A Bakalakos, E Monda, PM Elliott - Canadian Journal of Cardiology, 2024 - Elsevier
Hypertrophic cardiomyopathy (HCM) is a common myocardial disease defined by increased left ventricular wall thickness unexplained by loading conditions. It is frequently caused by …
A Gazzin, F Fornari, M Niceta, C Leoni… - European Journal of …, 2024 - nature.com
Hypertrophic cardiomyopathy (HCM) is the major contributor to morbidity and mortality in Noonan syndrome (NS). Gain-of-function variants in RAF1 are associated with high …
Hypertrophic cardiomyopathy (HCM) is a myocardial disorder characterized by left ventricular (LV) hypertrophy, which cannot be entirely attributed to loading conditions such …
E Monda, M Caiazza, C Cirillo… - Journal of Clinical …, 2024 - pmc.ncbi.nlm.nih.gov
Introduction: The aim of this study was to evaluate the age at onset, clinical course, and patterns of left ventricular (LV) remodelling during follow-up in children and young patients …
CH Chan, MF Chu, UP Lam, TM Mok… - Frontiers in …, 2023 - frontiersin.org
Noonan syndrome with multiple lentigines (NSML, formerly known as LEOPARD syndrome) is a variant of Noonan syndrome which is an autosomal dominant disorder. Most cases of …
JA Fernandez-Sanchez, L Cobarro-Galvez… - … International Journal of …, 2024 - Springer
Abstract Noonan Syndrome with Multiple Lentigines (NSML-formerly known as LEOPARD syndrome) is a rare autosomal dominant condition that usually exhibits cardiac involvement …
KC Chatfield - The RASopathies: Genetic Syndromes of the RAS …, 2024 - Springer
Cardiovascular disease is an important feature of the RASopathy disorders: Noonan, cardio- facio-cutaneous, and Costello syndromes with significant implications for short-and long …
I Östman-Smith - Circulation: Genomic and Precision Medicine, 2023 - Am Heart Assoc
Noonan syndrome with multiple lentigines (NSML) is a RASopathy characterized by features of multiple lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonary …
Y Zhou, K Yang, K Ma, M Lu - ESC Heart Failure, 2024 - Wiley Online Library
Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare autosomal dominant genetic disease with only over 200 reported cases …