Myotonic dystrophy (MD), the most common inherited myopathy, is associated with high cardiovascular mortality. A preliminary analysis of the DM1 Heart Registry, a comprehensive database that captures information relative to the cardiac management of adults presenting to our center with MD, revealed a high prevalence of venous thromboembolism (VTE).
Clinicians from the Institute of Myology designed this study to estimate the risk of VTE in MD and its survival consequences.
Authors retrospectively analyzed the data relative to patients referred to their center between January 2000 and January 2015, including 1148 with MD and 1662 with other inherited myopathies (facioscapulohumeral, dystrophinopathy, mitochondrial, glycogen- and lipid-storage diseases, limb-girdle muscular dystrophies, nucleopathies, collagen VI–related disorders, myofibrillar, and congenital).
The association between MD and VTE has not been previously reported and is supported in this study by the magnitude of the risk of VTE observed in patients with MD, its independence from the muscular functional status, and a majority of idiopathic events. The burden represented by VTE on survival was remarkably heavy, with pulmonary embolism representing one of the most common causes of death. Although the optimal VTE risk mitigation strategy for these patients remains to be defined, our study supports a more systematic VTE prophylaxis that should be extended to any medical or surgical setting. The association between MD and VTE may rely on the complex pathogenic mechanisms of MD, which involve the toxic effect of RNA, resulting in alterations of several cellular functions such as alternative splicing.5 One might hypothesize that missplicing of factors involved in the coagulation process contributes to the development of VTE.
