Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study
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RESEARCH
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Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study Mieke C E Hermans1*, Catharina G Faber1, Sebastiaan C A M Bekkers2, Christine E M de Die-Smulders4, Monique M Gerrits4, Ingemar S J Merkies5, Gabriel Snoep3, Yigal M Pinto6 and Simon Schalla2
Abstract Background: Myotonic dystrophy type 1 (MD1) is a neuromuscular disorder with potential involvement of the heart and increased risk of sudden death. Considering the importance of cardiomyopathy as a predictor of prognosis, we aimed to systematically evaluate and describe structural and functional cardiac alterations in patients with MD1. Methods: Eighty MD1 patients underwent physical examination, electrocardiography (ECG), echocardiography and cardiovascular magnetic resonance (CMR). Blood samples were taken for determination of NT-proBNP plasma levels and CTG repeat length. Results: Functional and structural abnormalities were detected in 35 patients (44%). Left ventricular systolic dysfunction was found in 20 cases, left ventricular dilatation in 7 patients, and left ventricular hypertrophy in 6 patients. Myocardial fibrosis was seen in 10 patients (12.5%). In general, patients had low left ventricular mass indexes. Right ventricular involvement was uncommon and only seen together with left ventricular abnormalities. Functional or structural cardiac involvement was associated with age (p = 0.04), male gender (p < 0.001) and abnormal ECG (p < 0.001). Disease duration, CTG repeat length, severity of neuromuscular symptoms and NT-proBNP level did not predict the presence of myocardial abnormalities. Conclusions: CMR can be useful to detect early structural and functional myocardial abnormalities in patients with MD1. Myocardial involvement is strongly associated with conduction abnormalities, but a normal ECG does not exclude myocardial alterations. These findings lend support to the hypothesis that MD1 patients have a complex cardiac phenotype, including both myocardial and conduction system alteration. Keywords: Myotonic dystrophy, Cardiomyopathy, Cardiac magnetic resonance imaging, Endomyocardial fibrosis
Background Myotonic dystrophy type 1 (MD1), or Steinert’s disease, is an autosomal dominant inherited disorder caused by an unstable expansion of a repetitive trinucleotide sequence (CTG) on chromosome 19. The prevalence varies from 2.1-14.3 per 100 000 [1]. MD1 is characterized by slowly progressive weakness of skeletal muscles, myotonia and involvement of several organ systems [1]. An earlier age of onset and increased severity of clinical * Correspondence: [email protected] 1 Department of Neurology, Maastricht University Medical Centre, PO box 5800, Maastricht, AZ 6202, The Netherlands Full list of author information is available at the end of the article
symptoms has been observed in subsequent generations and is related to degree of CTG expansion [2]. Patients with MD1 usually die from respiratory or cardiac complications [3,4]. Sudden death is considered to be the result
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