AN AFFECTED FEMALE CARRIER OF DUCHENNE MUSCULAR DYSTROPHY WITH ASSOCIATED MITRAL VALVE PROLAPSE

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Abstract

Mitral valve prolapse (MVP), cardiomyopathy (CM), and conduction disturbances have been associated with Duchenne muscular dystrophy (DMD), This X-linked disorder characteristically manifests symptoms in males in the first five years of life due to pelvic girdle muscle involvement. Rapid progression to other skeletal muscles occurs before cardiac involvement. Classically females are considered asymptomatic carriers diagnosed by elevated serum enzymes. Recently Kunkel et al demonstrated a large gene locus for DMD in the Xp21 region, but specific myocardial coding regions have not been elucidated. MVP syndrome in DMD has been proposed to be an expression of underlying CM and papillary muscle dysfunction. Speculation of occurrence in asymptomatic carriers has been made. We present a 20 year old affected female carrier with strong family history for DMD and complaints of progressive leg weakness and new onset cardiac murmur. Leg weakness, positive Gowers' sign, midsystolic click and apical late systolic murmur were clinically noted, in addition to extremely elevated serum CPK (5263mU). Echocardiography (M-mode, 2-D, Doppler) demonstrated mitral regurgitation and normal shortening fraction. DNA diagnostic studies using multiple probes showed maternal 754, pERT, and XJ1.1 alleles (similar to carrier sister). We conclude that MVP syndrome in DMD does occur in female carriers and improved molecular diagnostic testing aids the clinical assessment.

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Towbin, J., McCabe, E., Hejtmancik, J. et al. AN AFFECTED FEMALE CARRIER OF DUCHENNE MUSCULAR DYSTROPHY WITH ASSOCIATED MITRAL VALVE PROLAPSE. Pediatr Res 21, 231 (1987) doi:10.1203/00006450-198704010-00388

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