Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Amyloidosis is a pathology caused by tissue deposition of amyloid, a compound composed of insoluble fibrillar proteins. AL-amyloidosis (primary amyloidosis) most frequently leads to cardiac disorders 50% of which are cases of chronic heart failure (CCF). The study was dictated by the rarity of this pathology among other causes of CCF, its severity, and poor prognosis in the absence of specific therapy. Cardiohemodynamics (CHD) and clinical course of CCF were examined in 12 patients with cardiac amyloidosis (CA) and clinical manifestations of CCF. All the patients died during the study period. The diagnosis was verified at autopsy in 5 patients, by gingival, rectal or pleural biopsy in 4, and from combination of clinical and instrumental findings in the remaining three. The longevity since the onset of CCF was 28 +/- 8.8 and 5.9 +/- 3.8 months in patients under and above 70 respectively. 83.3% of the patients with CA had suffered renal disorders (proteinuria, nephrotic syndrome, insufficiency) and loss of weight before they developed CCF. CCF concurrent with CA was characterized by severely disturbed systemic hemodynamics and refractivity to standard therapy. Cardiac disorders were dominated by changes in myocardium due to the substantial thickening of its walls. The weight of left ventricular myocardium was 358. 77 +/- 58.08g (by echoCG) and the total heart weight 552 +/- 98.4g (at autopsy). Patients with CCF and CA had CHD changes suggesting restrictive cardiomyopathy in 83.3% of the cases and dilatational cardiomyopathy in 16.7%.
 ...
PMID:[Chronic heart failure in patients with cardiac amyloidosis]. 1946 51

Restrictive cardiomyopathies constitute a heterogenous group of heart muscle conditions that all have, in common, the symptoms of heart failure. Diastolic dysfunction with preserved systolic function is often the only echocardiographic abnormality that may be noted, although systolic dysfunction may also be an integral part of some specific pathologies, particularly in the most advanced cases such as amyloid infiltration of the heart. By far, the majority of restrictive cardiomyopathies are secondary to a systemic disorder such as amyloidosis, sarcoidosis, scleroderma, haemochromatosis, eosinophilic heart disease, or as a result of radiation treatment. The much more rare diagnosis of idiopathic restrictive cardiomyopathy is supported only by the absence of specific pathology on either endomyocardial biopsies or at post-mortem. Restrictive cardiomyopathy is diagnosed based on medical history, physical examination, and tests: such as blood tests, electrocardiogram, chest X-ray, echocardiography, and magnetic resonance imaging. With its wide availability, echocardiography is probably the most important investigation to identify the left ventricular dysfunction and should be performed early and by groups that are familiar with the wide variety of aetiologies. Finally, on rare occasions, the differential diagnosis from constrictive pericarditis may be necessary.
 ...
PMID:Restrictive cardiomyopathies. 1988 55

A 3-year-old girl was diagnosed with restrictive cardiomyopathy (RCM) after showing symptoms of heart failure, and a 6-year-old boy was found to have RCM after abnormal electrocardiographic findings were seen during school-based heart disease screening. Both had typical clinical features of the disease. Plasma levels of brain natriuretic peptide increased significantly in both patients, allowing us to distinguish this disease from constrictive pericarditis which has similar clinical and hemodynamic features. The early diastolic mitral annular velocity recorded by tissue Doppler echocardiography was also useful to discriminate RCM from constrictive pericarditis. The former case successfully received heart transplantation, but the latter case died suddenly prior to receiving a heart transplant. The plasma level of brain natriuretic peptide and tissue Doppler echocardiography helped us to diagnose this disease earlier and follow it more carefully, which has important implications in optimal treatment and improved prognosis of RCM in children.
 ...
PMID:Two cases of restrictive cardiomyopathy in children. 2003 98

Cardiac diseases associated with mutations in troponin subunits include hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and restrictive cardiomyopathy (RCM). Altered calcium handling in these diseases is evidenced by changes in the Ca(2+) sensitivity of contraction. Mutations in the Ca(2+) sensor, troponin C (TnC), were generated to increase/decrease the Ca(2+) sensitivity of cardiac skinned fibers to create the characteristic effects of DCM, HCM, and RCM. We also used a reconstituted assay to determine the mutation effects on ATPase activation and inhibition. One mutant (A23Q) was found with HCM-like properties (increased Ca(2+) sensitivity of force and normal levels of ATPase inhibition). Three mutants (S37G, V44Q, and L48Q) were identified with RCM-like properties (a large increase in Ca(2+) sensitivity, partial loss of ATPase inhibition, and increased basal force). Two mutations were identified (E40A and I61Q) with DCM properties (decreased Ca(2+) sensitivity, maximal force recovery, and activation of the ATPase at high [Ca(2+)]). Steady-state fluorescence was utilized to assess Ca(2+) affinity in isolated cardiac (c)TnCs containing F27W and did not necessarily mirror the fiber Ca(2+) sensitivity. Circular dichroism of mutant cTnCs revealed a trend where increased alpha-helical content correlated with increased Ca(2+) sensitivity in skinned fibers and vice versa. The main findings from this study were as follows: 1) cTnC mutants demonstrated distinct functional phenotypes reminiscent of bona fide HCM, RCM, and DCM mutations; 2) a region in cTnC associated with increased Ca(2+) sensitivity in skinned fibers was identified; and 3) the F27W reporter mutation affected Ca(2+) sensitivity, maximal force, and ATPase activation of some mutants.
 ...
PMID:Predicting cardiomyopathic phenotypes by altering Ca2+ affinity of cardiac troponin C. 2056 45

Cardiomyopathies are myocardial diseases in which there is structural and functional disorder of the heart muscle, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease. Cardiomyopathies are grouped into specific morphological and functional phenotypes: dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy and unclassified cardiomyopathies. Patients with dilated and hypertrophic cardiomypathy are prone to the development of congestive heart failure in the perioperative period. Also, patients with hypertrophic and arrhythmogenic right ventricular cardiomyopathy are prone to arrhythmias in the perioperative period. Preoperative evaluation includes history, physical examination, ECG, chest radiography, complete blood count, electrolytes, creatinine, glomerular filtration rate, glucose, liver enzymes, urin analysis, BNP and echocardiographic evaluation of left ventricular function. Drug therapy should be optimized and continued preoperatively. Surgery should be delayed (unless urgent) in patients with decompensated or untreated cardiomyopathy. Preoperative evaluation requires integrated multidisciplinary approach of anesthesiologists, cardiologist and surgeons.
 ...
PMID:Preoperative preparation of patients with cardiomyopathies in non-cardiac surgery. 2187 49

Nowadays, we have a better understanding of the natural history of constrictive pericarditis such as transient constriction. In addition, we have acquired the correct understanding of hemodynamic features that are unique to constrictive pericarditis. This understanding has allowed us to diagnose constrictive pericarditis reliably with Doppler echocardiography and differentiation between constrictive pericarditis and restrictive cardiomyopathy is no longer a clinical challenge. The advent of imaging modalities such as CT or MR is another advance in the diagnosis of constrictive pericarditis. We can accurately measure pericardial thickness and additional information such as the status of coronary artery and the presence of myocardial fibrosis can be obtained. We no longer perform cardiac catheterization for the diagnosis of constrictive pericarditis. However, these advances are useless unless we suspect and undergo work-up for constrictive pericarditis. In constrictive pericarditis, the most important diagnostic tool is clinical suspicion. In a patient with signs and symptoms of increased systemic venous pressure i.e. right sided heart failure, that are disproportionate to pulmonary or left sided heart disease, possibility of constrictive pericarditis should always be included in the differential diagnosis.
 ...
PMID:Constrictive Pericarditis as a Never Ending Story: What's New? 2249 8

Heart involvement by amyloid deposition remains the most challenging of all organ sytems that may become involved, in what is generally a systemic disease. The correct diagnosis of amyloid type is critical to selection of the appropriate and wide range of therapies. The treatment of amyloid heart disease comprises two strategies: conventional management of a restrictive cardiomyopathy, and varied therapies aimed at the underlying amyloidogenic process. In light chain (AL) amyloidosis, many of the most efficacious therapies involve chemotherapeutic agents with their own inherent toxicities to the heart and bone marrow. In the case of the hereditary amyloidosis, major surgery in the form of liver transplantation is usually required. Moreover, consideration should be given to screening of family members for a potentially hereditary disease. Several types of amyloidosis may require one or more, of heart, liver and/or kidney transplantation, sometimes in addition to high-dose chemotherapy. The objective is to provide a schematic overview of available therapies in the management of AL, hereditary, senile systemic, isolated atrial and secondary forms of amyloidosis.
 ...
PMID:Amyloid heart disease: a brief review of treatment options. 2274 80

This study was performed to determine the relative role of cardiac magnetic resonance (CMR) imaging and endomyocardial biopsy (EMB) in the evaluation of cardiomyopathy. Sixty-six patients with a clinical diagnosis of nonischemic dilated cardiomyopathy or restrictive cardiomyopathy underwent both EMB and CMR imaging as part of their diagnostic evaluation. The authors retrospectively reviewed the results of these two methods to determine their diagnostic impact and congruency. CMR imaging provided data on cardiac anatomy, left ventricular volumes, mass, and function in 85% of the patients, uncovered fibrosis in 31%, myocardial ischemia in 7%, and fibrofatty infiltration in two patients. EMB provided the histologic findings of cardiomyocyte hypertrophy in 77% of patients and substantial interstitial fibrosis in 59%. Six patients had EMB-proven amyloid heart disease, which was detected by CMR imaging in two. CMR imaging showed patterns of late gadolinium enhancement supportive of infiltrative disease or inflammation in 6 patients with EMB-proven definite (n=3) or borderline (n=3) myocarditis, but failed to do so in two other patients with borderline and two with resolving myocarditis. At the present time, CMR imaging and EMB remain complementary procedures in the evaluation of cardiomyopathic conditions.
 ...
PMID:Relationship of cardiac magnetic resonance imaging and myocardial biopsy in the evaluation of nonischemic cardiomyopathy. 2296 32

Cardiac amyloidosis results in severely symptomatic heart failure that has a poor prognosis because of the development of a restrictive cardiomyopathy. The diagnosis of cardiac amyloidosis is often delayed because of nonspecific signs and symptoms. We report the case of a 66-year-old woman who had been diagnosed with sick sinus syndrome and presented 5 months later with a long QT interval and recurrent polymorphic ventricular tachycardia. The diagnosis of cardiac amyloidosis was confirmed upon analysis of endomyocardial biopsy results. The patient was subsequently diagnosed with and treated for underlying plasma cell myeloma and later died of cardiac arrest. This atypical presentation of cardiac amyloidosis underscores the need to consider it in the differential diagnosis of patients who have ventricular arrhythmias. To our knowledge, the combination of long QT interval and polymorphic ventricular tachycardia has not been previously reported in association with amyloid heart disease.
 ...
PMID:Cardiac amyloidosis presenting with prolonged QT interval and recurrent polymorphic ventricular tachycardia. 2367 21

Constrictive pericarditis is a rare heart disease. The diagnosis remains a challenge. In fact, this illness can mimic restrictive cardiomyopathy. Echo-Doppler evaluation helps to establish the diagnosis of constriction; however, this technique is limited in its ability to image the entire pericardium because of its limited acoustic windows by air or bone of thorax. In addition, it is an operator-dependent exploration. Scanner and magnetic resonance imaging provide a large field of view and excellent images, showing the increased pericardial thickness and septal motion abnormalities. This review will consider the emerging role of these imaging modalities in the constrictive pericarditis diagnosis.
 ...
PMID:[The role of multimodality imaging in the diagnosis of constrictive pericarditis]. 2421 Aug 9


<< Previous 1 2 3 4 5 6 7 8 Next >>