Eleonora Gaetani, Elisabetta Peppucci, Fabiana Agostini, Luigi Di Martino, Emanuela Lucci Cordisco, Carmelo L Sturiale, Alfredo Puca, Angelo Porfidia, Andrea Alexandre, Alessandro Pedicelli, Roberto Pola
Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder caused, in more than 80% of cases, by mutations of either the endoglin ( ENG ) or the activin A receptor-like type 1 ( ACVRL1 ) gene. Several hundred variants have been identified in these HHT-causing genes, including deletions, missense and nonsense mutations, splice defects, duplications, and insertions. In this study, we have analyzed retrospectively collected images of magnetic resonance angiographies (MRA) of the brain of HHT patients, followed at the HHT Center of our University Hospital, and looked for the distribution of cerebrovascular phenotypes according to specific gene variants...
May 10, 2022: Journal of Clinical Medicine