Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1

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Genotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients

Objectives: Myotonic Dystrophy type I (DM1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. DM1 is associated with the expansion and instability of CTG repeat in the 3chr('39') untranslated region of the myotonic dystrophy protein kinase (DMPK) gene located on chromosome 19q13.3. The aim of this study w...

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Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart Registry.

BACKGROUND In myotonic dystrophy type 1, the association between mutation size (CTG expansion) and the severity of cardiac involvement is controversial. METHODS AND RESULTS We selected 855 patients with myotonic dystrophy type 1 (women, 51%; median age, 37 years), with genetic testing performed at the moment of their initial cardiac evaluation, out of 1014 patients included in the Myotonic Dy...

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Myotonic dystrophy type 1

Myotonic dystrophy type 1 (DM1) is a distal myopathy and a multisystem disease occurring with an incidence of 1/8000, as a result of a CTG trinucleotide repeat expansion in the serinetreonine-protein kinase (DMPK) coding gene on chromosome 19q13.3. In DM1 patients the length of the CTG expansion ranges from 50 to 4000. Disease severity correlates with repeat length and the phenomenon of genetic...

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Update on Ventricular Tachyarrhythmias and Related Sudden Cardiac Death

Goldberger JJ and colleagues have provided a meta analysis on risk stratification for arrhythmic events in nonischemic dilated cardiomyopathy [1]. They identified 45 studies with over six thousand participants which looked at arrhythmic events and predictive tests [Table 1]. They found that the tests of autonomic variability like heart rate variability, heart rate turbulence and baroreflex sens...

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ژورنال

عنوان ژورنال: European Heart Journal

سال: 2016

ISSN: 0195-668X,1522-9645

DOI: 10.1093/eurheartj/ehw569