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Troubles du rythme et intolérance musculaire à l’effort chez un adulte jeune révélant une laminopathie

Abstract : INTRODUCTION: Arrhythmic disorders are infrequent in young adult and should evoke myopathy associated cardiomyopathy, even though muscular symptoms are moderate or absent. CASE REPORT: We report a 25-year-old woman who developed severe supraventricular rhythm disturbances with exercise intolerance and elevated serum creatine kinase level. Initially the echocardiography showed normal ventricular function. Mutation in the lamin gene (LMNA) was identified. During the disease course, arrhythmia and ventricular function worsened and required cardioverter defibrillator implantation. CONCLUSION: Laminopathies are genetic disorders among which dilated cardiomyopathy associated with skeletal muscular involvement is the most frequent phenotype, usually like Emery-Dreifuss muscular dystrophy. Other phenotypes are progeria, lipodystrophic syndromes and peripheral neuropathy. Cardiac involvement is responsible for syncope, thromboembolic events and sudden death and often requires early cardioverter defibrillator implantation.
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https://hal.univ-lorraine.fr/hal-01710077
Contributor : Devah Ul <>
Submitted on : Thursday, February 15, 2018 - 3:38:59 PM
Last modification on : Monday, January 4, 2021 - 3:58:10 PM

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C. Jacquet, B. Brembilla-Perrot, J.-M. Sellal, S. Mohamed, A. Terrier de la Chaise, et al.. Troubles du rythme et intolérance musculaire à l’effort chez un adulte jeune révélant une laminopathie. La Revue De Médecine Interne, Elsevier, 2014, 35 (9), pp.617 - 620. ⟨10.1016/j.revmed.2014.05.007⟩. ⟨hal-01710077⟩

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