Open AccessClinical Care Recommendations for Cardiologists Treating Adults With Myotonic Dystrophy
Author(s) -
McNally Elizabeth M.,
Mann Douglas L.,
Pinto Yigal,
Bhakta Deepak,
Tomaselli Gordon,
Nazarian Saman,
Groh William J.,
Tamura Takuhisa,
Duboc Denis,
Itoh Hideki,
Hellerstein Leah,
Mammen Pradeep P. A.
Publication year - 2020
Publication title -
journal of the american heart association
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.494
H-Index - 85
ISSN - 2047-9980
DOI - 10.1161/jaha.119.014006
Subject(s) - myotonic dystrophy , medicine , myotonia , intensive care medicine , etiology , genetic disorder , muscular dystrophy , genetic testing , pediatrics , disease
Myotonic dystrophy is an inherited systemic disorder affecting skeletal muscle and the heart. Genetic testing for myotonic dystrophy is diagnostic and identifies those at risk for cardiac complications. The 2 major genetic forms of myotonic dystrophy, type 1 and type 2, differ in genetic etiology yet share clinical features. The cardiac management of myotonic dystrophy should include surveillance for arrhythmias and left ventricular dysfunction, both of which occur in progressive manner and contribute to morbidity and mortality. To promote the development of care guidelines for myotonic dystrophy, the Myotonic Foundation solicited the input of care experts and organized the drafting of these recommendations. As a rare disorder, large scale clinical trial data to guide the management of myotonic dystrophy are largely lacking. The following recommendations represent expert consensus opinion from those with experience in the management of myotonic dystrophy, in part supported by literature‐based evidence where available.