Background: The majority of children with Noonan syndrome (NS) or other diseases from the RASopathy spectrum suffer from congenital heart disease. This study aims to survey cardiac care of this patient cohort within Europe. Methods: A cross-sectional exploratory survey assessing the treatment and management of patients with NS by paediatric endocrinologists, cardiologists and clinical geneticists was developed. This report details responses of 110 participating paediatric cardiologists from multiple countries. Results: Most paediatric cardiologists responding to the questionnaire were associated with university hospitals, and most treated <10 patients/year with congenital heart disease associated with the NS spectrum. Molecular gen...
Objective Studies in children with heart disease have been hampered by a lack of easily identifiable...
Contains fulltext : 170856.pdf (publisher's version ) (Open Access)OBJECTIVE: Stud...
Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genet...
OBJECTIVE: To assess cardiovascular (CV) safety of growth hormone (GH) treatment in patients with No...
OBJECTIVE: The study aims to assess the cardiovascular safety of growth hormone (GH) treatment in pa...
Background: Noonan Syndrome is the second most common genetic syndrome associated with congenital h...
\ua9 2024 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of Europea...
BACKGROUND: The clinical hallmarks of Noonan syndrome (NS) are facial dysmorphism, short stature and...
Background: Noonan syndrome (NS) is a genetic disorder characterized by phenotypic features, includi...
Introduction: Few data exist on long-term growth hormone (GH) treatment in patients with Noonan synd...
Introduction: Noonan syndrome (NS) is caused by mutations in RAS/MAPK signalling pathway genes. Grow...
OBJECTIVES: Advances in surgical management strategies have substantially reduced fatality from cong...
Abstract Noonan syndrome is a relatively common and heterogeneous genetic disorder, including congen...
BACKGROUND: Noonan syndrome (NS) is a genetic disorder characterized by phenotypic features, includi...
Objective Studies in children with heart disease have been hampered by a lack of easily identifiable...
Objective Studies in children with heart disease have been hampered by a lack of easily identifiable...
Contains fulltext : 170856.pdf (publisher's version ) (Open Access)OBJECTIVE: Stud...
Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genet...
OBJECTIVE: To assess cardiovascular (CV) safety of growth hormone (GH) treatment in patients with No...
OBJECTIVE: The study aims to assess the cardiovascular safety of growth hormone (GH) treatment in pa...
Background: Noonan Syndrome is the second most common genetic syndrome associated with congenital h...
\ua9 2024 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of Europea...
BACKGROUND: The clinical hallmarks of Noonan syndrome (NS) are facial dysmorphism, short stature and...
Background: Noonan syndrome (NS) is a genetic disorder characterized by phenotypic features, includi...
Introduction: Few data exist on long-term growth hormone (GH) treatment in patients with Noonan synd...
Introduction: Noonan syndrome (NS) is caused by mutations in RAS/MAPK signalling pathway genes. Grow...
OBJECTIVES: Advances in surgical management strategies have substantially reduced fatality from cong...
Abstract Noonan syndrome is a relatively common and heterogeneous genetic disorder, including congen...
BACKGROUND: Noonan syndrome (NS) is a genetic disorder characterized by phenotypic features, includi...
Objective Studies in children with heart disease have been hampered by a lack of easily identifiable...
Objective Studies in children with heart disease have been hampered by a lack of easily identifiable...
Contains fulltext : 170856.pdf (publisher's version ) (Open Access)OBJECTIVE: Stud...
Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genet...