ea0049oc5.3 | Cardiovascular Endocrinology | ECE2017
Kwapich Maxime
, Benomar Kenza
, Espiart Stephanie
, Belle Eric Van
, Pigny Pascal
, Bonne Gisele
, Vigouroux Corinne
, Lacroix Dominique
, Vantyghem Marie-Christine
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...