PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “Cardiomyopathy, Restrictive”

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
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↗
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↗
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↗
PubMed1992

Controversial issues in restrictive cardiomyopathy.

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.

Biopsy↗
PubMed1991

Acute hemodynamic effects of captopril in children with a congestive or restrictive cardiomyopathy.

The acute hemodynamic effects of captopril were evaluated at cardiac catheterization in 16 children (age, 0.3-18 years) with cardiomyopathy. Twelve children had congestive cardiomyopathy, whereas four had restrictive cardiomyopathy. Hemodynamic measurements were obtained 30 and 60 minutes after the oral administration of captopril (0.5 mg/kg). Blood pressures were measured in the aorta, pulmonary artery, right atrium, and pulmonary capillary wedge position; cardiac outputs were measured by the thermodilution technique. Hemodynamic data could not be obtained after the administration of captopril in one child with congestive cardiomyopathy because of an immediate, severe hypotensive response. In 11 of 12 children with congestive cardiomyopathy, cardiac index increased by 22%, from 2.3 to 2.8 l/min/m2 (p less than 0.05), and stroke volume increased by 22%, from 23 to 28 ml/m2 (p less than 0.05). Systemic vascular resistance decreased from 32 to 21 units.m2 (p less than 0.01), but the mean aortic pressure did not change significantly. In contrast, four children with restrictive cardiomyopathy had no change in cardiac output after captopril, but there was a trend toward significant arterial hypotension (mean aortic pressure decreased from 78 to 59 mm Hg). Thus, captopril acutely reduced systemic vascular resistance and increased both cardiac output and stroke volume in children with congestive cardiomyopathy. In children with restrictive cardiomyopathy, however, captopril did not affect cardiac output, but it did decrease aortic pressure. These data indicate that captopril may benefit children with a congestive cardiomyopathy but that captopril probably should not be used in children with restrictive disease.

Captopril↗
PubMed1990

An atypical case of cardiomyopathy in a child: hypertrophic or restrictive cardiomyopathy?

A case of an atypical form of cardiomyopathy, in which biopsy showed bizarre myocardial hypertrophy with disorganization, and in which there was no obvious hypertrophy of the interventricular septum and left ventricular free wall, is presented. Ventricular filling was critically impaired, and consequently pulmonary and systemic venous congestion predominated in the clinical presentation which was similar to that of restrictive cardiomyopathy.

Biopsy↗
PubMed1991

Primary restrictive cardiomyopathy: clinical and pathologic characteristics.

Twenty-four patients with restrictive cardiomyopathy were identified at St. Thomas' Hospital during a 17-year period. All had endomyocardial biopsy, but in two patients the biopsy specimens were small and nondiagnostic. Seven patients had amyloidosis and five had other specific heart muscle diseases. The remaining 10 patients with primary restrictive cardiomyopathy had myocyte hypertrophy or interstitial fibrosis, or both. Patients with primary restrictive cardiomyopathy presented earlier but survived longer after presentation than did those with amyloidosis. In each group, survival after cardiac catheterization was related to cardiac index but not to filling pressures. Primary restrictive cardiomyopathy was associated with complete heart block in four patients, two of whom had skeletal myopathy. One had a family history of dominantly inherited skeletal myopathy. Primary restrictive cardiomyopathy was present in a mother and daughter. Two other patients had a family history of heart failure, sudden death or complete heart block, alone or in combination, at a young age. Restrictive hemodynamics and complete heart block were present in patients even in the absence of significant fibrosis. The data suggest that primary restrictive cardiomyopathy may be a distinct myopathy with dominant inheritance and incomplete penetrance that is expressed morphologically as myocyte hypertrophy and interstitial fibrosis. Skeletal myopathy may be associated with the cardiomyopathy.

Adolescent↗
PubMed1990

The differentiation of restrictive cardiomyopathy from constrictive pericarditis.

The differentiation of restrictive cardiomyopathy from pericardial constriction remains a difficult clinical problem. Although the historical, noninvasive, and hemodynamic and angiographic features discussed here provide poor discriminating value when considered individually, a combination of clues may suggest one diagnosis or the other. Endomyocardial biopsy affords the greatest hope of avoiding unnecessary surgical exploration. Thoracotomy continues, however, to be the gold standard by which to make the distinction, carrying with it significant risk in patients with underlying restrictive cardiomyopathy.

Biopsy↗
PubMed1989

[Idiopathic restrictive cardiomyopathy: clinical, hemodynamic, histologic and prognostic profile].

Idiopathic restrictive cardiomyopathy is a rare myocardial disease characterized by restrictive physiology without a specific histologic basis. To assess its clinical, hemodynamic, morphologic and prognostic details we retrospectively evaluated all the patients hospitalized in our Institute from 1974 to 1988. Nine patients, aged 42 +/- 16 years, M/F ratio = 0.29, who represent 64% of all the restrictive myocardial diseases biopsied were identified. Severe cardiac heart failure (3-4 NYHA) and arrhythmias (ventricular and supraventricular) were extremely common. The electrocardiogram showed several non specific signs: low voltage of QRS in peripheral leads (4/7), pseudo-infarctional aspects (3/7), mono or biventricular hypertrophy (3/7) disturbance of ventricular conduction (3/7), aspecific abnormalities of ventricular repolarization (3/7). All patients showed a prolonged QTc. M-mode and 2-dimensional echocardiography demonstrated in 6 cases biatrial enlargement, normal or slightly enlarged ventricles, normal or moderately depressed fractional shortening; biventricular concentric hypertrophy was detected in 3 cases, asymmetrical septal hypertrophy in 1. Five patients showed pericardial effusion. Cardiac catheterization disclosed an increase of left and right ventricular end-diastolic pressures (8/8) with a dip-plateau pattern and/or characteristic W waveform in the atrial pressure tracing (9/9). Passive pulmonary hypertension was detected in 6/9 cases. The cardiac index was decreased in 4/8 cases. Left ventricular angiography showed mitral regurgitation in 5/8 patients, tricuspidal in 5/8. Ejection fraction was decreased in 3/8 cases. Endomyocardial biopsy showed interstitial fibrosis (8/9), cellular hypertrophy and/or nuclear alterations (7/9), slight endocardial thickening (2/9). At a mean follow-up of 22 +/- 15 months 3 patients died and 2 underwent heart transplantation. In conclusion idiopathic restrictive cardiomyopathy is one of the most frequent forms of restrictive myocardial diseases in our geographic area. Severe congestive heart failure and arrhythmias are extremely common. The disease can be suspected by clinical, electrocardiographic and echocardiographic features, but the final diagnosis requires cardiac catheterization and endomyocardial biopsy. Prognosis is severe and heart transplantation must be considered in the cases with severe heart failure.

Adolescent↗
PubMed1976

Usefulness of systolic time intervals in differential diagnosis of constrictive pericarditis and restrictive cardiomyopathy.

Systolic time intervals in 15 patients with constrictive pericarditis and seven patients with restrictive cardiomyopathy were compared in order to assess their value in the differential diagnosis of the two disorders. Clinical examination had failed to make the distinction. Right heart catheterization was helpful in diagnosing restriction but failed to differentiate patients with constrictive pericarditis from those with restrictive cardiomyopathy. The systolic time intervals clearly separated the two groups. The PEP/LVET was normal in all patients with constrictive pericarditis (0.34 +/- 0.01) and abnormal in all patients with restrictive cardiomyopathy (0.70 +/- 0.09, P less than 0.001). In 13 patients (five with restrictive cardiomyopathy and eight with constrictive pericarditis) the results of quantitative left ventricular angiocardiography were available. A high correlation (r=-0.90, P less than 0.01) between the PEP/LVET and the ejection fraction confirmed the validity of the PEP/LVET as a measure of left ventricular performance in these patients. Thus the systolic time intervals clearly distinguished between constrictive pericarditis and restrictive cardiomyopathy and are a reliable non-invasive technique for making the difficult differential diagnosis.

Adult↗
PubMed1991

Progressive restrictive cardiomyopathy--a case report.

We present a case of restrictive cardiomyopathy which progressed over a 10 month period. A 69-year-old female was admitted because of acute inferior myocardial infarction; hemodynamically, she was in Forrester subset I. Cardiac catheterization performed 4 weeks post-infarction showed markedly increased left ventricular end-diastolic and pulmonary wedge pressures. Left ventricular ejection fraction was 66% with postero-basal akinesis and minimal mitral regurgitation. The right coronary artery was completely occluded with good collateral circulation from the intact left coronary artery. Doppler echocardiography 4 weeks post-infarction showed pseudo-normalization of the A/E ratio of peak mitral flow velocity in atrial systole (A) to peak mitral flow velocity in early diastole (E). Preload reduction by nitroglycerin increased the A wave. Ten months post-infarction, the patient was re-admitted due to congestive heart failure. The A/E ratio was unchanged, however the A wave no longer increased after the same dose of nitroglycerin. We have hypothesized that dehydration and/or the vigorous use of a nitrate, in the acute phase of myocardial infarction, masked an underlying restrictive cardiomyopathy which progressed in the 10 months post-infarction.

Blood Flow Velocity↗
PubMed1992

Clinical profile and outcome of restrictive cardiomyopathy in children.

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.

Cardiac Catheterization↗
PubMed1990

Idiopathic restrictive cardiomyopathy in the young: report of two cases.

Two cases of idiopathic restrictive cardiomyopathy in young age are reported. This rare kind of restrictive cardiomyopathy is characterized by the absence of specific histologic features of myocardial abnormalities. In both cases (aged 12 and 9 years at diagnosis), the clinical picture was characterized by severe and slowly progressive congestive heart failure. The electrocardiogram showed biventricular hypertrophy, right bundle branch block and pseudoinfarctional Q waves. Echocardiography revealed moderate pericardial effusion, biatrial enlargement, and normal or nearly normal biventricular dimensions and systolic function. Cardiac catheterization disclosed the typically restrictive filling pattern. Right ventricular endomyocardial biopsy demonstrated moderate interstitial fibrosis and cellular hypertrophy without any evidence of infiltrative or storage myocardial disease or endocardial pathology. One patient underwent cardiac transplantation, whereas in the other, transplantation was contraindicated because of longstanding pulmonary hypertension and liver cirrhosis. The knowledge of this rare entity may correctly orient the diagnostic process in children suspected of having restrictive myocardial disease. Heart, or even heart-lung, transplantation must be considered in cases with congestive heart failure before irreversible damage occurs in many organs.

Adult↗
PubMed1976

Cardiac amyloidosis, contrictive pericarditis and restrictive cardiomyopathy.

Cardiac amyloidosis is not characterized by a single hemodynamic pattern. Some of the cases present the clinical findings of restrictive cardiomyopathy and in these differentiation from constrictive pericarditis remains difficult in spite of the introduction of techniques designed to assess myocardial contractility and ventricular diastolic compliance. The clinical features and the demonstration of left ventricular diastolic pressure greater than right remain the most useful means of distinguishing restrictive cardiomyopathy from constrictive pericarditis. In other cases of cardiac amyloidosis the diastolic pressure is elevated throughout diastole and ventricular ejectile ability is lost. These cases do not simulate constrictive pericarditis and should not be classified as restrictive cardiomyopathy.

Amyloidosis↗
PubMed1990

Spectrum of restrictive cardiomyopathy: report of the national survey in Japan.

This report describes clinical profiles and echocardiographic, hemodynamic, and histologic findings in 26 cases of idiopathic RCM based on the diagnostic criteria of (1) heart failure resulting from a stiff left ventricle, (2) normal LV size and systolic function, (3) absence of LV hypertrophy, and (4) cause or association unknown. There were 14 male and 12 female patients ranging in age from 5 to 63 years. Ten patients died during the mean follow-up period of 145 months, and five died of heart failure after 10 years. Three had a family history of HCM. Thromboembolism was observed in eight. Echocardiograms showed normal LV wall thickness and contraction. Hemodynamic characteristics included elevated biventricular filling pressures and a pulmonary wedge pressure that was usually higher than the right atrial pressure. Equalization of biventricular filling pressures was seen, however, in almost all patients with severe tricuspid regurgitation (seven of eight). The square root sign was seen in 50% in RV diastolic pressure tracings and 28% in LV tracings. This sign was observed in patients with elevated filling pressures. Interstitial fibrosis (22 of 23), endocardial thickening (13 of 23), and myofibrillar hypertrophy (10 of 23) were common histologic findings. Severe myocardial fiber disarray consistent with HCM was seen in four patients.

Adolescent↗