EVALUATION OF ARRHYTHMIC RISK IN MYOTONIC DYSTROPHY TYPE I (DM1)

Myotonic Dystrophy type 1 (DM1) is the most frequent muscular dystrophy of adult with an incidence of about 1 in 8000 births. It is an autosomal dominant disorder in which is present a variable multisystemic involvement of skeleton muscle, heart, nervous system, eyes, endocrin system and gastroenteric smooth muscle. The age of onset of the disease and the clinical impairment are different for each patient; in the classic type it starts between second and third life decade and it has a slow progression. However life expectancy in DM1 is often reduced by fatal cardiac events which, together with bronchopulmonary infections, are the most frequent reason of death. Cardiac involvement is manifested as a selective and extensive impairment of the conduction system, not associated with apparent structural heart diseases. In particular there is an incidence of sudden death ranging from 2% to 30%, in accordance with literature data, that has been also seen in patients with pacemakers, whose implantation prevalence in DM1 range from 3% to 22%. The evidence of sudden death in DM1, that has been noticed both in literature data and in our clinical experience, although patients underwent a rigid cardiological follow-up, underlined the importance of a different diagnostic and therapeutic approach about cardiac problems in DM1. With this object the proposal of a multicentre study borns, together with the sections of "Unione Italiana per la Lotta alle Distrofie Muscolari", U.I.L.D.M., to define specific criteria of a clinical and therapeutical follow-up. We think that a collaboration among Telethon and disease associations, as in this case U.I.L.D.M., could help to offer resources to clinical researches which might improve quality of life and life expectancy of people affected by genetic disorders.