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Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Recently, a significant activity of inducible nitric oxide synthase (iNOS) has been reported in biopsies from failing hearts due to idiopathic dilated cardiomyopathy (IDC). Thus, a potential pathophysiological role of iNOS in IDC has been stated. In order to investigate, whether iNOS expression is of pathophysiological relevance in human heart failure, we measured iNOS protein expression and cGMP content in left ventricular myocardium from non-failing and failing human hearts. Immunoblot analysis revealed iNOS protein expression in four out of six failing hearts from septic patients, whereas no iNOS-protein expression was detected in either non-failing human hearts (n = 6) or failing hearts due to IDC (n = 9), ischemic heart disease (IHD, n = 7), Becker muscular dystrophy (BMD, n = 2) and mitoxantrone-induced toxic cardiomyopathy TCM, n = 1). cGMP content was increased by 130% in septic hearts, whereas there was no cGMP increase in hearts with IDC. IHD and BMD compared to non-failing hearts. We conclude, that the induction of iNOS may play a role in contractile dysfunction observed in septic shock, but is unlikely to be of major pathophysiological importance in end-stage heart failure due to IDC, IHD, BMD and TCM.
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PMID:Expression of inducible nitric oxide synthase in failing and non-failing human heart. 874 24

Cardiac function was examined in 21 patients with Becker muscular dystrophy (BMD) and compared with 43 patients with Duchenne muscular dystrophy (DMD) and 37 healthy control subjects. Electrocardiography showed myocardial damage was most frequently found in the lateral wall, compatible with autopsy findings. The ratio of the preejection period to the ejection time was higher in patients with BMD (0.37 +/- 0.07, mean +/- SD) than in patients with DMD (0.28 +/- 0.05) and healthy controls (0.23 +/- 0.04). Left ventricular dimension and mitral annular size at end diastole in patients with BMD increased to 52.3 +/- 7.7 mm and 28.8 +/- 5.3 mm with age, respectively. In patients with cardiac failure and BMD, mitral regurgitation was observed at a rate of 66.7%. No definite relation between the deleted locus of the dystrophin gene and cardiac failure was found. Because motor dysfunction progresses more slowly in BMD than in DMD, a prolonged work load on the morbid myocardium may lead to dilated cardiomyopathy with mitral regurgitation.
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PMID:Cardiac dysfunction with Becker muscular dystrophy. 880 37

Duchenne and Becker muscular dystrophies (DMD and BMD, respectively) are the most common inherited muscular diseases and caused by mutations in the dystrophin gene. Half to two-thirds of DMD and BMD patients carry deletions (usually of several kilobases of genomic DNA). The clinical progression in DMD and BMD patients with deletions can be predicted in 92% of cases based on whether the deletion maintains or disrupts the translational reading frame (frame-shift hypothesis). However, some exceptional cases have been reported; BMD cases whose dystrophin gene exons 3 to 7 were deleted (out-of-frame), more severe case whose dystrophin gene deletion maintains reading frame but includes N-terminal region, and so on. Splicing mutation is one kind of mutations of dystrophin gene, and usually induced by small mutation of exon-intron boundary sequence. However, intraexonal small mutation also induces exon skipping, due to disruption of exon recognition sequence, which is intraexonal sequence and necessary for splicing of the upstream intron. For molecular diagnosis of DMD/BMD it is important to analyze not only in genomic DNA level, but also in mRNA, protein, and clinical levels. And the relationship between molecular abnormality and clinical phenotype should be examined, especially when extramuscular symptoms (heart failure and mental retardation) are prominent.
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PMID:[Molecular genetics and problems found in genetic diagnosis of Duchenne Becker muscular dystrophy]. 943 21

Two Japanese brothers with Becker muscular dystrophy were shown by polymerase chain reaction (PCR) and cDNA sequence analysis to produce a dystrophin gene transcript lacking a single exon: that is, number 13. Despite having the same deletion mutation, the brothers showed clearly different clinical phenotypes: the younger brother developed cardiac failure at the age of nine, while the elder brother was asymptomatic. As alternative splicing was not responsible for this clinical difference, the amount of dystrophin transcript was examined by using reverse transcription semi-nested and parallel PCR. The results showed that the amount of the dystrophin transcript in the younger brother was 20% of that of the elder brother. This finding suggested that lesser amount of dystrophin transcript in the younger brother was responsible for the early onset of cardiac failure. This would represent a novel molecular mechanism for dystrophinopathy.
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PMID:Early cardiac failure in a child with Becker muscular dystrophy is due to an abnormally low amount of dystrophin transcript lacking exon 13. 944 58

Duchenne/Becker muscular dystrophies (DMD/BMD) are the most common inherited muscular disease and caused by mutations in the dystrophin gene. A half to two-thirds of DMD and BMD patients carry deletions (usually of several kilobases of genomic DNA). The clinical progression in DMD and BMD patients with deletions can be predicted in 92% of cases based on whether the deletion maintains or disrupts the translational reading frame (frame-shift hypothesis). However, some exceptional cases have been reported in which some posttranscriptional modifications were suggested, such as alternative splicing and reinitiation of translation. Splicing mutation is one kind of mutations of dystrophin gene, and usually induced by a small mutation of exon-intron boundary sequence. However, intraexonal small mutation also induces exon skipping, due to disruption of an exon recognition sequence, which is an intraexonal sequence and necessary for splicing of the upstream intron. Carrier diagnosis is one of the important clinical application of genetic diagnosis. In the case of DMD/BMD with deletions of the dystrophin gene, carrier diagnosis is difficult because of the existence of normal X chromosome. In these cases a linkage analysis is useful, and in some cases non-carriers can be directly diagnosed on the basis of microsattelite polymorphism detected in deleted region of patient. For the molecular diagnosis of DMD/BMD it is important to analyze not only at the genomic DNA level, but also at the mRNA, protein, and clinical levels. And the relationship between the molecular abnormality and clinical phenotype should be examined, especially extramuscular symptoms such as heart failure and mental retardation.
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PMID:[Genetic diagnosis of Duchenne/Becker muscular dystrophy; clinical application and problems]. 954 79

In Becker's muscular dystrophy cardiac abnormalities usually occur after onset of neuromuscular symptoms. We describe a Becker muscular dystrophy patient in whom chronic heart failure, necessitating cardiac transplantation, was the initial manifestation. Neuromuscular symptoms occurred not earlier than 6 years after the initial cardiac symptoms and 5 years after heart transplantation. In conclusion, severe heart failure due to dilated cardiomyopathy may be the initial manifestation of Becker's muscular dystrophy and may predate neuromuscular symptoms for years.
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PMID:Cardiac involvement in Becker's muscular dystrophy, necessitating heart transplantation, 6 years before apparent skeletal muscle involvement. 1061 19

Shortness of breath is a common cause of consultation in the emergency unit. Therefore, it is essential to diagnose cases of cardiac failure. This may be difficult in some cases. The authors set out to assess the value of measuring brain natiuretic peptide in this context. Brain natiuretic peptide (BNP) was measured by an ultrafast method (Biosite/BMD) on arrival of 125 patients to the emergency unit. The results were then compared with the diagnoses made in the emergency unit and those of the hospital discharge summary. Nearly 18% of patients were wrongly classified in the emergency room; 1/3 were falsely diagnosed as cardiac failure and 2/3 were not recognised initially as having cardiac failure. In 90% of patients, in particular in the group wrongly considered as not having cardiac failure, BNP measurement could have helped correct the mistake. The optimal threshold value of BNP for diagnosis of cardiac failure in this study was 300 pg/mL, with positive and negative predictive values of 92.4 and 90.2%, respectively.
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PMID:[Value of type B natriuretic peptide in the emergency management of patients with suspected cardiac failure. Report of 125 cases]. 1240 89

Dystrophinopathies are due to mutations in the dystrophin gene on chromosome Xp21.1 and comprise the allelic entities Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and X-linked dilative cardiomyopathy (XLDCM). In all three entities, the heart is affected to various degrees, depending on the stage of the disease and the type of the mutation (cardiac involvement, CI). The pathoanatomic evidence of CI in dystrophinopathies is the replacement of myocardium by connective tissue or fat. In DMD/BMD, the left ventricular posterobasal and lateral walls are most extensively affected, sparing the right ventricle and the atrium. Degree and dynamics of CI vary among the three entities. In DMD/BMD, CI usually remains subclinical in the early stages of the disease. Typical initial manifestations of CI in DMD/BMD are sinus tachycardia, tall R1 in V1, prominent Q in I, aVL, V6 or in II, III, and aVF, increased QT dispersion and possibly autonomic dysfunction. Initially, echocardiography is normal or shows regional wall motion abnormalities in areas of fibrosis. With spreading of fibrosis, left ventricular dysfunction and ventricular arrhythmias additionally occur. In the final stages of the disease, systolic function may lead to heart failure and sudden death. Subclinical or clinical CI is present in about 90% of the DMD/BMD patients but is the cause of death in only 20% of the DMD and 50% of the BMD patients. XLDCM is a rapidly progressive, almost exclusively myocardial disorder, starting in teenage males as heart failure due to dilative cardiomyopathy (CMP), leading to death from intractable heart failure within 1-2 years after diagnosis. Therapy of arrhythmias and CMP in all three disorders follows the established cardiological recommendations. Due to its protective effect, ACE inhibitors are recommended already at the early stages of the disease. Beta-blockers may be an additional option if indicated.
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PMID:The heart in human dystrophinopathies. 1258 17

We describe a rare case of Becker's muscular dystrophy (BMD) in a 28-year-old man complicated by rapidly progressing heart failure without apparent clinical signs of neuromuscular disease. He showed rhabdomyolysis, which repeatedly occurred causing acute renal failure as heart failure worsened. His serum creatine kinase (CK) level was generally below 300 IU/l. However, it exceeded more than 10,000 IU/l at the time of myoglobinuria. This suggests that the worsening of heart failure could induce rhabdomyolysis in a BMD patient. Gene analysis for BMD should be considered when the elevation of serum CK is noted in heart failure.
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PMID:Subclinical Becker's muscular dystrophy presenting with severe heart failure. 1509 1

A 40-year-old male with Becker muscular dystrophy and cardiac involvement was stable in New York Heart Association class II for 7 years. He then had arthralgia caused by bilateral gonarthrosis. He received diclofenac 100 mg/d and 500 mg/d mephenamine acid. Six weeks later, he was hospitalized because of heart failure (New York Heart Association class IV). Echocardiography revealed biatrial and biventricular dilation, a left ventricular end-diastolic diameter of 82 mm, an ejection fraction of 26%, a severe tricuspid regurgitation, and an elevated pulmonary artery pressure of 60 mm Hg. Nonsteroidal anti-inflammatory drugs were discontinued, and physiotherapy and equipment with a corset were initiated. He improved after treatment with parenteral diuretics, returning to class II. Nonsteroidal anti-inflammatory drugs should be given with caution in Becker muscular dystrophy with cardiac involvement.
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PMID:Worsening of heart failure in Becker muscular dystrophy after nonsteroidal anti-inflammatory drugs. 1589 29


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