Fiche publication


Date publication

décembre 2021

Journal

Orphanet journal of rare diseases

Auteurs

Membres identifiés du Cancéropôle Est :
Dr ALBUISSON Juliette


Tous les auteurs :
Billon C, Adham S, Hernandez Poblete N, Legrand A, Frank M, Chiche L, Zuily S, Benistan K, Savale L, Zaafrane-Khachnaoui K, Brehin AC, Bal L, Busa T, Fradin M, Quelin C, Chesneau B, Wahl D, Fergelot P, Goizet C, Mirault T, Jeunemaitre X, Albuisson J,

Résumé

FLNA Loss-of-Function (LoF) causes periventricular nodular heterotopia type 1 (PVNH1), an acknowledged cause of seizures of various types. Neurological symptoms are inconstant, and cardiovascular (CV) defects or connective tissue disorders (CTD) have regularly been associated. We aimed at refining the description of CV and CTD features in patients with FLNA LoF and depicting the multisystemic nature of this condition.

Mots clés

Aortic aneurysm and dissection, Cardiovascular anomalies, Connective tissue disorder, Ehlers–Danlos, FLNA

Référence

Orphanet J Rare Dis. 2021 12 4;16(1):504