ECE2017 Oral Communications Cardiovascular Endocrinology (5 abstracts)
1Service dEndocrinologie 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.