Endocrine Abstracts

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 pa...

Lipodystrophy (LD) and obesity are opposites in terms of a deficiency versus excess of adipose tissue mass, yet these conditions are accompanied by similar metabolic consequences. VAT has not been well quantified in LD. The aim of this study was to compare the metabolic profile and VAT in different kinds of LD. Six-eight adult patients (45 females) referred for LD were classified in four groups: 23 LMNA-mutated patients (LMNA), 14 non-mutated related to the LMNA-...