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

Storage disorders and neuromuscular disorders may lead to cardiac involvement which can be visualized by echocardiography. In storage disorders like hypothyroidism, haemochromatosis, amyloidosis, mucopolysaccharidosis and Fabry's disease, myocardial thickening and systolic dysfunction can be found. In amyloidosis, atrial enlargement and abnormal texture of the myocardium are additional findings. In advanced haemochromatosis all cardiac chambers may be dilated. In hypothyroidism and amyloidosis, a pericardial effusion can be present. In haemochromatosis and amyloidosis, a restrictive filling pattern may be detected using Doppler-sonography. Mucopolysaccharidosis and Gaucher's disease may lead to aortic and mitral stenosis. In neuromuscular disorders like glycogenosis, mitochondriopathy and myotonic dystrophy, myocardial thickening and systolic dysfunction are found, in spinal muscular atrophy myocardial thickening and in muscular dystrophy Becker/Duchenne systolic dysfunction. An abnormal myocardial texture may be present in glycogenosis, isolated left ventricular abnormal trabeculation (ILVAT) in mitochondriopathy, myotonic dystrophy and muscular dystrophy Becker/Duchenne. Using Doppler-sonography an impaired relaxation of the left ventricle may be detected in mitochondriopathy, myotonic dystrophy and spinal muscular atrophy. Most of these echocardiographic findings are unspecific and may be overlooked, especially if the storage or neuromuscular disorder is yet unknown. Establishing a correct diagnosis is important, since healing or functional improvement is possible in many of these disorders.
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PMID:[Echocardiography in storage and neuromuscular disorders]. 1146 86

We report a new clinical variant of epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) that was associated with cardiac involvement. A 33-year-old patient had atrial fibrillation, pericardial effusion, and hypokinetic left ventricular cardiac walls. The muscle biopsy material revealed diffuse endomysial fibrosis and small atrophic muscle fibers with rounded contours. A positive desmin expression with abnormal localization in the subsarcolemmal groups was observed. We concluded that patients with EBS-MD should be investigated carefully when there are associated cardiac findings.
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PMID:Epidermolysis bullosa simplex associated with muscular dystrophy and cardiac involvement. 1907 68

Sheehan syndrome, characterized by postpartum pituitary necrosis, is an important cause of hypopituitarism in developing countries. We report the case of a 50-year-old female with Sheehan syndrome, who had two spontaneous conceptions following severe postpartum hemorrhage in her first delivery and presented 27 years later with moderate pericardial effusion and features of pseudohypertrophic myopathy mimicking muscular dystrophy.
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PMID:Spontaneous Conception, Pericardial Effusion, and Pseudohypertrophic Myopathy Mimicking Muscular Dystrophy in Delayed Presentation of Sheehan Syndrome. 3212 74