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PubMed2004

Cardiomyocyte-restricted peroxisome proliferator-activated receptor-delta deletion perturbs myocardial fatty acid oxidation and leads to cardiomyopathy.

Fatty acid oxidation (FAO) is a primary energy source for meeting the heart's energy requirements. Peroxisome proliferator-activated receptor-delta (PPAR-delta) may have important roles in FAO. But it remains unclear whether PPAR-delta is required for maintaining basal myocardial FAO. We show that cre-loxP-mediated cardiomyocyte-restricted deletion of PPAR-delta in mice downregulates constitutive expression of key FAO genes and decreases basal myocardial FAO. These mice have cardiac dysfunction, progressive myocardial lipid accumulation, cardiac hypertrophy and congestive heart failure with reduced survival. Thus, chronic myocardial PPAR-delta deficiency leads to lipotoxic cardiomyopathy. Together, our data show that PPAR-delta is a crucial determinant of constitutive myocardial FAO and is necessary to maintain energy balance and normal cardiac function. We suggest that PPAR-delta is a potential therapeutic target in treating lipotoxic cardiomyopathy and other heart diseases.

AMP-Activated Protein Kinases↗
PubMed1994

Molecular basis of hypertrophic and dilated cardiomyopathy.

Hypertrophic cardiomyopathy is a heterogeneous disease with autosomal dominant Mendelian inheritance. In 1989, the 1st locus for hypertrophic cardiomyopathy was mapped to cardiac myosin genes located on chromosome 14q1. Soon, several mutations that cosegregated with inheritance of the disease were identified in the beta-myosin heavy chain gene, or MHY7. More than 30 missense mutations and 1 deletion mutation in the beta-myosin heavy chain gene have since been described. Recently, expression of both the mutant beta-myosin heavy chain mRNA and the mutant protein has been shown in the cardiac and skeletal muscles of individuals with hypertrophic cardiomyopathy. Characterization of the clinical features of beta-myosin heavy chain mutations has shown that certain mutations, such as Arg403Gln and Arg719Trp mutations, are associated with high rate of sudden cardiac death. In addition to the beta-myosin heavy chain gene, 3 new loci for hypertrophic cardiomyopathy have recently been described, but the candidate genes have not yet been identified. Dilated cardiomyopathy can be inherited as an autosomal dominant, autosomal recessive, and X-linked disease. The familial form of dilated cardiomyopathy comprises approximately 20% of the cases of idiopathic cardiomyopathy. Echocardiographic abnormalities such as left ventricular enlargement are present in 10% of asymptomatic relatives. No gene for familial dilated cardiomyopathy has been identified, but linkage studies using polymorphic, short-tandem repeat markers are ongoing. Dilated cardiomyopathy is a common manifestation of Duchenne/Becker muscular dystrophy. Heart failure is a common cause of death in the affected individuals. The gene responsible for this disease is the dystrophin gene located on X chromosome. There have been reports in these patients of several dystrophin-gene deletion mutations, which result in a decrease in the expression of the dystrophin protein in the cardiac and skeletal tissues. X-linked cardiomyopathy, in which the disease is restricted to the heart, has also been linked to the dystrophin gene. Myotonic dystrophy is an autosomal dominant disease that commonly involves the myocardium and the conduction tissue, resulting in conduction defects and heart failure. Sudden cardiac death is the most common cause of mortality in patients with myotonic dystrophy. Recently, the myotonin protein kinase gene located on chromosome 19 was identified as the gene responsible for this disease. Expansion of the number of trinucleotide repeats in the myotonin protein kinase gene results in myotonic dystrophy. Mutations in mitochondrial DNA have been associated with hypertrophic and dilated cardiomyopathy. The inheritance of mitochondrial cardiomyopathy is maternal and the disease is associated with certain systemic disorders.

Cardiomyopathy, Dilated↗
PubMed1994

Autoantibodies against cardiac G-protein-coupled receptors define different populations with cardiomyopathies but not with hypertension.

It was previously shown that the second extracellular loop of cardiovascular G-protein-coupled receptors is an antigenic target for pharmacologically active autoantibodies in patients with idiopathic dilated cardiomyopathy. To extend these observations to cover patients with the same disease from different geographical origins or to patients with other cardiac diseases, peptides corresponding to the sequences of the second extracellular loops of the human M2 muscarinic receptors and beta adrenoceptors were used as antigens in an enzyme immunoassay. Sera from patients from Sweden and Japan with idiopathic dilated cardiomyopathy (DCM, n = 32), hypertrophic cardiomyopathy (HCM, n = 23), malignant essential hypertension (MEH, n = 11), malignant secondary hypertension (MSH, n = 10), and sera from healthy blood donors (HBD, n = 49) were tested. Sera from patients with DCM recognized the muscarinic receptor peptide in 38% of cases and the beta 1 adrenoceptor peptide in 31% of cases. In 50% of the positive patients, autoantibodies against both peptides coexisted as shown by competition experiments using both peptides as inhibitors. In HCM patients, there was a lower frequency of autoantibodies but with a higher but not significant predominance against the M2 peptide. No autoantibodies were detected in sera from patients with MEH or MSH. Autoantibodies against the M2 muscarinic receptors, affinity-purified from positive patients, displayed pharmacological activity as demonstrated by changes in the affinity and number of radioligand binding sites. In contrast, antibodies purified from positive HBD had no effect. These results confirm that autoantibodies displaying pharmacological activity against G-protein-coupled cardiovascular receptors are mainly restricted to patients with idiopathic dilated cardiomyopathy and that different autoantibody populations are responsible for the recognition of the different receptors.

Adult↗
PubMed2004

Assessment of diastolic function in patients with hypertrophic cardiomyopathy by Doppler tissue imaging.

OBJECTIVE: To determine the clinical application of pulsed Doppler tissue imaging in assessing the left ventricular diastolic function and in discriminating between normal subjects and patients with hypertrophic cardiomyopathy with various stages of diastolic dysfunction. METHODS: We measured the peak diastolic velocities of mitral annulus in 81 patients with hypertrophic cardiomyopathy with various stages of diastolic dysfunction and 50 normal volunteers by Doppler tissue imaging using the apical window at 2-chamber and long apical views, respectively. The myocardial velocities were determined with use of variance F statistical analysis. RESULTS: Early diastolic myocardial velocities of mitral annulus were higher in normal subjects than in patients with hypertrophic cardiomyopathy with either delayed relaxation, pseudonormal filling, or restrictive filling. However, peak myocardial velocities of mitral annulus during atrial contraction were similar in normal subjects and patients with hypertrophic cardiomyopathy. CONCLUSION: Doppler tissue imaging can directly reflect upon left diastolic ventricular function. Early phase of diastole was the best discriminator between control subjects and patients with hypertrophic cardiomyopathy.

Adult↗
PubMedDate not supplied

Postmortem studies of the intertruncal plexus and cardiac conduction system from patients with Chagas disease who died suddenly.

Throughout the cardiac conduction system of each heart there were numerous destructive lesions including focal inflammatory infiltration with lymphocytes and in neighboring regions extensive focal fibrotic degeneration. These lesions involved myocytes, nerves and blood vessels. They were adequate explanation for the familiar disturbances in cardiac rhythm and conduction typical of Chagasic cardiomyopathy. In one heart there was a left ventricular apical aneurysm, which is often considered typical of Chagasic cardiomyopathy. To our surprise, virtually every myocyte in the region of the aneurysm was undergoing extensive dehiscence, thus severing all intercellular junctions of the involved myocytes. Therefore, we suggest that the left ventricular apical aneurysms represent a form of disuse atrophy produced by the sympathetic denervation caused by neuropathology in the intertruncal plexus of each heart. Sympathetic innervation of virtually the entire left ventricle is derived from nerves supplied through ganglia in the intertruncal plexus. The random nature of the neuropathology in the intertruncal plexus is the probable explanation of why some Chagasic hearts exhibit generalized Chagasic cardiomyopathy, while others have a more restricted denervation ending in left ventricular apical aneurysms. Perhaps the most intriguing finding in our study was the abundance of flagellated trypanosoma cruzi within the intertruncal plexus of each heart. The trypanosomes were often in clusters, sometimes encysted by a thin fibrous membrane, but more often in loose aggregates without a surrounding membrane. Some trypanosomes were seen boring into intertruncal nerves while others formed dense clusters of trypanosomes attached to the outer surface of an intertruncal vein. We believe that these observations have seldom, if ever, been described before, and they represent interesting opportunities in future diagnosis and treatment of cardiac disease caused by trypanosoma cruzi.

Aged↗
PubMed1999

Impaired response of the forearm resistance but not conductance vessels to reactive hyperemia in hypertrophic cardiomyopathy.

It has been suggested that in hypertrophic cardiomyopathy (HC), vascular abnormalities are not restricted to the heart. Flow-mediated dilation of peripheral conductance arteries (reflecting their endothelial function) has not yet been studied in HC. Our aim was to assess both flow-dependent dilation of the brachial artery and flow responses (dependent on resistance vessels) during forearm reactive hyperemia (RH) in nontreated HC patients. The authors studied 13 HC patients and 14 age- and sex-matched healthy controls. None of them exhibited any factors known to be associated with endothelial dysfunction. Using 7 MHz ultrasound, brachial artery diameter and Doppler flow velocity were measured continuously at baseline and throughout 1 min of RH following 5 min of forearm ischemia induced by inflation of a blood pressure cuff. Arterial diameter and RH flow are expressed as percent changes with respect to the baseline. Flow-dependent dilation was similar in the HC patients and control subjects (7.2 +/- 9.5% vs 9.9 +/- 10.4%, p>0.05). Compared to the control group, RH flow in HC was decreased; however, differences did not reach statistical significance until 60 sec of RH (112 +/- 102% vs 261 +/- 217%, p<0.05; HC vs controls). In HC patients, endothelial function of peripheral conductance arteries is preserved. Hence, a defect in the forearm arterial bed in HC seems to be limited to mechanisms maintaining the dilation of resistance vessels during decreasing RH flow.

Adult↗
PubMed1989

[Heart involvement in hypereosinophilia: the restrictive or the dilated type?].

As many as 60 patients with hypereosinophilia of different genesis were examined. 40 of them manifested the clinical (congestive heart failure in 6, tachycardia in 10, cardialgias in 3, murmur in the heart in 13, pericardial murmur in 3) and/or ECG signs (disorders of repolarization in 25, His bundle block in 4, rhythm disorders in 7, pathologic Q waves in 2) of heart injury. In 15 out of the 20 examined, the echocardiography data corresponded to the dilated pattern of heart injury despite the fact that the changes in contractile function of the left ventricle were less appreciable than in 28 patients with dilated cardiomyopathy. In 2 patients who died (one from congestive heart failure and one from anaphylactic shock) the presence of endomyocardial fibrosis with heart dilatation was confirmed on postmortem examination. One female patient with right ventricular failure manifested the characteristic signs of isolated injury to the right ventricle. In 3 patients, the endocardium appeared thickened. None of the cases showed the signs of restrictive heart injury. The data obtained indicate that hypereosinophilia may be one of the etiologic factors of dilated cardiomyopathy.

Adolescent↗
PubMed1991

Cardiomyopathy in blacks.

The intent in this chapter has been to bring to general awareness the fact that myocardial dysfunction represents a significant proportion of cardiovascular disease affecting blacks; in particular, dilated cardiomyopathy is a new frontier in cardiology, which demands an aggressive approach. At present, the prognosis is not good in the majority of cases; despite the best medical therapy, most of those with cardiomyopathy are doomed to death within a few years after the onset of congestive heart failure. Many of these are young African-American men in the prime of their lives. Cardiac transplantation offers some hope from this desperate situation, but donor shortages as well as restrictive criteria for prospective recipients and socioeconomic constraints, which may deny many blacks the opportunity to receive a transplant, make this option less than ideal.

Black People↗
PubMed1985

Caesarean section for twins in a patient with myotonic dystrophy.

The management of a patient with myotonic dystrophy undergoing Caesarean section for delivery of twins in breech position is reported. Anaesthetic management must reflect the multi-system nature of the disease in addition to the implications of pregnancy. Known triggers of myotonic crisis (succinylcholine, shivering) must be avoided. Attention to respiratory reserve is necessary in view of the restrictive defect this disease can impose. Cardiomyopathy and conduction system disturbances may be features. Upper gastrointestinal incoordination can superimpose the added risk of aspiration on the pregnant myotonic. Ineffective uterine contraction can cause vigorous post partum haemorrhage. Endocrine disturbances, especially diabetes mellitis, may be present. There may be increased sensitivity to sedative and narcotic agents. The newborn myotonic will need the expertise of neonatal care.

Adult↗
PubMed1987

Elevated urinary dolichol excretion in the Hermansky-Pudlak syndrome. Indicator of lysosomal dysfunction.

The Hermansky-Pudlak syndrome, a triad of albinism, platelets lacking dense bodies, and storage of ceroid-like material in tissues, occurs approximately once in 2,000 northwestern Puerto Ricans. The manifestations of storage disease are variable and include granulomatous colitis, restrictive lung disease, kidney failure, and cardiomyopathy. The autofluorescent material stored in the Hermansky-Pudlak syndrome is histochemically similar to that stored in neuronal ceroid/lipofuscinosis. The material in neuronal ceroid/lipofuscinosis contains dolichols, which are components of lysosomes, and patients show increased urinary excretion of dolichols. This study of 49 patients with the Hermansky-Pudlak syndrome found that urinary dolichol levels are increased in those patients with evidence of ceroid storage in the kidneys but are not elevated when storage occurs in tissues other than the kidneys. The excretion of ceroid was not influenced by the saturation state of dietary fat. A defect in processing of membranes of lysosomes, melanosomes, and dense bodies may be involved in the syndrome.

Albinism↗
PubMed1993

Obesity and the heart.

Obesity can result in alterations in cardiac structure and function even in the absence of systemic hypertension and underlying organic heart disease. Increased total blood volume creates a high cardiac output state that may cause ventricular dilatation and ultimately eccentric hypertrophy of the left (and possibly the right) ventricle. Eccentric left ventricular (LV) hypertrophy produces diastolic dysfunction. Systolic dysfunction may ensue due to excessive wall stress if wall thickening fails to keep pace with dilatation. This disorder is referred to as obesity cardiomyopathy. The presence of systemic hypertension in obese individuals facilitates development of LV dilatation and hypertrophy. Congestive heart failure may occur in such individuals, and may be attributable to LV diastolic dysfunction or to combined LV diastolic and systolic dysfunction. The sleep apnea/obesity hypoventilation syndrome occurs in 5% of morbidly obese individuals and is potentially life-threatening. Treatment of obesity cardiomyopathy consists of weight loss, salt restriction, and diuretics. Digitalis and vasodilators may be useful in selected cases. Central obesity is probably a risk factor for the development of coronary heart disease. Alterations in lipid and insulin metabolism may facilitate development of coronary heart disease in obese patients.

Heart Diseases↗
PubMed1999

Ventricular assistance for recovery of cardiac failure.

Mechanical assist devices have been used increasingly to support patients who await heart transplantation. The initial goal was to provide sufficient circulatory function to keep these patients alive and to allow them to recover from secondary organ dysfunction. A recent observation showed an improvement in native heart performance in some transplant candidates who receive support with mechanical assist devices. Under these conditions, myocardial recovery has been mostly restricted to patients with primary dilated cardiomyopathy and with extended periods of ventricular support. Also, the exact mechanisms that lead to substantial myocardial recovery remain unknown. Several investigations have demonstrated improved myocyte performance, reduced fibrosis, reduced cytokine levels, and reduced autoantibodies during long-term mechanical support; therefore, the observation of cardiac recovery during mechanical support is in accordance with currently discussed models of end-stage heart failure.

Heart Diseases↗
PubMed2003

The biology of caveolae: lessons from caveolin knockout mice and implications for human disease.

Caveolae, plasma membrane invaginations that serve as membrane organizing centers, are found in most cell types, but are enriched in adipocytes, endothelial cells, and myocytes. Three members of the caveolin family (Cav-1, -2, and -3) are essential for the formation of caveolae. Specialized motifs in the caveolin proteins function to recruit lipids and proteins to caveolae for participation in intracellular trafficking of cellular components and operation in signal transduction. Mutations in the gene encoding CAV-1 are associated with the development and progression of breast cancers, whereas mutations in the CAV-3 gene result in Rippling Muscle Disease and a form of Limb-Girdle Muscular Dystrophy. The generation of caveolin-null mice has confirmed the essential role of these proteins in caveolae biogenesis and in the pathophysiology of diverse tissues. Caveolin-null mice provide new animal models for studying the pathogenesis of a number of human diseases, including cancer, diabetes, atherosclerosis, restrictive lung disease and pulmonary fibrosis, cardiomyopathy, muscular dystrophy, and bladder dysfunction.

Animals↗
PubMed1984

Diastolic properties of the left ventricle in normal adults and in patients with third heart sounds.

To explore the pathogenesis of the third heart sound (S3), left ventricular hemodynamics in early diastole were studied during catheterization in normal adults without S3S (group I, n = 12) and in cardiac patients with S3S as the result of severe mitral regurgitation (group II, n = 11), dilated cardiomyopathy (group III, n = 24) or restricted left ventricular filling (group IV, n = 4). The height and steepness of the rise in left ventricular pressure after minimum diastolic pressure (the so-called rapid filling wave), maximum dV/dt, and the time constant of fall in isovolumetric pressure were measured. The completeness of relaxation was evaluated from the number of time constants elapsed at the time of minimum diastolic pressure. Pressure-volume data were fitted to simple elastic and viscoelastic models incorporating inflow rate into the equation. In all patients with S3S a significantly higher and steeper rapid filling wave was found than in normal adults. Maximum dV/dt was significantly greater in group II (1084.9 +/- 416 ml/sec; mean +/- SD) than in the other groups (463.9 +/- 177.1 ml/sec in group I, 448.8 +/- 134.0 ml/sec in group III, and 709.9 +/- 226.8 ml/sec in group IV). No significant differences in left ventricular chamber elastic properties in the different groups were found. However, intrapatient comparisons of the results of the use of elastic and viscoelastic equations revealed a significantly better curve fit (r = .930 vs .968, p less than .005) and a much higher viscous constant for group III. Similar results were found in group IV.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed2005

A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.

CONTEXT: Mutations in the lamin A/C (LMNA) gene have been reported in a wide variety of disorders, including lipodystrophies, cardiomyopathy, muscular dystrophies, neuropathy, mandibuloacral dysplasia, restrictive dermopathy, and progeria. OBJECTIVE: The objective of this study was to carry out mutational analysis of LMNA in a patient with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. DESIGN: The study design was a descriptive case report. SETTING: The study was performed at a referral center. PATIENT: A 44-yr-old male of European descent with an autosomal recessive arthropathy syndrome affecting predominantly the distal femora and proximal tibia in the knee with tendinous calcifications was studied. He also had progeroid features, such as pinched nose and micrognathia, cataract, alopecia, generalized lipodystrophy, and sclerodermatous skin. MAIN OUTCOME MEASURES: The main outcome measures were mutational analysis of lamin A/C (LMNA) and its processing enzyme, zinc metalloproteinase (ZMPSTE24), as candidate genes. RESULTS: We found a homozygous nucleotide substitution, 1718C>T, in exon 11 of the LMNA gene, resulting in substitution of a well-conserved residue serine at position 573 with leucine (S573L). This missense mutation only affects lamin A, not lamin C, because the alternative splicing site is located in exon 10. Immunofluorescence staining of the nuclei from his skin fibroblasts showed occasional misshapen morphology. CONCLUSIONS: The S573L homozygous LMNA mutation is associated with a novel phenotype of arthropathy, tendinous calcifications, and progeroid features distinct from the acroosteolysis previously reported in patients with mandibuloacral dysplasia caused by LMNA or ZMPSTE24 mutations. Thus, arthropathy with tendinous calcifications can be added to the growing list of disorders associated with LMNA mutations.

Adult↗
PubMedDate not supplied

Primary systemic amyloidosis. Early diagnosis and therapy can improve survival rates and quality of life.

Primary systemic amyloidosis is a rare disease with protean manifestations. Presence of nephrotic syndrome in the absence of diabetes and hypertension, cardiomyopathy in the absence of ischemia, restrictive cardiac defect, demyelinating polyneuropathy, or unexplained hepatomegaly should alert the physician to the possibility of amyloidosis. Initial steps in the diagnostic evaluation of patients with suspected amyloidosis include serum and urine immunoelectrophoresis and immunofixation studies. Demonstration of amyloid material on tissue biopsy (e.g., subcutaneous fat) is required for diagnosis. Availability of effective treatments has improved the outlook of patients with primary systemic amyloidosis. Early diagnosis is critical to optimizing the chances of effective therapy.

Aged↗
PubMed1998

Pulsed Doppler echocardiographic study of left ventricular diastolic function in patients with idiopathic dilated cardiomyopathy.

Dilated cardiomyopathy is basically regarded as a disease of left ventricular systolic dysfunction. There are only a few studies evaluating diastolic function in patients with dilated cardiomyopathy. To assess the LV diastolic function, 25 patients with idiopathic dilated cardiomyopathy and 20 age and sex matched normal subjects were studied with transmitral spectral tracings derived from pulsed Doppler echocardiography. All cardiomyopathy patients were in New York Heart Association class III to IV with dilated left ventricles and reduced systolic function (mean ejection fraction of 36.6 +/- 6.7 Vs 65 +/- 6 in normal subjects, p < 0.001). Patients with cardiomyopathy demonstrated an increased ratio of early to late diastolic velocity (E/A) (1.89 +/- 0.59 Vs 1.50 +/- 0.27 m/sec, p < 0.05), short deceleration time (E-E/2) (57.05 +/- 13.36 Vs 70.20 +/- 16.56 msec, p < 0.01) and short isovolumic relaxation time (IVRT) (53.5 +/- 22.7 Vs 72 +/- 12 msec, p < 0.05) as compared to normal subjects. The early filling fraction (EFF) was higher (0.71 +/- 0.11 Vs 0.66 +/- 0.06, p < 0.05) and atrial filling fraction (AFF) was lower (0.28 +/- 0.11 Vs 0.33 +/- 0.06, p < 0.05) in cardiomyopathy patients than in normal subjects. Our observations in a select group of dilated cardiomyopathy patients with advanced disease demonstrate a restrictive pattern on pulsed Doppler echocardiography.

Adult↗
PubMed1990

New drug approaches to the treatment of heart failure in infants and children.

General considerations in planning therapy of heart failure include identification of the cause, rapidity of onset, and the age of the patient. Neonates and young infants with acute onset heart failure frequently develop acidaemia, respiratory compromise or failure, and metabolic derangements such as hypoglycaemia, hypocalcaemia or hypomagnesaemia. These complications require early recognition and urgent therapy. The diagnosis of heart failure in neonates with ductal dependent congenital cardiac lesions (such as coarctation of the aorta, hypoplastic left heart syndrome or pulmonary valve atresia) allows the early institution of alprostadil (prostaglandin E1) therapy to maintain patency of the ductus arteriosus, which stabilises these infants before surgical therapy. Classic therapy for infants with heart failure due to a large left-to-right shunt consists of salt restriction, diuretics and digoxin. If this treatment is inadequate an angiotensin converting enzyme (ACE) inhibitor (e.g. captopril) is added to therapy. The question then arises whether captopril and diuretics should be the initial therapy and digoxin added if this treatment fails. Acute heart failure may occur in the immediate postoperative period after cardiac surgery or may complicate acute overwhelming infections. Therapy consists of volume loading, vasodilator or inotropic agents. Heart failure due to various forms of chronic dilated cardiomyopathy usually responds to treatment with salt restriction, diuretics, digoxin and captopril. Acute deterioration requires treatment with vasodilators and/or inotropic agents. Heart failure in fetuses may occur from sustained supraventricular tachyarrhythmias, and may respond to treatment of the mother with antiarrhythmic agents such as digoxin or procainamide.

Arrhythmias, Cardiac↗