SEARCH · PubMed Health

Results for “restrictive cardiomyopathy”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 19 recordsLinked to original sources

PubMed2005

[Cardiomyopathies II. Hypertrophic cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy].

This review focuses on hypertrophic (HCM), restrictive (RCM) and arrhythmogenic right ventricular cardiomyopathies (ARVC). The clinical phenotype of HCM depends not only on the gene mutations involved, but also on "modifier genes". It is characterized by an asymmetrical hypertrophy. Investigations of endomyocardial biopsies (EMBs) typically reveal a disarray of the hypertrophied cardiomyocytes. Percutaneous septum ablation has gained relevance as the treatment of choice in hypertrophic obstructive cardiomyopathy. Myocardial and endomyocardial RCM-forms can be differentiated. Enlargement of the atria in concert with normal dimensions of the ventricles and almost normal systolic contractility as well as the dip-plateau phenomenon are characteristic findings in RCM. EMB diagnostics are pivotal to identify the causes underlying secondary RCM types. Treatment is directed at heart failure and specifically at the underlying disease. With ARVC, apoptosis, viral infection/inflammation and genetic dystrophy result in fibrofatty degeneration primarily of the right, and with further progression also of the left ventricle. The primary treatment goal in ARVC is prevention of sudden cardiac death. As for other cardiomyopathies, there is increasing evidence for the superiority of ICD compared with pharmacological approaches.

Cardiomyopathies↗

PubMed1986

Clinical, hemodynamic and endomyocardial biopsy findings in idiopathic restrictive cardiomyopathy.

Restrictive cardiomyopathy is uncommon and in its overt form is associated with heart failure, characterized primarily by abnormalities in diastolic function and preserved or nearly preserved systolic function. It may be associated with amyloidosis, hemochromatosis or endomyocardial fibrosis. We describe five patients with restrictive cardiomyopathy, ages ranging from 35 to 71 (mean 49), three of whom were men. Fatigue, dyspnea on exertion and chest pain were the most frequent symptoms. Only one patient had overt heart failure, and three had normal or near-normal hemodynamics at rest that became greatly abnormal with exercise. Four of the five patients are alive now 9 to 77 (mean 33) months following the onset of symptoms. Despite prior emphasis on specific causes, restrictive cardiomyopathy in this series had no definable cause. Moreover, the presence of a "latent" form of restriction (abnormalities only with exercise) suggests that the incidence of the disease may be higher than previously appreciated.

Adult↗

PubMed1994

Restrictive cardiomyopathies.

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.

Amyloidosis↗

PubMed1998

[Restrictive cardiomyopathy].

Restrictive cardiomyopathies are the rarest forms of cardiomyopathy. They are characterised by restrictive filling and reduction in diastolic volume of one or both ventricles with normal wall thickness and systolic function. Increased interstitial fibrosis may be observed. This form of cardiomyopathy may be idiopathic or associated with other conditions (amyloid disease, endomyocardial pathology with or without hypereosinophilia). The idiopathic variety is sometimes familial. The symptoms are not specific except for angina in cases of amylosis. All the signs of cardiac failure except cardiomegaly are present in advanced stages. In the idiopathic forms, thromboembolic complications are common. Atrial fibrillation and atrioventricular block are also often observed. The differential diagnosis with chronic constrictive pericarditis is sometimes difficult. Different investigations (Doppler echocardiography, CT scan, magnetic resonance imaging, isotopes, cardiac catheterisation and endomyocardial biopsy) may all fail to make the diagnosis and pericardectomy may have to be performed in the last resort. Treatment is based on diuretics, prevention of atrial fibrillation (amiodarone) and oral anticoagulants. Digoxin, which fixes to amyloid fibrils, may be arrhythmogenic in amyloidosis. Cardiac pacing may be used in cases of atrioventricular block and brady-arrhythmias. Cardiac transplantation is available in advanced forms after exclusion of amyloidosis. New specific therapeutic approaches to amyloidosis are discussed.

Cardiomyopathy, Restrictive↗

PubMed1990

Analysis of left ventricular diastolic function by the pressure-volume relation in cases with idiopathic restrictive cardiomyopathy and amyloid restrictive cardiomyopathy.

To assess left ventricular (LV) diastolic function in idiopathic restrictive cardiomyopathy (IRCM) and amyloid restrictive cardiomyopathy (ARCM), we analyzed LV cineangiograms and pressures (tip manometer) in two patients, one with IRCM and the other with ARCM. LV volume and instantaneous rate of change of volume were derived from frame-by-frame analyses of angiograms. LV relaxation was assessed by the time constant of isovolumic pressure decay. LV compliance was evaluated by the pressure-volume relationship. From these analyses, we conclude as follows: (1) In restrictive cardiomyopathy (RCM), LV diastolic dysfunction may be characterized by impaired relaxation and decreased compliance; (2) LV diastolic filling was minimally impaired or normal in both conditions; (3) The ventricular diastolic pressure wave form of "dip and plateau" seemed not to be a characteristic sign in RCM.

Blood Pressure↗

PubMed1984

Restrictive cardiomyopathy.

Restrictive cardiomyopathy is a descriptive clinical and hemodynamic syndrome emphasizing the pathophysiologic mechanisms by which myocardial hypertrophy and/or infiltrative processes cause cardiocirculatory morbidity. This diagnosis can be made with precision only after pericardial construction is excluded and myocardial biopsy has identified the restrictive process. Though a variety of rather rare infiltrative pathological entities may be responsible for the restrictive cardiomyopathic picture, most commonly no definitive pathologic diagnosis is established despite extensive hemodynamic and histologic investigation. Nonetheless, a therapeutic trial with a calcium entry blocking agent is warranted.

Amyloidosis↗

PubMed2004

Clinico-pathological evaluation of restrictive cardiomyopathy (endomyocardial fibrosis and idiopathic restrictive cardiomyopathy) in India.

BACKGROUND: Restrictive heart disease is characterized by impairment of ventricular filling during diastole with preserved systolic function. The clinical and histopathological profile on endomyocardial biopsy of a cohort of patients with restrictive cardiomyopathy (RCM) is presented. METHODOLOGY: The medical records of patients presenting with heart failure with systemic congestion, subsequently diagnosed as restrictive heart disease after evaluation including cardiac catheterisation, were studied retrospectively to determine the clinical spectrum of restrictive cardiomyopathy. The diagnosis of RCM was made, based on systemic congestion with dilated atria and near normal ventricular size and function. Only patients who had an endomyocardial biopsy were included in the study. Patients with chronic constrictive pericarditis and secondary restrictive heart disease mainly amyloidosis were excluded from the study. RESULTS: All 52 patients had heart failure with normal or near normal left ventricular size and function. Based on right and left ventricle angiography, patients were classified into two groups. Group I with findings suggestive of EMF (n=30) and Group II no evidence of EMF on angiography i.e. 'idiopathic RCM' (IRCM) (n=22). Baseline characteristics were similar in the two groups. Echocardiography revealed typical features of endomyocardial fibrosis in Group I patients, with apical obliteration of right and left ventricular apices. Group II patients had no apex obliteration (except in four patients, who were misclassified and in whom angiography did not show apex obliteration). The Group II patients had features of IRCM in the form of normal left and right ventricular size and function with restrictive features of doppler filling along with dilated left and right atria. Angiocardiography in EMF patients showed isolated RV involvement in only two patients. In the remaining 28 patients, the obliterative changes were biventricular with RV involvement more severe than LV involvement. Angiographic findings in Group II (IRCM) patients were unremarkable with preservation of normal trabecular pattern and absence of obliterative changes. Mild atrioventricular regurgitation was present in 10/22 patients. Histopathological examination revealed that endocardial thickening was more common (77% vs. 23%) in EMF patients. The presence of myocyte hypertrophy (70-80%), myocytolysis (40-50%) and interstitial fibrosis (46-56%) were similar in both groups. CONCLUSIONS: The majority of our patients had biventricular EMF. A significant number of patients had clinical hemodynamic features of restrictive heart disease but no evidence of EMF on angiography. These IRCM patients had similar clinical profiles to EMF but on endomyocardial biopsy the endocardial thickening was minimal and seen in few patients (5/22).

Adolescent↗

PubMed1993

[Restrictive cardiomyopathies].

The restrictive cardiomyopathies are the least common of the 3 major categories of cardiomyopathic disorders seen in Western countries. According to the report of the WHO/ISFC Task Force the term restrictive cardiomyopathy applies to only 2 conditions: endomyocardial fibrosis and Loeffler endocarditis while many specific myocardial diseases can develop a restrictive pathophysiologic profile along their natural history. During the last decade this topic has received 2 main contributions: the identification of a common pathophysiologic ground linking Loeffler endocarditis and endomyocardial fibrosis and the identification of the so-called idiopathic restrictive cardiomyopathy. This condition, defined as a myocardial disease with restrictive physiology, unknown etiology and without histological evidence of infiltrative or storage diseases, appears to be the single most frequent type of restrictive cardiomyopathy in Western countries. A revision of the current classification of cardiomyopathies and particularly of restrictive myocardial disease is necessary.

Cardiomyopathy, Restrictive↗

PubMed2025

Exploring the c.406 C > T variant in TNNI3 gene: pathogenic insights into restrictive cardiomyopathy.

BACKGROUND: Restrictive cardiomyopathy (RCM) is a rare cardiac disorder characterized by diastolic dysfunction and myocardial stiffness, frequently associated with genetic variants. We aimed to explore the genetic basis of RCM in a diagnosed patient through comprehensive genetic analysis. METHODS: Whole exome sequencing (WES) was conducted on the proband, followed by Sanger sequencing for variant confirmation and familial segregation analysis. In silico tools and structural protein modeling were employed to assess the functional impact of the identified variant. RESULTS: The c.406 C > T variant, classified as likely pathogenic, results in a truncated TNNI3 protein. Bioinformatics analysis highlighted significant structural disruptions, likely impairing sarcomere function. The patient presented with growth retardation, progressive dyspnea, and echocardiographic findings consistent with RCM. Both parents were heterozygous carriers, supporting an autosomal recessive inheritance pattern. The homozygosity of the novel variant identified in this study is a critical factor in the genotype-phenotype correlation observed in this case. CONCLUSION: This study identified the novel c.406 C > T variant in TNNI3 as a potential pathogenic driver of RCM, emphasizing the critical role of genetic evaluations in early diagnosis and management of inherited cardiomyopathies. Further studies are warranted to explore therapeutic interventions targeting TNNI3-related pathologies.

Humans↗

PubMed2000

Sudden death and cardiovascular collapse in children with restrictive cardiomyopathy.

BACKGROUND: Restrictive cardiomyopathy (RCM) is rare in children, and the prognosis is poor. In the present study, we evaluated all pediatric patients with RCM who were at our institution during a 31-year period to determine the clinical outcome and cause of death. Those who sustained sudden, unanticipated cardiac arrests were evaluated for risk factors that are predictive of sudden death. METHODS AND RESULTS: Eighteen consecutive patients were reviewed. Presentation, clinical course, laboratory data, and histopathological evidence of ischemia were compared between patients with and without sudden death events. The results demonstrated that patients who were at risk for sudden death were girls with chest pain, syncope, or both at presentation and without congestive heart failure. Although not statistically significant for sudden death, Holter monitor evidence of ischemia predicted death within months. Histopathological evidence of acute or chronic ischemia was found in the majority of patients, with acute ischemia more common among those who sustained sudden death events. CONCLUSIONS: All children with RCM are at risk for ischemia-related complications and death, and some are at risk of sudden death. In the present study, patients at risk of sudden death appeared well and had no evidence of ongoing heart failure but often had signs or symptoms of ischemia characterized by chest pain, syncope, or both. ECGs and Holter monitors may be useful screening tools. The use of beta-blockade, the placement of an implantable cardioverter-defibrillator, and preferential status 1A or B listing for cardiac transplantation are proposed for pediatric patients with RCM and evidence of ongoing ischemia.

Cardiomyopathy, Restrictive↗

PubMed2026

Potential Contribution of DES (p.Leu88Met) and MYH7 (p.Arg787His) Variants to Familial Restrictive Cardiomyopathy.

BACKGROUND: Restrictive cardiomyopathy (RCM) is a rare, severe cardiac disease with a heterogeneous genetic basis. Both genetic and nongenetic factors contribute to RCM pathogenesis. Identifying the underlying molecular causes is important for diagnosis and family screening. In this study, we investigated the genetic basis of RCM in a 52-year-old woman with a family history of RCM and heart disease. METHODS: Genetic predisposition was evaluated using whole-exome sequencing (WES). Candidate variants identified in the proband were validated by Sanger sequencing and interpreted using bioinformatics tools and the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines. RESULTS: Two heterozygous missense variants were identified: a novel DES c.262C > A (p.Leu88Met) variant and a previously reported MYH7 c.2360G > A (p.Arg787His) variant. The DES variant was absent from population databases and was classified as a variant of uncertain significance, whereas the MYH7 variant has been reported in the cardiomyopathy spectrum, primarily in hypertrophic cardiomyopathy. Although both variants may be relevant to the participant's phenotype, their contribution remains uncertain without segregation and functional studies. CONCLUSION: These findings expand the spectrum of DES and MYH7 variants observed in cardiomyopathy and highlight the need for further segregation and functional analyses to clarify their clinical significance in RCM. Identifying the genetic basis of RCM in this family may improve screening strategies and guide clinical management.

DES↗

PubMed1997

Morphologic spectrum of primary restrictive cardiomyopathy.

A restrictive hemodynamic profile with left ventricular (LV) end-diastolic volume < 100 ml/m2 and LV end-diastolic pressure > 18 mm Hg, in the absence of endomyocardial, pericardial, and specific cardiomyopathy, is a peculiar feature of primary restrictive cardiomyopathy. From 1985 to 1994, 7 hearts of patients who met the above hemodynamic criteria and underwent endomyocardial biopsy because of heart failure, were studied through gross (5 cardiectomies and 2 autopsies), histologic, and electron microscopic investigations. Ages ranged from 9 to 48 years (mean age 29 +/- 13). Four patients (57%) had a positive family history: 2 for hypertrophic and 2 for restrictive cardiomyopathy. Three patterns were identified in the 7 hearts: (1) pure restrictive form in 4 cases with mass/volume ratio 1.2 +/- 0.5 g/ml, ejection fraction 58 +/- 5%, LV end-diastolic volume 67.5 +/- 12.6 ml/m2, LV end-diastolic pressure 26.7 +/- 3.5 mm Hg; (2) hypertrophic-restrictive form in 2 cases with mass/volume ratio 1.5 +/- 0.07 g/ml, ejection fraction 62 +/- 1%, LV end-diastolic volume 69 +/- 10 ml/m2, LV end-diastolic pressure 30 +/- 7 mm Hg; and (3) mildly dilated restrictive form in 1 case with mass/volume ratio 0.9 g/ml, ejection fraction 25%, LV end-diastolic volume 98 ml/m2, LV end-diastolic pressure 40 mm Hg. Histology and electron microscopy disclosed myocardial and myofibrillar disarray and endoperimysial interstitial fibrosis in each pattern. The familial forms suggest the presence of a genetic abnormality. Primary restrictive cardiomyopathy may present with or without hypertrophy and shares similar microscopic pictures with hypertrophic cardiomyopathy. The 2 entities may represent a different phenotypic expression of the same genetic disease.

Adolescent↗

PubMed1998

Collagen subtypes and matrix metalloproteinase in idiopathic restrictive cardiomyopathy.

BACKGROUND: Idiopathic restrictive cardiomyopathy is a rare disease characterized by diastolic dysfunction, and the pathogenesis of the stiff heart remains unclear. The purpose of this study was to analyze the subpopulation of collagen fibers and determine the expression of matrix metalloproteinase in restrictive cardiomyopathy. METHODS AND RESULTS: In endomyocardial biopsy specimens obtained from seven patients with restrictive cardiomyopathy, collagen fiber types I, III, and IV, and matrix metalloproteinase- and two were observed by light and electron microscopy, using monoclonal antibodies. Type I collagen was less prominent in the interstitium, whereas the immunoreactivity for type III collagen was marked. The immunoreactivity against matrix metalloproteinase-1 was observed along with types I and III collagen fibers and in the cytoplasm of some fibrocytes/fibroblasts. The matrix metalloproteinase-1 tended to increase when the reactivity against types I and III collagen was prominent. Both type IV collagen and matrix metalloproteinase-2 were observed along arterial walls and the basement membrane of cardiocytes. CONCLUSIONS: Increased type III collagen may play an important role as the cause of left ventricular stiffness in restrictive cardiomyopathy. The matrix metalloproteinase appeared to be involved in a cascade of collagen synthesis and the remodeling of the heart in patients with restrictive cardiomyopathy.

Adult↗

PubMed1980

Hemochromatosis heart disease: an unemphasized cause of potentially reversible restrictive cardiomyopathy.

Cardiac involvement in hemochromatosis typically results in congestive cardiomyopathy; a restrictive cardiomyopathy due to hemochromatosis is distinctly rare. A restrictive cardiomyopathy, which developed in the patient described in this report, was due to hemochromatosis which mimicked constrictive pericarditis clinically, echocardiographically and hemodynamically, and resulted in a thoracotomy for attempted surgical therapy. The fact that hemochromatosis represents the only cause of a restrictive cardiomyopathy that is potentially reversible by medical therapy makes early recognition of hemochromatosis heart disease important.

Cardiomyopathies↗

PubMed2004

[Restrictive cardiomyopathy in childhood].

Restrictive cardiomyopathy is a rare heart muscle disease in childhood. By presenting a case report of a 15 year old adolescent, the aim of this article is to describe diagnosis, pathogenesis and therapy of restrictive cardiomyopathy. A review of the literature comprising pediatric studies on restrictive cardiomyopathy serves as a basis to discuss recommendations for therapeutic strategies in pediatric patients with this rare disease.

Adolescent↗

PubMed2000

Clinical profile and outcome of idiopathic restrictive cardiomyopathy.

BACKGROUND: Idiopathic restrictive cardiomyopathy is a poorly recognized entity of unknown cause characterized by nondilated, nonhypertrophied ventricles with diastolic dysfunction resulting in dilated atria and variable systolic function. METHODS AND RESULTS: Between 1979 and 1996, 94 patients (61% women) 10 to 90 years old (mean, 64 years) met strict morphological echocardiographic criteria for idiopathic restrictive cardiomyopathy, mainly dilated atria with nonhypertrophied, nondilated ventricles. None had known infiltrative disease, hypertension of >5 years' duration, or cardiac or systemic conditions associated with restrictive filling. Nineteen percent were in NYHA class I, 53% in class II, and 28% in class III or IV. Atrial fibrillation was noted in 74% of patients and systolic dysfunction in 16%. Follow-up (mean, 68 months) was complete for 93 patients (99%). At follow-up, 47 patients (50%) had died, 32 (68%) of cardiovascular causes. Four had heart transplantation. The death rate compared with actuarial statistics was significantly higher than expected (P<0.0001). Kaplan-Meier 5-year survival was 64%, compared with expected survival of 85%. Multivariate analysis using proportional hazards showed that the risk of death approximately doubles with male sex (hazard ratio [HR] = 2.1), left atrial dimension >60 mm (HR = 2.3), age >70 years (HR = 2.0), and each increment of NYHA class (HR = 2.0). CONCLUSIONS: Idiopathic restrictive cardiomyopathy or nondilated, nonhypertrophic ventricles with marked biatrial dilatation, as defined morphologically by echocardiography, affects predominantly elderly patients but can occur in any age group. Patients present with systemic and pulmonary venous congestion and atrial fibrillation and have a poor prognosis, particularly men >70 years old with higher NYHA class and left atrial dimension >60 mm.

Adolescent↗

PubMedDate not supplied

Features of mildly dilated congestive cardiomyopathy compared with idiopathic restrictive cardiomyopathy and typical dilated cardiomyopathy.

Congestive cardiomyopathy was recognized in eight patients with only mildly dilated ventricles (an echocardiographic ventricular diastolic dimension index of less than 10% to 15% above the normal range) but with other features typical of end-stage congestive cardiomyopathy. Such patients with mildly dilated cardiomyopathy (MDCM) represented 5% of heart transplant recipients with cardiomyopathy, who were analyzed by us. The clinical, echocardiographic, and hemodynamic data, as well as the gross and microscopic pathologic findings of the hearts in this group were compared with similar data in five patients with idiopathic restrictive cardiomyopathy (IRCM) and 10 patients with typical dilated cardiomyopathy (DCM). Compared with IRCM and DCM, patients with MDCM had a higher incidence of familial cardiomyopathy (p less than 0.009). The echocardiographic features of patients with MDCM and DCM were virtually identical, showing globular hearts with predominant left ventricular dilation and diffuse poor left ventricular contraction. Patients with IRCM had marked atrial dilation but less abnormality of left ventricular size and contraction parameters. On the basis of echocardiographic data, patients with IRCM and MDCM could be well segregated. Cardiac index and light microscopic examinations were similar in the three groups. However, electron microscopy showed a lack of myofibrillar loss in patients with IRCM, little or no myofibrillar loss in those with MDCM, and almost total myofibrillar loss in those with DCM. Patients with MDCM have a high prevalence of familial cardiomyopathy. Absolute heart size and electron microscopic features of the MDCM group were intermediate between IRCM and DCM, but other clinical, echocardiographic and hemodynamic findings were similar to typical DCM.

Adolescent↗

PubMed1998

Autonomic functions in restrictive cardiomyopathy and constrictive pericarditis: a comparison.

BACKGROUND: This study was undertaken to analyze autonomic functions in restrictive cardiomyopathies. Restrictive cardiomyopathies have clinical and hemodynamic similarity with chronic constrictive pericarditis. Autonomic dysfunction has been described in the latter. METHODS AND RESULTS: Autonomic function analysis has not been reported in restrictive cardiomyopathy. Six consecutive patients with restrictive cardiomyopathy were included in this study (5 men, 1 woman, mean age 35+/-5.4 years). The tests performed were designed to test the sympathetic efferent pathway, that is, by cold hand immersion and loud noise tests, parasympathetic efferent pathway by Valsalva ratio and expiration/inspiration ratio and the baroreceptor function by testing their sensitivity slope. The results were compared with 20 patients with chronic constrictive pericarditis and with 10 healthy age- and sex-matched control subjects previously studied. The rise of systolic blood pressure after cold hand immersion and sudden loud noise was not significantly different compared with control subjects. The expiration/inspiration ratio was 1.1+/-0.01 compared with 1.57+/-0.1 in the control group (p < 0.01). The Valsalva ratio was significantly lower (1.1+/-0.04) compared with control subjects (1.83+/-0.1, p < 0.01). The baroreceptor sensitivity was not reduced compared with that in control subjects. In comparison to constrictive pericarditis, sympathetic efferent pathway is preserved in restrictive cardiomyopathy (p < 0.0001). The parasympathetic efferent pathway is borderline abnormal in restrictive cardiomyopathy but not significantly as compared with constrictive pericarditis (p=not significant). The baroreceptor sensitivity slope is normal in patients with restrictive cardiomyopathy as compared with significant depression seen in constrictive pericarditis (p < 0.05). Autonomic functions are better preserved in patients with restrictive cardiomyopathies compared with chronic constrictive pericarditis. CONCLUSIONS: Autonomic dysfunction is localized to parasympathetic efferent pathway. This is in comparison to constrictive pericarditis, in which severe autonomic dysfunction is a universal feature and includes all segments of autonomic nervous system.

Adolescent↗