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Endocrine Abstracts (2017) 49 OC5.3 | DOI: 10.1530/endoabs.49.OC5.3

1Service d’Endocrinologie et Métabolisme, Hôpital C Huriez Centre Hospitalo-universitaire de Lille, 1 rue Polonovski, 59 037 Lille Cedex, France; 2Service de Cardiologie, Institut Cœur-poumon, Centre Hospitalo-universitaire de Lille, 1 rue Polonovski, 59 037 Lille Cedex, France; 3Service de Biochimie et Biologie Moléculaire, Centre de Biologie-Pathologie, Centre Hospitalo-universitaire de Lille, 1 rue Polonovski, 59 037 Lille Cedex, France; 4Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, Institut de Myologie, G.H. Pitié Salpêtrière, F-75651 Paris Cedex 13, France; 5Saint-Antoine Research Center, Institute of Cardiometabolism and Nutrition, INSERM UMR, Pierre-and-Marie Curie University, Université Paris, Sorbonne Universités, Paris, France; 6Departments of Molecular Biology and Endocrinology, Assistance Publique-Hopitaux de Paris, Hôpital Saint-Antoine, Paris, France; 7Equipe INSERM 1190 Prise en charge translationnelle du diabète Institut EGID (European Genomic Institute for Diabetes), Lille, France.


Background: Lamin A/C mutations show heterogeneous phenotypes expanding from cardiopathies to lipodystrophies. LMNA-related heart disease has recently been shown to be associated with a high incidence of phenotypic progression and adverse arrhythmic and non-arrhythmic events. Anticipatory planning to prevent sudden death has been recommended in a multicentric cardiologic recruitment. Nevertheless the specific cardiac prognosis of R482-LMNA mutated patients, the hot-spot for partial lipodystrophic syndromes, has not been well studied.

Objectives: To compare the cardio-metabolic complications of R482-LMNA mutated patients, and carriers of other LMNA mutations.

Methods: This retrospective study included 29 R482-LMNA mutated patients and 29 carriers of another lamin A/C mutation (non-R482 group) followed at a single university hospital for a median of 5.5 years. The cardiac and metabolic phenotypes were compared between the two groups.

Results: The non-R482 carriers showed more electrocardiographic anomalies and wore more cardiac devices than the R482-carriers (P<0.001). The ultrasound cardiac examinations of non-R482 patients showed a higher frequency of left auricular dilatations (P<0.05) and a lower mean left ventricular ejection fraction (P<0.01) than in R482-carriers. A family history of medical devices (P<0.001) or sudden death (P<0.01) was more frequent in non-R482 than in R482-carriers. The prevalence of diabetes (P<0.01) and hypertriglyceridemia (P<0.05) and coronaropathy was higher in R482 than in non-R482 carriers. The R482 carriers had a lower leptin (P<0.01) and BMI (P<0.05) level than the non-R482.

Conclusion: The non-R482 presented more arrhythmias than the R482-carriers, who were twice more often diabetic with more coronaropathies. The frequency of diabetes reached, however 40% in non-R482 mutations. The follow-up of laminopathies should be adjusted to the genotype. Arrythmias, especially associated to diabetes or medical device family history should lead to LMNA genetic testing.

Volume 49

19th European Congress of Endocrinology

Lisbon, Portugal
20 May 2017 - 23 May 2017

European Society of Endocrinology 

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