The heart and cardiac pacing in Steinert disease
Nigro, G.; Papa, A.A.; Politano, L.
Acta Myologica Myopathies and Cardiomyopathies Official Journal of the Mediterranean Society of Myology 31(2): 110-116
2012
ISSN/ISBN: 1128-2460 PMID: 23097601 Document Number: 663130
Myotonic dystrophy (Dystrophia Myotonica, DM) is the most frequently inherited neuromuscular disease of adult life. It is a multisystemic disease with major cardiac involvement. Core features of myotonic dystrophy are myotonia, muscle weakness, cataract, respiratory failure and cardiac conduction abnormalities. Classical DM, first described by Steinert and called Steinert's disease or DM1 (Dystrophia Myotonica type 1) has been identified as an autosomal dominant disorder associated with the presence of an abnormal expansion of a CTG trinucleotide repeat in the 3' untranslated region of DMPK gene on chromosome 19. This review will mainly focus on the various aspects of cardiac involvement in DM1 patients and the current role of cardiac pacing in their treatment.