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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This joint work has studied the cardiomyopathies occurring in hereditary neuro-muscular disorders (270 cases). The Duchenne type of disorder (74 cases) was responsible for asystole (4 cases), for cardiomegaly, and especially for abnormalities of the ECG (59 cases)--Q waves and large R waves in V1 and V6. The cardiomyopathy was of the hypokinetic type, with histological evidence of degeneration of the myocardial fibres. Dystrophia myotonica of Steinart (23 cases) caused conductive disorders (17 cases) which were either atrioventricular or intra-ventricular or both. Studies of the His pathway confirmed that these abnormalities were more diffuse in 5 cases. The main histological feature was interstitial fibrosis. There was a high risk of sudden death; ECG follow-up should be close. Friedreich's disease (20 cases) in its complete form led to later development of obstructive cardiomyopathy, with a systolic ejection murmur, cardiomegaly, and abnormalities of the ECG--left ventricular hypertrophy in the vertical axis, right ventricular and septal hypertrophy, repolarisation disorders similar to those found in coronary artery disease. Histology showed hypertrophy with degeneration of the myocardial fibres and interstitial fibrosis. This complete form was rare (7 cases out of 20); on the other hand, ECG abnormalites were very common (16 cases out of 20). The authors have tried to study the relationships between primary cardiomyopathies (50 cases) and peripheral neuromuscular disorders. 17 of the 39 peripheral muscle biopsies were abnormal, but a well-defined muscular dystrophy could not be found in them.
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PMID:[The myocardiopathies of hereditary neuro-muscular diseases]. 9 58

The case of a girl who presented with gastrointestinal upsets with nausea, vomiting and occasional hypoglycaemic attacks during childhood is reported. At about 5 years of age generalised muscular weakness with severe amyotrophy, cardiomegaly with a cardiothoracic ratio of 0,63, left ventricular hypertrophy on electrocardiography and left ventricular dilatation with hypokinesis on echocardiography were observed. A few weeks later she developed severe cardiac failure. Muscle biopsy showed muscular dystrophy with lipid infiltration due to carnitine deficiency )serum carnitine 9 nmoles/ml, normal values: 46 +/- 6,9 nmoles/ml; muscle carnitine 0,27 nmoles/mg, normal values: 3,0 +/- 0,79 nmoles/mg fresh frozen weight). She improved rapidly with carnitine chlorhydrate and a diet low in lipids and high in medium chain triglycerides. Regression of muscular symptoms and cardiac failure was observed. After 13 months follow-up with no tonicardiac therapy she is much improved; the signs of heart failure have disappeared, the cardiothoracic ratio is now 0,55 and the electrocardiogramme and echocardiogramme are normal.
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PMID:[Lipidic myopathy with severe cardiomyopathy caused by a generalized carnitine deficiency. Favourable course during carnitine hydrochloride treatment]. 11 7

Under ether anesthesia electrocardiograms were derived from Syrian hamsters (strain BIO 8262) suffering from cardiomyopathy and muscular dystrophy. In addition, ventricular weights and body weight were determined. Young hamsters -- not yet showing morphological signs of the cardiomyopathy with the exception of possible left ventricular hypertrophy -- demonstrated only a longer ventricular activation time than normal hamsters. With the onset of cardiac necrotization left axis deviation in frontal plane projection and right bundle branch blocks are developing in the cardiomyopathic hamsters followed by first degree atrioventricular conduction defects. During the late stage of the cardiomyopathy left bundle branch blocks are additionally arising, while left ventricular hypertrophy is disappearing. Since no overt heart failure is occurring in this strain of cardiomyopathic hamsters, gradual development of high degree conduction defects is assumed to terminate their lives. The electrocardiographic pattern of the hamster cardiomyopathy fits partly into that of human primary as well as secondary cardiomyopathy. Nevertheless, it seems to form an entity of its own, as arrhythmias, higher degree atrioventricular conduction disturbances, typical signs of ventricular or septal hypertrophy, abnormal P and Q waves, ST segment and T wave changes are lacking.
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PMID:Electrocardiographic changes in cardiomyopathic Syrian hamsters (strain BIO 8262). 14 76

Five children, between 2 and 10 years old, 3 boys and 2 girls, two of them siblings, showed mild clinical and morphological congenital muscular dystrophy. Neuromuscular signs and symptoms being present from birth or early infancy, aggravated only insignificantly during the course of the disease. Three patients developed right ventricular hypertrophy after the age of 9 years, of whom 2 died of cardiac failure at the age of 11 years. There was probably no cardiomyopathy; pulmonary hypertension of unclear range or slightly elevated. The EMG showed abnormal but non-specific features. A myopathic fiber diameter spectrum, intrafascicular fat cells and mild endomysial fibrosis as well as insufficient fiber typing and type I predominance were prominent in histopathological findings. Ultrastructurally, abnormal myofibers were present in each biopsy although the fine structural pathology was non-specific. The families of the patients came from a genetic isolate in the North-Eastern region of the Federal Republic of Germany. The first 4 patients were genetically related to each other by several links among their families dated back over the last 3 centuries. The fifth patient came from the same area, but unequivocal familial linkage could not be established. An autosomal recessive mode of inheritance is suggested for this congenital muscular dystrophy.
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PMID:A form of congenital muscular dystrophy. 722 95

There are many neuromuscular diseases associated with cardiomyopathy. Cardiac involvement with progressive muscular dystrophy (Duchenne and Becker type) and some type of limb-girdle muscular dystrophy were characterized by impaired left ventricular systolic function, such as dilated cardiomyopathy like status. In Friedreich ataxia various types of left ventricular hypertrophy were reported. While in myotonic dystrophy and Emery-Dreifuss muscular dystrophy, conduction disturbance and tachyarrhythmia are common types of cardiac manifestation. The severity of cardiac involvement in these diseases is not necessarily concordant with that of skeletal muscle. Recently the genes of these diseases were identified by linkage analysis. We review cardiac abnormalities of these diseases, especially relationship between severity of cardiac disorder and gene abnormalities.
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PMID:[Secondary cardiomyopathy accompanied by neuromuscular disorders]. 1088 12

Tall lead V1 (tall RV1), defined as an R/S ratio equal to or greater than 1, is not an infrequent occurrence in emergency department patients. This electrocardiographic finding exists as a normal variant in only 1% of patients. Physicians should therefore be familiar with the differential diagnosis for this important QRS configuration. The electrocardiographic entities which can present with this finding include right bundle branch block, left ventricular ectopy, right ventricular hypertrophy, acute right ventricular dilation (acute right heart strain), type a Wolff-Parkinson-White syndrome, posterior myocardial infarction, hypertrophic cardiomyopathy, progressive muscular dystrophy, dextrocardia, misplaced precordial leads, and normal variant. Various cases are presented to highlight the different causes of the tall RV1.
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PMID:Prominent R wave in lead V1: electrocardiographic differential diagnosis. 1159 72

Tall R waves in lead V1 present the life insurance company medical director with a diagnostic dilemma. This ECG pattern may be present in applicants with right bundle branch block, right ventricular hypertrophy, Wolff-Parkinson-White syndrome, posterior myocardial infarction, hypertrophic cardiomyopathy, muscular dystrophy, dextrocardia, misplaced precordial leads, as well as in normal individuals. This ECG case study discusses the ECG features involved in the differential diagnosis.
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PMID:Tall R wave in lead V1. 1549 41

Myostatin is a negative regulator of muscle growth. Loss of myostatin has been shown to cause increase in skeletal muscle size and improve skeletal muscle function and fibrosis in the dystrophin-deficient mdx muscular dystrophy mouse model. We evaluated whether lack of myostatin has an impact on cardiac muscle growth and fibrosis in vivo. Using genetically modified mice we assessed whether myostatin absence induces similar beneficial effects on cardiac function and fibrosis. Cardiac mass and ejection fraction were measured in wild-type, myostatin-null, mdx and double mutant mdx/myostatin-null mice by high resolution echocardiography. Heart mass, myocyte area and extent of cardiac fibrosis were determined post mortem. Myostatin-null mice do not demonstrate ventricular hypertrophy when compared to wild-type mice as shown by echocardiography (ventricular mass 0.69+/-0.01 vs. 0.69+/-0.018 g) and morphometric analyses including heart/body weight ratio (5.39+/-0.45 vs. 5.62+/-0.58 mg/g) and cardiomyocyte area 113.67+/-1.5, 116.85+/-1.9 microm(2)). Moreover, absence of myostatin does not attenuate cardiac fibrosis in the dystrophin-deficient mdx mouse (12.2% vs. 12%). The physiological role of myostatin in cardiac muscle appears significantly different than that in skeletal muscle as it does not induce cardiac hypertrophy and does not modulate cardiac fibrosis in mdx mice.
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PMID:Myostatin does not regulate cardiac hypertrophy or fibrosis. 1733 25

Mutations in the LMNA gene result in diverse phenotypes including Emery Dreifuss muscular dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy with conduction system disease, Dunnigan type familial partial lipodystrophy, mandibulo acral dysplasia, Hutchinson Gilford progeria syndrome, restrictive dermopathy and autosomal recessive Charcot Marie Tooth type 2. The c.1930C > T (R644C) missense mutation has previously been reported in eight unrelated patients with variable features including left ventricular hypertrophy, limb girdle muscle weakness, dilated cardiomyopathy and atypical progeria. Here we report on the details of nine additional patients in eight families with this mutation. Patients 1 and 2 presented with lipodystrophy and insulin resistance, Patient 1 having in addition focal segmental glomerulosclerosis. Patient 3 presented with motor neuropathy, Patient 4 with arthrogryposis and dilated cardiomyopathy with left ventricular non-compaction, Patient 5 with severe scoliosis and contractures, Patient 6 with limb girdle weakness and Patient 7 with hepatic steatosis and insulin resistance. Patients 8 and 9 are brothers with proximal weakness and contractures. Nonpenetrance was observed frequently in first degree relatives. This report provides further evidence of the extreme phenotypic diversity and low penetrance associated with the R644C mutation. Possible explanations for these observations are discussed.
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PMID:Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. 1847 90

Emery Dreifuss muscular dystrophy (EDMD) is a hereditary muscular disorder, characterized by contractures, progressive muscular wasting and cardiac involvement. The majority of EDMD patients harbor mutations in the lamin A/C (LMNA) and emerin (STA) genes. Emerging data implicate mutations in FHL1 (four and a half LIM protein 1) gene, located in chromosome Xq26, in EDMD pathogenesis. FHL1 is mainly expressed in striated and cardiac muscle, and plays an important role in sarcomeric protein synthesis, maintenance of cellular integrity, intracellular signaling and genetic transcription pathways. We report the identification of a novel nonsense mutation in FHL1 gene, associated with left ventricular hypertrophy and a family history of stroke and sudden cardiac death. The management implications of this diagnosis are also discussed.
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PMID:Left ventricular hypertrophy caused by a novel nonsense mutation in FHL1. 2350 67


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