Myotonic dystrophy: Ambulatory electrocardiogram, electrophysiologic study, and echocardiographic evaluation

24-Hour Electrocardiographic Study in Myotonic Dystrophy

“…Findings at ambulatory electrocardiogra phy in myotonic dystrophy have previously been reported by Perloff et al [7] (25 pa tients), Viitasalo et al [8] (27 patients with mild or moderate myotonic dystrophy), and Hiromasa et al [9] (10 patients). Any direct comparison between our series and those previously published is difficult because of possible differences in patient selection, methodology used at tape recording and analysis, and classification of electrocardio graphic abnormalities.…”

“…Information in the liter ature about findings at ambulatory electro cardiography is still sparse [7][8][9].…”

“…Other have only cat aracts or an individual symptom complex such as cardiac involvement or dysphagia [2], Experimental and clinical data suggest that myotonic dystrophy represents a geneti cally induced primary alteration in the struc ture and function of cellular membranes, but the specific metabolic defect has not been defined [3]. It has recently been proposed that myotonic dystrophy may represent not one isolated entity but a class of genetic defects having similar expression [4], Electrocardiographic evidence of cardiac involvement occurs in a majority of patients with myotonic dystrophy and includes atrioventricular and intraventricular con duction defects, and a variety of arrhythmias [5][6][7][8][9]. Although several authors have re ported that patients with this disease are at risk of having malignant ventricular arrythmias, complete atrioventricular block, and sudden unexpected death [10,11], the infor mation concerning the clinical significance of electrocardiographic abnormalities at rest is limited.…”

Does Progeria Provide the Best Model of Accelerated Ageing in Humans?

“…Characteristics of interest are the lack of physical development, a susceptibil ity to lymphopenia and an increased level of spontaneous chromosome instabilities [Ma galini and Scrascia, 1981;Taylor et al, 1975;Thompson and Holliday, 1983]. In the case of myotonic dystrophy, diagnosis is strongly based on myotonia and muscular atrophy [Magalini and Scrascia, 1981], This syn drome is characterized by mental impair ment, a distinctive personality change, go nadal atrophy and the absence of age-related changes in the brain [Magalini and Scrascia, 1981;Zundel and Tyler, 1965;Hiromasa et al, 1987], The disorders have been selected from Martin's candidates [1978] for acceler ated ageing diseases to illustrate both the merits and complications of accelerating ageing diseases as ageing models. Further more, a comparison of these diseases can highlight the advantages of choosing pro geria as an ageing model.…”

“…Remarkably a recent report has appeared describing fertility in a case of progeria; how ever, the subject exhibited a marked delay in the onset of classical symptoms [Corcoy et al, 1989], Premature ageing in Werner's syndrome has a delayed onset and the progression of the various ageing changes is variable [Ep stein et al, 1966], This infers that the disease is not a simple expression of a single gene defect. Myotonic dystrophy can effect both adults and children though generally it is of later onset than the precocious ageing seen in progeria, and the appearance of cardiac dis ease is unpredictable [Roses et al, 1988;Hiromasa et al. 1987], Cockayne's syndrome manifests in early childhood and death fol lows fairly rapidly due to cardiovascular complications [Beauregard and Gilchrest;1987;Thompson and Holliday, 1983] mak ing characterization and tracing of its pro gression difficult.…”