Article
The heart in RASopathies.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2022
Delogu Angelica Bibiana, Limongelli Giuseppe, Versacci Paolo, Adorisio Rachele, Kaski Juan Pablo, Blandino Rita, Maiolo Stella, Monda Emanuele, Putotto Carolina, De Rosa Gabriella, Chatfield Kathryn C, Gelb Bruce D, Calcagni Giulio
Abstract excerpt
The cardiovascular phenotype associated with RASopathies has expanded far beyond the original descriptions of pulmonary valve stenosis by Dr Jaqueline Noonan in 1968 and hypertrophic cardiomyopathy by Hirsch et al. in 1975. Because of the common underlying RAS/MAPK pathway dysregulation, RASopathy syndromes usually present with a typical spectrum of overlapping cardiovascular anomalies, although less common...
Topics
- Humans
- Noonan Syndrome
- Heart Defects, Congenital
- Failure to Thrive
- ras Proteins
- Ectodermal Dysplasia
- Mutation