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 469 records · Page 26Linked to original sources
PubMed2005

Cardiomyopathy in Swedish patients with the Gly53Glu and His88Arg transthyretin variants.

We report two new amyloidogenic transthyretin (TTR) variants detected in the Swedish population. One variant was previously unknown, while the other has been described in a French family. In Swedish patients, both variants have caused late-onset cardiac amyloidosis characterised by heart failure. In both cases, the diagnosis was determined by the detection of amyloid deposits in skin and/or rectal biopsies and identification of TTR mutations by genetic analysis. The index case of the previously unknown mutation (ATTR His88Arg) was a 66-year-old Swedish man, who sought medical attention for increasing dyspnea. Echocardiographic examination disclosed a restrictive cardiomyopathy, and subsequent examinations disclosed TTR amyloidosis. The patient is alive with moderate symptoms one year after the onset of disease. The index case for the new Swedish mutation (ATTR Gly53Glu) is a woman who sought medical attention at the age of 57 because of increasing dyspnea. Echocardiographic examination disclosed a hypertrophic cardiomyopathy with diastolic impairment. The diagnosis of systemic amyloidosis was made by fat aspiration biopsy and histopathology. The patient developed severe intractable heart failure, with pulmonary effusion and ascites. She died four years after the onset of her disease of intractable heart and kidney failure. Post mortem examination of biopsy specimens and blood revealed TTR amyloid deposits and the ATTR Gly53Glu mutation was detected.

Adipose Tissue↗
PubMed2002

The role of endomyocardial biopsy in the diagnosis of cardiomyopathies.

Though many publications in the field of myocarditis and cardiomyopathies have renewed interest in the value of endomyocardial biopsy, its role in the work-up of patients with cardiomyopathies, idiopathic arrhythmias and even ischemic heart disease, is still debated. Since its introduction in 1963 the technique has been developed with current routine use of a biventricular and even atrial approach. At the same time immunohistochemistry and molecular biology studies have greatly enhanced the information obtainable from myocardial samples. The authors report their experience and briefly review the pertinent literature on the current use of endomyocardial biopsy in the diagnosis and treatment of dilated, hypertrophic and restrictive cardiomyopathy, of idiopathic arrhythmias and in ischemic heart disease.

Arrhythmias, Cardiac↗
PubMed2006

Genetic engineering and therapy for inherited and acquired cardiomyopathies.

The cardiac myofilaments consist of a highly ordered assembly of proteins that collectively generate force in a calcium-dependent manner. Defects in myofilament function and its regulation have been implicated in various forms of acquired and inherited human heart disease. For example, during cardiac ischemia, cardiac myocyte contractile performance is dramatically downregulated due in part to a reduced sensitivity of the myofilaments to calcium under acidic pH conditions. Over the last several years, the thin filament regulatory protein, troponin I, has been identified as an important mediator of this response. Mutations in troponin I and other sarcomere genes are also linked to several distinct inherited cardiomyopathic phenotypes, including hypertrophic, dilated, and restrictive cardiomyopathies. With the cardiac sarcomere emerging as a central player for such a diverse array of human heart diseases, genetic-based strategies that target the myofilament will likely have broad therapeutic potential. The development of safe vector systems for efficient gene delivery will be a critical hurdle to overcome before these types of therapies can be successfully applied. Nonetheless, studies focusing on the principles of acute genetic engineering of the sarcomere hold value as they lay the essential foundation on which to build potential gene-based therapies for heart disease.

Acidosis↗
PubMed2006

Isolated ventricular non-compaction: clinical study and genetic review.

Isolated non-compaction of the ventricular myocardium (INVM), sometimes referred to as 'spongy myocardium', is a congenital and exceedingly rare cardiomyopathy. Isolated ventricular non-compaction occurs in the absence of other structural heart diseases and, hypothetically, it is due to the arrest of myocardial morphogenesis. Isolated non-compaction of the ventricular myocardium may manifest itself from infancy to young adulthood with a high mortality rate. Both sexes are affected. In our study, we present a case of INVM (left and right ventricles) in a 3-year-old girl, diagnosed by two-dimensional echocardiography. The anomaly presented as a restrictive cardiomyopathy. The girl was admitted to our hospital with heart failure, when she was 10 months old. She was treated with dopamine, digoxin, furosemide, spironolactone, and acenocoumarol and her condition improved. Presently, the girl remains asymptomatic and for 3 years of follow-up, her development has been almost normal. We here describe the genetic background of this disorder (based on a literature review).

Acyltransferases↗
PubMed1993

[Cardiopathy due to therapeutic irradiation of the thorax. The diagnostic criteria].

Between January 1, 1985 and June 30, 1992, 37 patients (25 women and 12 men, aged 13-65 years) who had undergone a radiation treatment to the anterior chest and mediastinum, were admitted to our Institution for cardiac evaluation, which included left and right heart catheterisation in all, but 3 patients. Seventeen had signs or symptoms of ischaemic heart disease, in 8 a pericardial disease was suspected, 5 had a complete heart block, 4 were in congestive heart failure caused by valvular dysfunction, and 3 had a dilated, hypokinetic left ventricle. Diagnostic criteria in these patients were as follows. Stenoses of the coronary ostia were always considered to be caused by radiation damage, in the absence of coronary risk factors. Obstructions of other coronary segments were taken to be of X-ray origin only when accompanied by damage to other cardiac structures. Pericardial lesions were always reckoned to be of X-ray origin in the absence of other recognisable causes. The same held true for aortic stenosis or insufficiency of any degree and for mitral insufficiency > or = 3+. Cases of complete heart block were diagnosed according to Slama's criteria. A restrictive cardiomyopathy was recognised only in patients operated on for pericardiectomy, in whom clinical or haemodynamic signs of "constriction" persisted after the operation, or extensive subendocardial fibrosis was found at biopsy. According to the above-mentioned criteria, it was established that radiation therapy was the cause of the cardiac problems in 19 cases: 4 with ischaemic symptoms, 8 with pericardial disease, 4 with complete atrioventricular block, and 3 with valvular disease and congestive heart failure. Coronary ostial lesions were found in all patients with angina, and in 8 of the 14 patients without angina (in 1 the coronary arteries were not investigated), and were critical in 4. Eleven patients were operated on. A myocardial revascularisation was performed in 7 cases, a pericardiectomy in 6, a valve replacement or repair was done in 4. A combined procedure was performed in 4 instances. A pacemaker was implanted in 3 cases, 2 patients had a pericardial drainage, and 3 patients continued their medical treatment. Of the 11 operated patients, 1 died at surgery, in refractory cardiac failure, from what was suspected to be a restrictive disease (normal preoperative left ventricular volume and ejection fraction, extensive myocardial fibrosis at autopsy).(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗
PubMed1998

New transthyretin variants SER 91 and SER 116 associated with familial amyloidotic polyneuropathy. Mutations in brief no. 151. Online.

Mutations of the transthyretin (TTR) gene are associated with familial amyloidotic polyneuropathy (FAP). Two new mutations were detected in French patients with TTR amyloidosis. The first patient was a 72 year old man who presented with severe and rapidly evolving sensory motor polyneuropathy of the 4 limbs, a bilateral carpal tunnel syndrome and a restrictive cardiomyopathy. His father died after a clinical history suggestive in retrospect of TTR amyloidosis. The second patient was a 75 year old man who presented with axonal sensory neuropathy of the 4 limbs and a bilateral carpal tunnel syndrome. In both cases immunohistochemistry performed on a nerve biopsy reveled TTR positive amyloid. Direct genomic sequencing of the full TTR gene coding region indicated two heterozygous transversions encoding Ser for Ala 91 substitution in the third exon of the gene in patient 1 and Ser for Tyr 116 substitution in the fourth exon of the gene in patient 2. The mutations were confirmed by digesting PCR products with restriction enzymes and were not found in a control population of 100 unrelated individuals. The Ser 116 substitution was also detected in the daughter and the 70 year old sister of the proband. However the absence of symptomatology suggestive of TTR amyloidosis may be related to the late onset of the disease. The clinical immunohistochemical and molecular studies in both patients are highly suggestive of an association between the Ser 91 and Ser 116 TTR variants with amyloidosis.

Aged↗
PubMed1994

[Radiation-induced constrictive pericarditis. Associated cardiac lesions, therapy and follow-up].

OBJECTIVES: To evaluate the diagnostic and therapeutic problems that occur in managing patients with radiation-induced constrictive pericarditis. BACKGROUND: Radiation therapy of the chest and mediastinum can damage all cardiac structures, the pericardium being the most frequently involved one. It is little appreciated, however, that radiation-induced constrictive pericarditis can be associated with significant involvement of coronary arteries, myocardium and valves. METHODS: Retrospective evaluation of clinical, hemodynamic, surgical and postoperative data in 8 patients, (7 women, 1 man, aged 26-67 years, mean 44), who had received 30-50 Gy to the chest because of Hodgkin's disease, lymphoma, or breast cancer 7-23 years before the diagnosis of constrictive pericarditis. RESULTS: Six patients had symptoms related to the pericardial disease, one had angina and syncope, one was in congestive heart failure. Hemodynamic signs of constriction were obvious in 6, and were revealed by volume load in 2. All patients had mitral regurgitation, 5 had also tricuspid insufficiency and 5 had aortic regurgitation. The degree of the valvular regurgitation was > or = 3+ in four instances. Critical coronary arterial stenoses were discovered in 3 cases. The coronary ostia were involved in 5 cases (2 critical, 3 non critical). A diagnosis of restrictive cardiomyopathy was arrived at in 4 instances, always after pericardiectomy. Seven patients were operated on: there were 6 pericardiectomies, associated with either valvular surgery or myocardial revascularization or both in 3. One patient underwent myocardial revascularization only. The remaining patient is being treated medically. One patient died at surgery, two died 16 and 72 months thereafter. The remaining 5 have mild symptoms 11-60 months (mean 29) after the discharge from the hospital. CONCLUSIONS: Radiation-induced pericardial constriction is frequently associated with coronary artery disease, mostly silent, with valvular insufficiency, and with myocardial disease. Thorough cardiac evaluation in such patients is mandatory. Surgical treatment frequently uncovers an underlying restrictive myopathy that presents a serious diagnostic and therapeutic challenge.

Adult↗
PubMed2000

Diastolic heart failure.

Primary diastolic failure is typically seen in patients with hypertensive or valvular heart disease as well as in hypertrophic or restrictive cardiomyopathy but can also occur in a variety of clinical disorders, especially tachycardia and ischemia. Diastolic dysfunction has a particularly high prevalence in elderly patients and is generally associated, with low mortality but high morbidity. The pathophysiology of diastolic dysfunction includes delayed relaxation, impaired LV filling and/or increased stiffness. These conditions result typically in an upward displacement of the diastolic pressure-volume relationship with increased end-diastolic, left atrial and pulmo-capillary wedge pressure leading to symptoms of pulmonary congestion. Diagnosis of diastolic heart failure requires three conditions: (1) presence of signs or symptoms of heart failure; (2) presence of normal or slightly reduced LV ejection fraction (EF > 50%) and (3) presence of increased diastolic filling pressure. Assessment of diastolic function can be performed with several non-invasive (2D- and Doppler-echocardiography, color Doppler M-mode, Doppler tissue imaging, MR-myocardial tagging, radionuclide ventriculography) and invasive techniques (micromanometry, angiography, conductance method). Doppler-echocardiography is the most useful tool to routinely measure diastolic function. Different techniques can be used alone or in combination to assess LV diastolic function, but most of them are dependent on heart rate, pre- and afterload. The transmitral flow pattern remains the starting point, since it is easy to acquire and rapidly categorizes patients into normal (E > A), delayed relaxation (E < A), and restrictive (E >> A) filling patterns. Invasive assessment of diastolic function allows determination of the time constant of relaxation from the exponential pressure decay during isovolumic relaxation, and the evaluation of the passive elastic properties from the slope of the diastolic pressure-volume (= constant of chamber stiffness) and stress-strain relationship (= constant of myocardial stiffness). The prognosis of diastolic heart failure is usually better than for systolic dysfunction. Diastolic heart failure is associated with a lower annual mortality rate of approximately 8% as compared to annual mortality of 19% in heart failure with systolic dysfunction, however, morbidity rate can be substantial. Thus, diastolic heart failure is an important clinical disorder mainly seen in the elderly patients with hypertensive heart disease. Early recognition and appropriate therapy of diastolic dysfunction is advisable to prevent further progression to diastolic heart failure and death. There is no specific therapy to improve LV diastolic function directly. Medical therapy of diastolic dysfunction is often empirical and lacks clear-cut pathophysiologic concepts. Nevertheless, there is growing evidence that calcium channel blockers, beta-blockers, ACE-inhibitors and AT2-blockers as well as nitric oxide donors can be beneficial. Treatment of the underlying disease is currently the most important therapeutic approach.

Cardiac Catheterization↗
PubMed2000

Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel hot spot' in codon 47.

Transthyretin gene mutations are associated with autosomal dominant familial amyloidosis. The commonest phenotype in the patients is peripheral neuropathy, but restrictive cardiomyopathy is also a frequent sign. More than 70 different mutations in the gene have been described. Although these mutations are randomly distributed, some hot spots have also been reported notably at position 6, 30, 33, 58, 109, 119 and 122. A few of these codons contain a CpG dinucleotide. We describe an additional 'hot spot' occurring at codon 47, in which we report one novel and two previously described mutations. This codon, however, does not contain a CpG dinucleotide, suggesting that other mechanisms might be responsible for the allelic heterogeneity. All the reported mutations in codon 47 are located in the exon 2 consensus sequence and are potentially involved in splicing. We performed transcription analysis on two livers obtained from transplanted patients carrying the Ala47 mutation. These livers showed a normally spliced message, indicating that this mutation does not affect splicing.

Adolescent↗
PubMed2000

Usefulness of echocardiography and doppler echocardiography in endomyocardial fibrosis.

OBJECTIVE: Our goal was to demonstrate the usefulness of echocardiography and cardiac Doppler echocardiography (echo-Doppler) in the diagnosis of endomyocardial fibrosis, an unusual restrictive cardiomyopathy in Argentina. METHODS: Between 1980 and 1998, we studied 10 women (aged 27 to 58 years) with endomyocardial fibrosis confirmed by surgery and/or endomyocardial biopsy. Of the 10 cases of endomyocardial fibrothrombosis, 8 were biventricular and 2 were left ventricular. Six patients had only an echocardiographic study, and the last 4 patients (after 1987) had an echo-Doppler study also; 3 had a transesophageal echocardiography examination as well. Seven patients had grade III-IV dyspnea, 2 had an edematous-ascitic syndrome, and 1 had right heart failure at the first examination. Four patients died of heart failure and 1 of overimposed sepsis. Surgery was successful in 2 patients with the biventricular form of the disease. In one of them, fibrotic decortication was performed in both ventricles together with tricuspid and mitral replacement. In the other, the right side was not surgically treated because of its mild engagement. One patient was lost to follow-up, and 3 patients are awaiting surgery at this writing. RESULTS: In all 10 patients, echocardiography was the first diagnostic tool used. In M-mode echocardiography, the typical image showed the "square root" sign in the septum and posterior wall in addition to the "merlon" sign, characterized by a hypercontractile basal ventricle opposing an obliterated apex. In 2-dimensional echocardiography, inversion of the normal sized heart with obliterated ventricles and dilated atria were seen in the whole group. In 1 patient, the fibrous thrombus was limited to the apex of the right ventricle (Shaper's type 1) in a biventricular form, whereas in the left side of this patient and in the other 9 patients, the fibrous thrombus that initially occupied the apex engaged the posterior papillary muscle, pulling the posterior valve downward (Shaper's type 2) and generating tricuspid and/or mitral regurgitation that was always mild or moderate. The fibrous thrombus never altered the movement of the underlying myocardium. There were hypoechoic and hyperdense echoes inside the fibrotic material (the latter compatible with calcium), and in all 10 patients, different grades of pericardial effusion were found. Echo-Doppler showed the same minimal percentage of change in mitral and tricuspid velocities as found in healthy patients, which clearly differentiates endomyocardial fibrosis from constrictive pericarditis. Furthermore, a restrictive pattern was observed on both atrioventricular valves when both sides were engaged with a markedly short tricuspid deceleration time. Pulmonary veins showed a markedly diastolic D wave and a broad reversal A wave (the latter presented a low velocity when the wall of the left atrium was diseased) caused by an increased end-diastolic left ventricular pressure to the same extent throughout the respiratory cycle. Hepatic veins showed a markedly deep diastolic forward wave throughout the respiratory cycle and a marked reversal with inspiration. CONCLUSIONS: We showed (1) echocardiographic studies of a significant number of patients with this unusual disease, (2) the characteristic diagnostic signs in M-mode and 2-dimensional echocardiography, and (3) the common echo-Doppler patterns shared by all subjects studied with this technique.

Adult↗
PubMed1998

Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis.

We report on the genetic and molecular characterisation of an Italian family with a late-onset, autosomal dominant transthyretin amyloidosis. The transthyretin gene was analysed by polymerase chain reaction (PCR), restriction generating PCR, and sequencing, allowing us to discover in one allele a novel point mutation. It consists of a G to C transversion at position 1692 of the genomic sequence, leading to a Thr for Arg substitution at the position 34 of the polypeptidic chain. This mutation is associated with a severe sensory-motor peripheral neuropathy and a restrictive cardiomyopathy.

Aged↗
PubMed1998

Transthyretin Tyr77 familial amyloid polyneuropathy: a clinicopathological study of a large kindred.

More than 40 point mutations (producing different clinical manifestations) have been described in diverse points of the plasma protein transthyretin (TTR). The Met30 is considered the most common mutation, the Tyr77 mutation being the second most prevalent. However, data from patients with this late mutation are scarce, and usually come from isolated case reports or tables. The Tyr77 mutation is not as well characterized as the Met30 mutation, especially with respect to such aspects as prognosis or possible treatment by liver transplantation. We therefore present the clinical and pathological features of an extensive family with the Tyr77 TTR mutation, comprising 12 affected individuals over four generations. Six living individuals were followed over a 10-year period. Retrospective data were obtained with regard to the deceased family members. We found that an initial and sometimes prolonged carpal tunnel syndrome, beginning between the 6th and 7th decades, characterizes the Tyr77 mutation. In most cases this evolved to generalized peripheral nerve involvement, restrictive cardiomyopathy, and intestinal malabsortion. Although survival is usually high, there are progressive cases that should be candidates for liver transplant, before severe impairment has developed.

Aged↗
PubMed1984

Hemodynamic profile of constrictive pericarditis produced by a massive right pleural effusion.

We report a 29-year-old female who presented with thyrotoxicosis and a massive right pleural effusion. Cardiac catheterization in the presence of the effusion revealed equalization of abnormally elevated right and left heart filling pressures. Repeat study after thoracentesis demonstrated normal intracardiac pressures, which were unchanged by volume loading with normal saline. This case report suggests that both extrinsic cardiac chamber compression produced by the large unilateral effusion and ventricular interdependence altered diastolic function of the right and left ventricle in a manner resembling constrictive pericarditis or restrictive cardiomyopathy.

Adult↗
PubMed1986

Eosinophilic endomyocardiopathy.

A young patient with a severely elevated eosinophil count died from manifestations of severe eosinophilic endomyocardiopathy. Echocardiographic and hemodynamic evaluation were diagnostic of a rapidly progressive restrictive cardiomyopathy. Progression of cardiac disease in the face of medical treatment is an ominous sign and may argue for earlier surgical intervention in this syndrome.

Adult↗
PubMed1994

Familial cardiac and skeletal myopathy associated with desmin accumulation.

We describe the case of a mentally retarded young man with marked biventricular hypertrophy, skeletal myopathy, and bilateral pes cavus, in whom desmin accumulation was documented in cardiac and skeletal muscle biopsies. Hemodynamic assessment showed a restrictive profile. A brother of the proband was similarly affected and died at the age of 24 of cardiac failure. Sudden death occurred in other six members of this family. Pedigree analysis suggested an X-linked inheritance. This observation and previous reports suggest that desmin accumulation is probably less rare than was thought in patients with unexplained hypertrophic or restrictive cardiomyopathies. Desmin accumulation should be systematically searched for in these types of cardiomyopathies, although its specificity needs to be investigated in further studies.

Adult↗
PubMed1995

Pulmonary venous flow in constrictive pericarditis.

A 35-year-old white female patient presented with radiation-induced constrictive pericarditis. Intraoperative transesophageal echocardiography revealed a uniphasic diastolic flow pattern. This pulmonary flow pattern reverted to a normal biphasic systolic/diastolic profile immediately following radical pericardiectomy. This abnormal flow pattern was previously described as typical for restrictive cardiomyopathy. However, in this case it is most likely due to a marked decrease in left atrial compliance induced by the thick fibrous scar encasing the atrial.

Adult↗
PubMed2005

Real-time cine MRI of ventricular septal motion: a novel approach to assess ventricular coupling.

The purpose of this study was to assess the feasibility of magnetic resonance imaging (MRI) to evaluate in real-time, the effects of respiration in ventricular septal motion and configuration in normal volunteers and cardiac patients. Real-time cine MRI studies, using the steady-state free precession (SSFP) technique, were performed in the cardiac short-axis during operator-guided deep inspiration and expiration in normal volunteers (N = 6), and in patients with constrictive pericarditis (CP; N = 6), restrictive cardiomyopathy (RCM; N = 4), chronic cor pulmonale (N = 5), and pericardial effusion. The respiratory effects on septal position and configuration during early ventricular filling were visually assessed. Results were compared with the short-axis breath-hold cine MRI studies, obtained at end-inspiration. In CP patients, onset of inspiration led to a leftward inversion in four of six patients and flattening of the septum in two of six patients during early ventricular filling. Septal abnormalities progressively disappeared during the following heartbeats. A similar pattern was found in one of six patients with pericardial effusion. The above pattern was absent in RCM patients. Although septal flattening during early inspiration was also found in two of six normal volunteers, flattening was minimal compared to that in CP patients. In all cor pulmonale patients, septal flattening or inversion was present, but this was not influenced by respiratory motion. Real-time cine MRI is a promising technique for determining the influence of respiration on septal motion and might be helpful in differentiating between different causes of impaired ventricular filling.

Adult↗
PubMed2006

Targeted suppression of an amyloidogenic transthyretin with antisense oligonucleotides.

Transthyretin (TTR) amyloidosis, the most common form of hereditary systemic amyloidosis, is characterized clinically by adult-onset axonal neuropathy and restrictive cardiomyopathy. More than 85 mutations in transthyretin have been found to cause this hereditary disease. Since essentially all circulating TTR is of hepatic origin, orthotopic liver transplantation has been used as the only specific form of therapy. Unfortunately, in many patients amyloid deposition continues after orthotopic liver transplantation, indicating that mutant TTR is no longer required for progression of the disease after tissue deposits have been initiated. As a first step toward medical treatment of this disease, we have employed antisense oligonucleotides (ASOs) to inhibit hepatic expression of TTR. A transgenic mouse model carrying the human TTR Ile84Ser mutation was created and shown to express high levels of human mutant transthyretin. TTR ASOs suppressed hepatic TTR mRNA levels and serum TTR levels by as much as 80%. Suppression of hepatic synthesis of transthyretin may offer a medical treatment for transthyretin systemic amyloidosis.

Alanine Transaminase↗