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)

Myocardial function was evaluated prospectively by noninvasive methods in 20 boys with clinical, biochemical, muscle biopsy, and electromyographic evidence of Duchenne's progressive muscular dystrophy. Auscultatory evidence of a nonejection systolic click suggested mitral valve prolapse (MVP) syndrome in seven patients. Phonocardiography disclosed that the click was mid-systolic in four patients and early in three. Echocardiographic features consistent with this diagnosis were identified in all seven patients and in an additional four. One of these had an apical pansystolic murmur, suggestive of mitral regurgitation, whereas in the other three, prolapse of the mitral valve was "silent". Echocardiographic findings included an abrupt midsystolic, posterior motion (greater than 3 mm beyond the CD line) in five patients, multiple sequence echoes in six, and posterior coaptation of the mitral valve near the left atrial wall in six. The features most characteristic of MVP syndrome was a smooth, pansystolic, anteriorly concave (hammock-like) posterior motion deviating more than 3 mm beyond the CD line. Among the remaining nine patients who did not have echocardiographic evidence of prolapsing mitral valve, none had an early, middle or late nonejection systolic click or a heart murmur, although four patients in this group had moderate to severe scoliosis. These observations document of occurrence of MVP syndrome in children with Duchenne's muscular dystrophy and indicate that its prevalence is high. We speculate that prolapse of the mitral valve in these patients is an expression of the underlying cardiomyopathy characteristic of Duchenne's muscular dystrophy rather than an isolated, dystrophic involvement of the mitral valve leaflets.
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PMID:Mitral valve prolapse syndrome in children with Duchenne's progressive muscular dystrophy. 44 Jul 88

In order to screen for cardiac abnormalities, we prospectively studied 15 patients (age 8-25 years, mean 15.5 years) with Duchenne's (DMD) (n = 9) and Becker's (BMD) (n = 6) muscular dystrophy using the echocardiogram. Data were compared to a control group of 92 healthy individuals (age 7.9-25 years, mean 14.3 years). Left ventricular filling in diastole showed a different pattern when comparing echocardiographic Doppler results in patients and controls: Patients had lower peak velocity of early left ventricular diastolic filling (E-vmax)(P < 0.0001) and smaller time velocity integral of the E-wave (E-tvi)(P < 0.0001). In contrast, the atrial component (A-vmax, A-tvi) of diastolic filling in DMD/ BMD showed no significant difference to controls. The mean area of the mitral valve orifice was significantly larger in patients (P < 0.0001) without presence of mitral regurgitation. Systolic left ventricular function was significantly impaired in the DMD/BMD group; we found lower heart rate corrected fiber shortening velocity VCFc (P < 0.001) and higher peak systolic wall stress (P < 0.001) in DMD/BMD. In 8 of 15 patients, peak systolic wall stress was above 95th percentile of controls. In 6 of 15 patients, VCFc was lower than the 5th percentile of controls. Systolic and diastolic myocardial impairment was found even in young patients and at low stages of disability--equally among patients with DMD or BMD. Diastolic left ventricular impairment predominantly affected the early diastolic filling, but atrial compensation was poor. Peak systolic wall stress measurements were particularly useful in patients with CMP, reflecting the left ventricular afterload.
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PMID:X-chromosomal (p21) muscular dystrophy and left ventricular diastolic and systolic function. 956 5