Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 17-year-old boy with Duchenne's muscular dystrophy and congestive cardiomyopathy with a left ventricular thrombus is described. The patient presented with flank pain, and computed tomography of the abdomen revealed multiple bilateral renal infarcts. An echocardiogram delineated a left ventricular thrombus and generalized hypokinesis with a left ventricular ejection fraction of 25%. Heparin therapy was started, but the patient died of refractory congestive heart failure. Autopsy revealed diffuse skeletal myopathy consistent with Duchenne's muscular dystrophy as well as biventricular cardiomyopathy with a recent left ventricular apical-septal mural thrombus. Right atrial thrombus, a left upper lobe pulmonary embolus, and splenic and renal infarcts were also noted. To our knowledge, this is the first reported case of left ventricular thrombus with or without systemic emboli in the cardiomyopathy of Duchenne's muscular dystrophy.
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PMID:Left ventricular thrombus and systemic emboli complicating the cardiomyopathy of Duchenne's muscular dystrophy. 281 62

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 features of regional wall motion abnormalities of the left ventricle were analysed in 11 patients of congestive cardiomyopathy (CCM) in comparison with 22 patients of progressive muscular dystrophy (DMD) of Duchenne type who showed an abnormal motion of the left ventricle by echocardiography. Real time two-dimensional echocardiographic study demonstrated the following results: I) In CCM, (1) only 2 or less of 11 cases preserved a normal motion in each left ventricular segment, and the depression of wall motion of the left ventricle were thought to be generalized; (2) there were 9 cases with segmental wall motion abnormalities and 3 of them demonstrated ventricular aneurysms, and (3) the localizations of the segmental abnormalities varied in each case, and there was no apparent accumulation to any segments. II) In DMD, (1) all the cases showed depressed motions and 8 of them demonstrated a ventricular aneurysm in the posterior wall of the left ventricle (LVPW), (2) while, there was no case showing ventricular aneurysm in the segments other than LVPW, and about one third of all cases showed normal motion in those segments. From these results, we concluded as follows: 1) Although the depression of a wall motion of the left ventricle was generalized in CCM, this was not always uniform and the segmental abnormalities of a wall motion were frequently observed. The localization of the most severely disturbed segment varied in each case. 2) On the other hand, in DMD, the wall motion was disturbed more frequently and more severely in LVPW than in other ventricular segments.
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PMID:[Regional wall motion of the left ventricle in congestive cardiomyopathy: in comparison with progressive muscular dystrophy of Duchenne type (author's transl)]. 734 27

The physiatrist can now be instrumental in prolonging the survival of individuals with neuromuscular disease by using respiratory muscle aids. As a result, morbidity and mortality from cardiomyopathy are likely to increase for patients with generalized myopathies. One hundred consecutive patients with dystrophin-deficient muscular dystrophy and a mean age of 17.2 yr (range, 5-41) satisfied criteria for having dilated cardiomyopathy (DCM) and received digitalis and diuretics. Nine of the 14 patients were symptom-free, despite left ventricular ejection fractions (LVEFs) of 25-40%. The five patients with symptomatic heart failure had severe ventricular dilatation, with LVEFs < 25%. Two of the five patients died of heart failure within 1 yr. For the remaining three patients, we evaluated the addition of the angiotensin-converting enzyme (ACE) inhibitor enalapril and, subsequently, the use of beta-blockers to the therapeutic regimen. Addition of these medications, never before attempted in the management of cardiomyopathy associated with generalized myopathic disease, complemented each other in relieving symptoms and reversing signs of congestive heart failure and DCM. We conclude that the combination of ACE inhibitor and beta-blocker deserves further exploration for inclusion in any management regimen for the treatment of muscular dystrophy-associated cardiomyopathy.
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PMID:A management trial for Duchenne cardiomyopathy. 757 10

Myocardial involvement is frequently present in Xp21-linked muscular dystrophy, due to a lack of dystrophin in cardiac fibres. We describe a 41-yr-old man affected by dilated cardiomyopathy with sporadic episodes of myoglobinuria induced by effort and increased levels of serum creatine kinase. Very mild signs of skeletal myopathy were clinically evident. His mother was affected by an indefinite cardiopathy and suddenly died when she was 36 yr old. Muscle biopsy of the patient showed a dystrophic process. Dystrophin analysis together with a genetic DMD locus study led us to diagnose Becker type muscular dystrophy, with truncated dystrophin and a gene deletion extending from exon 45 to 48. Prevalent cardiac involvement in a Becker type mutation of the dystrophin gene further confirms clinical variability of dystrophinopathies.
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PMID:Prevalent cardiac involvement in dystrophin Becker type mutation. 798 95

We review recent publications involving molecular biology and heart failure. There was some further evolution in our knowledge of the basis for the simplest of molecular genetic diseases--single gene disorders. This year, hypertrophic cardiomyopathy had further genes identified as causative mutations; was shown to have the same genetic defects in spontaneous and familial cases; and demonstrated phenotypic alteration by environmental factors. Several rare cardiomyopathies were linked to the dystrophin gene, previously identified as the mutated gene responsible for forms of muscular dystrophy. Molecular methods were applied to linking viral infection to dilated cardiomyopathy by hunting for viral genomes in heart muscle, and for seeking mutations in mitochondrial DNA. Molecular treatment of restenosis after angioplasty showed promise through the application of gene transfer to vascular tissue by oligonucleotides as well as adenovirus-mediated gene transfer. The ethical aspects of diagnosing and treating human disease using genetic information, which receive frequent discussion in print, are also reviewed.
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PMID:The molecular and cellular biology of heart failure. 804 84

Idiopathic dilated cardiomyopathy (DCM) is characterised by ventricular dilatation and impaired systolic function resulting in congestive heart failure and frequently death. A dilated cardiomyopathy is common in patients with symptomatic Duchenne/Becker muscular dystrophy, a disease caused by dystrophin gene defects. However, cardiomyopathy is rarely the predominant clinical feature of this form of muscular dystrophy. To determine whether dystrophin gene defects might account for a significant number of patients with apparently isolated idiopathic DCM, we performed dystrophin gene analysis in 27 DCM patients, who were ascertained as part of a prospective study on idiopathic DCM. No dystrophin gene defects were found in our patients, whose average age was 50 years. These data suggest that dystrophin defects are not a common cause of idiopathic DCM in this age group in the absence of skeletal muscle cramps or weakness.
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PMID:Dystrophin analysis in idiopathic dilated cardiomyopathy. 830 53

The authors report a case of dilated cardiomyopathy caused by a muscular dystrophy, namely Becker's disease. The peculiarity of this case is the fact that the patient has lived enough time to have clinical manifestations of myocardiopathy because, in general, in this myopathy, the affected males have a short life and the early myocardial involvement is rare. A particular attention is paid to the need of consulting the cardiac patients not forgetting an eventual causal systemic disease and to the crucial importance of the genetic counselling in that kind of diseases.
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PMID:[Dilated cardiomyopathy in a patient with Becker's muscular dystrophy. A clinical case report]. 833 94

Clinically manifest muscular dystrophy is often accompanied by functional and anatomic derangements in the myocardium which often have prognostic significance. We describe two young patients who had unrecognized limb-girdle muscular dystrophy who presented with cardiac arrhythmia. One developed dilated cardiomyopathy complicated by ventricular tachyarrhythmia. The other patient had atrial paralysis requiring permanent pacing. It is important to consider the possibility of underlying muscular dystrophy in patients who present with cardiac arrhythmia without an obvious cause.
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PMID:Cardiac arrhythmias as presenting symptoms in patients with limb-girdle muscular dystrophy. 915 68

Inherited cardiomyopathies may arise from mutations in genes that are normally expressed in both heart and skeletal muscle and therefore may be accompanied by skeletal muscle weakness. Phenotypically, patients with familial dilated cardiomyopathy (FDC) show enlargement of all four chambers of the heart and develop symptoms of congestive heart failure. Inherited cardiomyopathies may also be accompanied by cardiac conduction-system defects that affect the atrioventricular node, resulting in bradycardia. Several different chromosomal regions have been linked with the development of autosomal dominant FDC, but the gene defects in these disorders remain unknown. We now characterize an autosomal dominant disorder involving dilated cardiomyopathy, cardiac conduction-system disease, and adult-onset limb-girdle muscular dystrophy (FDC, conduction disease, and myopathy [FDC-CDM]). Genetic linkage was used to exclude regions of the genome known to be linked to dilated cardiomyopathy and muscular dystrophy phenotypes and to confirm genetic heterogeneity of these disorders. A genomewide scan identified a region on the long arm of chromosome 6 that is significantly associated with the presence of myopathy (D6S262; maximum LOD score [Z(max)] 4.99 at maximum recombination fraction [theta(max)] .00), identifying FDC-CDM as a genetically distinct disease. Haplotype analysis refined the interval containing the genetic defect, to a 3-cM interval between D6S1705 and D6S1656. This haplotype analysis excludes a number of striated muscle-expressed genes present in this region, including laminin alpha2, laminin alpha4, triadin, and phospholamban.
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PMID:Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. 938 2


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