normal control subjects. Double immunocytochemical analysis revealed the co-localization of ANP and BNP in the same granules and that isolated atrial amyloid fibrils were immunoreactive for ANP and BNP, whereas ventricular amyloid fibrils were negative for both peptides. Both ANP mRNA and BNP mRNA were expressed in the ventricles of the patients with cardiac amyloidosis but not in the normal ventricles. The autopsy study of four patients with cardiac amyloidosis revealed an almost transmural distribution of ANP and BNP, with predominance in the endocardial side. Plasma BNP levels in the patients were markedly elevated ([mean +/- SD] 1,165.1+/-561.2 pg/ml) compared with those in the control subjects (8.9+/-6.0 pg/ml, p < 0.05). CONCLUSIONS: Expression of ANP and BNP and their genes was augmented in the ventricular myocytes of the patients with cardiac amyloidosis. Both regional mechanical stress by amyloid deposits and hemodynamic stress by diastolic dysfunction may be responsible for the expression of the peptides in patients with cardiac amyloidosis.
We report a case of a heart transplantation in a 12-year-old girl 9 years after extensive lung resection and adjuvant chemo- and radiotherapy for intra-thoracic embryonic rhabdomyosarcoma. She had restrictive cardiomyopathy with severe heart failure and chylous ascites. She was treated successfully with orthotopic heart transplantation and her symptoms of chylous ascites subsided gradually after transplantation. Her abdominal girth decreased from 79 cm before the transplant to 53 cm 9 months after the transplant.
BACKGROUND: Hemochromatosis has been associated with atrial tachyarrhythmias and congestive heart failure as a consequence of dilated or restrictive cardiomyopathy. Inducible ventricular fibrillation has not been previously described. METHODS AND RESULTS: An electrophysiologic study was conducted in a woman after two episodes of syncope. Polymorphic ventricular tachycardia (PMVT) and ventricular fibrillation (VF) were induced with ventricular programmed stimulation. Magnetic resonance imaging demonstrated signal loss in the liver consistent with hemochromatosis, but normal cardiac size and function. Hematologic studies supported a diagnosis of hemochromatosis. CONCLUSION: Cardiac hemochromatosis may be associated with serious ventricular arrhythmias.