Cardiac involvement in myotonic dystrophy

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Cardiac involvement in myotonic dystrophy

BACKGROUND Myotonic dystrophy (DM) is an inherited progressive muscle disorder caused by defects in muscle proteins. As the incidence of this condition is low, not many are familiar with the multisystem involvement. At times, cardiac disease may even be the predominant manifestation in the form of arrhythmias, conduction defects, and cardiomyopathies. The progression of the disease can lead to ...

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Cardiac involvement in congenital myotonic dystrophy.

Seven young patients (mean age 19 years 8 months) with congenital myotonic dystrophy and with defined symptoms at birth were investigated by electrocardiography and echocardiography. None had cardiovascular symptoms. Electrocardiograms or echocardiograms or both were abnormal in all patients. Atrioventricular and intraventricular conduction defects were the most common electrocardiographic abno...

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Cardiac involvement in myotonic dystrophy: a nationwide cohort study.

AIMS To quantify the association between myotonic dystrophy (DM) and cardiac disease in a nationwide cohort. METHODS AND RESULTS We identified a nationwide cohort of 1146 DM patients (period 1977-2011) using the National Patient Registry (NPR) and a subcohort of 485 patients who had undergone genetic testing for DM1. Information on incident cardiac diseases was obtained from the NPR. We estim...

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Cardiac involvement of myotonic dystrophy type II in patients with preserved ejection fraction - Detection by CMR

Methods We prospectively enrolled 32 subjects with a genetically confirmed diagnosis of MD2. Exclusion criteria were known cardiac diseases and contraindication for CMR. We assessed left-ventricular (LV) volumes, mass and function applying state of the art cine imaging using a 1.5 T Scanner. Late enhancement imaging (LGE; slice thickness (sth) 7 mm) was performed to detect myocardial fibrosis 1...

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Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1

With a 1:8000 incidence, myotonic dystrophy type 1 (DM1), also known as Steinert’s disease, is the most common neuromuscular disease in adults. This autosomal, dominant disorder is caused by the expansion of a (CTG) n triplet repeat in the 3′ untranslated region of the DMPK gene. The manifestations of the disease include muscle wasting and weakness, myotonia, multiple endocrine disorders, respi...

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ژورنال

عنوان ژورنال: Journal of Community Hospital Internal Medicine Perspectives

سال: 2015

ISSN: 2000-9666

DOI: 10.3402/jchimp.v5.25319