The Heart in Myotonia Atrophica

Church, S

doi:10.1001/archinte.1967.00290200100008

Cited by 84 publications

(23 citation statements)

References 30 publications

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“…Several studies report that patients with moderate-to-high risk of arrhythmia have temporally fluctuating repolarization, as a function of structural and ultrasound myocardial damage [35][36][37]. Furthermore, interstitial fibrosis, fatty infiltration and myocardial hypertrophy have been found in endomyocardial biopsies and post-mortem studies in MD1-patients [6,38,39]. The above findings hypothesize that sudden cardiac death in MD1-patients derives not only from conduction system degeneration, but also from an increased dispersion of myocardial repolarization.…”

Section: Discussionmentioning

confidence: 92%

Cardiac manifestations of myotonic dystrophy type 1

Petri

Vissing

Witting

et al. 2012

International Journal of Cardiology

135

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Section: Discussionmentioning

confidence: 92%

Cardiac manifestations of myotonic dystrophy type 1

Petri

Vissing

Witting

et al. 2012

International Journal of Cardiology

135

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“…In 1992 the genetic defect was found to be a mutation in the length of a polymorphic CTG trinucleotide repeat in the 3'untranslated region of the DM-PK gene which encodes a protein kinase possibly involved in signalling cascades in striated, smooth and cardiac muscle [13].Already in 1967 it had been demonstrated that the ECG is by far the best indicator of cardiac involvement in patients with DM [5]. In earlier studies, prolongation of the PR interval was the most frequent pathology, followed by a prolonged QRS duration, left axis deviation and non-specific ST-T wave changes.…”

Section: Introductionmentioning

confidence: 99%

Cardiac involvement and CTG expansion in myotonic dystrophy

Merlevede¹,

Vermander

Theys

et al. 2002

Journal of Neurology

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Although cardiac complications are well known in myotonic dystrophy (DM), patients rarely manifest symptoms of cardiac disease, and if so they most often show conduction abnormalities or arrhythmia. In this study, specific cardiac findings were reviewed in 79 patients with DM. No correlation was found between the cardiac assessments and the CTG expansion. Thus, for a single patient the cardiac involvement in the disease can not be predicted from the findings of the genetic investigation. On the other hand, a clear positive relationship of the PR interval with the QRS duration was revealed, as well as a positive correlation between the age of the DM patient and the QRS duration, which increases with 0,54 ms/year. Systolic dysfunction, evaluated by transthoracic echocardiography, seems to be quite uncommon. In 32 % of the patients with a normal ECG, the 24 h Holter monitoring showed arrhythmias and conduction abnormalities. Based on these findings we recommend a follow up of DM patients not only based on the ECG, but also through 24 h Holter monitoring.

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“…Although weakness, myotonia, and a progressive dystrophy of striated muscle are principle manifestations of the disease (1), abnormalities occur in other tissues: malformation of cranial bones (2), extrathyroid hypometabolism (1)(2)(3)(4)(5), alopecia (1), testicular atrophy (2,4,5), and abnormal glucose tolerance with enhanced insulin levels (2,4,6). Abnormal electrocardiograms frequently associated with cardiac symptoms (7,8), disturbances of smooth-muscle motility (9)(10)(11)(12), subcapsular irridescent cataracts (1), and hypercatabolism of IgG (13) have been reported. Physiological investigations have suggested a membrane abnormality as the underlying metabolic defect.…”

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confidence: 99%

Protein Kinase Activity in Erythrocyte Ghosts of Patients with Myotonic Muscular Dystrophy

Roses

Appel

1973

Proc. Natl. Acad. Sci. U.S.A.

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Myotonic muscular dystrophy is a disorder of humans that involves many organ systems. Physiological studies have suggested that the fundamental defect is of membrane origin. Heretofore, no reproducible metabolic abnormalities have been demonstrated. In the present studies we used erythrocyte ghosts as a convenient source of purified membranes that do not possess changes of denervation, dystrophy, and fibrosis that might complicate the interpretation of muscle membrane changes. Our experiments demonstrated a significant difference in the phosphorylation of erythrocyte ghost protein by [y_32PJATP, with endogenous protein kinase of erythrocyte membrane as the enzyme source. After ghosts were kept for 1 week at -20°, phosphorylation of membrane protein in eight controls was twice as high as endogenous protein kinase activity measured in fresh preparations. No stimulation was seen in preparations from seven myotonic dystrophy patients from three different families. This reproducible difference in normal and myotonic membranes may represent an important new approach to studies of this debilitating inborn error of metabolism.

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The Heart in Myotonia Atrophica

Cited by 84 publications

References 30 publications

Cardiac manifestations of myotonic dystrophy type 1

Cardiac manifestations of myotonic dystrophy type 1

Cardiac involvement and CTG expansion in myotonic dystrophy

Protein Kinase Activity in Erythrocyte Ghosts of Patients with Myotonic Muscular Dystrophy

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