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Endocrine Abstracts (2012) 29 P300

1IRCCS Policlinico San Donato, University of Milano, San Donato Milanese, Italy; 2Istituto Clinico Humanitas, Rozzano, Italy.


Introduction: Myotonic dystrophy (DM) type 1 and 2 are multisystemic autosomal dominant disorders with visceral obesity, insulin resistance and hypogonadism. The prevalence of metabolic risk factors for coronary artery disease (CAD) in DM is not well defined, particularly in patients affected by DM2, a milder and clinical challenging condition.

Methods: We assessed the frequency of CAD risk factors in 31 male DM1 (44±11 years) and 13 male DM2 (54±9 years) patients.

Results: DM1 patients showed visceral fat distribution: waist was >102 cm in 32% of cases and epicardial fat thickness was increased in 52% of patients (6.1±2.8 mm). Hepatic steatosis with abnormal liver tests occurred in 54% of DM1 patients and dyslipidemia also was frequent (48%). Insulin-resistance was detected in 21% of cases, while diabetes in 3%. Overt and subclinical hypogonadism occurred in 26 and 68% of cases. Arterial blood hypertension was diagnosed in 9% and cardiac dysfunction, including arrhythmias, in 32% of DM1 patients, but CAD was never present. Though visceral body fat and lipid parameters in DM2 patients did not differ from those in DM1 patients, diabetes and insulin-resistance were more frequent in DM2 versus DM1 patients (38 and 61%, respectively, P=0.006) and hypogonadism was present in all DM2 (overt in 38%). Hypertension and CAD were also more frequent in DM2 patients (69 and 24%, respectively, P<0.001; P=0.02). Echocardiography showed higher left ventricular mass index (LVMI) in DM2 vs DM1 patients (101.1±18 vs 86.5±14, P=0.05), suggesting that ventricular hypertrophy is more common in DM2.

Conclusion: Cardiovascular risk factors, namely diabetes mellitus, hypogonadism, hypertension and ventricular hypertrophy occurred more frequently in DM2 vs DM1 patients, though in DM2 the muscular phenotype is milder. DM2 represents a genetically determined model of metabolic syndrome.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.

Volume 29

15th International & 14th European Congress of Endocrinology

European Society of Endocrinology 

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