Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Cardiomyopathy, Restrictive”

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.

At least 523 records · Page 29Linked to original sources
PubMed1998

Small ventricular septal defects in adults.

AIMS: To establish the frequency of complications in adults with small ventricular septal defects, which have not undergone surgery. METHODS AND RESULTS: One hundred and eighty-eight adults aged 17-72 (mean, 29.2) years with a small ventricular septal defect were studied. They were referred to a national cardiac centre (National Heart Hospital) and specialized grown-up congenital heart unit. One hundred and thirty-eight were examined in 1994-95. Fifty patients (26.6%) had additional cardiovascular lesions, most commonly a bicuspid aortic valve and/or coarctation. Spontaneous closure occurred in 19 (10%) between the age of 17 and 45 (mean, 27) years. Twenty-one (11.2%) had infective endocarditis. Aortic regurgitation developed in 37 (19.7%) patients; it was severe in nine. Atrial arrhythmias (supraventricular tachycardia or atrial fibrillation) occurred in 12 patients. In four patients, atrial fibrillation produced severe right-sided congestion with a left ventricular to right atrial shunt and haemodynamic features suggesting 'restrictive cardiomyopathy'. Four patients had ventricular arrhythmia. Disproportionate left ventricular enlargement on echocardiography and/or chest radiography was present in 26 (13.8%) without lesions to account for it. CONCLUSIONS: Eighty nine patients (47%) aged 17-44 (mean, 26.8) years had no complications through many years, while spontaneous closure occurred in 19 (10%) during adulthood. Forty-six (25%) had serious complications: infective endocarditis (11%), progressive aortic regurgitation (5%), age-related symptomatic arrhythmias (8.5%) and atrial fibrillation the commonest. Accepting that there may be a referral bias for those with complications, the course of a small ventricular septal defect is not necessarily benign during adult life.

Adolescent↗
PubMed2002

Usefulness of the transgastric view by transesophageal echocardiography in evaluating thickened pericardium in patients with constrictive pericarditis.

Detection of thickened pericardium in patients with constrictive pericarditis is essential for pericardiectomy because restrictive cardiomyopathy and severe tricuspid regurgitation show similar hemodynamic data. The purpose of this study was to clarify whether transesophageal echocardiography can evaluate thickened pericardium. We investigated 7 patients with constrictive pericarditis who underwent pericardiectomy. Thickened pericardium over the right atrium was detected in 6 patients, but the borders were not clear. Thickened pericardium over the left ventricle was not detected in any patients in the standard longitudinal and horizontal views. On the other hand, thickened pericardium over the ventricles was detected in all patients in the transgastric view as an echogenic area between the liver and ventricular wall. Tissue characteristics of the thickened pericardium could be evaluated because of the high-quality images in the transgastric view. The transgastric view by transesophageal echocardiography allows high-quality images of the pericardium, which might be useful in diagnosing constrictive pericarditis.

Diagnosis, Differential↗
PubMedDate not supplied

Giant mitochondria in a cardiomyopathic heart.

Giant mitochondria (megamitochondria) measuring up to 14 microm in length and 3 microm in width are sporadically present in an exclusively interfibrillar position in the cardiomyocytes of a patient with restrictive cardiomyopathy. The number of cristae is augmented in the megamitochondria; these internal membranes are for the most part irregularly arrayed, but in certain giant mitochondria they run a parallel, zigzag course imparting a paracrystalline appearance to such organelles. Many of the giant mitochondria have one or several lucent, single membrane-bound inclusions that contain either alpha- or beta-glycogen particles. Megamitochondria probably originate at least in part by fusion of adjacent organelles.

Cardiomyopathies↗
PubMedDate not supplied

AL cardiac amyloidosis and arterial thromboembolic events.

OBJECTIVE: To study the prevalence and characteristics of arterial thromboembolic events (ATEE) in the course of AL amyloidosis. METHODS: We report the case of a non-anticoagulated patient with AL amyloidosis restrictive cardiomyopathy who developed acute lower limb ischaemia. We then prospectively determined the prevalence of ATEE in all patients with AL amyloidosis who were evaluated in our institution for autologous peripheral stem cell transplantation. RESULTS: Nine out of 15 non-anticoagulated patients (60%) developed ATEE: ischaemic stroke (3), transient cerebral ischaemic attack (2), multiple peripheral arterial emboli (1), bilateral iliac artery thrombosis (1), bilateral optic nerve ischaemia (1), and mesenteric ischaemia (1). Haemodynamic stasis seemed to play a leading role in the pathophysiology of ATEE, in that all patients were on sinus rhythm and only one had a thrombus on echocardiography. We identified possible contributing factors to ATEE occurrence: concomitant treatments with oestroprogestogen regimen, thalidomide, granulocyte-macrophage colony-stimulating factor (GM-CSF) and extracellular volume disturbances related to the cytapheresis procedure. CONCLUSION: We report on an unusual frequency of ATEE among patients with AL cardiac amyloidosis. Despite its theoretical risks, anticoagulation should be discussed for patients with amyloid cardiomyopathy.

Aged↗
PubMed2004

An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy.

Familial amyloidotic polyneuropathy is a rare autosomal dominant disease, with clinical symptoms beginning in most kindreds within the third to seventh decades of life. The primary defect results from one of a number of mutations in the transthyretin (TTR) gene. Over 80 mutations in the TTR gene have been described. Most mutations give rise to adult onset progressive peripheral and autonomic neuropathy, due to amyloid deposition within the nerves, and often subclinical cardiac amyloid and vitreous deposits. We report here the clinical and molecular characterization of a rare TTR missense mutation discovered in a young woman from Macedonia, showing severe axonal sensory-motor polyneuropathy, restrictive cardiomyopathy and bilateral vitreous deposits. The transthyretin gene, analyzed by direct nucleotide sequencing, demonstrated a T to G transversion at nucleotide 183 in the exon 2 which is predicted to cause a heterozygous valine for phenylalanine substitution at codon 33 (TTR Phe33Val). This mutation has been previously reported only twice, without complete clinical descriptions.

Adult↗
PubMed1998

Molecular genetics of congestive heart failure.

The manifestation of congestive heart failure occurs secondary to a great variety of cardiac or systemic disorders that share a temporal or permanent loss of cardiac function. In order to enhance our knowledge about the genetics of heart failure it is mandatory to analyse the aetiologic factors of these underlying disorders separately. Monogenic forms of congestive heart failure have initially been described by observant physicians in consecutive generations of affected families. Molecular genetic analyses of these families subsequently allowed us to localise and identify some of the genes that cause hypertrophic, dilative, or restrictive cardiomyopathies, congenital heart disease, as well as a number of inborn errors of metabolism. However, the great majority of patients develops heart failure as a final consequence of multifactorial conditions such as hypertension, cardiac hypertrophy, or coronary artery disease. Each of these conditions may be the product of a complex equation that includes environmental and genetic factors. Indeed, some of these factors may be harmful, others protective and for most it takes decades before a phenotype will be clinically detectable. Given this complex scenario it was not unexpected that early studies on candidate genes came up with partially controversial information. This review aims to summarize and to comment on the principal findings of this work.

Animals↗
PubMed1991

Doppler echocardiography in the evaluation of left ventricular diastolic function.

The examination of diastolic filling velocities by Doppler echocardiography has provided increasing insights into the understanding of left ventricular diastolic performance in health and disease. However, several recent studies have emphasized the importance of a wide variety of physiologic variables, including heart rate, respiration, age, and loading conditions that need to be considered as potential confounding factors in the interpretation of these filling patterns. Despite this, Doppler echocardiographic assessment has been useful in the evaluation and prognostication of a variety of restrictive cardiomyopathies. Furthermore, the study of Doppler diastolic filling velocities has improved our understanding of common cardiac diseases, including hypertensive and ischemic myocardial disease. Further enhancement of our understanding of left ventricular diastolic filling in health and disease will depend on more precise elucidation of the mechanisms responsible for diastolic function.

Animals↗
PubMed1989

Radionuclide detection of abnormal ventricular filling patterns in rejecting human allografts.

Parameters of systolic and diastolic function obtained from radionuclide ventriculography (RNV) were evaluated in nine cardiac allograft recipients. In 25 examinations, left end-diastolic volume (LEDV), cardiac output (CO), left ejection fraction (LEF), right ejection fraction (REF), heart rate (HR), peak filling rate (PFR), time to peak filling rate (TPFR), peak ejection rate (PER), and average filling rate for the first half of diastole (DFRH) were determined. Endomyocardial biopsy was obtained within 48 hours. Biopsies were divided into three treatment classes (0 = normal; 1 = rejection but not requiring supplemental therapy; and 2 = rejection requiring supplemental immunotherapy). Two independent variables of diastolic function proved to be significant (DFRH P less than 0.00001, and PFR P less than 0.002) predictors of the dependent variable class when regression analysis was applied to the data. Alterations in diastolic function associated with acute rejection are detectable on RNV and simulate changes anticipated in a primary restrictive cardiomyopathy.

Adolescent↗
PubMed2006

Rate control in atrial fibrillation: looking beyond the average heart rate.

PURPOSE OF REVIEW: The aim of this article is to provide a perspective on rate control in atrial fibrillation which emphasizes patient wellbeing (exercise tolerance, symptoms, quality of life) over attempts to reduce resting or exercise heart rate to an arbitrary range. RECENT FINDINGS: Recent trials of rhythm versus rate control strategies of treatment in patients with atrial fibrillation suggest that rate control is a viable first line strategy in many patients. The adverse consequences of atrial fibrillation with rapid ventricular response are partly due to factors other than rate itself, such as irregularity of ventricular response, and variable changes in autonomic nervous system output. Digoxin, calcium channel blockers, and beta-blockers cause a similar reduction in resting heart rate. Beta blockers are the most potent at reducing exercise heart rate, followed by calcium channel blockers and digoxin. Exercise tolerance is occasionally improved by digoxin, sometimes improved by calcium channel blockers and not improved by (and sometimes decreased by) beta-blockers. Information about quality of life with different rate control regimens is sparse. SUMMARY: Rate control in atrial fibrillation provides important benefits to patients in terms of symptoms, quality of life and prevention of late consequences of uncontrolled rate (such as tachycardia induced cardiomyopathy). Restricting treatment objectives to achievement of a specific heart rate range on resting or exercise electrocardiogram may result in lack of patient benefit or worsened symptoms. Understanding the nuances of rate control when treating individual patients and interpreting existing evidence allows patients to experience the most benefit from this treatment strategy.

Anti-Arrhythmia Agents↗
PubMed2006

Impact of liver transplantation on cardiac autonomic denervation in familial amyloid polyneuropathy.

Familial amyloid polyneuropathy (FAP) is a rare and severe hereditary form of amyloidosis, due to the deposition of a genetic variant transthyretin essentially produced by the liver, and characterized by both sensorimotor and autonomic neuropathy. Liver transplantation (LT) is the most effective treatment to stop the progression of the disease. Cardiac amyloid infiltration is usually associated with cardiac denervation, restrictive cardiomyopathy, conduction disturbances, and sometimes sudden death. Whether the cardiac involvement related to amyloid deposition may be altered after LT remains unclear. We conducted the present study to define the outcome of cardiac involvement after LT in 31 patients with FAP (age, 39 +/- 12 yr). Patients were evaluated before and after LT (24 +/- 15 mo). Cardiac sympathetic denervation was assessed by both iodine-123 metaiodobenzylguanidine (MIBG) scintigraphy and heart rate variability (HRV) analysis. The scintigraphic importance of sympathetic denervation was evaluated globally on planar imaging using heart-to-mediastinum activity ratio (H/M) measured 4 hours after injection, and regionally using single-photon emission tomography (SPET) imaging. Amyloid myocardial infiltration was assessed by echocardiography. Diffuse sympathetic denervation was found when using cardiac MIBG planar imaging in patients evaluated before LT and compared with 12 control subjects (H/M: 1.45 +/- 0.29 vs. 1.98 +/- 0.35, p < 0.001). On SPET images, defects were diffuse in 12 patients and focal in 19 patients, with predominance at the inferior and apical segments. No change in sympathetic innervation was found in patients after LT as assessed either with planar imaging (H/M after LT: 1.46 +/- 0.28, p = not significant vs. H/M before LT) or with SPET imaging. HRV nonspectral indexes showed that the standard deviation of all cycles was significantly lower in patients compared with control subjects, and remained unchanged after LT. Conduction disturbances and ventricular arrhythmias were associated with low cardiac MIBG uptake, and progressed after LT. The left ventricular wall was slightly thickened in patients, and a further increase was observed after LT (posterior wall from 9.2 +/- 1.8 to 10.1 +/- 2.3 mm, p = 0.02; septal wall from 10.6 +/- 2.7 to 12.1 +/- 4, p = 0.046). Neurologic status stabilized in 26 patients, but worsened in the 5 patients who had the most severe cardiac sympathetic denervation before LT as measured by MIBG imaging. The magnitude of the cardiac sympathetic denervation remained stable 2 years after LT in patients with FAP, whereas the cardiac amyloid infiltration progressed. The importance of cardiac sympathetic denervation found in FAP patients before LT was associated with a neurologic worsening after LT.

3-Iodobenzylguanidine↗
PubMed2006

Apical hypertrophy caused by glycogen storage disease creating artifacts in myocardial perfusion imaging.

A 46-year-old man with atrial fibrillation and coronary artery disease was referred for myocardial perfusion imaging for the evaluation of chest pain. The patient underwent adenosine stress and rest dual-isotope myocardial perfusion imaging. There was no adenosine-induced chest pain or EKG changes specific for ischemia. Myocardial perfusion images demonstrated an apical "hot spot" and decreased tracer activity in the base of the heart. The polar plots showed a bright center with a rim of significant (>2.5 SD) defect around the base of the myocardium. Ischemia in the base of the heart, with the apex of the heart seemingly normal, was rather puzzling and correlation with magnetic resonance images (MRI) showed apical hypertrophy. Examination of the history revealed that the patient was diagnosed with restrictive cardiomyopathy 2 years ago and endocardial biopsy showed intramyocardial glycogen on electron microscopy, suggesting glycogen storage disease. The case illustrates a "hot spot" resulting from apical hypertrophy creating artifactual fixed defects in myocardial perfusion images and in polar maps.

Atrial Fibrillation↗
PubMed1982

Hemodynamic and angiocardiographic observations in familial amyloidosis with polyneuropahy.

Eleven patients with familial amyloidosis with polyneuropathy were studied by heart catheterization; eight of them also by right and left ventriculography and selective coronary angiography. Signs of congestive heart failure, often reported as typical of cardiac amyloidosis, were found in only one patient. The systolic function was relatively unimpaired, but in several patients hemodynamic data suggested restrictive cardiomyopathy. Six patients showed signs of right or left ventricular outflow tract obstruction. Thus, no uniform hemodynamic pattern could be identified, but the changes found indicate impaired diastolic function.

Aged↗
PubMed1977

Primary amyloidosis with cardiac involvement diagnosed by left ventricular endomyocardial biopsy.

A case of primary amyloidosis is described. The patient presented with the nephrotic syndrome and later developed heart failure. Left ventricular endomyocardial biopsy was performed and haemodynamic data were recorded. The findings were those of a 'restrictive' cardiomyopathy. Histology of the biopsy was pathognomonic of amyloid involvement of the heart. The patient was started on chemotherapy consisting of prednisone, penicillamine, melphalan and fluoxymesterone. This case demonstrates the ability of endomyocardial biopsy in arriving at a definitive diagnosis in this patient.

Amyloidosis↗
PubMed1979

Preliminary experience with the helifix electrode for transvenous atrial implantation.

A Helifix electrode was inserted transvenously in the right atrial appendage for temporary atrial stimulation in three patients. The low stimulation threshold as well as the excellent stability of the electrode encouraged us to proceed to permanent implantation of this lead in thirteen patients. The lead was introduced through the saphenous vein in twelve patients and through the cephalic vein in one patient. Five patients had sinoatrial dysfunction and five had bradycardia-tachycardia syndrome; they received atrial demand pacemakers. Two patients had atrioventricular block and received atrial synchronous ventricular pacemarkers. Our last patient had restrictive cardiomyopathy, heart failure and a drug-refractory atrial arrhythmia. She received a dual-chamber sequential pacing device. Atrial electrode displacement occurred in one patient soon after implantation. The lead was promptly repositioned without difficulty. Partial sensing of spontaneous P waves was observed in two patients. One recovered spontaneously, the second after substituting a pulse generator with a higher input sensitivity. Our clinical experience during the period from November 1977 to January 1979 has shown that the Helifix electrode is suitable for transvenous atrial implantation.

Adult↗
PubMed1994

Transesophageal echocardiography in pericardial disease and tamponade.

While most pericardial disorders can be imaged by transthoracic echocardiography, transesophageal echocardiography may be required in those cases where pericardial pathology is clinically suspected, but cannot be imaged adequately with transthoracic echocardiography. Transesophageal echocardiography is especially helpful in patients after heart or chest surgery, with cardiac compression by a loculated pericardial hematoma, in patients with dissection, endocarditis, or interatrial shunting associated with pericardial effusion, in patients with pericardial tumors, and in the differential diagnosis between constrictive pericarditis and restrictive cardiomyopathy.

Cardiac Tamponade↗
PubMed1994

Doppler echocardiography in cardiac tamponade and constrictive pericarditis.

Doppler echocardiography has greatly facilitated the assessment of patients with compressive cardiac disease. Patients in whom cardiac tamponade or pericardial constriction are suspected should undergo a complete echocardiographic examination including careful Doppler analysis of transmitral flow and inflow through the hepatic vein or superior vena cava (SVC). Monitoring of both the electrocardiogram and the phase of respiration are an integral part of this examination. Patients with cardiac tamponade exhibit a > 25% reduction in E wave velocity during the first inspiratory cardiac cycle; they exhibit predominant systolic inflow through the hepatic vein or SVC (with a predominant X descent with little or no Y descent). In constrictive pericarditis the pattern of transmitral flow variation is comparable to that observed in cardiac tamponade, however, a prominent Y descent is often observed on hepatic vein or SVC Doppler study. Similar changes with respiration may be observed in mitral inflow in obese patients or in those with chronic obstructive pulmonary disease, however, in these conditions the nadir of E wave velocity is observed 2-3 cardiac cycles after the first inspiratory beat. Restrictive cardiomyopathy may produce a similar systemic venous flow pattern, but increased inspiratory flow reversals and lack of respiratory variation in transmitral flow velocity distinguish it from constrictive pericarditis.

Cardiac Tamponade↗
PubMedDate not supplied

Echocardiographic and Doppler diagnosis: first case of atrial septal aneurysm in a cat.

A 6-year-old female cat developed pleural and abdominal effusion. Cardiac ultrasound and 2D color tissue Doppler imaging revealed restrictive cardiomyopathy with severe biatrial dilatation and hypertension. This cardiomyopathy was associated with atrial septal aneurysm and a patent foramen ovale. The atrial septal aneurysm involved the entire atrial septum. Necropsy and histological examination confirmed all these findings. ASA is a rare malformation and, as in this cat, it generally occurs concomitantly with congenital or acquired heart disease and may be explained by greater pressure in one atrium, leading to controlateral protrusion of the atrial septum.

Animals↗
PubMed1993

Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant.

Cardiac amyloidosis is caused by amyloid deposits derived from different human plasma proteins. It can lead to cardiac conduction disturbances, restrictive cardiomyopathy, and low output heart failure. The heart is variably involved during the development of systemic amyloidosis and seems to be more frequently affected in immunoglobulin (primary) than in reactive (secondary) amyloidosis. Amyloid is common in the elderly. Isolated atrial amyloid, for which a major subunit is the atrial natriuretic peptide, seems to be three times more frequent than senile cardiac amyloid, which is derived from normal prealbumin (transthyretin). Like polyneuropathy, cardiac amyloidosis is a prominent clinical feature of hereditary amyloidosis, namely of the autosomal dominant transthyretin (TTR) type. All 28 cases of TTR amyloidoses reported so far were heterozygotes for a single nucleotide change in the gene for TTR that resulted in amino acid substitutions in the mature protein. A new TTR genetic variant is reported in a German family where the index patient presented at the age of 63 with anginal pain and arrhythmia. Electrocardiography was suggestive of a pseudoinfarction pattern, and echocardiography and cardiac catheterisation showed signs of hypertrophic nonobstructive cardiomyopathy with increased ventricular filling pressures and a prominent "a" wave. Amyloid of the TTR type was identified by immunohistochemistry in the endomyocardial biopsy specimen. Hybrid isoelectric focusing established heterozygosity by showing normal TTR protein and an electrically neutral TTR variant differing from all known TTR variants so far. The patient died in an accident before investigations were complete. Electrophoretic analysis of the plasma from his first degree relatives (son, daughter, brother, and mother) identified the asymptomatic 22 year old son as an apparently heterozygous carrier of the mutant TTR protein. Comparative tryptic peptide mapping and sequencing showed that isoleucine at position 68 of the amino acid sequence was replaced by leucine.

Amino Acid Sequence↗