Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The mucopolysaccharidosis represent a broad spectrum of disorders due to the deficiency of one of a group of enzymes which degrade three classes of mucopolysaccharides: heparan sulfate, dermatan-sulfate and keratan sulfate. The general phenotype includes coarse facies, corneal clouding, hepatosplenomegaly, joint stiffness, hernias, dysostosis multiplex, mucopolysaccharides excretion in the urine and metachromatic staining in peripheral leukocytes and bone marrow. Various components of the MPS phenotype are also found in the mucolipidoses, glycoprotein storage diseases. Detailed clinical and radiologic evaluation and identification of the type of MPS excreted in the urine help to narrow the diagnosis possibilities. Definitive diagnosis requires assay of specific enzymes in various tissues such as cultured skin fibroblasts. For the moment there are 14 types of known mucopolysaccharidoses, including several subtypes. They are classified into Hurler's syndrome (MPS I-H); Scheie's syndrome (MPS I-S); Hurler-Scheie's syndrome (MPS I-H/S); Hunter's syndrome A, B (MPS II-A, B); Sanfilippo's syndrome A,B,C,D (MPS II-A,B,C,D); Morquio's syndrome A,B,C (MSP IV-A,B,C); Maroteaux-Lamy's syndrome (MPS VI) and Sly's syndrome MPS VII). The mucopolysaccharidosis incidence is around 0.04-0.3% of the newborn and they are 1.5% of all congenital disorders. All mucopolysaccharidosis are autosomal recessive disorders, except for Hunter's syndrome that is X-linked and recessive. Patient suffering of MPS, usually, don't show clinical sign from their birth in fact they develop later their characteristics. The average surviving of this patients is around 20-30 years old, and the exitus is due to cardiac failure or to infections to the gastrointestinal tract or to instability of atlantoaxial joint.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Mucopolysaccharidosis. A case report of Morquio's type-A disease (MPS IV-A)]. 129 76

To evaluate the occurrence of familial cases of dilated cardiomyopathy (DC), 165 consecutive patients were studied. Diagnosis of myocardial disease was based on clinical, hemodynamic, bioptic, postmortem or a combination of these criteria. Twelve patients (7% of cases) showed evidence of myocardial disease in greater than or equal to 1 relative; 27 patients with myocardial disease were detected in the 12 families, but a suspected history of myocardial involvement was present in a further 16 cases. In 6 families proband and relatives were affected by DC (total 14 cases); in 1 of these families the disease began with an atrioventricular block. In 4 families the relatives showed the presence of myocarditis at the endomyocardial biopsy. In 2 families the relatives presented a right ventricular cardiomyopathy. The mode of inheritance was autosomal dominant in 7 families, recessive in 4; X-linked pattern may be hypothesized in 1. Nine patients died under the age of 45 years: 2 of sudden death, 6 of chronic heart failure and 1 of cerebral embolism. Familial transmission is not rare. Different modes of genetic transmission (autosomal dominant, recessive and X-linked) and different forms of myocardial disease suggest that familial DC may be a multifactorial disease.
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PMID:Clinical and pathologic study of familial dilated cardiomyopathy. 235 50

As with other cardiovascular diseases, there are sufficient data to suggest significant gender-related differences in the prevalence and presentation of congestive heart failure and myocardial diseases. From animal studies, it is apparent that there are sex-related differences in intrinsic ventricular function and in the cardiovascular response to various stimuli, which are at least partly modulated through direct effects of sex hormones on the heart. Although similar data are not available in humans, it seems likely that similar gender-related differences in cardiac function exist and may in part account for the observed differences in myocardial diseases in men and women. Additionally, genetic factors may contribute to these differences, as X-linked disorders may present differently in males and females. An awareness of the impact of sex-related factors is clearly important in the evaluation of any patient presenting with heart failure or cardiomyopathy and may alter both diagnostic and therapeutic considerations, as well as broaden our basic knowledge and understanding of the pathogenetic mechanisms involved in myocardial dysfunction.
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PMID:Gender-related differences in cardiomyopathy. 249 48

A 23-year-old man with X-linked Becker type muscular dystrophy underwent cardiac transplantation because of dilated cardiomyopathy which was complicated by terminal heart failure. Impairment of muscle function was mild and slowly progressive, whereas the cardiac disease was severe and rapidly progressive. All four chambers of the removed heart were grossly dilated; microscopically, the myocardial fibres were hypertrophic and pale; the nuclei exhibited pleomorphism with variability in nuclear size, shape, and depth of staining.
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PMID:Cardiac transplantation in Becker muscular dystrophy. 306 35

The algebraic sum of the R and S waves (R-S) in the V(1) lead of the electrocardiogram has been found to be significantly greater in female carriers of X-linked Duchenne muscular dystrophy (but not in women with limb-girdle muscular dystrophy) compared with normal women of comparable age. A similar E.C.G. abnormality is found in affected boys, and possibly certain carriers have a latent cardiomyopathy and may even be predisposed to cardiac failure.
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PMID:Abnormalities of the electrocardiogram in female carriers of Duchenne muscular dystrophy. 578 88

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.
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PMID:Familial cardiac and skeletal myopathy associated with desmin accumulation. 800 44

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.
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PMID:Molecular basis of hypertrophic and dilated cardiomyopathy. 818 May 12

Golden Retriever dogs manifest an X-linked, Duchenne-like, muscular dystrophy with a characteristic lack of dystrophin. Histologic findings have demonstrated the cardiac involvement in these dogs to be a model for the cardiac insufficiency in human Duchenne muscular dystrophy (DMD). The goal of this study was to assess the capability of radionuclide angiography (RNA) as an assessment tool to measure the ventricular dysfunction in these dogs. Three dogs, one normal and two with muscular dystrophy (MD), were studied by equilibrium gated blood pool. Red blood cells were labelled with 420 MBq of 99mTc. The three dogs lying on their left sides on the table, received no drugs and were not restrained in any manner. RNA left ejection fraction (EF) and echographic measurements of left ventricular fractional shortening (FS) were performed during the same session. EF values were 61%, 48%, 36% and FS values were 47%, 32%, 26%, respectively, for the control dog, the 6 month old MD dog and the 12 month old MD dog. This preliminary study demonstrates the potential usefulness of RNA for the non-invasive follow-up exams of specific therapy in a canine model of muscular dystrophy.
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PMID:Non-invasive evaluation of the cardiac function in golden retriever dogs by radionuclide angiography. 818 87

Analysis of autopsied cause of death during the London Fog of 1952 indicates that mortality from all respiratory causes, sudden and delayed, had a consistent male fraction of 0.622. Sudden death from heart failure had a similar male fraction of 0.612. However, heart failures after the first day of illness had a male fraction of 0.48. This significant difference in male fraction between sudden (0.61) and delayed (0.48) heart failure suggests different terminal events. Coronary sudden death may be attributable to right-sided heart failure, and the delayed form may be attributable to left-sided failure leading to pulmonary congestion. The male fraction in sudden respiratory and sudden cardiac deaths (0.612) is exactly the same as the male fraction in sudden infant death syndrome-0.612 - which has been posited as being X-linked. It is hypothesized that the same X-linked gene responsible for the 0.612 male fraction in sudden infant death syndrome may be a factor in the respiratory and sudden cardiac mortalities during the London Fog.
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PMID:A genetic hypothesis for cause of death during the 1952 London Fog. 874 92

Barth syndrome (BTHS) is an X-linked disorder characterized clinically by the associated features of cardiac and skeletal myopathy, short stature, and neutropenia. The clinical manifestations of the disease are, in general, quite variable, but cardiac failure as a consequence of cardiac dilatation and hypertrophy is a constant finding and is the most common cause of death in the first months of life. X-linked cardiomyopathies with clinical manifestations similar to BTHS have been reported, and it has been proposed that they may be allelic. We have recently identified the gene responsible for BTHS, in one of the Xq28 genes, G4.5. In this paper we report the sequence analysis of 11 additional familial cases: 8 were diagnosed as possibly affected with BTHS, and 3 were affected with X-linked dilated cardiomyopathies. Mutations in the G4.5 gene were found in nine of the patients analyzed. The molecular studies have linked together what were formerly considered different conditions and have shown that the G4.5 gene is responsible for BTHS (OMIM 302060), X-linked endocardial fibroelastosis (OMIM 305300), and severe X-linked cardiomyopathy (OMIM 300069). Our results also suggest that very severe phenotypes may be associated with null mutations in the gene, whereas mutations in alternative portions or missense mutations may give a "less severe" phenotype.
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PMID:The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. 938 96


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